Incidental Mutation 'R0013:Plec'
ID 32665
Institutional Source Beutler Lab
Gene Symbol Plec
Ensembl Gene ENSMUSG00000022565
Gene Name plectin
Synonyms Plec1
MMRRC Submission 038308-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.740) question?
Stock # R0013 (G1)
Quality Score 99
Status Not validated
Chromosome 15
Chromosomal Location 76170974-76232574 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76178246 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 2524 (D2524G)
Ref Sequence ENSEMBL: ENSMUSP00000057158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023226] [ENSMUST00000054449] [ENSMUST00000071869] [ENSMUST00000072692] [ENSMUST00000073418] [ENSMUST00000074834] [ENSMUST00000076442] [ENSMUST00000080857] [ENSMUST00000089610] [ENSMUST00000169108] [ENSMUST00000169438] [ENSMUST00000169714] [ENSMUST00000171562]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000023226
AA Change: D2519G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023226
Gene: ENSMUSG00000022565
AA Change: D2519G

DomainStartEndE-ValueType
CH 44 143 4.57e-28 SMART
CH 160 258 3.52e-20 SMART
internal_repeat_2 293 375 1.47e-5 PROSPERO
internal_repeat_2 369 451 1.47e-5 PROSPERO
SPEC 516 613 3.08e-5 SMART
SPEC 616 716 1.29e-7 SMART
SPEC 722 884 3.01e0 SMART
low complexity region 963 977 N/A INTRINSIC
SPEC 980 1086 3.48e0 SMART
SPEC 1089 1200 7.63e-1 SMART
SPEC 1207 1367 2.59e-1 SMART
low complexity region 1371 1411 N/A INTRINSIC
low complexity region 1438 1455 N/A INTRINSIC
low complexity region 1468 1499 N/A INTRINSIC
low complexity region 1510 1559 N/A INTRINSIC
low complexity region 1601 1630 N/A INTRINSIC
low complexity region 1655 1680 N/A INTRINSIC
low complexity region 1718 1739 N/A INTRINSIC
low complexity region 1766 1830 N/A INTRINSIC
low complexity region 1846 1871 N/A INTRINSIC
low complexity region 1932 1946 N/A INTRINSIC
low complexity region 1960 1986 N/A INTRINSIC
low complexity region 2016 2050 N/A INTRINSIC
low complexity region 2056 2070 N/A INTRINSIC
low complexity region 2077 2105 N/A INTRINSIC
low complexity region 2114 2163 N/A INTRINSIC
low complexity region 2180 2195 N/A INTRINSIC
low complexity region 2283 2299 N/A INTRINSIC
low complexity region 2322 2340 N/A INTRINSIC
low complexity region 2391 2404 N/A INTRINSIC
low complexity region 2442 2472 N/A INTRINSIC
low complexity region 2525 2546 N/A INTRINSIC
low complexity region 2550 2565 N/A INTRINSIC
low complexity region 2567 2608 N/A INTRINSIC
PLEC 2647 2684 2.99e1 SMART
PLEC 2685 2722 4.49e-7 SMART
PLEC 2723 2760 4.49e-7 SMART
PLEC 2761 2798 3.54e-5 SMART
PLEC 2799 2836 3.27e-9 SMART
PLEC 2840 2874 6.31e-2 SMART
low complexity region 2945 2963 N/A INTRINSIC
PLEC 2975 3012 3.84e0 SMART
PLEC 3013 3050 1.59e-7 SMART
PLEC 3051 3088 3.54e-5 SMART
PLEC 3089 3126 8.64e-9 SMART
PLEC 3127 3164 1.53e-9 SMART
PLEC 3167 3202 2.18e2 SMART
low complexity region 3274 3293 N/A INTRINSIC
PLEC 3344 3381 3.22e-8 SMART
PLEC 3382 3419 7.82e-7 SMART
PLEC 3420 3457 1.9e-5 SMART
PLEC 3458 3495 7.01e-9 SMART
PLEC 3499 3533 3.38e-2 SMART
low complexity region 3545 3566 N/A INTRINSIC
low complexity region 3572 3582 N/A INTRINSIC
low complexity region 3615 3628 N/A INTRINSIC
PLEC 3679 3716 1.22e-8 SMART
PLEC 3717 3754 1.26e-10 SMART
PLEC 3755 3792 2.24e-7 SMART
PLEC 3793 3830 1.82e-7 SMART
PLEC 3834 3867 5.49e1 SMART
PLEC 3871 3904 3.2e2 SMART
PLEC 3922 3959 8.77e-10 SMART
PLEC 3960 3997 4.13e-6 SMART
PLEC 3998 4035 3.03e-4 SMART
PLEC 4036 4073 4.77e-11 SMART
PLEC 4077 4111 1.28e-2 SMART
PLEC 4124 4164 1.05e-7 SMART
low complexity region 4166 4176 N/A INTRINSIC
PLEC 4178 4215 1.73e1 SMART
low complexity region 4241 4256 N/A INTRINSIC
PLEC 4267 4304 3.65e-7 SMART
PLEC 4305 4342 9.99e-14 SMART
PLEC 4343 4380 4.71e-1 SMART
PLEC 4381 4418 2.44e-8 SMART
PLEC 4419 4456 2.87e-5 SMART
low complexity region 4466 4501 N/A INTRINSIC
low complexity region 4504 4530 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000054449
AA Change: D2524G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000057158
Gene: ENSMUSG00000022565
AA Change: D2524G

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
CH 44 148 9.8e-28 SMART
CH 165 263 3.52e-20 SMART
internal_repeat_2 298 380 1.4e-5 PROSPERO
internal_repeat_2 374 456 1.4e-5 PROSPERO
SPEC 521 618 3.08e-5 SMART
SPEC 621 721 1.29e-7 SMART
SPEC 727 889 3.01e0 SMART
low complexity region 968 982 N/A INTRINSIC
SPEC 985 1091 3.48e0 SMART
SPEC 1094 1205 7.63e-1 SMART
SPEC 1212 1372 2.59e-1 SMART
low complexity region 1376 1416 N/A INTRINSIC
low complexity region 1443 1460 N/A INTRINSIC
low complexity region 1473 1504 N/A INTRINSIC
low complexity region 1515 1564 N/A INTRINSIC
low complexity region 1606 1635 N/A INTRINSIC
low complexity region 1660 1685 N/A INTRINSIC
low complexity region 1723 1744 N/A INTRINSIC
low complexity region 1771 1835 N/A INTRINSIC
low complexity region 1851 1876 N/A INTRINSIC
low complexity region 1937 1951 N/A INTRINSIC
low complexity region 1965 1991 N/A INTRINSIC
low complexity region 2021 2055 N/A INTRINSIC
low complexity region 2061 2075 N/A INTRINSIC
low complexity region 2082 2110 N/A INTRINSIC
low complexity region 2119 2168 N/A INTRINSIC
low complexity region 2185 2200 N/A INTRINSIC
low complexity region 2288 2304 N/A INTRINSIC
low complexity region 2327 2345 N/A INTRINSIC
low complexity region 2396 2409 N/A INTRINSIC
low complexity region 2447 2477 N/A INTRINSIC
low complexity region 2530 2551 N/A INTRINSIC
low complexity region 2555 2570 N/A INTRINSIC
low complexity region 2572 2613 N/A INTRINSIC
PLEC 2652 2689 2.99e1 SMART
PLEC 2690 2727 4.49e-7 SMART
PLEC 2728 2765 4.49e-7 SMART
PLEC 2766 2803 3.54e-5 SMART
PLEC 2804 2841 3.27e-9 SMART
PLEC 2845 2879 6.31e-2 SMART
low complexity region 2950 2968 N/A INTRINSIC
PLEC 2980 3017 3.84e0 SMART
PLEC 3018 3055 1.59e-7 SMART
PLEC 3056 3093 3.54e-5 SMART
PLEC 3094 3131 8.64e-9 SMART
PLEC 3132 3169 1.53e-9 SMART
PLEC 3172 3207 2.18e2 SMART
low complexity region 3279 3298 N/A INTRINSIC
PLEC 3349 3386 3.22e-8 SMART
PLEC 3387 3424 7.82e-7 SMART
PLEC 3425 3462 1.9e-5 SMART
PLEC 3463 3500 7.01e-9 SMART
PLEC 3504 3538 3.38e-2 SMART
low complexity region 3550 3571 N/A INTRINSIC
low complexity region 3577 3587 N/A INTRINSIC
low complexity region 3620 3633 N/A INTRINSIC
PLEC 3684 3721 1.22e-8 SMART
PLEC 3722 3759 1.26e-10 SMART
PLEC 3760 3797 2.24e-7 SMART
PLEC 3798 3835 1.82e-7 SMART
PLEC 3839 3872 5.49e1 SMART
PLEC 3876 3909 3.2e2 SMART
PLEC 3927 3964 8.77e-10 SMART
PLEC 3965 4002 4.13e-6 SMART
PLEC 4003 4040 3.03e-4 SMART
PLEC 4041 4078 4.77e-11 SMART
PLEC 4082 4116 1.28e-2 SMART
PLEC 4129 4169 1.05e-7 SMART
low complexity region 4171 4181 N/A INTRINSIC
PLEC 4183 4220 1.73e1 SMART
low complexity region 4246 4261 N/A INTRINSIC
PLEC 4272 4309 3.65e-7 SMART
PLEC 4310 4347 9.99e-14 SMART
PLEC 4348 4385 4.71e-1 SMART
PLEC 4386 4423 2.44e-8 SMART
PLEC 4424 4461 2.87e-5 SMART
low complexity region 4471 4506 N/A INTRINSIC
low complexity region 4509 4535 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000071869
AA Change: D2497G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000071765
Gene: ENSMUSG00000022565
AA Change: D2497G

DomainStartEndE-ValueType
CH 22 121 4.57e-28 SMART
CH 138 236 3.52e-20 SMART
internal_repeat_2 271 353 1.13e-5 PROSPERO
internal_repeat_2 347 429 1.13e-5 PROSPERO
SPEC 494 591 3.08e-5 SMART
SPEC 594 694 1.29e-7 SMART
SPEC 700 862 3.01e0 SMART
low complexity region 941 955 N/A INTRINSIC
SPEC 958 1064 3.48e0 SMART
SPEC 1067 1178 7.63e-1 SMART
SPEC 1185 1345 2.59e-1 SMART
low complexity region 1349 1389 N/A INTRINSIC
low complexity region 1416 1433 N/A INTRINSIC
low complexity region 1446 1477 N/A INTRINSIC
low complexity region 1488 1537 N/A INTRINSIC
low complexity region 1579 1608 N/A INTRINSIC
low complexity region 1633 1658 N/A INTRINSIC
low complexity region 1696 1717 N/A INTRINSIC
low complexity region 1744 1808 N/A INTRINSIC
low complexity region 1824 1849 N/A INTRINSIC
low complexity region 1910 1924 N/A INTRINSIC
low complexity region 1938 1964 N/A INTRINSIC
low complexity region 1994 2028 N/A INTRINSIC
low complexity region 2034 2048 N/A INTRINSIC
low complexity region 2055 2083 N/A INTRINSIC
low complexity region 2092 2141 N/A INTRINSIC
low complexity region 2158 2173 N/A INTRINSIC
low complexity region 2261 2277 N/A INTRINSIC
low complexity region 2300 2318 N/A INTRINSIC
low complexity region 2369 2382 N/A INTRINSIC
low complexity region 2420 2450 N/A INTRINSIC
low complexity region 2503 2524 N/A INTRINSIC
low complexity region 2528 2543 N/A INTRINSIC
low complexity region 2545 2586 N/A INTRINSIC
PLEC 2625 2662 2.99e1 SMART
PLEC 2663 2700 4.49e-7 SMART
PLEC 2701 2738 4.49e-7 SMART
PLEC 2739 2776 3.54e-5 SMART
PLEC 2777 2814 3.27e-9 SMART
PLEC 2818 2852 6.31e-2 SMART
low complexity region 2923 2941 N/A INTRINSIC
PLEC 2953 2990 3.84e0 SMART
PLEC 2991 3028 1.59e-7 SMART
PLEC 3029 3066 3.54e-5 SMART
PLEC 3067 3104 8.64e-9 SMART
PLEC 3105 3142 1.53e-9 SMART
PLEC 3145 3180 2.18e2 SMART
low complexity region 3252 3271 N/A INTRINSIC
PLEC 3322 3359 3.22e-8 SMART
PLEC 3360 3397 7.82e-7 SMART
PLEC 3398 3435 1.9e-5 SMART
PLEC 3436 3473 7.01e-9 SMART
PLEC 3477 3511 3.38e-2 SMART
low complexity region 3523 3544 N/A INTRINSIC
low complexity region 3550 3560 N/A INTRINSIC
low complexity region 3593 3606 N/A INTRINSIC
PLEC 3657 3694 1.22e-8 SMART
PLEC 3695 3732 1.26e-10 SMART
PLEC 3733 3770 2.24e-7 SMART
PLEC 3771 3808 1.82e-7 SMART
PLEC 3812 3845 5.49e1 SMART
PLEC 3849 3882 3.2e2 SMART
PLEC 3900 3937 8.77e-10 SMART
PLEC 3938 3975 4.13e-6 SMART
PLEC 3976 4013 3.03e-4 SMART
PLEC 4014 4051 4.77e-11 SMART
PLEC 4055 4089 1.28e-2 SMART
PLEC 4102 4142 1.05e-7 SMART
low complexity region 4144 4154 N/A INTRINSIC
PLEC 4156 4193 1.73e1 SMART
low complexity region 4219 4234 N/A INTRINSIC
PLEC 4245 4282 3.65e-7 SMART
PLEC 4283 4320 9.99e-14 SMART
PLEC 4321 4358 4.71e-1 SMART
PLEC 4359 4396 2.44e-8 SMART
PLEC 4397 4434 2.87e-5 SMART
low complexity region 4444 4479 N/A INTRINSIC
low complexity region 4482 4508 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000072692
AA Change: D2526G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072478
Gene: ENSMUSG00000022565
AA Change: D2526G

DomainStartEndE-ValueType
CH 51 150 4.57e-28 SMART
CH 167 265 3.52e-20 SMART
internal_repeat_2 300 382 1.54e-5 PROSPERO
internal_repeat_2 376 458 1.54e-5 PROSPERO
SPEC 523 620 3.08e-5 SMART
SPEC 623 723 1.29e-7 SMART
SPEC 729 891 3.01e0 SMART
low complexity region 970 984 N/A INTRINSIC
SPEC 987 1093 3.48e0 SMART
SPEC 1096 1207 7.63e-1 SMART
SPEC 1214 1374 2.59e-1 SMART
low complexity region 1378 1418 N/A INTRINSIC
low complexity region 1445 1462 N/A INTRINSIC
low complexity region 1475 1506 N/A INTRINSIC
low complexity region 1517 1566 N/A INTRINSIC
low complexity region 1608 1637 N/A INTRINSIC
low complexity region 1662 1687 N/A INTRINSIC
low complexity region 1725 1746 N/A INTRINSIC
low complexity region 1773 1837 N/A INTRINSIC
low complexity region 1853 1878 N/A INTRINSIC
low complexity region 1939 1953 N/A INTRINSIC
low complexity region 1967 1993 N/A INTRINSIC
low complexity region 2023 2057 N/A INTRINSIC
low complexity region 2063 2077 N/A INTRINSIC
low complexity region 2084 2112 N/A INTRINSIC
low complexity region 2121 2170 N/A INTRINSIC
low complexity region 2187 2202 N/A INTRINSIC
low complexity region 2290 2306 N/A INTRINSIC
low complexity region 2329 2347 N/A INTRINSIC
low complexity region 2398 2411 N/A INTRINSIC
low complexity region 2449 2479 N/A INTRINSIC
low complexity region 2532 2553 N/A INTRINSIC
low complexity region 2557 2572 N/A INTRINSIC
low complexity region 2574 2615 N/A INTRINSIC
PLEC 2654 2691 2.99e1 SMART
PLEC 2692 2729 4.49e-7 SMART
PLEC 2730 2767 4.49e-7 SMART
PLEC 2768 2805 3.54e-5 SMART
PLEC 2806 2843 3.27e-9 SMART
PLEC 2847 2881 6.31e-2 SMART
low complexity region 2952 2970 N/A INTRINSIC
PLEC 2982 3019 3.84e0 SMART
PLEC 3020 3057 1.59e-7 SMART
PLEC 3058 3095 3.54e-5 SMART
PLEC 3096 3133 8.64e-9 SMART
PLEC 3134 3171 1.53e-9 SMART
PLEC 3174 3209 2.18e2 SMART
low complexity region 3281 3300 N/A INTRINSIC
PLEC 3351 3388 3.22e-8 SMART
PLEC 3389 3426 7.82e-7 SMART
PLEC 3427 3464 1.9e-5 SMART
PLEC 3465 3502 7.01e-9 SMART
PLEC 3506 3540 3.38e-2 SMART
low complexity region 3552 3573 N/A INTRINSIC
low complexity region 3579 3589 N/A INTRINSIC
low complexity region 3622 3635 N/A INTRINSIC
PLEC 3686 3723 1.22e-8 SMART
PLEC 3724 3761 1.26e-10 SMART
PLEC 3762 3799 2.24e-7 SMART
PLEC 3800 3837 1.82e-7 SMART
PLEC 3841 3874 5.49e1 SMART
PLEC 3878 3911 3.2e2 SMART
PLEC 3929 3966 8.77e-10 SMART
PLEC 3967 4004 4.13e-6 SMART
PLEC 4005 4042 3.03e-4 SMART
PLEC 4043 4080 4.77e-11 SMART
PLEC 4084 4118 1.28e-2 SMART
PLEC 4131 4171 1.05e-7 SMART
low complexity region 4173 4183 N/A INTRINSIC
PLEC 4185 4222 1.73e1 SMART
low complexity region 4248 4263 N/A INTRINSIC
PLEC 4274 4311 3.65e-7 SMART
PLEC 4312 4349 9.99e-14 SMART
PLEC 4350 4387 4.71e-1 SMART
PLEC 4388 4425 2.44e-8 SMART
PLEC 4426 4463 2.87e-5 SMART
low complexity region 4473 4508 N/A INTRINSIC
low complexity region 4511 4537 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000073418
AA Change: D2667G

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000073124
Gene: ENSMUSG00000022565
AA Change: D2667G

DomainStartEndE-ValueType
Pfam:S10_plectin 7 101 6.3e-34 PFAM
CH 187 291 5e-30 SMART
CH 308 406 1.8e-22 SMART
internal_repeat_2 441 523 2.49e-5 PROSPERO
internal_repeat_2 517 599 2.49e-5 PROSPERO
SPEC 664 761 1.9e-7 SMART
SPEC 764 864 8.4e-10 SMART
SPEC 870 1032 1.9e-2 SMART
low complexity region 1111 1125 N/A INTRINSIC
SPEC 1128 1234 2.3e-2 SMART
SPEC 1237 1348 4.9e-3 SMART
SPEC 1355 1515 1.7e-3 SMART
low complexity region 1519 1559 N/A INTRINSIC
low complexity region 1586 1603 N/A INTRINSIC
low complexity region 1616 1647 N/A INTRINSIC
low complexity region 1658 1707 N/A INTRINSIC
low complexity region 1749 1778 N/A INTRINSIC
low complexity region 1803 1828 N/A INTRINSIC
low complexity region 1866 1887 N/A INTRINSIC
low complexity region 1914 1978 N/A INTRINSIC
low complexity region 1994 2019 N/A INTRINSIC
low complexity region 2080 2094 N/A INTRINSIC
low complexity region 2108 2134 N/A INTRINSIC
low complexity region 2164 2198 N/A INTRINSIC
low complexity region 2204 2218 N/A INTRINSIC
low complexity region 2225 2253 N/A INTRINSIC
low complexity region 2262 2311 N/A INTRINSIC
low complexity region 2328 2343 N/A INTRINSIC
low complexity region 2431 2447 N/A INTRINSIC
low complexity region 2470 2488 N/A INTRINSIC
low complexity region 2539 2552 N/A INTRINSIC
low complexity region 2590 2620 N/A INTRINSIC
low complexity region 2673 2694 N/A INTRINSIC
low complexity region 2698 2713 N/A INTRINSIC
low complexity region 2715 2756 N/A INTRINSIC
PLEC 2795 2832 1.9e-1 SMART
PLEC 2833 2870 2.8e-9 SMART
PLEC 2871 2908 2.8e-9 SMART
PLEC 2909 2946 2.3e-7 SMART
PLEC 2947 2984 2e-11 SMART
PLEC 2988 3022 4e-4 SMART
low complexity region 3093 3111 N/A INTRINSIC
PLEC 3123 3160 2.5e-2 SMART
PLEC 3161 3198 1.1e-9 SMART
PLEC 3199 3236 2.2e-7 SMART
PLEC 3237 3274 5.7e-11 SMART
PLEC 3275 3312 1e-11 SMART
PLEC 3315 3350 1.4e0 SMART
low complexity region 3422 3441 N/A INTRINSIC
PLEC 3492 3529 2.1e-10 SMART
PLEC 3530 3567 5.1e-9 SMART
PLEC 3568 3605 1.2e-7 SMART
PLEC 3606 3643 4.6e-11 SMART
PLEC 3647 3681 2.2e-4 SMART
low complexity region 3693 3714 N/A INTRINSIC
low complexity region 3720 3730 N/A INTRINSIC
low complexity region 3763 3776 N/A INTRINSIC
PLEC 3827 3864 8.1e-11 SMART
PLEC 3865 3902 7.9e-13 SMART
PLEC 3903 3940 1.5e-9 SMART
PLEC 3941 3978 1.2e-9 SMART
PLEC 3982 4015 3.6e-1 SMART
PLEC 4019 4052 2e0 SMART
PLEC 4070 4107 5.7e-12 SMART
PLEC 4108 4145 2.7e-8 SMART
PLEC 4146 4183 1.9e-6 SMART
PLEC 4184 4221 3e-13 SMART
PLEC 4225 4259 8.1e-5 SMART
PLEC 4272 4312 6.5e-10 SMART
low complexity region 4314 4324 N/A INTRINSIC
PLEC 4326 4363 1.1e-1 SMART
low complexity region 4389 4404 N/A INTRINSIC
PLEC 4415 4452 2.3e-9 SMART
PLEC 4453 4490 6.4e-16 SMART
PLEC 4491 4528 3.1e-3 SMART
PLEC 4529 4566 1.5e-10 SMART
PLEC 4567 4604 1.8e-7 SMART
low complexity region 4614 4649 N/A INTRINSIC
low complexity region 4652 4678 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000074834
AA Change: D2510G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000074383
Gene: ENSMUSG00000022565
AA Change: D2510G

DomainStartEndE-ValueType
CH 35 134 4.57e-28 SMART
CH 151 249 3.52e-20 SMART
internal_repeat_2 284 366 1.19e-5 PROSPERO
internal_repeat_2 360 442 1.19e-5 PROSPERO
SPEC 507 604 3.08e-5 SMART
SPEC 607 707 1.29e-7 SMART
SPEC 713 875 3.01e0 SMART
low complexity region 954 968 N/A INTRINSIC
SPEC 971 1077 3.48e0 SMART
SPEC 1080 1191 7.63e-1 SMART
SPEC 1198 1358 2.59e-1 SMART
low complexity region 1362 1402 N/A INTRINSIC
low complexity region 1429 1446 N/A INTRINSIC
low complexity region 1459 1490 N/A INTRINSIC
low complexity region 1501 1550 N/A INTRINSIC
low complexity region 1592 1621 N/A INTRINSIC
low complexity region 1646 1671 N/A INTRINSIC
low complexity region 1709 1730 N/A INTRINSIC
low complexity region 1757 1821 N/A INTRINSIC
low complexity region 1837 1862 N/A INTRINSIC
low complexity region 1923 1937 N/A INTRINSIC
low complexity region 1951 1977 N/A INTRINSIC
low complexity region 2007 2041 N/A INTRINSIC
low complexity region 2047 2061 N/A INTRINSIC
low complexity region 2068 2096 N/A INTRINSIC
low complexity region 2105 2154 N/A INTRINSIC
low complexity region 2171 2186 N/A INTRINSIC
low complexity region 2274 2290 N/A INTRINSIC
low complexity region 2313 2331 N/A INTRINSIC
low complexity region 2382 2395 N/A INTRINSIC
low complexity region 2433 2463 N/A INTRINSIC
low complexity region 2516 2537 N/A INTRINSIC
low complexity region 2541 2556 N/A INTRINSIC
low complexity region 2558 2599 N/A INTRINSIC
PLEC 2638 2675 2.99e1 SMART
PLEC 2676 2713 4.49e-7 SMART
PLEC 2714 2751 4.49e-7 SMART
PLEC 2752 2789 3.54e-5 SMART
PLEC 2790 2827 3.27e-9 SMART
PLEC 2831 2865 6.31e-2 SMART
low complexity region 2936 2954 N/A INTRINSIC
PLEC 2966 3003 3.84e0 SMART
PLEC 3004 3041 1.59e-7 SMART
PLEC 3042 3079 3.54e-5 SMART
PLEC 3080 3117 8.64e-9 SMART
PLEC 3118 3155 1.53e-9 SMART
PLEC 3158 3193 2.18e2 SMART
low complexity region 3265 3284 N/A INTRINSIC
PLEC 3335 3372 3.22e-8 SMART
PLEC 3373 3410 7.82e-7 SMART
PLEC 3411 3448 1.9e-5 SMART
PLEC 3449 3486 7.01e-9 SMART
PLEC 3490 3524 3.38e-2 SMART
low complexity region 3536 3557 N/A INTRINSIC
low complexity region 3563 3573 N/A INTRINSIC
low complexity region 3606 3619 N/A INTRINSIC
PLEC 3670 3707 1.22e-8 SMART
PLEC 3708 3745 1.26e-10 SMART
PLEC 3746 3783 2.24e-7 SMART
PLEC 3784 3821 1.82e-7 SMART
PLEC 3825 3858 5.49e1 SMART
PLEC 3862 3895 3.2e2 SMART
PLEC 3913 3950 8.77e-10 SMART
PLEC 3951 3988 4.13e-6 SMART
PLEC 3989 4026 3.03e-4 SMART
PLEC 4027 4064 4.77e-11 SMART
PLEC 4068 4102 1.28e-2 SMART
PLEC 4115 4155 1.05e-7 SMART
low complexity region 4157 4167 N/A INTRINSIC
PLEC 4169 4206 1.73e1 SMART
low complexity region 4232 4247 N/A INTRINSIC
PLEC 4258 4295 3.65e-7 SMART
PLEC 4296 4333 9.99e-14 SMART
PLEC 4334 4371 4.71e-1 SMART
PLEC 4372 4409 2.44e-8 SMART
PLEC 4410 4447 2.87e-5 SMART
low complexity region 4457 4492 N/A INTRINSIC
low complexity region 4495 4521 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000076442
AA Change: D2662G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075772
Gene: ENSMUSG00000022565
AA Change: D2662G

DomainStartEndE-ValueType
Pfam:S10_plectin 7 104 2.3e-37 PFAM
CH 187 286 4.57e-28 SMART
CH 303 401 3.52e-20 SMART
internal_repeat_2 436 518 2.42e-5 PROSPERO
internal_repeat_2 512 594 2.42e-5 PROSPERO
SPEC 659 756 3.08e-5 SMART
SPEC 759 859 1.29e-7 SMART
SPEC 865 1027 3.01e0 SMART
low complexity region 1106 1120 N/A INTRINSIC
SPEC 1123 1229 3.48e0 SMART
SPEC 1232 1343 7.63e-1 SMART
SPEC 1350 1510 2.59e-1 SMART
low complexity region 1514 1554 N/A INTRINSIC
low complexity region 1581 1598 N/A INTRINSIC
low complexity region 1611 1642 N/A INTRINSIC
low complexity region 1653 1702 N/A INTRINSIC
low complexity region 1744 1773 N/A INTRINSIC
low complexity region 1798 1823 N/A INTRINSIC
low complexity region 1861 1882 N/A INTRINSIC
low complexity region 1909 1973 N/A INTRINSIC
low complexity region 1989 2014 N/A INTRINSIC
low complexity region 2075 2089 N/A INTRINSIC
low complexity region 2103 2129 N/A INTRINSIC
low complexity region 2159 2193 N/A INTRINSIC
low complexity region 2199 2213 N/A INTRINSIC
low complexity region 2220 2248 N/A INTRINSIC
low complexity region 2257 2306 N/A INTRINSIC
low complexity region 2323 2338 N/A INTRINSIC
low complexity region 2426 2442 N/A INTRINSIC
low complexity region 2465 2483 N/A INTRINSIC
low complexity region 2534 2547 N/A INTRINSIC
low complexity region 2585 2615 N/A INTRINSIC
low complexity region 2668 2689 N/A INTRINSIC
low complexity region 2693 2708 N/A INTRINSIC
low complexity region 2710 2751 N/A INTRINSIC
PLEC 2790 2827 2.99e1 SMART
PLEC 2828 2865 4.49e-7 SMART
PLEC 2866 2903 4.49e-7 SMART
PLEC 2904 2941 3.54e-5 SMART
PLEC 2942 2979 3.27e-9 SMART
PLEC 2983 3017 6.31e-2 SMART
low complexity region 3088 3106 N/A INTRINSIC
PLEC 3118 3155 3.84e0 SMART
PLEC 3156 3193 1.59e-7 SMART
PLEC 3194 3231 3.54e-5 SMART
PLEC 3232 3269 8.64e-9 SMART
PLEC 3270 3307 1.53e-9 SMART
PLEC 3310 3345 2.18e2 SMART
low complexity region 3417 3436 N/A INTRINSIC
PLEC 3487 3524 3.22e-8 SMART
PLEC 3525 3562 7.82e-7 SMART
PLEC 3563 3600 1.9e-5 SMART
PLEC 3601 3638 7.01e-9 SMART
PLEC 3642 3676 3.38e-2 SMART
low complexity region 3688 3709 N/A INTRINSIC
low complexity region 3715 3725 N/A INTRINSIC
low complexity region 3758 3771 N/A INTRINSIC
PLEC 3822 3859 1.22e-8 SMART
PLEC 3860 3897 1.26e-10 SMART
PLEC 3898 3935 2.24e-7 SMART
PLEC 3936 3973 1.82e-7 SMART
PLEC 3977 4010 5.49e1 SMART
PLEC 4014 4047 3.2e2 SMART
PLEC 4065 4102 8.77e-10 SMART
PLEC 4103 4140 4.13e-6 SMART
PLEC 4141 4178 3.03e-4 SMART
PLEC 4179 4216 4.77e-11 SMART
PLEC 4220 4254 1.28e-2 SMART
PLEC 4267 4307 1.05e-7 SMART
low complexity region 4309 4319 N/A INTRINSIC
PLEC 4321 4358 1.73e1 SMART
low complexity region 4384 4399 N/A INTRINSIC
PLEC 4410 4447 3.65e-7 SMART
PLEC 4448 4485 9.99e-14 SMART
PLEC 4486 4523 4.71e-1 SMART
PLEC 4524 4561 2.44e-8 SMART
PLEC 4562 4599 2.87e-5 SMART
low complexity region 4609 4644 N/A INTRINSIC
low complexity region 4647 4673 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000080857
AA Change: D2362G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000079668
Gene: ENSMUSG00000022565
AA Change: D2362G

DomainStartEndE-ValueType
CH 3 101 3.52e-20 SMART
internal_repeat_2 136 218 8.51e-6 PROSPERO
internal_repeat_2 212 294 8.51e-6 PROSPERO
SPEC 359 456 3.08e-5 SMART
SPEC 459 559 1.29e-7 SMART
SPEC 565 727 3.01e0 SMART
low complexity region 806 820 N/A INTRINSIC
SPEC 823 929 3.48e0 SMART
SPEC 932 1043 7.63e-1 SMART
SPEC 1050 1210 2.59e-1 SMART
low complexity region 1214 1254 N/A INTRINSIC
low complexity region 1281 1298 N/A INTRINSIC
low complexity region 1311 1342 N/A INTRINSIC
low complexity region 1353 1402 N/A INTRINSIC
low complexity region 1444 1473 N/A INTRINSIC
low complexity region 1498 1523 N/A INTRINSIC
low complexity region 1561 1582 N/A INTRINSIC
low complexity region 1609 1673 N/A INTRINSIC
low complexity region 1689 1714 N/A INTRINSIC
low complexity region 1775 1789 N/A INTRINSIC
low complexity region 1803 1829 N/A INTRINSIC
low complexity region 1859 1893 N/A INTRINSIC
low complexity region 1899 1913 N/A INTRINSIC
low complexity region 1920 1948 N/A INTRINSIC
low complexity region 1957 2006 N/A INTRINSIC
low complexity region 2023 2038 N/A INTRINSIC
low complexity region 2126 2142 N/A INTRINSIC
low complexity region 2165 2183 N/A INTRINSIC
low complexity region 2234 2247 N/A INTRINSIC
low complexity region 2285 2315 N/A INTRINSIC
low complexity region 2368 2389 N/A INTRINSIC
low complexity region 2393 2408 N/A INTRINSIC
low complexity region 2410 2451 N/A INTRINSIC
PLEC 2490 2527 2.99e1 SMART
PLEC 2528 2565 4.49e-7 SMART
PLEC 2566 2603 4.49e-7 SMART
PLEC 2604 2641 3.54e-5 SMART
PLEC 2642 2679 3.27e-9 SMART
PLEC 2683 2717 6.31e-2 SMART
low complexity region 2788 2806 N/A INTRINSIC
PLEC 2818 2855 3.84e0 SMART
PLEC 2856 2893 1.59e-7 SMART
PLEC 2894 2931 3.54e-5 SMART
PLEC 2932 2969 8.64e-9 SMART
PLEC 2970 3007 1.53e-9 SMART
PLEC 3010 3045 2.18e2 SMART
low complexity region 3117 3136 N/A INTRINSIC
PLEC 3187 3224 3.22e-8 SMART
PLEC 3225 3262 7.82e-7 SMART
PLEC 3263 3300 1.9e-5 SMART
PLEC 3301 3338 7.01e-9 SMART
PLEC 3342 3376 3.38e-2 SMART
low complexity region 3388 3409 N/A INTRINSIC
low complexity region 3415 3425 N/A INTRINSIC
low complexity region 3458 3471 N/A INTRINSIC
PLEC 3522 3559 1.22e-8 SMART
PLEC 3560 3597 1.26e-10 SMART
PLEC 3598 3635 2.24e-7 SMART
PLEC 3636 3673 1.82e-7 SMART
PLEC 3677 3710 5.49e1 SMART
PLEC 3714 3747 3.2e2 SMART
PLEC 3765 3802 8.77e-10 SMART
PLEC 3803 3840 4.13e-6 SMART
PLEC 3841 3878 3.03e-4 SMART
PLEC 3879 3916 4.77e-11 SMART
PLEC 3920 3954 1.28e-2 SMART
PLEC 3967 4007 1.05e-7 SMART
low complexity region 4009 4019 N/A INTRINSIC
PLEC 4021 4058 1.73e1 SMART
low complexity region 4084 4099 N/A INTRINSIC
PLEC 4110 4147 3.65e-7 SMART
PLEC 4148 4185 9.99e-14 SMART
PLEC 4186 4223 4.71e-1 SMART
PLEC 4224 4261 2.44e-8 SMART
PLEC 4262 4299 2.87e-5 SMART
low complexity region 4309 4344 N/A INTRINSIC
low complexity region 4347 4373 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000089610
AA Change: D2565G

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000087037
Gene: ENSMUSG00000022565
AA Change: D2565G

DomainStartEndE-ValueType
low complexity region 16 28 N/A INTRINSIC
low complexity region 40 54 N/A INTRINSIC
CH 73 189 1.46e-26 SMART
CH 206 304 3.52e-20 SMART
internal_repeat_2 339 421 1.38e-5 PROSPERO
internal_repeat_2 415 497 1.38e-5 PROSPERO
SPEC 562 659 3.08e-5 SMART
SPEC 662 762 1.29e-7 SMART
SPEC 768 930 3.01e0 SMART
low complexity region 1009 1023 N/A INTRINSIC
SPEC 1026 1132 3.48e0 SMART
SPEC 1135 1246 7.63e-1 SMART
SPEC 1253 1413 2.59e-1 SMART
low complexity region 1417 1457 N/A INTRINSIC
low complexity region 1484 1501 N/A INTRINSIC
low complexity region 1514 1545 N/A INTRINSIC
low complexity region 1556 1605 N/A INTRINSIC
low complexity region 1647 1676 N/A INTRINSIC
low complexity region 1701 1726 N/A INTRINSIC
low complexity region 1764 1785 N/A INTRINSIC
low complexity region 1812 1876 N/A INTRINSIC
low complexity region 1892 1917 N/A INTRINSIC
low complexity region 1978 1992 N/A INTRINSIC
low complexity region 2006 2032 N/A INTRINSIC
low complexity region 2062 2096 N/A INTRINSIC
low complexity region 2102 2116 N/A INTRINSIC
low complexity region 2123 2151 N/A INTRINSIC
low complexity region 2160 2209 N/A INTRINSIC
low complexity region 2226 2241 N/A INTRINSIC
low complexity region 2329 2345 N/A INTRINSIC
low complexity region 2368 2386 N/A INTRINSIC
low complexity region 2437 2450 N/A INTRINSIC
low complexity region 2488 2518 N/A INTRINSIC
low complexity region 2571 2592 N/A INTRINSIC
low complexity region 2596 2611 N/A INTRINSIC
low complexity region 2613 2654 N/A INTRINSIC
PLEC 2693 2730 2.99e1 SMART
PLEC 2731 2768 4.49e-7 SMART
PLEC 2769 2806 4.49e-7 SMART
PLEC 2807 2844 3.54e-5 SMART
PLEC 2845 2882 3.27e-9 SMART
PLEC 2886 2920 6.31e-2 SMART
low complexity region 2991 3009 N/A INTRINSIC
PLEC 3021 3058 3.84e0 SMART
PLEC 3059 3096 1.59e-7 SMART
PLEC 3097 3134 3.54e-5 SMART
PLEC 3135 3172 8.64e-9 SMART
PLEC 3173 3210 1.53e-9 SMART
PLEC 3213 3248 2.18e2 SMART
low complexity region 3320 3339 N/A INTRINSIC
PLEC 3390 3427 3.22e-8 SMART
PLEC 3428 3465 7.82e-7 SMART
PLEC 3466 3503 1.9e-5 SMART
PLEC 3504 3541 7.01e-9 SMART
PLEC 3545 3579 3.38e-2 SMART
low complexity region 3591 3612 N/A INTRINSIC
low complexity region 3618 3628 N/A INTRINSIC
low complexity region 3661 3674 N/A INTRINSIC
PLEC 3725 3762 1.22e-8 SMART
PLEC 3763 3800 1.26e-10 SMART
PLEC 3801 3838 2.24e-7 SMART
PLEC 3839 3876 1.82e-7 SMART
PLEC 3880 3913 5.49e1 SMART
PLEC 3917 3950 3.2e2 SMART
PLEC 3968 4005 8.77e-10 SMART
PLEC 4006 4043 4.13e-6 SMART
PLEC 4044 4081 3.03e-4 SMART
PLEC 4082 4119 4.77e-11 SMART
PLEC 4123 4157 1.28e-2 SMART
PLEC 4170 4210 1.05e-7 SMART
low complexity region 4212 4222 N/A INTRINSIC
PLEC 4224 4261 1.73e1 SMART
low complexity region 4287 4302 N/A INTRINSIC
PLEC 4313 4350 3.65e-7 SMART
PLEC 4351 4388 9.99e-14 SMART
PLEC 4389 4426 4.71e-1 SMART
PLEC 4427 4464 2.44e-8 SMART
PLEC 4465 4502 2.87e-5 SMART
low complexity region 4512 4547 N/A INTRINSIC
low complexity region 4550 4576 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165210
SMART Domains Protein: ENSMUSP00000130048
Gene: ENSMUSG00000022565

DomainStartEndE-ValueType
SPEC 21 183 3.01e0 SMART
low complexity region 262 276 N/A INTRINSIC
SPEC 279 385 1.83e0 SMART
SPEC 388 499 7.63e-1 SMART
SPEC 506 634 8.96e-2 SMART
low complexity region 640 652 N/A INTRINSIC
coiled coil region 670 784 N/A INTRINSIC
PLEC 819 856 2.99e1 SMART
PLEC 857 894 4.49e-7 SMART
PLEC 895 932 4.49e-7 SMART
PLEC 933 970 3.54e-5 SMART
PLEC 971 1008 3.27e-9 SMART
PLEC 1012 1046 6.31e-2 SMART
low complexity region 1117 1135 N/A INTRINSIC
PLEC 1147 1184 3.84e0 SMART
PLEC 1185 1222 1.59e-7 SMART
PLEC 1223 1260 3.54e-5 SMART
PLEC 1261 1298 8.64e-9 SMART
PLEC 1299 1336 1.53e-9 SMART
PLEC 1339 1374 2.18e2 SMART
low complexity region 1446 1465 N/A INTRINSIC
PLEC 1516 1553 3.22e-8 SMART
PLEC 1554 1591 7.82e-7 SMART
PLEC 1592 1629 1.9e-5 SMART
Pfam:Plectin 1631 1646 3.1e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000169108
AA Change: D2487G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126068
Gene: ENSMUSG00000022565
AA Change: D2487G

DomainStartEndE-ValueType
CH 12 111 4.57e-28 SMART
CH 128 226 3.52e-20 SMART
internal_repeat_2 261 343 1.31e-5 PROSPERO
internal_repeat_2 337 419 1.31e-5 PROSPERO
SPEC 484 581 3.08e-5 SMART
SPEC 584 684 1.29e-7 SMART
SPEC 690 852 3.01e0 SMART
low complexity region 931 945 N/A INTRINSIC
SPEC 948 1054 3.48e0 SMART
SPEC 1057 1168 7.63e-1 SMART
SPEC 1175 1335 2.59e-1 SMART
low complexity region 1339 1379 N/A INTRINSIC
low complexity region 1406 1423 N/A INTRINSIC
low complexity region 1436 1467 N/A INTRINSIC
low complexity region 1478 1527 N/A INTRINSIC
low complexity region 1569 1598 N/A INTRINSIC
low complexity region 1623 1648 N/A INTRINSIC
low complexity region 1686 1707 N/A INTRINSIC
low complexity region 1734 1798 N/A INTRINSIC
low complexity region 1814 1839 N/A INTRINSIC
low complexity region 1900 1914 N/A INTRINSIC
low complexity region 1928 1954 N/A INTRINSIC
low complexity region 1984 2018 N/A INTRINSIC
low complexity region 2024 2038 N/A INTRINSIC
low complexity region 2045 2073 N/A INTRINSIC
low complexity region 2082 2131 N/A INTRINSIC
low complexity region 2148 2163 N/A INTRINSIC
low complexity region 2251 2267 N/A INTRINSIC
low complexity region 2290 2308 N/A INTRINSIC
low complexity region 2359 2372 N/A INTRINSIC
low complexity region 2410 2440 N/A INTRINSIC
low complexity region 2493 2514 N/A INTRINSIC
low complexity region 2518 2533 N/A INTRINSIC
low complexity region 2535 2576 N/A INTRINSIC
PLEC 2615 2652 2.99e1 SMART
PLEC 2653 2690 4.49e-7 SMART
PLEC 2691 2728 4.49e-7 SMART
PLEC 2729 2766 3.54e-5 SMART
PLEC 2767 2804 3.27e-9 SMART
PLEC 2808 2842 6.31e-2 SMART
low complexity region 2913 2931 N/A INTRINSIC
PLEC 2943 2980 3.84e0 SMART
PLEC 2981 3018 1.59e-7 SMART
PLEC 3019 3056 3.54e-5 SMART
PLEC 3057 3094 8.64e-9 SMART
PLEC 3095 3132 1.53e-9 SMART
PLEC 3135 3170 2.18e2 SMART
low complexity region 3242 3261 N/A INTRINSIC
PLEC 3312 3349 3.22e-8 SMART
PLEC 3350 3387 7.82e-7 SMART
PLEC 3388 3425 1.9e-5 SMART
PLEC 3426 3463 7.01e-9 SMART
PLEC 3467 3501 3.38e-2 SMART
low complexity region 3513 3534 N/A INTRINSIC
low complexity region 3540 3550 N/A INTRINSIC
low complexity region 3583 3596 N/A INTRINSIC
PLEC 3647 3684 1.22e-8 SMART
PLEC 3685 3722 1.26e-10 SMART
PLEC 3723 3760 2.24e-7 SMART
PLEC 3761 3798 1.82e-7 SMART
PLEC 3802 3835 5.49e1 SMART
PLEC 3839 3872 3.2e2 SMART
PLEC 3890 3927 8.77e-10 SMART
PLEC 3928 3965 4.13e-6 SMART
PLEC 3966 4003 3.03e-4 SMART
PLEC 4004 4041 4.77e-11 SMART
PLEC 4045 4079 1.28e-2 SMART
PLEC 4092 4132 1.05e-7 SMART
low complexity region 4134 4144 N/A INTRINSIC
PLEC 4146 4183 1.73e1 SMART
low complexity region 4209 4224 N/A INTRINSIC
PLEC 4235 4272 3.65e-7 SMART
PLEC 4273 4310 9.99e-14 SMART
PLEC 4311 4348 4.71e-1 SMART
PLEC 4349 4386 2.44e-8 SMART
PLEC 4387 4424 2.87e-5 SMART
low complexity region 4434 4469 N/A INTRINSIC
low complexity region 4472 4498 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000169438
AA Change: D2362G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127261
Gene: ENSMUSG00000022565
AA Change: D2362G

DomainStartEndE-ValueType
CH 3 101 3.52e-20 SMART
internal_repeat_2 136 218 8.51e-6 PROSPERO
internal_repeat_2 212 294 8.51e-6 PROSPERO
SPEC 359 456 3.08e-5 SMART
SPEC 459 559 1.29e-7 SMART
SPEC 565 727 3.01e0 SMART
low complexity region 806 820 N/A INTRINSIC
SPEC 823 929 3.48e0 SMART
SPEC 932 1043 7.63e-1 SMART
SPEC 1050 1210 2.59e-1 SMART
low complexity region 1214 1254 N/A INTRINSIC
low complexity region 1281 1298 N/A INTRINSIC
low complexity region 1311 1342 N/A INTRINSIC
low complexity region 1353 1402 N/A INTRINSIC
low complexity region 1444 1473 N/A INTRINSIC
low complexity region 1498 1523 N/A INTRINSIC
low complexity region 1561 1582 N/A INTRINSIC
low complexity region 1609 1673 N/A INTRINSIC
low complexity region 1689 1714 N/A INTRINSIC
low complexity region 1775 1789 N/A INTRINSIC
low complexity region 1803 1829 N/A INTRINSIC
low complexity region 1859 1893 N/A INTRINSIC
low complexity region 1899 1913 N/A INTRINSIC
low complexity region 1920 1948 N/A INTRINSIC
low complexity region 1957 2006 N/A INTRINSIC
low complexity region 2023 2038 N/A INTRINSIC
low complexity region 2126 2142 N/A INTRINSIC
low complexity region 2165 2183 N/A INTRINSIC
low complexity region 2234 2247 N/A INTRINSIC
low complexity region 2285 2315 N/A INTRINSIC
low complexity region 2368 2389 N/A INTRINSIC
low complexity region 2393 2408 N/A INTRINSIC
low complexity region 2410 2451 N/A INTRINSIC
PLEC 2490 2527 2.99e1 SMART
PLEC 2528 2565 4.49e-7 SMART
PLEC 2566 2603 4.49e-7 SMART
PLEC 2604 2641 3.54e-5 SMART
PLEC 2642 2679 3.27e-9 SMART
PLEC 2683 2717 6.31e-2 SMART
low complexity region 2788 2806 N/A INTRINSIC
PLEC 2818 2855 3.84e0 SMART
PLEC 2856 2893 1.59e-7 SMART
PLEC 2894 2931 3.54e-5 SMART
PLEC 2932 2969 8.64e-9 SMART
PLEC 2970 3007 1.53e-9 SMART
PLEC 3010 3045 2.18e2 SMART
low complexity region 3117 3136 N/A INTRINSIC
PLEC 3187 3224 3.22e-8 SMART
PLEC 3225 3262 7.82e-7 SMART
PLEC 3263 3300 1.9e-5 SMART
PLEC 3301 3338 7.01e-9 SMART
PLEC 3342 3376 3.38e-2 SMART
low complexity region 3388 3409 N/A INTRINSIC
low complexity region 3415 3425 N/A INTRINSIC
low complexity region 3458 3471 N/A INTRINSIC
PLEC 3522 3559 1.22e-8 SMART
PLEC 3560 3597 1.26e-10 SMART
PLEC 3598 3635 2.24e-7 SMART
PLEC 3636 3673 1.82e-7 SMART
PLEC 3677 3710 5.49e1 SMART
PLEC 3714 3747 3.2e2 SMART
PLEC 3765 3802 8.77e-10 SMART
PLEC 3803 3840 4.13e-6 SMART
PLEC 3841 3878 3.03e-4 SMART
PLEC 3879 3916 4.77e-11 SMART
PLEC 3920 3954 1.28e-2 SMART
PLEC 3967 4007 1.05e-7 SMART
low complexity region 4009 4019 N/A INTRINSIC
PLEC 4021 4058 1.73e1 SMART
low complexity region 4084 4099 N/A INTRINSIC
PLEC 4110 4147 3.65e-7 SMART
PLEC 4148 4185 9.99e-14 SMART
PLEC 4186 4223 4.71e-1 SMART
PLEC 4224 4261 2.44e-8 SMART
PLEC 4262 4299 2.87e-5 SMART
low complexity region 4309 4344 N/A INTRINSIC
low complexity region 4347 4373 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000169714
AA Change: D2519G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126526
Gene: ENSMUSG00000022565
AA Change: D2519G

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
CH 44 143 4.57e-28 SMART
CH 160 258 3.52e-20 SMART
internal_repeat_2 293 375 1.36e-5 PROSPERO
internal_repeat_2 369 451 1.36e-5 PROSPERO
SPEC 516 613 3.08e-5 SMART
SPEC 616 716 1.29e-7 SMART
SPEC 722 884 3.01e0 SMART
low complexity region 963 977 N/A INTRINSIC
SPEC 980 1086 3.48e0 SMART
SPEC 1089 1200 7.63e-1 SMART
SPEC 1207 1367 2.59e-1 SMART
low complexity region 1371 1411 N/A INTRINSIC
low complexity region 1438 1455 N/A INTRINSIC
low complexity region 1468 1499 N/A INTRINSIC
low complexity region 1510 1559 N/A INTRINSIC
low complexity region 1601 1630 N/A INTRINSIC
low complexity region 1655 1680 N/A INTRINSIC
low complexity region 1718 1739 N/A INTRINSIC
low complexity region 1766 1830 N/A INTRINSIC
low complexity region 1846 1871 N/A INTRINSIC
low complexity region 1932 1946 N/A INTRINSIC
low complexity region 1960 1986 N/A INTRINSIC
low complexity region 2016 2050 N/A INTRINSIC
low complexity region 2056 2070 N/A INTRINSIC
low complexity region 2077 2105 N/A INTRINSIC
low complexity region 2114 2163 N/A INTRINSIC
low complexity region 2180 2195 N/A INTRINSIC
low complexity region 2283 2299 N/A INTRINSIC
low complexity region 2322 2340 N/A INTRINSIC
low complexity region 2391 2404 N/A INTRINSIC
low complexity region 2442 2472 N/A INTRINSIC
low complexity region 2525 2546 N/A INTRINSIC
low complexity region 2550 2565 N/A INTRINSIC
low complexity region 2567 2608 N/A INTRINSIC
PLEC 2647 2684 2.99e1 SMART
PLEC 2685 2722 4.49e-7 SMART
PLEC 2723 2760 4.49e-7 SMART
PLEC 2761 2798 3.54e-5 SMART
PLEC 2799 2836 3.27e-9 SMART
PLEC 2840 2874 6.31e-2 SMART
low complexity region 2945 2963 N/A INTRINSIC
PLEC 2975 3012 3.84e0 SMART
PLEC 3013 3050 1.59e-7 SMART
PLEC 3051 3088 3.54e-5 SMART
PLEC 3089 3126 8.64e-9 SMART
PLEC 3127 3164 1.53e-9 SMART
PLEC 3167 3202 2.18e2 SMART
low complexity region 3274 3293 N/A INTRINSIC
PLEC 3344 3381 3.22e-8 SMART
PLEC 3382 3419 7.82e-7 SMART
PLEC 3420 3457 1.9e-5 SMART
PLEC 3458 3495 7.01e-9 SMART
PLEC 3499 3533 3.38e-2 SMART
low complexity region 3545 3566 N/A INTRINSIC
low complexity region 3572 3582 N/A INTRINSIC
low complexity region 3615 3628 N/A INTRINSIC
PLEC 3679 3716 1.22e-8 SMART
PLEC 3717 3754 1.26e-10 SMART
PLEC 3755 3792 2.24e-7 SMART
PLEC 3793 3830 1.82e-7 SMART
PLEC 3834 3867 5.49e1 SMART
PLEC 3871 3904 3.2e2 SMART
PLEC 3922 3959 8.77e-10 SMART
PLEC 3960 3997 4.13e-6 SMART
PLEC 3998 4035 3.03e-4 SMART
PLEC 4036 4073 4.77e-11 SMART
PLEC 4077 4111 1.28e-2 SMART
PLEC 4124 4164 1.05e-7 SMART
low complexity region 4166 4176 N/A INTRINSIC
PLEC 4178 4215 1.73e1 SMART
low complexity region 4241 4256 N/A INTRINSIC
PLEC 4267 4304 3.65e-7 SMART
PLEC 4305 4342 9.99e-14 SMART
PLEC 4343 4380 4.71e-1 SMART
PLEC 4381 4418 2.44e-8 SMART
PLEC 4419 4456 2.87e-5 SMART
low complexity region 4466 4501 N/A INTRINSIC
low complexity region 4504 4530 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000171562
AA Change: D2362G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129543
Gene: ENSMUSG00000022565
AA Change: D2362G