Incidental Mutation 'IGL01547:Csmd3'
ID |
90369 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Csmd3
|
Ensembl Gene |
ENSMUSG00000022311 |
Gene Name |
CUB and Sushi multiple domains 3 |
Synonyms |
4930500N14Rik |
Accession Numbers |
|
Is this an essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01547
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
47580637-48792063 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 47883617 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 1322
(I1322V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124753
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100670]
[ENSMUST00000160658]
[ENSMUST00000162830]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100670
AA Change: I1426V
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000098235 Gene: ENSMUSG00000022311 AA Change: I1426V
Domain | Start | End | E-Value | Type |
CUB
|
65 |
173 |
8.79e-30 |
SMART |
CCP
|
178 |
235 |
1.77e-11 |
SMART |
CUB
|
241 |
345 |
2.29e-28 |
SMART |
low complexity region
|
370 |
387 |
N/A |
INTRINSIC |
CCP
|
486 |
543 |
6.9e-14 |
SMART |
CUB
|
548 |
659 |
9.22e-24 |
SMART |
CCP
|
664 |
717 |
1.29e-13 |
SMART |
CUB
|
721 |
829 |
6.87e-32 |
SMART |
CCP
|
834 |
891 |
5.19e-9 |
SMART |
CUB
|
895 |
1003 |
3.23e-37 |
SMART |
CCP
|
1010 |
1063 |
1.82e-13 |
SMART |
CUB
|
1067 |
1177 |
4.87e-23 |
SMART |
CCP
|
1182 |
1237 |
1.82e-13 |
SMART |
CUB
|
1241 |
1349 |
5.02e-25 |
SMART |
CCP
|
1354 |
1410 |
2.5e-11 |
SMART |
CUB
|
1414 |
1523 |
6.27e-26 |
SMART |
CCP
|
1528 |
1584 |
4.41e-12 |
SMART |
CUB
|
1588 |
1696 |
5.37e-34 |
SMART |
CCP
|
1701 |
1758 |
1.18e-12 |
SMART |
CUB
|
1762 |
1870 |
2.27e-23 |
SMART |
CCP
|
1878 |
1935 |
1.84e-9 |
SMART |
CUB
|
1939 |
2047 |
1.8e-35 |
SMART |
CCP
|
2052 |
2107 |
4.48e-13 |
SMART |
CUB
|
2111 |
2219 |
3.95e-32 |
SMART |
CCP
|
2224 |
2279 |
4.02e-15 |
SMART |
CUB
|
2283 |
2390 |
1.74e-33 |
SMART |
CCP
|
2395 |
2452 |
5.82e-12 |
SMART |
CUB
|
2457 |
2567 |
5.3e-24 |
SMART |
CCP
|
2569 |
2627 |
2.11e-9 |
SMART |
CCP
|
2632 |
2689 |
8.23e-12 |
SMART |
CCP
|
2694 |
2754 |
8.56e-10 |
SMART |
CCP
|
2759 |
2812 |
1.14e-14 |
SMART |
CCP
|
2817 |
2870 |
4.76e-17 |
SMART |
CCP
|
2875 |
2928 |
1.85e-14 |
SMART |
CCP
|
2933 |
2990 |
9.9e-15 |
SMART |
CCP
|
2995 |
3048 |
1.79e-12 |
SMART |
CCP
|
3056 |
3109 |
1.72e-14 |
SMART |
CCP
|
3114 |
3168 |
3.17e-13 |
SMART |
CCP
|
3173 |
3228 |
1.25e-11 |
SMART |
CCP
|
3233 |
3286 |
1.25e-11 |
SMART |
CCP
|
3291 |
3344 |
8.23e-12 |
SMART |
CCP
|
3352 |
3406 |
5.6e-14 |
SMART |
CCP
|
3411 |
3466 |
1.89e-11 |
SMART |
transmembrane domain
|
3630 |
3652 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160658
AA Change: I1322V
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000124753 Gene: ENSMUSG00000022311 AA Change: I1322V
Domain | Start | End | E-Value | Type |
CUB
|
65 |
173 |
8.79e-30 |
SMART |
CCP
|
178 |
235 |
1.77e-11 |
SMART |
CUB
|
241 |
345 |
2.29e-28 |
SMART |
CCP
|
382 |
439 |
6.9e-14 |
SMART |
CUB
|
444 |
555 |
9.22e-24 |
SMART |
CCP
|
560 |
613 |
1.29e-13 |
SMART |
CUB
|
617 |
725 |
6.87e-32 |
SMART |
CCP
|
730 |
787 |
5.19e-9 |
SMART |
CUB
|
791 |
899 |
3.23e-37 |
SMART |
CCP
|
906 |
959 |
1.82e-13 |
SMART |
CUB
|
963 |
1073 |
4.87e-23 |
SMART |
CCP
|
1078 |
1133 |
1.82e-13 |
SMART |
CUB
|
1137 |
1245 |
5.02e-25 |
SMART |
CCP
|
1250 |
1306 |
2.5e-11 |
SMART |
CUB
|
1310 |
1419 |
6.27e-26 |
SMART |
CCP
|
1424 |
1480 |
4.41e-12 |
SMART |
CUB
|
1484 |
1592 |
5.37e-34 |
SMART |
CCP
|
1597 |
1654 |
1.18e-12 |
SMART |
CUB
|
1658 |
1766 |
2.27e-23 |
SMART |
CCP
|
1774 |
1831 |
1.84e-9 |
SMART |
CUB
|
1835 |
1943 |
1.8e-35 |
SMART |
CCP
|
1948 |
2003 |
4.48e-13 |
SMART |
CUB
|
2007 |
2115 |
3.95e-32 |
SMART |
CCP
|
2120 |
2175 |
4.02e-15 |
SMART |
CUB
|
2179 |
2286 |
1.74e-33 |
SMART |
CCP
|
2291 |
2348 |
5.82e-12 |
SMART |
CUB
|
2353 |
2463 |
5.3e-24 |
SMART |
CCP
|
2465 |
2523 |
2.11e-9 |
SMART |
CCP
|
2528 |
2585 |
8.23e-12 |
SMART |
CCP
|
2590 |
2643 |
1.14e-14 |
SMART |
CCP
|
2648 |
2701 |
4.76e-17 |
SMART |
CCP
|
2706 |
2759 |
1.85e-14 |
SMART |
CCP
|
2764 |
2821 |
9.9e-15 |
SMART |
CCP
|
2826 |
2879 |
1.79e-12 |
SMART |
CCP
|
2887 |
2940 |
1.72e-14 |
SMART |
CCP
|
2945 |
2999 |
3.17e-13 |
SMART |
CCP
|
3004 |
3059 |
1.25e-11 |
SMART |
CCP
|
3064 |
3117 |
1.25e-11 |
SMART |
CCP
|
3122 |
3175 |
8.23e-12 |
SMART |
CCP
|
3183 |
3237 |
5.6e-14 |
SMART |
CCP
|
3242 |
3297 |
1.89e-11 |
SMART |
transmembrane domain
|
3461 |
3483 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000161653
AA Change: I585V
|
SMART Domains |
Protein: ENSMUSP00000124195 Gene: ENSMUSG00000022311 AA Change: I585V
Domain | Start | End | E-Value | Type |
CCP
|
1 |
51 |
6.59e-1 |
SMART |
CUB
|
55 |
163 |
3.23e-37 |
SMART |
CCP
|
170 |
223 |
1.82e-13 |
SMART |
CUB
|
227 |
337 |
4.87e-23 |
SMART |
CCP
|
342 |
397 |
1.82e-13 |
SMART |
CUB
|
401 |
509 |
5.02e-25 |
SMART |
CCP
|
514 |
570 |
2.5e-11 |
SMART |
CUB
|
574 |
683 |
6.27e-26 |
SMART |
CCP
|
688 |
744 |
4.41e-12 |
SMART |
CUB
|
748 |
856 |
5.37e-34 |
SMART |
CCP
|
861 |
918 |
1.18e-12 |
SMART |
Pfam:CUB
|
922 |
964 |
9.7e-8 |
PFAM |
CCP
|
968 |
1025 |
1.84e-9 |
SMART |
CUB
|
1029 |
1137 |
1.8e-35 |
SMART |
CCP
|
1142 |
1197 |
4.48e-13 |
SMART |
CUB
|
1201 |
1309 |
3.95e-32 |
SMART |
CCP
|
1314 |
1369 |
4.02e-15 |
SMART |
CUB
|
1373 |
1480 |
1.74e-33 |
SMART |
CCP
|
1485 |
1542 |
5.82e-12 |
SMART |
CUB
|
1547 |
1657 |
5.3e-24 |
SMART |
CCP
|
1659 |
1717 |
2.11e-9 |
SMART |
CCP
|
1722 |
1779 |
8.23e-12 |
SMART |
CCP
|
1784 |
1844 |
8.56e-10 |
SMART |
CCP
|
1849 |
1902 |
1.14e-14 |
SMART |
CCP
|
1907 |
1960 |
4.76e-17 |
SMART |
CCP
|
1965 |
2018 |
1.85e-14 |
SMART |
CCP
|
2023 |
2080 |
9.9e-15 |
SMART |
CCP
|
2085 |
2138 |
1.79e-12 |
SMART |
CCP
|
2146 |
2199 |
1.72e-14 |
SMART |
CCP
|
2204 |
2258 |
3.17e-13 |
SMART |
CCP
|
2263 |
2318 |
1.25e-11 |
SMART |
CCP
|
2323 |
2376 |
1.25e-11 |
SMART |
CCP
|
2381 |
2434 |
8.23e-12 |
SMART |
CCP
|
2442 |
2496 |
5.6e-14 |
SMART |
CCP
|
2501 |
2556 |
1.89e-11 |
SMART |
transmembrane domain
|
2720 |
2742 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162830
AA Change: I1426V
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000124775 Gene: ENSMUSG00000022311 AA Change: I1426V
Domain | Start | End | E-Value | Type |
CUB
|
65 |
173 |
8.79e-30 |
SMART |
CCP
|
178 |
235 |
1.77e-11 |
SMART |
CUB
|
241 |
345 |
2.29e-28 |
SMART |
low complexity region
|
370 |
387 |
N/A |
INTRINSIC |
CCP
|
486 |
543 |
6.9e-14 |
SMART |
CUB
|
548 |
659 |
9.22e-24 |
SMART |
CCP
|
664 |
717 |
1.29e-13 |
SMART |
CUB
|
721 |
829 |
6.87e-32 |
SMART |
CCP
|
834 |
891 |
5.19e-9 |
SMART |
CUB
|
895 |
1003 |
3.23e-37 |
SMART |
CCP
|
1010 |
1063 |
1.82e-13 |
SMART |
CUB
|
1067 |
1177 |
4.87e-23 |
SMART |
CCP
|
1182 |
1237 |
1.82e-13 |
SMART |
CUB
|
1241 |
1349 |
5.02e-25 |
SMART |
CCP
|
1354 |
1410 |
2.5e-11 |
SMART |
CUB
|
1414 |
1523 |
6.27e-26 |
SMART |
CCP
|
1528 |
1584 |
4.41e-12 |
SMART |
CUB
|
1588 |
1696 |
5.37e-34 |
SMART |
CCP
|
1701 |
1758 |
1.18e-12 |
SMART |
CUB
|
1762 |
1870 |
2.27e-23 |
SMART |
CCP
|
1878 |
1935 |
1.84e-9 |
SMART |
CUB
|
1939 |
2047 |
1.8e-35 |
SMART |
CCP
|
2052 |
2107 |
4.48e-13 |
SMART |
CUB
|
2111 |
2219 |
3.95e-32 |
SMART |
CCP
|
2224 |
2279 |
4.02e-15 |
SMART |
CUB
|
2283 |
2390 |
1.74e-33 |
SMART |
CCP
|
2395 |
2452 |
5.82e-12 |
SMART |
CUB
|
2457 |
2567 |
5.3e-24 |
SMART |
CCP
|
2569 |
2627 |
2.11e-9 |
SMART |
CCP
|
2632 |
2689 |
8.23e-12 |
SMART |
CCP
|
2694 |
2754 |
8.56e-10 |
SMART |
CCP
|
2759 |
2812 |
1.14e-14 |
SMART |
CCP
|
2817 |
2870 |
4.76e-17 |
SMART |
CCP
|
2875 |
2928 |
1.85e-14 |
SMART |
CCP
|
2933 |
2990 |
9.9e-15 |
SMART |
CCP
|
2995 |
3048 |
1.79e-12 |
SMART |
CCP
|
3056 |
3109 |
1.72e-14 |
SMART |
CCP
|
3114 |
3168 |
3.17e-13 |
SMART |
CCP
|
3173 |
3228 |
1.25e-11 |
SMART |
CCP
|
3233 |
3286 |
1.25e-11 |
SMART |
CCP
|
3291 |
3344 |
8.23e-12 |
SMART |
CCP
|
3352 |
3406 |
5.6e-14 |
SMART |
CCP
|
3411 |
3466 |
1.89e-11 |
SMART |
transmembrane domain
|
3630 |
3652 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013G24Rik |
G |
A |
4: 137,455,262 |
G243R |
possibly damaging |
Het |
Afg3l1 |
T |
C |
8: 123,501,351 |
V625A |
probably benign |
Het |
Arhgap39 |
T |
C |
15: 76,737,815 |
|
probably benign |
Het |
Bag1 |
A |
G |
4: 40,936,661 |
C332R |
probably damaging |
Het |
Bcas2 |
T |
C |
3: 103,171,999 |
Y49H |
probably damaging |
Het |
Cacna1b |
C |
A |
2: 24,632,035 |
|
probably benign |
Het |
Cdyl |
A |
G |
13: 35,790,162 |
D53G |
possibly damaging |
Het |
Evc2 |
C |
A |
5: 37,393,087 |
A815E |
probably benign |
Het |
Gm6309 |
C |
T |
5: 146,168,411 |
D231N |
probably benign |
Het |
Mtfr2 |
C |
T |
10: 20,357,599 |
P305S |
probably damaging |
Het |
Olfr301 |
A |
G |
7: 86,412,871 |
N170D |
possibly damaging |
Het |
Olfr639 |
A |
T |
7: 104,012,660 |
I14N |
probably benign |
Het |
Olfr77 |
A |
T |
9: 19,920,901 |
I231F |
probably benign |
Het |
Pcdhb1 |
A |
G |
18: 37,267,342 |
H782R |
probably benign |
Het |
Polr2a |
A |
G |
11: 69,744,942 |
S480P |
probably damaging |
Het |
Scaf11 |
T |
C |
15: 96,418,429 |
T1085A |
probably benign |
Het |
Sema6c |
C |
T |
3: 95,172,398 |
R668C |
probably damaging |
Het |
Tas2r123 |
C |
T |
6: 132,847,458 |
T106I |
probably damaging |
Het |
Tgm5 |
A |
G |
2: 121,049,202 |
|
probably benign |
Het |
Vmn2r23 |
T |
A |
6: 123,704,424 |
I97N |
possibly damaging |
Het |
Vmn2r6 |
T |
A |
3: 64,538,104 |
K644N |
probably damaging |
Het |
Zfp608 |
A |
G |
18: 54,894,449 |
|
probably null |
Het |
|
Other mutations in Csmd3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00158:Csmd3
|
APN |
15 |
48287495 |
missense |
possibly damaging |
0.61 |
IGL00591:Csmd3
|
APN |
15 |
48004883 |
missense |
probably damaging |
1.00 |
IGL00668:Csmd3
|
APN |
15 |
47913945 |
missense |
probably damaging |
1.00 |
IGL00753:Csmd3
|
APN |
15 |
47644235 |
missense |
probably damaging |
1.00 |
IGL00773:Csmd3
|
APN |
15 |
47590719 |
missense |
probably damaging |
0.96 |
IGL00926:Csmd3
|
APN |
15 |
47710964 |
missense |
possibly damaging |
0.87 |
IGL00942:Csmd3
|
APN |
15 |
47847106 |
critical splice donor site |
probably null |
|
IGL01080:Csmd3
|
APN |
15 |
47881403 |
missense |
probably benign |
0.12 |
IGL01314:Csmd3
|
APN |
15 |
47849755 |
missense |
probably damaging |
1.00 |
IGL01326:Csmd3
|
APN |
15 |
47849785 |
missense |
probably benign |
0.06 |
IGL01393:Csmd3
|
APN |
15 |
48457599 |
missense |
possibly damaging |
0.88 |
IGL01432:Csmd3
|
APN |
15 |
47733499 |
missense |
probably damaging |
1.00 |
IGL01519:Csmd3
|
APN |
15 |
47596850 |
missense |
probably benign |
0.31 |
IGL01530:Csmd3
|
APN |
15 |
47838437 |
missense |
possibly damaging |
0.95 |
IGL01530:Csmd3
|
APN |
15 |
47669617 |
missense |
probably damaging |
1.00 |
IGL01594:Csmd3
|
APN |
15 |
47629239 |
missense |
probably benign |
0.01 |
IGL01618:Csmd3
|
APN |
15 |
48011083 |
missense |
probably benign |
0.05 |
IGL01670:Csmd3
|
APN |
15 |
47611829 |
missense |
probably damaging |
1.00 |
IGL01680:Csmd3
|
APN |
15 |
47970030 |
missense |
probably damaging |
1.00 |
IGL01734:Csmd3
|
APN |
15 |
48185304 |
missense |
probably damaging |
1.00 |
IGL01777:Csmd3
|
APN |
15 |
47698198 |
missense |
probably benign |
0.06 |
IGL01779:Csmd3
|
APN |
15 |
47857894 |
missense |
probably benign |
0.10 |
IGL01820:Csmd3
|
APN |
15 |
47607142 |
nonsense |
probably null |
|
IGL01843:Csmd3
|
APN |
15 |
47658999 |
splice site |
probably benign |
|
IGL01919:Csmd3
|
APN |
15 |
47675772 |
missense |
possibly damaging |
0.62 |
IGL01986:Csmd3
|
APN |
15 |
47659195 |
missense |
possibly damaging |
0.82 |
IGL02049:Csmd3
|
APN |
15 |
48001474 |
missense |
possibly damaging |
0.91 |
IGL02065:Csmd3
|
APN |
15 |
47666628 |
missense |
probably damaging |
1.00 |
IGL02112:Csmd3
|
APN |
15 |
48313869 |
missense |
possibly damaging |
0.95 |
IGL02133:Csmd3
|
APN |
15 |
47857942 |
missense |
possibly damaging |
0.86 |
IGL02203:Csmd3
|
APN |
15 |
47849677 |
splice site |
probably null |
|
IGL02215:Csmd3
|
APN |
15 |
47585688 |
missense |
probably damaging |
1.00 |
IGL02234:Csmd3
|
APN |
15 |
47948116 |
missense |
probably damaging |
1.00 |
IGL02326:Csmd3
|
APN |
15 |
47755963 |
splice site |
probably benign |
|
IGL02478:Csmd3
|
APN |
15 |
47838398 |
splice site |
probably benign |
|
IGL02491:Csmd3
|
APN |
15 |
47914115 |
splice site |
probably benign |
|
IGL02598:Csmd3
|
APN |
15 |
47669690 |
missense |
probably damaging |
0.98 |
IGL02626:Csmd3
|
APN |
15 |
47704107 |
splice site |
probably benign |
|
IGL02696:Csmd3
|
APN |
15 |
47669669 |
missense |
probably benign |
0.33 |
IGL02876:Csmd3
|
APN |
15 |
47606096 |
splice site |
probably benign |
|
IGL02971:Csmd3
|
APN |
15 |
47913929 |
splice site |
probably benign |
|
IGL03068:Csmd3
|
APN |
15 |
47847121 |
missense |
possibly damaging |
0.69 |
IGL03087:Csmd3
|
APN |
15 |
47977033 |
missense |
probably damaging |
1.00 |
IGL03114:Csmd3
|
APN |
15 |
47820451 |
missense |
probably damaging |
0.99 |
IGL03146:Csmd3
|
APN |
15 |
47881477 |
missense |
probably benign |
0.25 |
IGL03193:Csmd3
|
APN |
15 |
47629230 |
splice site |
probably benign |
|
IGL03274:Csmd3
|
APN |
15 |
47645504 |
missense |
probably damaging |
1.00 |
R0040:Csmd3
|
UTSW |
15 |
47633816 |
missense |
probably damaging |
1.00 |
R0071:Csmd3
|
UTSW |
15 |
47596821 |
missense |
probably benign |
0.04 |
R0071:Csmd3
|
UTSW |
15 |
47596821 |
missense |
probably benign |
0.04 |
R0119:Csmd3
|
UTSW |
15 |
47847131 |
missense |
probably benign |
0.08 |
R0124:Csmd3
|
UTSW |
15 |
47590716 |
missense |
probably damaging |
1.00 |
R0127:Csmd3
|
UTSW |
15 |
47981930 |
missense |
probably benign |
0.45 |
R0136:Csmd3
|
UTSW |
15 |
47847131 |
missense |
probably benign |
0.08 |
R0201:Csmd3
|
UTSW |
15 |
47619729 |
splice site |
probably benign |
|
R0240:Csmd3
|
UTSW |
15 |
47629239 |
missense |
probably benign |
0.05 |
R0240:Csmd3
|
UTSW |
15 |
47629239 |
missense |
probably benign |
0.05 |
R0318:Csmd3
|
UTSW |
15 |
47659153 |
missense |
probably damaging |
1.00 |
R0369:Csmd3
|
UTSW |
15 |
47970147 |
missense |
probably damaging |
1.00 |
R0391:Csmd3
|
UTSW |
15 |
47657573 |
missense |
probably damaging |
1.00 |
R0499:Csmd3
|
UTSW |
15 |
47847131 |
missense |
probably benign |
0.08 |
R0506:Csmd3
|
UTSW |
15 |
48457511 |
missense |
probably benign |
0.00 |
R0606:Csmd3
|
UTSW |
15 |
48457662 |
missense |
probably benign |
|
R0639:Csmd3
|
UTSW |
15 |
47913940 |
missense |
probably damaging |
1.00 |
R0658:Csmd3
|
UTSW |
15 |
48011147 |
missense |
possibly damaging |
0.66 |
R0673:Csmd3
|
UTSW |
15 |
47913940 |
missense |
probably damaging |
1.00 |
R0689:Csmd3
|
UTSW |
15 |
47756025 |
missense |
probably benign |
0.19 |
R0696:Csmd3
|
UTSW |
15 |
47847173 |
missense |
probably benign |
0.01 |
R0799:Csmd3
|
UTSW |
15 |
48185384 |
splice site |
probably benign |
|
R0834:Csmd3
|
UTSW |
15 |
47883677 |
intron |
probably benign |
|
R0894:Csmd3
|
UTSW |
15 |
47857920 |
missense |
possibly damaging |
0.95 |
R0926:Csmd3
|
UTSW |
15 |
47977033 |
missense |
probably damaging |
1.00 |
R0943:Csmd3
|
UTSW |
15 |
47675739 |
missense |
probably damaging |
0.99 |
R0944:Csmd3
|
UTSW |
15 |
47611831 |
missense |
probably damaging |
1.00 |
R0967:Csmd3
|
UTSW |
15 |
47857831 |
missense |
probably null |
0.89 |
R0973:Csmd3
|
UTSW |
15 |
47659089 |
missense |
probably damaging |
1.00 |
R1055:Csmd3
|
UTSW |
15 |
47881537 |
missense |
probably damaging |
1.00 |
R1066:Csmd3
|
UTSW |
15 |
47913965 |
missense |
probably damaging |
1.00 |
R1086:Csmd3
|
UTSW |
15 |
47695755 |
missense |
probably damaging |
0.99 |
R1103:Csmd3
|
UTSW |
15 |
47948006 |
missense |
probably damaging |
1.00 |
R1136:Csmd3
|
UTSW |
15 |
47675817 |
missense |
probably damaging |
1.00 |
R1139:Csmd3
|
UTSW |
15 |
47695836 |
missense |
probably damaging |
1.00 |
R1158:Csmd3
|
UTSW |
15 |
48292774 |
splice site |
probably null |
|
R1215:Csmd3
|
UTSW |
15 |
48004831 |
splice site |
probably null |
|
R1233:Csmd3
|
UTSW |
15 |
48673531 |
missense |
probably damaging |
1.00 |
R1271:Csmd3
|
UTSW |
15 |
48011059 |
missense |
probably benign |
0.11 |
R1469:Csmd3
|
UTSW |
15 |
47669202 |
nonsense |
probably null |
|
R1469:Csmd3
|
UTSW |
15 |
47669202 |
nonsense |
probably null |
|
R1479:Csmd3
|
UTSW |
15 |
47857886 |
missense |
probably damaging |
1.00 |
R1480:Csmd3
|
UTSW |
15 |
47731929 |
missense |
possibly damaging |
0.90 |
R1526:Csmd3
|
UTSW |
15 |
47585632 |
critical splice donor site |
probably null |
|
R1527:Csmd3
|
UTSW |
15 |
47948087 |
missense |
probably benign |
0.08 |
R1539:Csmd3
|
UTSW |
15 |
47820398 |
missense |
probably benign |
0.24 |
R1544:Csmd3
|
UTSW |
15 |
47611898 |
splice site |
probably null |
|
R1548:Csmd3
|
UTSW |
15 |
47981975 |
missense |
possibly damaging |
0.91 |
R1574:Csmd3
|
UTSW |
15 |
47695861 |
splice site |
probably null |
|
R1574:Csmd3
|
UTSW |
15 |
47695861 |
splice site |
probably null |
|
R1619:Csmd3
|
UTSW |
15 |
47949950 |
missense |
probably damaging |
1.00 |
R1630:Csmd3
|
UTSW |
15 |
47838522 |
missense |
possibly damaging |
0.66 |
R1665:Csmd3
|
UTSW |
15 |
47696789 |
missense |
probably damaging |
1.00 |
R1680:Csmd3
|
UTSW |
15 |
47741170 |
missense |
probably damaging |
1.00 |
R1725:Csmd3
|
UTSW |
15 |
47596807 |
missense |
probably damaging |
1.00 |
R1743:Csmd3
|
UTSW |
15 |
48622089 |
missense |
probably damaging |
1.00 |
R1749:Csmd3
|
UTSW |
15 |
47585660 |
missense |
probably damaging |
1.00 |
R1752:Csmd3
|
UTSW |
15 |
47660273 |
missense |
probably benign |
0.15 |
R1769:Csmd3
|
UTSW |
15 |
47704109 |
splice site |
probably benign |
|
R1775:Csmd3
|
UTSW |
15 |
47899739 |
missense |
probably damaging |
0.99 |
R1795:Csmd3
|
UTSW |
15 |
47857920 |
missense |
possibly damaging |
0.95 |
R1819:Csmd3
|
UTSW |
15 |
47753735 |
missense |
possibly damaging |
0.56 |
R1840:Csmd3
|
UTSW |
15 |
47607164 |
missense |
probably damaging |
1.00 |
R1860:Csmd3
|
UTSW |
15 |
47659192 |
missense |
probably damaging |
1.00 |
R1861:Csmd3
|
UTSW |
15 |
47659192 |
missense |
probably damaging |
1.00 |
R1879:Csmd3
|
UTSW |
15 |
47657519 |
missense |
possibly damaging |
0.90 |
R1958:Csmd3
|
UTSW |
15 |
48004639 |
critical splice donor site |
probably null |
|
R1965:Csmd3
|
UTSW |
15 |
47849748 |
missense |
probably benign |
0.15 |
R1970:Csmd3
|
UTSW |
15 |
48673531 |
missense |
probably damaging |
1.00 |
R2029:Csmd3
|
UTSW |
15 |
47838579 |
missense |
probably damaging |
1.00 |
R2051:Csmd3
|
UTSW |
15 |
48621993 |
critical splice donor site |
probably null |
|
R2108:Csmd3
|
UTSW |
15 |
48004861 |
missense |
possibly damaging |
0.81 |
R2132:Csmd3
|
UTSW |
15 |
48457503 |
missense |
probably benign |
0.06 |
R2146:Csmd3
|
UTSW |
15 |
47741236 |
frame shift |
probably null |
|
R2147:Csmd3
|
UTSW |
15 |
47741236 |
frame shift |
probably null |
|
R2148:Csmd3
|
UTSW |
15 |
47741236 |
frame shift |
probably null |
|
R2157:Csmd3
|
UTSW |
15 |
47695787 |
missense |
probably damaging |
0.99 |
R2159:Csmd3
|
UTSW |
15 |
47741236 |
frame shift |
probably null |
|
R2160:Csmd3
|
UTSW |
15 |
47741236 |
frame shift |
probably null |
|
R2161:Csmd3
|
UTSW |
15 |
47741236 |
frame shift |
probably null |
|
R2162:Csmd3
|
UTSW |
15 |
47741236 |
frame shift |
probably null |
|
R2164:Csmd3
|
UTSW |
15 |
47741236 |
frame shift |
probably null |
|
R2213:Csmd3
|
UTSW |
15 |
47820447 |
missense |
possibly damaging |
0.92 |
R2301:Csmd3
|
UTSW |
15 |
47731998 |
missense |
probably damaging |
1.00 |
R2302:Csmd3
|
UTSW |
15 |
48314051 |
missense |
probably benign |
|
R2355:Csmd3
|
UTSW |
15 |
47741236 |
frame shift |
probably null |
|
R2497:Csmd3
|
UTSW |
15 |
47741236 |
frame shift |
probably null |
|
R2509:Csmd3
|
UTSW |
15 |
47741236 |
frame shift |
probably null |
|
R2566:Csmd3
|
UTSW |
15 |
47741236 |
frame shift |
probably null |
|
R2567:Csmd3
|
UTSW |
15 |
47741236 |
frame shift |
probably null |
|
R2568:Csmd3
|
UTSW |
15 |
47741236 |
frame shift |
probably null |
|
R2570:Csmd3
|
UTSW |
15 |
47741236 |
frame shift |
probably null |
|
R2571:Csmd3
|
UTSW |
15 |
47741236 |
frame shift |
probably null |
|
R2870:Csmd3
|
UTSW |
15 |
47857924 |
missense |
probably damaging |
1.00 |
R2870:Csmd3
|
UTSW |
15 |
47857924 |
missense |
probably damaging |
1.00 |
R2907:Csmd3
|
UTSW |
15 |
48011053 |
missense |
probably damaging |
0.99 |
R3116:Csmd3
|
UTSW |
15 |
47657599 |
missense |
probably damaging |
1.00 |
R3423:Csmd3
|
UTSW |
15 |
47847252 |
missense |
probably damaging |
0.98 |
R3425:Csmd3
|
UTSW |
15 |
47847252 |
missense |
probably damaging |
0.98 |
R3508:Csmd3
|
UTSW |
15 |
47741236 |
frame shift |
probably null |
|
R3746:Csmd3
|
UTSW |
15 |
47849766 |
missense |
probably benign |
0.04 |
R3813:Csmd3
|
UTSW |
15 |
48791813 |
missense |
possibly damaging |
0.82 |
R3832:Csmd3
|
UTSW |
15 |
47741236 |
frame shift |
probably null |
|
R3959:Csmd3
|
UTSW |
15 |
47644189 |
missense |
probably benign |
0.18 |
R4042:Csmd3
|
UTSW |
15 |
47614084 |
missense |
probably damaging |
1.00 |
R4043:Csmd3
|
UTSW |
15 |
47755966 |
critical splice donor site |
probably null |
|
R4191:Csmd3
|
UTSW |
15 |
47847271 |
missense |
probably damaging |
0.99 |
R4192:Csmd3
|
UTSW |
15 |
47847271 |
missense |
probably damaging |
0.99 |
R4419:Csmd3
|
UTSW |
15 |
47704311 |
missense |
probably damaging |
1.00 |
R4426:Csmd3
|
UTSW |
15 |
47669185 |
missense |
possibly damaging |
0.51 |
R4434:Csmd3
|
UTSW |
15 |
47899795 |
missense |
possibly damaging |
0.68 |
R4438:Csmd3
|
UTSW |
15 |
47899795 |
missense |
possibly damaging |
0.68 |
R4490:Csmd3
|
UTSW |
15 |
48314033 |
missense |
possibly damaging |
0.83 |
R4562:Csmd3
|
UTSW |
15 |
47899844 |
missense |
probably benign |
0.32 |
R4604:Csmd3
|
UTSW |
15 |
48004815 |
missense |
possibly damaging |
0.90 |
R4620:Csmd3
|
UTSW |
15 |
47585753 |
missense |
probably benign |
0.09 |
R4632:Csmd3
|
UTSW |
15 |
48011209 |
missense |
probably damaging |
0.99 |
R4679:Csmd3
|
UTSW |
15 |
48161083 |
nonsense |
probably null |
|
R4696:Csmd3
|
UTSW |
15 |
47913968 |
missense |
probably benign |
0.24 |
R4718:Csmd3
|
UTSW |
15 |
47698150 |
nonsense |
probably null |
|
R4723:Csmd3
|
UTSW |
15 |
47669160 |
missense |
probably benign |
0.29 |
R4801:Csmd3
|
UTSW |
15 |
47621292 |
missense |
probably damaging |
1.00 |
R4802:Csmd3
|
UTSW |
15 |
47621292 |
missense |
probably damaging |
1.00 |
R4806:Csmd3
|
UTSW |
15 |
48314068 |
missense |
probably benign |
|
R4816:Csmd3
|
UTSW |
15 |
47857934 |
missense |
possibly damaging |
0.68 |
R4935:Csmd3
|
UTSW |
15 |
48161084 |
missense |
probably damaging |
1.00 |
R4955:Csmd3
|
UTSW |
15 |
48673518 |
missense |
probably damaging |
0.99 |
R4991:Csmd3
|
UTSW |
15 |
48001478 |
missense |
probably damaging |
1.00 |
R5031:Csmd3
|
UTSW |
15 |
47659192 |
missense |
probably damaging |
1.00 |
R5034:Csmd3
|
UTSW |
15 |
47629287 |
missense |
possibly damaging |
0.94 |
R5035:Csmd3
|
UTSW |
15 |
47590779 |
missense |
probably damaging |
1.00 |
R5120:Csmd3
|
UTSW |
15 |
48673495 |
nonsense |
probably null |
|
R5224:Csmd3
|
UTSW |
15 |
47888684 |
missense |
possibly damaging |
0.91 |
R5235:Csmd3
|
UTSW |
15 |
47629278 |
missense |
probably benign |
0.20 |
R5279:Csmd3
|
UTSW |
15 |
48791944 |
splice site |
probably null |
|
R5360:Csmd3
|
UTSW |
15 |
47669203 |
missense |
probably damaging |
0.99 |
R5365:Csmd3
|
UTSW |
15 |
48004749 |
missense |
possibly damaging |
0.68 |
R5379:Csmd3
|
UTSW |
15 |
47636450 |
nonsense |
probably null |
|
R5381:Csmd3
|
UTSW |
15 |
47741215 |
missense |
probably benign |
0.21 |
R5393:Csmd3
|
UTSW |
15 |
47633703 |
missense |
probably damaging |
1.00 |
R5413:Csmd3
|
UTSW |
15 |
47838435 |
missense |
probably damaging |
1.00 |
R5549:Csmd3
|
UTSW |
15 |
48185357 |
missense |
probably damaging |
0.98 |
R5550:Csmd3
|
UTSW |
15 |
48185357 |
missense |
probably damaging |
0.98 |
R5551:Csmd3
|
UTSW |
15 |
48314096 |
missense |
probably benign |
0.13 |
R5567:Csmd3
|
UTSW |
15 |
47645468 |
missense |
possibly damaging |
0.92 |
R5621:Csmd3
|
UTSW |
15 |
48313978 |
missense |
possibly damaging |
0.84 |
R5668:Csmd3
|
UTSW |
15 |
47695755 |
missense |
possibly damaging |
0.48 |
R5677:Csmd3
|
UTSW |
15 |
48622051 |
missense |
probably damaging |
0.98 |
R5701:Csmd3
|
UTSW |
15 |
47650221 |
missense |
probably damaging |
1.00 |
R5701:Csmd3
|
UTSW |
15 |
48540333 |
missense |
probably damaging |
0.99 |
R5871:Csmd3
|
UTSW |
15 |
47888716 |
missense |
probably damaging |
0.98 |
R5872:Csmd3
|
UTSW |
15 |
47582527 |
missense |
probably damaging |
1.00 |
R5874:Csmd3
|
UTSW |
15 |
47644270 |
missense |
probably damaging |
1.00 |
R5952:Csmd3
|
UTSW |
15 |
47733505 |
missense |
probably damaging |
0.98 |
R5956:Csmd3
|
UTSW |
15 |
48791882 |
missense |
possibly damaging |
0.84 |
R5966:Csmd3
|
UTSW |
15 |
47849739 |
missense |
probably damaging |
0.96 |
R5969:Csmd3
|
UTSW |
15 |
47947990 |
missense |
probably damaging |
1.00 |
R5989:Csmd3
|
UTSW |
15 |
47590764 |
missense |
possibly damaging |
0.69 |
R6017:Csmd3
|
UTSW |
15 |
48314012 |
missense |
possibly damaging |
0.95 |
R6057:Csmd3
|
UTSW |
15 |
47755391 |
missense |
probably damaging |
1.00 |
R6127:Csmd3
|
UTSW |
15 |
47650228 |
missense |
probably damaging |
1.00 |
R6178:Csmd3
|
UTSW |
15 |
48673458 |
missense |
probably damaging |
1.00 |
R6198:Csmd3
|
UTSW |
15 |
48313877 |
missense |
probably benign |
0.28 |
R6213:Csmd3
|
UTSW |
15 |
47629260 |
missense |
probably damaging |
1.00 |
R6256:Csmd3
|
UTSW |
15 |
47669729 |
missense |
probably damaging |
1.00 |
R6274:Csmd3
|
UTSW |
15 |
47621437 |
missense |
probably benign |
|
R6327:Csmd3
|
UTSW |
15 |
47881387 |
missense |
probably damaging |
1.00 |
R6354:Csmd3
|
UTSW |
15 |
47881489 |
missense |
probably damaging |
1.00 |
R6405:Csmd3
|
UTSW |
15 |
47820371 |
missense |
probably damaging |
0.99 |
R6410:Csmd3
|
UTSW |
15 |
48673407 |
missense |
probably damaging |
1.00 |
R6416:Csmd3
|
UTSW |
15 |
48673560 |
missense |
probably damaging |
1.00 |
R6463:Csmd3
|
UTSW |
15 |
47676479 |
missense |
probably damaging |
1.00 |
R6536:Csmd3
|
UTSW |
15 |
47838467 |
missense |
probably damaging |
1.00 |
R6625:Csmd3
|
UTSW |
15 |
47607075 |
missense |
probably benign |
0.02 |
R6695:Csmd3
|
UTSW |
15 |
47857834 |
missense |
probably damaging |
0.99 |
R6895:Csmd3
|
UTSW |
15 |
47666514 |
splice site |
probably null |
|
R6906:Csmd3
|
UTSW |
15 |
47847173 |
missense |
probably benign |
0.01 |
R6914:Csmd3
|
UTSW |
15 |
48011138 |
missense |
possibly damaging |
0.53 |
R6920:Csmd3
|
UTSW |
15 |
47644205 |
missense |
probably damaging |
1.00 |
R7024:Csmd3
|
UTSW |
15 |
47710991 |
missense |
probably damaging |
1.00 |
R7178:Csmd3
|
UTSW |
15 |
47590774 |
missense |
|
|
R7192:Csmd3
|
UTSW |
15 |
47704237 |
missense |
|
|
R7220:Csmd3
|
UTSW |
15 |
48457598 |
missense |
probably damaging |
0.99 |
R7362:Csmd3
|
UTSW |
15 |
47755992 |
missense |
possibly damaging |
0.65 |
R7380:Csmd3
|
UTSW |
15 |
47586965 |
missense |
|
|
R7397:Csmd3
|
UTSW |
15 |
47695734 |
missense |
|
|
R7467:Csmd3
|
UTSW |
15 |
47629244 |
missense |
|
|
R7585:Csmd3
|
UTSW |
15 |
48622075 |
missense |
possibly damaging |
0.76 |
R7623:Csmd3
|
UTSW |
15 |
47949938 |
missense |
|
|
R7649:Csmd3
|
UTSW |
15 |
47669143 |
missense |
|
|
R7691:Csmd3
|
UTSW |
15 |
47741173 |
missense |
|
|
R7695:Csmd3
|
UTSW |
15 |
47820381 |
missense |
|
|
R7759:Csmd3
|
UTSW |
15 |
47698173 |
missense |
|
|
R7817:Csmd3
|
UTSW |
15 |
47857960 |
missense |
probably damaging |
0.99 |
R8052:Csmd3
|
UTSW |
15 |
47706387 |
missense |
|
|
R8089:Csmd3
|
UTSW |
15 |
47669207 |
missense |
|
|
R8110:Csmd3
|
UTSW |
15 |
47644270 |
missense |
probably damaging |
1.00 |
R8152:Csmd3
|
UTSW |
15 |
47669464 |
splice site |
probably null |
|
R8323:Csmd3
|
UTSW |
15 |
47698151 |
missense |
|
|
R8341:Csmd3
|
UTSW |
15 |
47698151 |
missense |
|
|
R8353:Csmd3
|
UTSW |
15 |
47949953 |
missense |
probably damaging |
1.00 |
R8364:Csmd3
|
UTSW |
15 |
48673441 |
missense |
probably damaging |
1.00 |
R8405:Csmd3
|
UTSW |
15 |
47755983 |
missense |
probably damaging |
1.00 |
R8412:Csmd3
|
UTSW |
15 |
47636398 |
missense |
|
|
R8436:Csmd3
|
UTSW |
15 |
48004822 |
missense |
probably damaging |
0.97 |
R8516:Csmd3
|
UTSW |
15 |
47629365 |
nonsense |
probably null |
|
R8553:Csmd3
|
UTSW |
15 |
47621328 |
missense |
possibly damaging |
0.52 |
R8554:Csmd3
|
UTSW |
15 |
47644142 |
missense |
probably benign |
0.32 |
R8678:Csmd3
|
UTSW |
15 |
47636453 |
missense |
|
|
R8751:Csmd3
|
UTSW |
15 |
47982006 |
missense |
|
|
R8758:Csmd3
|
UTSW |
15 |
47606197 |
missense |
|
|
R8768:Csmd3
|
UTSW |
15 |
47698176 |
missense |
|
|
R8785:Csmd3
|
UTSW |
15 |
48314086 |
missense |
probably benign |
0.00 |
R8788:Csmd3
|
UTSW |
15 |
47607117 |
missense |
|
|
R8798:Csmd3
|
UTSW |
15 |
47731986 |
missense |
|
|
R8801:Csmd3
|
UTSW |
15 |
48457628 |
missense |
possibly damaging |
0.70 |
R8811:Csmd3
|
UTSW |
15 |
47696743 |
missense |
|
|
R8844:Csmd3
|
UTSW |
15 |
47741194 |
missense |
probably damaging |
0.96 |
R8844:Csmd3
|
UTSW |
15 |
48673419 |
missense |
probably damaging |
0.98 |
R8892:Csmd3
|
UTSW |
15 |
47741238 |
missense |
|
|
R8897:Csmd3
|
UTSW |
15 |
48359343 |
missense |
probably benign |
0.06 |
R9001:Csmd3
|
UTSW |
15 |
47733505 |
missense |
|
|
R9016:Csmd3
|
UTSW |
15 |
47659042 |
missense |
|
|
R9109:Csmd3
|
UTSW |
15 |
47753791 |
missense |
|
|
R9121:Csmd3
|
UTSW |
15 |
47820378 |
missense |
|
|
R9155:Csmd3
|
UTSW |
15 |
47585655 |
missense |
|
|
R9176:Csmd3
|
UTSW |
15 |
48001541 |
missense |
|
|
R9281:Csmd3
|
UTSW |
15 |
47596876 |
missense |
|
|
R9298:Csmd3
|
UTSW |
15 |
47753791 |
missense |
|
|
R9304:Csmd3
|
UTSW |
15 |
47706409 |
missense |
|
|
R9367:Csmd3
|
UTSW |
15 |
47704168 |
missense |
|
|
R9405:Csmd3
|
UTSW |
15 |
47675791 |
missense |
|
|
U24488:Csmd3
|
UTSW |
15 |
47710399 |
missense |
probably damaging |
1.00 |
V8831:Csmd3
|
UTSW |
15 |
48457696 |
missense |
probably damaging |
0.96 |
X0021:Csmd3
|
UTSW |
15 |
47970093 |
nonsense |
probably null |
|
Z1088:Csmd3
|
UTSW |
15 |
47636393 |
missense |
probably damaging |
1.00 |
Z1088:Csmd3
|
UTSW |
15 |
47847281 |
missense |
probably damaging |
0.98 |
Z1177:Csmd3
|
UTSW |
15 |
47675734 |
missense |
|
|
Z1177:Csmd3
|
UTSW |
15 |
47733417 |
missense |
|
|
|
Posted On |
2013-12-03 |