Incidental Mutation 'R1911:Srcap'
ID 210271
Institutional Source Beutler Lab
Gene Symbol Srcap
Ensembl Gene ENSMUSG00000053877
Gene Name Snf2-related CREBBP activator protein
Synonyms D030022P06Rik, B930091H02Rik, F630004O05Rik
MMRRC Submission 039929-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # R1911 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 127111155-127160391 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127133994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 905 (I905T)
Ref Sequence ENSEMBL: ENSMUSP00000140395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066582] [ENSMUST00000186672] [ENSMUST00000186954] [ENSMUST00000187040] [ENSMUST00000189629] [ENSMUST00000190390]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000066582
AA Change: I885T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063817
Gene: ENSMUSG00000053877
AA Change: I885T

DomainStartEndE-ValueType
Pfam:HSA 108 177 1.1e-22 PFAM
low complexity region 238 261 N/A INTRINSIC
low complexity region 264 291 N/A INTRINSIC
low complexity region 303 328 N/A INTRINSIC
low complexity region 377 400 N/A INTRINSIC
low complexity region 460 538 N/A INTRINSIC
low complexity region 557 572 N/A INTRINSIC
DEXDc 606 798 1.22e-34 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000186672
AA Change: I905T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140395
Gene: ENSMUSG00000053877
AA Change: I905T

DomainStartEndE-ValueType
low complexity region 26 48 N/A INTRINSIC
HSA 125 196 5.4e-25 SMART
low complexity region 257 280 N/A INTRINSIC
low complexity region 283 310 N/A INTRINSIC
low complexity region 322 347 N/A INTRINSIC
low complexity region 396 420 N/A INTRINSIC
low complexity region 480 558 N/A INTRINSIC
low complexity region 577 592 N/A INTRINSIC
DEXDc 626 818 5e-37 SMART
low complexity region 993 1001 N/A INTRINSIC
low complexity region 1027 1042 N/A INTRINSIC
low complexity region 1046 1063 N/A INTRINSIC
low complexity region 1120 1143 N/A INTRINSIC
low complexity region 1150 1178 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000186954
AA Change: I905T

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000139536
Gene: ENSMUSG00000053877
AA Change: I905T

DomainStartEndE-ValueType
low complexity region 26 48 N/A INTRINSIC
HSA 125 196 5.4e-25 SMART
low complexity region 257 280 N/A INTRINSIC
low complexity region 283 310 N/A INTRINSIC
low complexity region 322 347 N/A INTRINSIC
low complexity region 396 420 N/A INTRINSIC
low complexity region 480 558 N/A INTRINSIC
low complexity region 577 592 N/A INTRINSIC
DEXDc 626 818 5e-37 SMART
low complexity region 993 1001 N/A INTRINSIC
low complexity region 1027 1042 N/A INTRINSIC
low complexity region 1046 1063 N/A INTRINSIC
low complexity region 1175 1194 N/A INTRINSIC
internal_repeat_1 1202 1245 2.24e-5 PROSPERO
low complexity region 1274 1302 N/A INTRINSIC
low complexity region 1304 1318 N/A INTRINSIC
low complexity region 1335 1353 N/A INTRINSIC
low complexity region 1355 1370 N/A INTRINSIC
low complexity region 1414 1441 N/A INTRINSIC
low complexity region 1452 1466 N/A INTRINSIC
low complexity region 1504 1533 N/A INTRINSIC
internal_repeat_1 1536 1579 2.24e-5 PROSPERO
internal_repeat_2 1537 1559 5.66e-5 PROSPERO
internal_repeat_2 1569 1589 5.66e-5 PROSPERO
low complexity region 1590 1607 N/A INTRINSIC
low complexity region 1609 1627 N/A INTRINSIC
low complexity region 1644 1678 N/A INTRINSIC
low complexity region 1713 1726 N/A INTRINSIC
low complexity region 1828 1840 N/A INTRINSIC
HELICc 1916 1999 1.2e-28 SMART
low complexity region 2058 2078 N/A INTRINSIC
coiled coil region 2166 2201 N/A INTRINSIC
low complexity region 2282 2348 N/A INTRINSIC
low complexity region 2374 2409 N/A INTRINSIC
low complexity region 2588 2600 N/A INTRINSIC
low complexity region 2642 2657 N/A INTRINSIC
low complexity region 2685 2712 N/A INTRINSIC
AT_hook 2745 2757 2.4e-2 SMART
low complexity region 2797 2817 N/A INTRINSIC
AT_hook 2825 2837 2.6e-3 SMART
low complexity region 2838 2849 N/A INTRINSIC
low complexity region 2858 2885 N/A INTRINSIC
AT_hook 2889 2901 2.4e-3 SMART
low complexity region 2934 2945 N/A INTRINSIC
low complexity region 2946 2956 N/A INTRINSIC
low complexity region 3043 3079 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000187040
AA Change: I905T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140036
Gene: ENSMUSG00000053877
AA Change: I905T

DomainStartEndE-ValueType
low complexity region 26 48 N/A INTRINSIC
HSA 125 196 5.4e-25 SMART
low complexity region 257 280 N/A INTRINSIC
low complexity region 283 310 N/A INTRINSIC
low complexity region 322 347 N/A INTRINSIC
low complexity region 396 420 N/A INTRINSIC
low complexity region 480 558 N/A INTRINSIC
low complexity region 577 592 N/A INTRINSIC
DEXDc 626 818 5e-37 SMART
low complexity region 993 1001 N/A INTRINSIC
low complexity region 1027 1042 N/A INTRINSIC
low complexity region 1046 1063 N/A INTRINSIC
low complexity region 1120 1143 N/A INTRINSIC
low complexity region 1150 1178 N/A INTRINSIC
low complexity region 1277 1305 N/A INTRINSIC
low complexity region 1332 1351 N/A INTRINSIC
internal_repeat_1 1359 1402 1.78e-5 PROSPERO
low complexity region 1431 1459 N/A INTRINSIC
low complexity region 1461 1475 N/A INTRINSIC
low complexity region 1492 1510 N/A INTRINSIC
low complexity region 1512 1527 N/A INTRINSIC
low complexity region 1571 1598 N/A INTRINSIC
low complexity region 1609 1623 N/A INTRINSIC
low complexity region 1661 1690 N/A INTRINSIC
internal_repeat_1 1693 1736 1.78e-5 PROSPERO
internal_repeat_2 1694 1716 4.56e-5 PROSPERO
internal_repeat_2 1726 1746 4.56e-5 PROSPERO
low complexity region 1747 1764 N/A INTRINSIC
low complexity region 1766 1784 N/A INTRINSIC
low complexity region 1801 1835 N/A INTRINSIC
low complexity region 1870 1883 N/A INTRINSIC
low complexity region 1985 1997 N/A INTRINSIC
HELICc 2073 2156 1.2e-28 SMART
low complexity region 2215 2235 N/A INTRINSIC
coiled coil region 2323 2358 N/A INTRINSIC
low complexity region 2439 2505 N/A INTRINSIC
low complexity region 2531 2566 N/A INTRINSIC
low complexity region 2745 2757 N/A INTRINSIC
low complexity region 2799 2814 N/A INTRINSIC
low complexity region 2842 2869 N/A INTRINSIC
AT_hook 2902 2914 2.4e-2 SMART
low complexity region 2954 2974 N/A INTRINSIC
AT_hook 2982 2994 2.6e-3 SMART
low complexity region 2995 3006 N/A INTRINSIC
low complexity region 3015 3042 N/A INTRINSIC
AT_hook 3046 3058 2.4e-3 SMART
low complexity region 3091 3102 N/A INTRINSIC
low complexity region 3103 3113 N/A INTRINSIC
low complexity region 3200 3236 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187164
Predicted Effect possibly damaging
Transcript: ENSMUST00000189629
AA Change: I886T

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000139644
Gene: ENSMUSG00000107023
AA Change: I886T

DomainStartEndE-ValueType
low complexity region 7 29 N/A INTRINSIC
HSA 106 177 5.4e-25 SMART
low complexity region 238 261 N/A INTRINSIC
low complexity region 264 291 N/A INTRINSIC
low complexity region 303 328 N/A INTRINSIC
low complexity region 377 401 N/A INTRINSIC
low complexity region 461 539 N/A INTRINSIC
low complexity region 558 573 N/A INTRINSIC
DEXDc 607 799 5e-37 SMART
low complexity region 974 982 N/A INTRINSIC
low complexity region 1008 1023 N/A INTRINSIC
low complexity region 1027 1044 N/A INTRINSIC
low complexity region 1156 1175 N/A INTRINSIC
internal_repeat_1 1183 1226 2e-5 PROSPERO
low complexity region 1255 1283 N/A INTRINSIC
low complexity region 1285 1299 N/A INTRINSIC
low complexity region 1316 1334 N/A INTRINSIC
low complexity region 1336 1351 N/A INTRINSIC
low complexity region 1395 1422 N/A INTRINSIC
low complexity region 1433 1447 N/A INTRINSIC
low complexity region 1485 1514 N/A INTRINSIC
internal_repeat_1 1517 1560 2e-5 PROSPERO
internal_repeat_2 1518 1540 5.08e-5 PROSPERO
internal_repeat_2 1550 1570 5.08e-5 PROSPERO
low complexity region 1571 1588 N/A INTRINSIC
low complexity region 1590 1608 N/A INTRINSIC
low complexity region 1625 1659 N/A INTRINSIC
low complexity region 1694 1707 N/A INTRINSIC
low complexity region 1809 1821 N/A INTRINSIC
HELICc 1897 1980 1.2e-28 SMART
low complexity region 2039 2059 N/A INTRINSIC
coiled coil region 2147 2182 N/A INTRINSIC
low complexity region 2263 2329 N/A INTRINSIC
low complexity region 2355 2390 N/A INTRINSIC
low complexity region 2569 2581 N/A INTRINSIC
low complexity region 2623 2638 N/A INTRINSIC
low complexity region 2666 2693 N/A INTRINSIC
AT_hook 2726 2738 2.4e-2 SMART
low complexity region 2778 2798 N/A INTRINSIC
AT_hook 2806 2818 2.6e-3 SMART
low complexity region 2819 2830 N/A INTRINSIC
low complexity region 2839 2866 N/A INTRINSIC
AT_hook 2870 2882 2.4e-3 SMART
low complexity region 2915 2926 N/A INTRINSIC
low complexity region 2927 2937 N/A INTRINSIC
low complexity region 3024 3060 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000190390
AA Change: I905T

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139399
Gene: ENSMUSG00000053877
AA Change: I905T

DomainStartEndE-ValueType
low complexity region 26 48 N/A INTRINSIC
HSA 125 196 5.4e-25 SMART
low complexity region 257 280 N/A INTRINSIC
low complexity region 283 310 N/A INTRINSIC
low complexity region 322 347 N/A INTRINSIC
low complexity region 396 420 N/A INTRINSIC
low complexity region 480 558 N/A INTRINSIC
low complexity region 577 592 N/A INTRINSIC
DEXDc 626 818 5e-37 SMART
low complexity region 993 1001 N/A INTRINSIC
low complexity region 1027 1042 N/A INTRINSIC
low complexity region 1046 1063 N/A INTRINSIC
low complexity region 1120 1143 N/A INTRINSIC
low complexity region 1150 1178 N/A INTRINSIC
low complexity region 1271 1290 N/A INTRINSIC
internal_repeat_1 1298 1341 2.01e-5 PROSPERO
low complexity region 1370 1398 N/A INTRINSIC
low complexity region 1400 1414 N/A INTRINSIC
low complexity region 1431 1449 N/A INTRINSIC
low complexity region 1451 1466 N/A INTRINSIC
low complexity region 1510 1537 N/A INTRINSIC
low complexity region 1548 1562 N/A INTRINSIC
low complexity region 1600 1629 N/A INTRINSIC
internal_repeat_1 1632 1675 2.01e-5 PROSPERO
internal_repeat_2 1633 1655 5.11e-5 PROSPERO
internal_repeat_2 1665 1685 5.11e-5 PROSPERO
low complexity region 1686 1703 N/A INTRINSIC
low complexity region 1705 1723 N/A INTRINSIC
low complexity region 1740 1774 N/A INTRINSIC
low complexity region 1809 1822 N/A INTRINSIC
low complexity region 1924 1936 N/A INTRINSIC
HELICc 2012 2095 1.2e-28 SMART
low complexity region 2154 2174 N/A INTRINSIC
coiled coil region 2262 2297 N/A INTRINSIC
low complexity region 2378 2444 N/A INTRINSIC
low complexity region 2470 2505 N/A INTRINSIC
low complexity region 2684 2696 N/A INTRINSIC
low complexity region 2738 2753 N/A INTRINSIC
low complexity region 2781 2808 N/A INTRINSIC
AT_hook 2841 2853 2.4e-2 SMART
low complexity region 2893 2913 N/A INTRINSIC
AT_hook 2921 2933 2.6e-3 SMART
low complexity region 2934 2945 N/A INTRINSIC
low complexity region 2954 2981 N/A INTRINSIC
AT_hook 2985 2997 2.4e-3 SMART
low complexity region 3030 3041 N/A INTRINSIC
low complexity region 3042 3052 N/A INTRINSIC
low complexity region 3139 3175 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189812
Meta Mutation Damage Score 0.3843 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.2%
Validation Efficiency 99% (99/100)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T A 6: 91,927,050 (GRCm39) probably benign Het
Abca7 T C 10: 79,842,468 (GRCm39) V1134A probably benign Het
Acaa2 A G 18: 74,925,483 (GRCm39) E82G probably benign Het
Acap1 T C 11: 69,772,548 (GRCm39) D521G probably damaging Het
Adam19 T C 11: 46,012,281 (GRCm39) V259A probably damaging Het
Adss1 T C 12: 112,599,443 (GRCm39) V140A probably benign Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Aldh3b1 T G 19: 3,971,187 (GRCm39) D159A probably damaging Het
Ank1 T C 8: 23,589,666 (GRCm39) V589A probably damaging Het
Ano2 G A 6: 125,990,654 (GRCm39) D803N probably benign Het
Arid1b A G 17: 5,393,241 (GRCm39) E2257G probably damaging Het
Asb17 T C 3: 153,550,138 (GRCm39) Y57H probably benign Het
Asph T C 4: 9,453,335 (GRCm39) E646G probably damaging Het
Aspm T A 1: 139,405,832 (GRCm39) I1573K probably benign Het
Bcas1 C A 2: 170,229,863 (GRCm39) D236Y probably damaging Het
Bcas2 G T 3: 103,079,113 (GRCm39) G9* probably null Het
Btaf1 A G 19: 36,964,030 (GRCm39) Q867R probably benign Het
Calhm3 C T 19: 47,143,908 (GRCm39) V132I possibly damaging Het
Ccer1 A T 10: 97,530,539 (GRCm39) I401F possibly damaging Het
Cdcp3 T C 7: 130,839,818 (GRCm39) V580A probably damaging Het
Cecr2 T A 6: 120,739,526 (GRCm39) probably benign Het
Cep104 G A 4: 154,091,255 (GRCm39) R925Q possibly damaging Het
Cep164 T A 9: 45,682,104 (GRCm39) M1900L probably benign Het
Crybg1 A G 10: 43,873,673 (GRCm39) V1145A possibly damaging Het
Cyp2a4 T A 7: 26,008,399 (GRCm39) N180K possibly damaging Het
Dennd4a T C 9: 64,796,368 (GRCm39) L798P probably damaging Het
Dmxl1 T C 18: 50,011,230 (GRCm39) I1129T probably benign Het
Dnah2 T C 11: 69,406,578 (GRCm39) N555D possibly damaging Het
Dock1 T A 7: 134,601,029 (GRCm39) M988K probably damaging Het
Elp4 T A 2: 105,533,088 (GRCm39) H419L probably damaging Het
Endov T C 11: 119,393,177 (GRCm39) V109A possibly damaging Het
Epha8 T C 4: 136,663,625 (GRCm39) Y477C probably damaging Het
Erlin1 A G 19: 44,037,561 (GRCm39) M188T probably damaging Het
Fhip1a T A 3: 85,568,525 (GRCm39) D998V probably benign Het
Fhod3 A T 18: 25,245,643 (GRCm39) D1231V possibly damaging Het
Gimap3 T A 6: 48,742,646 (GRCm39) I95F possibly damaging Het
Gm10717 T G 9: 3,026,317 (GRCm39) F205C probably damaging Het
Grk1 C A 8: 13,457,923 (GRCm39) D274E probably damaging Het
Gsdmc2 G A 15: 63,699,621 (GRCm39) A269V probably benign Het
Krt33a T A 11: 99,903,175 (GRCm39) Q289L probably benign Het
Krt76 T A 15: 101,796,600 (GRCm39) K403* probably null Het
Lcn4 T C 2: 26,560,607 (GRCm39) probably benign Het
Mab21l1 T C 3: 55,691,048 (GRCm39) S212P possibly damaging Het
Mapk8ip3 A C 17: 25,123,025 (GRCm39) D610E probably benign Het
Mastl G T 2: 23,022,692 (GRCm39) S677* probably null Het
Mfap3 T C 11: 57,420,562 (GRCm39) F181S probably damaging Het
Mlkl T C 8: 112,038,732 (GRCm39) probably benign Het
Mov10 G A 3: 104,708,876 (GRCm39) probably benign Het
Muc5ac T C 7: 141,350,041 (GRCm39) F595L probably benign Het
Nbas T A 12: 13,616,145 (GRCm39) C2228S probably benign Het
Nit2 G A 16: 56,982,046 (GRCm39) probably benign Het
Nod1 C T 6: 54,921,425 (GRCm39) V298M probably damaging Het
Or3a4 C A 11: 73,945,210 (GRCm39) R125L probably damaging Het
Or4c111 A G 2: 88,843,565 (GRCm39) L281P probably damaging Het
Or52b1 T A 7: 104,978,590 (GRCm39) I270F probably benign Het
Or6c210 A T 10: 129,495,981 (GRCm39) D102V probably benign Het
Or7g12 T C 9: 18,900,196 (GRCm39) L304P probably damaging Het
Osbpl5 C A 7: 143,243,662 (GRCm39) R864L probably benign Het
Pcnt G A 10: 76,204,650 (GRCm39) T2585M possibly damaging Het
Pepd C T 7: 34,634,174 (GRCm39) probably benign Het
Pou6f2 T C 13: 18,326,548 (GRCm39) I341V probably damaging Het
Pramel32 T C 4: 88,548,309 (GRCm39) Q32R possibly damaging Het
Prune2 T A 19: 17,091,038 (GRCm39) F281I probably benign Het
Psg19 T G 7: 18,528,193 (GRCm39) Q183H probably damaging Het
Psme4 T G 11: 30,765,658 (GRCm39) S587A probably benign Het
Ptpro T C 6: 137,377,617 (GRCm39) probably benign Het
Pttg1ip2 C A 5: 5,502,019 (GRCm39) W144C probably benign Het
Rasgrp4 T C 7: 28,838,302 (GRCm39) V92A probably damaging Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Rexo5 C T 7: 119,398,867 (GRCm39) A68V probably damaging Het
Robo2 A T 16: 73,755,213 (GRCm39) N769K probably damaging Het
Sfrp5 C T 19: 42,187,237 (GRCm39) V278I probably benign Het
Sidt1 A G 16: 44,102,234 (GRCm39) S309P possibly damaging Het
Slc22a6 A C 19: 8,599,246 (GRCm39) Q292H probably benign Het
Slc4a3 G A 1: 75,530,367 (GRCm39) R690H probably damaging Het
Snx7 A T 3: 117,623,317 (GRCm39) probably null Het
Spag6 T A 2: 18,720,616 (GRCm39) Y129* probably null Het
St6gal1 T G 16: 23,140,383 (GRCm39) S185A probably damaging Het
Sult6b1 G A 17: 79,196,393 (GRCm39) H250Y possibly damaging Het
Tdrd6 T G 17: 43,937,979 (GRCm39) N1023T probably benign Het
Tecta C T 9: 42,249,232 (GRCm39) E1877K probably damaging Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tex14 T A 11: 87,385,861 (GRCm39) D240E probably damaging Het
Tex47 T C 5: 7,355,022 (GRCm39) Y68H probably damaging Het
Thbs2 A G 17: 14,910,104 (GRCm39) V165A probably benign Het
Tmem126b T A 7: 90,118,367 (GRCm39) Y171F possibly damaging Het
Tpsg1 G T 17: 25,592,374 (GRCm39) M46I probably benign Het
Trmt2a A G 16: 18,069,070 (GRCm39) K304R probably benign Het
Ttc28 G T 5: 111,428,616 (GRCm39) R1845L possibly damaging Het
Umodl1 A T 17: 31,211,128 (GRCm39) T884S possibly damaging Het
Vmn2r77 A G 7: 86,461,001 (GRCm39) K776E probably damaging Het
Vmn2r88 T C 14: 51,655,671 (GRCm39) S627P probably damaging Het
Vrk1 T C 12: 106,024,236 (GRCm39) probably null Het
Zfp644 A G 5: 106,783,137 (GRCm39) M1079T possibly damaging Het
Znrf1 T C 8: 112,348,233 (GRCm39) *41Q probably null Het
Znrf1 T C 8: 112,348,244 (GRCm39) F183L possibly damaging Het
Other mutations in Srcap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Srcap APN 7 127,141,885 (GRCm39) splice site probably benign
IGL00475:Srcap APN 7 127,152,093 (GRCm39) missense possibly damaging 0.92
IGL01064:Srcap APN 7 127,159,064 (GRCm39) unclassified probably benign
IGL01129:Srcap APN 7 127,120,823 (GRCm39) missense probably damaging 1.00
IGL01670:Srcap APN 7 127,127,604 (GRCm39) missense probably damaging 1.00
IGL01861:Srcap APN 7 127,124,457 (GRCm39) splice site probably benign
IGL02237:Srcap APN 7 127,133,864 (GRCm39) splice site probably benign
IGL02665:Srcap APN 7 127,140,075 (GRCm39) missense probably damaging 1.00
IGL02688:Srcap APN 7 127,141,625 (GRCm39) missense probably benign 0.04
IGL02744:Srcap APN 7 127,133,838 (GRCm39) missense probably damaging 1.00
IGL02810:Srcap APN 7 127,120,835 (GRCm39) critical splice donor site probably null
IGL03184:Srcap APN 7 127,129,674 (GRCm39) unclassified probably benign
IGL03309:Srcap APN 7 127,129,965 (GRCm39) missense probably damaging 0.99
PIT4453001:Srcap UTSW 7 127,148,492 (GRCm39) missense possibly damaging 0.52
R1340:Srcap UTSW 7 127,159,910 (GRCm39) intron probably benign
R1401:Srcap UTSW 7 127,159,124 (GRCm39) unclassified probably benign
R1455:Srcap UTSW 7 127,129,822 (GRCm39) missense probably damaging 0.99
R1470:Srcap UTSW 7 127,158,899 (GRCm39) unclassified probably benign
R1470:Srcap UTSW 7 127,158,899 (GRCm39) unclassified probably benign
R1761:Srcap UTSW 7 127,134,017 (GRCm39) missense probably damaging 1.00
R2483:Srcap UTSW 7 127,141,319 (GRCm39) missense probably damaging 0.99
R2892:Srcap UTSW 7 127,138,237 (GRCm39) missense probably damaging 0.99
R2893:Srcap UTSW 7 127,138,237 (GRCm39) missense probably damaging 0.99
R3623:Srcap UTSW 7 127,141,319 (GRCm39) missense probably damaging 0.99
R3976:Srcap UTSW 7 127,148,411 (GRCm39) missense probably benign 0.18
R4001:Srcap UTSW 7 127,131,339 (GRCm39) missense probably damaging 1.00
R4015:Srcap UTSW 7 127,124,595 (GRCm39) missense probably benign 0.27
R4581:Srcap UTSW 7 127,157,482 (GRCm39) unclassified probably benign
R4643:Srcap UTSW 7 127,140,948 (GRCm39) missense probably damaging 1.00
R4644:Srcap UTSW 7 127,151,770 (GRCm39) missense probably damaging 1.00
R4690:Srcap UTSW 7 127,137,186 (GRCm39) missense probably damaging 1.00
R4693:Srcap UTSW 7 127,137,716 (GRCm39) missense probably damaging 1.00
R4719:Srcap UTSW 7 127,140,731 (GRCm39) missense probably benign 0.13
R4728:Srcap UTSW 7 127,140,096 (GRCm39) critical splice donor site probably null
R4740:Srcap UTSW 7 127,148,471 (GRCm39) missense probably damaging 1.00
R4752:Srcap UTSW 7 127,158,172 (GRCm39) unclassified probably benign
R4834:Srcap UTSW 7 127,156,782 (GRCm39) critical splice donor site probably null
R4837:Srcap UTSW 7 127,158,134 (GRCm39) unclassified probably benign
R4884:Srcap UTSW 7 127,121,189 (GRCm39) missense probably damaging 1.00
R4889:Srcap UTSW 7 127,137,719 (GRCm39) missense possibly damaging 0.94
R5088:Srcap UTSW 7 127,140,833 (GRCm39) missense probably benign 0.02
R5102:Srcap UTSW 7 127,129,795 (GRCm39) missense probably damaging 1.00
R5358:Srcap UTSW 7 127,139,492 (GRCm39) missense probably damaging 1.00
R5372:Srcap UTSW 7 127,156,785 (GRCm39) splice site probably null
R5397:Srcap UTSW 7 127,152,468 (GRCm39) critical splice donor site probably null
R5481:Srcap UTSW 7 127,131,369 (GRCm39) missense probably damaging 1.00
R5566:Srcap UTSW 7 127,124,475 (GRCm39) missense probably damaging 0.99
R5584:Srcap UTSW 7 127,127,651 (GRCm39) missense probably damaging 1.00
R5693:Srcap UTSW 7 127,118,988 (GRCm39) missense probably damaging 1.00
R5769:Srcap UTSW 7 127,158,994 (GRCm39) unclassified probably benign
R5805:Srcap UTSW 7 127,141,211 (GRCm39) missense possibly damaging 0.87
R5806:Srcap UTSW 7 127,158,335 (GRCm39) unclassified probably benign
R5921:Srcap UTSW 7 127,158,005 (GRCm39) unclassified probably benign
R5942:Srcap UTSW 7 127,137,180 (GRCm39) missense probably damaging 1.00
R6014:Srcap UTSW 7 127,137,922 (GRCm39) missense probably benign 0.01
R6057:Srcap UTSW 7 127,140,528 (GRCm39) missense probably damaging 0.99
R6113:Srcap UTSW 7 127,159,453 (GRCm39) unclassified probably benign
R6150:Srcap UTSW 7 127,134,000 (GRCm39) missense probably damaging 1.00
R6212:Srcap UTSW 7 127,148,861 (GRCm39) missense probably damaging 1.00
R6299:Srcap UTSW 7 127,129,626 (GRCm39) unclassified probably benign
R6437:Srcap UTSW 7 127,127,722 (GRCm39) splice site probably null
R6492:Srcap UTSW 7 127,121,317 (GRCm39) nonsense probably null
R6537:Srcap UTSW 7 127,141,392 (GRCm39) missense probably damaging 0.97
R6659:Srcap UTSW 7 127,141,563 (GRCm39) missense probably damaging 1.00
R6713:Srcap UTSW 7 127,134,089 (GRCm39) missense probably benign 0.28
R6717:Srcap UTSW 7 127,157,482 (GRCm39) unclassified probably benign
R6941:Srcap UTSW 7 127,141,769 (GRCm39) missense probably damaging 1.00
R7068:Srcap UTSW 7 127,141,115 (GRCm39) missense probably benign 0.00
R7097:Srcap UTSW 7 127,138,213 (GRCm39) missense probably damaging 1.00
R7394:Srcap UTSW 7 127,134,000 (GRCm39) missense probably damaging 1.00
R7426:Srcap UTSW 7 127,137,689 (GRCm39) missense possibly damaging 0.90
R7434:Srcap UTSW 7 127,159,414 (GRCm39) missense unknown
R7559:Srcap UTSW 7 127,129,722 (GRCm39) missense unknown
R7638:Srcap UTSW 7 127,137,920 (GRCm39) missense probably benign 0.39
R7677:Srcap UTSW 7 127,158,980 (GRCm39) missense unknown
R7715:Srcap UTSW 7 127,148,460 (GRCm39) missense probably damaging 0.99
R7757:Srcap UTSW 7 127,129,966 (GRCm39) missense probably damaging 0.99
R7811:Srcap UTSW 7 127,141,221 (GRCm39) missense probably damaging 0.97
R7821:Srcap UTSW 7 127,129,499 (GRCm39) unclassified probably benign
R7869:Srcap UTSW 7 127,138,366 (GRCm39) missense possibly damaging 0.92
R7870:Srcap UTSW 7 127,159,730 (GRCm39) missense unknown
R7941:Srcap UTSW 7 127,157,462 (GRCm39) unclassified probably benign
R7994:Srcap UTSW 7 127,140,930 (GRCm39) missense probably benign 0.00
R8035:Srcap UTSW 7 127,141,784 (GRCm39) missense probably benign 0.05
R8066:Srcap UTSW 7 127,120,804 (GRCm39) missense probably damaging 1.00
R8066:Srcap UTSW 7 127,139,484 (GRCm39) missense possibly damaging 0.74
R8168:Srcap UTSW 7 127,141,695 (GRCm39) missense probably damaging 1.00
R8194:Srcap UTSW 7 127,138,369 (GRCm39) missense probably damaging 1.00
R8288:Srcap UTSW 7 127,130,528 (GRCm39) missense probably damaging 1.00
R8307:Srcap UTSW 7 127,124,541 (GRCm39) missense probably damaging 1.00
R8308:Srcap UTSW 7 127,152,353 (GRCm39) missense possibly damaging 0.82
R8309:Srcap UTSW 7 127,148,529 (GRCm39) missense probably damaging 0.98
R8311:Srcap UTSW 7 127,156,969 (GRCm39) missense probably damaging 0.99
R8321:Srcap UTSW 7 127,140,068 (GRCm39) missense probably damaging 1.00
R8365:Srcap UTSW 7 127,148,869 (GRCm39) missense probably damaging 1.00
R8424:Srcap UTSW 7 127,141,560 (GRCm39) missense probably benign 0.00
R8815:Srcap UTSW 7 127,158,037 (GRCm39) missense unknown
R8817:Srcap UTSW 7 127,152,395 (GRCm39) missense probably benign 0.23
R8924:Srcap UTSW 7 127,158,204 (GRCm39) missense unknown
R8933:Srcap UTSW 7 127,151,566 (GRCm39) missense probably damaging 1.00
R8961:Srcap UTSW 7 127,141,101 (GRCm39) missense probably damaging 1.00
R9000:Srcap UTSW 7 127,130,943 (GRCm39) missense possibly damaging 0.91
R9098:Srcap UTSW 7 127,151,816 (GRCm39) missense probably damaging 0.99
R9124:Srcap UTSW 7 127,159,874 (GRCm39) missense unknown
R9163:Srcap UTSW 7 127,121,162 (GRCm39) missense unknown
R9332:Srcap UTSW 7 127,158,812 (GRCm39) missense unknown
R9389:Srcap UTSW 7 127,141,455 (GRCm39) missense probably damaging 1.00
R9464:Srcap UTSW 7 127,137,273 (GRCm39) missense possibly damaging 0.95
R9467:Srcap UTSW 7 127,139,531 (GRCm39) missense probably damaging 0.98
R9554:Srcap UTSW 7 127,151,577 (GRCm39) missense probably damaging 1.00
R9596:Srcap UTSW 7 127,131,036 (GRCm39) missense probably damaging 1.00
R9597:Srcap UTSW 7 127,121,219 (GRCm39) missense possibly damaging 0.91
X0025:Srcap UTSW 7 127,159,277 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GCAACGCTGTCTCTATGATGAC -3'
(R):5'- AGTTAATGTACAAAAGGTCAGGCC -3'

Sequencing Primer
(F):5'- AACGCTGTCTCTATGATGACTTCATG -3'
(R):5'- TCAGGCCTTAGAGTGGAGAC -3'
Posted On 2014-06-30