Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AAdacl4fm3 |
T |
A |
4: 144,430,206 (GRCm39) |
D261V |
probably damaging |
Het |
Adam15 |
C |
T |
3: 89,249,668 (GRCm39) |
V667I |
probably damaging |
Het |
Adamts14 |
T |
C |
10: 61,038,775 (GRCm39) |
S912G |
probably damaging |
Het |
Adamts20 |
C |
A |
15: 94,245,551 (GRCm39) |
E584* |
probably null |
Het |
Ago3 |
A |
T |
4: 126,265,561 (GRCm39) |
N284K |
possibly damaging |
Het |
Alx3 |
T |
A |
3: 107,512,257 (GRCm39) |
Y298* |
probably null |
Het |
Arhgap32 |
A |
G |
9: 32,167,084 (GRCm39) |
I574V |
probably benign |
Het |
Bsn |
C |
T |
9: 107,990,208 (GRCm39) |
R1848Q |
possibly damaging |
Het |
Caskin2 |
T |
C |
11: 115,694,299 (GRCm39) |
D400G |
probably damaging |
Het |
Cdc73 |
T |
A |
1: 143,484,281 (GRCm39) |
H525L |
probably benign |
Het |
Cep135 |
A |
G |
5: 76,778,523 (GRCm39) |
E674G |
probably damaging |
Het |
Cic |
G |
A |
7: 24,970,863 (GRCm39) |
R198Q |
possibly damaging |
Het |
Col5a2 |
T |
C |
1: 45,428,641 (GRCm39) |
|
probably null |
Het |
Col6a5 |
A |
G |
9: 105,825,566 (GRCm39) |
V9A |
unknown |
Het |
Cpsf7 |
A |
T |
19: 10,516,996 (GRCm39) |
D366V |
probably benign |
Het |
Cuedc2 |
T |
C |
19: 46,319,796 (GRCm39) |
E173G |
probably damaging |
Het |
D5Ertd579e |
T |
C |
5: 36,761,913 (GRCm39) |
E1318G |
probably damaging |
Het |
Ddx55 |
T |
C |
5: 124,704,560 (GRCm39) |
|
probably null |
Het |
Dennd1b |
T |
A |
1: 138,967,727 (GRCm39) |
|
probably null |
Het |
Dpy19l3 |
T |
C |
7: 35,424,723 (GRCm39) |
T111A |
probably benign |
Het |
Edn1 |
C |
A |
13: 42,460,282 (GRCm39) |
A179E |
probably benign |
Het |
Eif2b1 |
T |
C |
5: 124,712,775 (GRCm39) |
|
probably null |
Het |
Epha5 |
A |
G |
5: 84,479,085 (GRCm39) |
|
probably null |
Het |
Erc1 |
T |
A |
6: 119,750,783 (GRCm39) |
N466I |
probably damaging |
Het |
Ermp1 |
A |
G |
19: 29,590,228 (GRCm39) |
F825L |
probably damaging |
Het |
Fbh1 |
T |
C |
2: 11,774,637 (GRCm39) |
D36G |
probably damaging |
Het |
Fbxo41 |
G |
T |
6: 85,461,515 (GRCm39) |
F64L |
probably damaging |
Het |
Gabrb2 |
T |
C |
11: 42,312,216 (GRCm39) |
S14P |
probably benign |
Het |
Gm6505 |
A |
T |
3: 28,819,116 (GRCm39) |
|
noncoding transcript |
Het |
Ighv1-18 |
T |
A |
12: 114,646,328 (GRCm39) |
D91V |
probably damaging |
Het |
Imp3 |
A |
G |
9: 56,845,086 (GRCm39) |
D99G |
probably benign |
Het |
Iqub |
T |
C |
6: 24,449,768 (GRCm39) |
K699R |
probably benign |
Het |
Itpk1 |
A |
G |
12: 102,540,204 (GRCm39) |
V293A |
probably damaging |
Het |
Lrrc49 |
A |
T |
9: 60,509,916 (GRCm39) |
F157L |
probably damaging |
Het |
Mapk1ip1 |
T |
A |
7: 138,438,239 (GRCm39) |
T64S |
possibly damaging |
Het |
Mrpl9 |
T |
C |
3: 94,355,103 (GRCm39) |
L225P |
possibly damaging |
Het |
Ms4a14 |
A |
G |
19: 11,279,150 (GRCm39) |
L1136S |
possibly damaging |
Het |
Ms4a14 |
A |
T |
19: 11,279,246 (GRCm39) |
I1104K |
possibly damaging |
Het |
Nkain2 |
T |
C |
10: 32,278,264 (GRCm39) |
T54A |
probably damaging |
Het |
Ociad2 |
A |
G |
5: 73,483,642 (GRCm39) |
F60S |
probably damaging |
Het |
Or1e1f |
T |
C |
11: 73,855,772 (GRCm39) |
F113L |
probably benign |
Het |
Polk |
T |
A |
13: 96,620,094 (GRCm39) |
H723L |
probably damaging |
Het |
Prickle4 |
C |
A |
17: 47,999,698 (GRCm39) |
R285L |
possibly damaging |
Het |
Psmd2 |
A |
G |
16: 20,473,672 (GRCm39) |
N121S |
probably damaging |
Het |
Rab11fip5 |
T |
A |
6: 85,314,582 (GRCm39) |
S1212C |
probably damaging |
Het |
Rasgef1c |
T |
G |
11: 49,860,883 (GRCm39) |
M266R |
probably damaging |
Het |
Rpusd4 |
A |
G |
9: 35,181,369 (GRCm39) |
E155G |
possibly damaging |
Het |
Rrbp1 |
A |
G |
2: 143,831,703 (GRCm39) |
S155P |
probably damaging |
Het |
Safb2 |
T |
C |
17: 56,870,103 (GRCm39) |
Y991C |
possibly damaging |
Het |
Slc22a14 |
A |
G |
9: 119,001,149 (GRCm39) |
F482L |
probably benign |
Het |
Slc35e3 |
T |
A |
10: 117,581,767 (GRCm39) |
M109L |
probably benign |
Het |
Slco4c1 |
T |
C |
1: 96,799,809 (GRCm39) |
N9S |
probably damaging |
Het |
Slco6b1 |
C |
T |
1: 96,875,356 (GRCm39) |
|
noncoding transcript |
Het |
Sptan1 |
A |
G |
2: 29,920,613 (GRCm39) |
|
probably null |
Het |
Sptlc2 |
T |
C |
12: 87,388,545 (GRCm39) |
|
probably null |
Het |
Stk10 |
C |
T |
11: 32,546,748 (GRCm39) |
P335L |
probably benign |
Het |
Strip1 |
A |
C |
3: 107,528,757 (GRCm39) |
L391R |
possibly damaging |
Het |
Tacr1 |
T |
A |
6: 82,534,134 (GRCm39) |
S387T |
probably benign |
Het |
Thbs2 |
A |
T |
17: 14,908,125 (GRCm39) |
F213I |
probably damaging |
Het |
Thbs3 |
A |
T |
3: 89,131,704 (GRCm39) |
Y692F |
probably benign |
Het |
Tktl2 |
C |
A |
8: 66,966,299 (GRCm39) |
A619E |
probably benign |
Het |
Tmc3 |
A |
T |
7: 83,271,686 (GRCm39) |
E946V |
possibly damaging |
Het |
Tmem132d |
A |
G |
5: 127,861,964 (GRCm39) |
V719A |
possibly damaging |
Het |
Trpa1 |
T |
C |
1: 14,968,302 (GRCm39) |
H488R |
probably damaging |
Het |
Tsfm |
TCACTCC |
TCACTCCACTCC |
10: 126,858,706 (GRCm39) |
|
probably null |
Het |
Wdr35 |
A |
G |
12: 9,056,723 (GRCm39) |
T503A |
possibly damaging |
Het |
Zfp109 |
T |
C |
7: 23,928,126 (GRCm39) |
K436E |
probably damaging |
Het |
Zfp423 |
A |
G |
8: 88,585,990 (GRCm39) |
Y78H |
probably damaging |
Het |
Zfp970 |
A |
G |
2: 177,165,151 (GRCm39) |
K26E |
probably damaging |
Het |
|
Other mutations in Shank1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00970:Shank1
|
APN |
7 |
44,003,662 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01293:Shank1
|
APN |
7 |
44,003,660 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL01319:Shank1
|
APN |
7 |
44,002,547 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01347:Shank1
|
APN |
7 |
43,991,544 (GRCm39) |
missense |
unknown |
|
IGL01621:Shank1
|
APN |
7 |
44,001,023 (GRCm39) |
missense |
unknown |
|
IGL01621:Shank1
|
APN |
7 |
43,991,889 (GRCm39) |
missense |
unknown |
|
IGL01964:Shank1
|
APN |
7 |
43,975,102 (GRCm39) |
missense |
unknown |
|
IGL02309:Shank1
|
APN |
7 |
43,962,266 (GRCm39) |
missense |
unknown |
|
IGL02325:Shank1
|
APN |
7 |
43,976,504 (GRCm39) |
nonsense |
probably null |
|
IGL02387:Shank1
|
APN |
7 |
44,006,361 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02958:Shank1
|
APN |
7 |
44,003,897 (GRCm39) |
missense |
possibly damaging |
0.59 |
R0098:Shank1
|
UTSW |
7 |
43,962,709 (GRCm39) |
missense |
unknown |
|
R0098:Shank1
|
UTSW |
7 |
43,962,709 (GRCm39) |
missense |
unknown |
|
R0197:Shank1
|
UTSW |
7 |
44,001,718 (GRCm39) |
missense |
unknown |
|
R0326:Shank1
|
UTSW |
7 |
43,968,594 (GRCm39) |
missense |
unknown |
|
R0365:Shank1
|
UTSW |
7 |
44,003,401 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0883:Shank1
|
UTSW |
7 |
44,001,718 (GRCm39) |
missense |
unknown |
|
R1033:Shank1
|
UTSW |
7 |
44,006,220 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1390:Shank1
|
UTSW |
7 |
44,006,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R1453:Shank1
|
UTSW |
7 |
43,965,499 (GRCm39) |
missense |
unknown |
|
R1594:Shank1
|
UTSW |
7 |
43,976,647 (GRCm39) |
nonsense |
probably null |
|
R1713:Shank1
|
UTSW |
7 |
43,969,161 (GRCm39) |
missense |
unknown |
|
R1783:Shank1
|
UTSW |
7 |
44,002,161 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1869:Shank1
|
UTSW |
7 |
43,991,539 (GRCm39) |
nonsense |
probably null |
|
R1870:Shank1
|
UTSW |
7 |
43,991,539 (GRCm39) |
nonsense |
probably null |
|
R1959:Shank1
|
UTSW |
7 |
43,974,801 (GRCm39) |
missense |
unknown |
|
R1962:Shank1
|
UTSW |
7 |
43,993,747 (GRCm39) |
critical splice donor site |
probably null |
|
R2406:Shank1
|
UTSW |
7 |
44,006,376 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2509:Shank1
|
UTSW |
7 |
44,001,547 (GRCm39) |
missense |
unknown |
|
R2509:Shank1
|
UTSW |
7 |
44,001,148 (GRCm39) |
missense |
unknown |
|
R3877:Shank1
|
UTSW |
7 |
43,994,416 (GRCm39) |
missense |
unknown |
|
R4041:Shank1
|
UTSW |
7 |
43,991,586 (GRCm39) |
missense |
unknown |
|
R4249:Shank1
|
UTSW |
7 |
43,969,160 (GRCm39) |
missense |
unknown |
|
R4303:Shank1
|
UTSW |
7 |
43,991,898 (GRCm39) |
missense |
unknown |
|
R4431:Shank1
|
UTSW |
7 |
43,969,076 (GRCm39) |
nonsense |
probably null |
|
R4525:Shank1
|
UTSW |
7 |
44,004,014 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4527:Shank1
|
UTSW |
7 |
44,004,014 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4642:Shank1
|
UTSW |
7 |
43,962,565 (GRCm39) |
missense |
unknown |
|
R4722:Shank1
|
UTSW |
7 |
43,962,638 (GRCm39) |
nonsense |
probably null |
|
R4805:Shank1
|
UTSW |
7 |
43,993,135 (GRCm39) |
missense |
unknown |
|
R4874:Shank1
|
UTSW |
7 |
43,965,497 (GRCm39) |
missense |
unknown |
|
R4904:Shank1
|
UTSW |
7 |
43,983,464 (GRCm39) |
intron |
probably benign |
|
R4939:Shank1
|
UTSW |
7 |
43,975,586 (GRCm39) |
missense |
unknown |
|
R5394:Shank1
|
UTSW |
7 |
44,002,075 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5410:Shank1
|
UTSW |
7 |
44,001,246 (GRCm39) |
missense |
unknown |
|
R5556:Shank1
|
UTSW |
7 |
43,993,739 (GRCm39) |
intron |
probably benign |
|
R5620:Shank1
|
UTSW |
7 |
43,962,160 (GRCm39) |
missense |
unknown |
|
R5656:Shank1
|
UTSW |
7 |
44,002,310 (GRCm39) |
missense |
probably benign |
0.33 |
R5688:Shank1
|
UTSW |
7 |
44,003,911 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5740:Shank1
|
UTSW |
7 |
44,003,164 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6179:Shank1
|
UTSW |
7 |
44,006,630 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6186:Shank1
|
UTSW |
7 |
44,001,990 (GRCm39) |
missense |
probably benign |
0.18 |
R6245:Shank1
|
UTSW |
7 |
44,001,677 (GRCm39) |
missense |
unknown |
|
R6500:Shank1
|
UTSW |
7 |
43,976,645 (GRCm39) |
missense |
unknown |
|
R6602:Shank1
|
UTSW |
7 |
44,001,760 (GRCm39) |
missense |
probably benign |
0.03 |
R6655:Shank1
|
UTSW |
7 |
43,976,644 (GRCm39) |
missense |
unknown |
|
R6709:Shank1
|
UTSW |
7 |
44,003,600 (GRCm39) |
missense |
probably benign |
0.43 |
R6734:Shank1
|
UTSW |
7 |
44,003,110 (GRCm39) |
missense |
probably benign |
0.01 |
R6881:Shank1
|
UTSW |
7 |
44,001,217 (GRCm39) |
missense |
unknown |
|
R6902:Shank1
|
UTSW |
7 |
44,006,239 (GRCm39) |
missense |
probably benign |
0.39 |
R6975:Shank1
|
UTSW |
7 |
43,962,530 (GRCm39) |
splice site |
probably null |
|
R6985:Shank1
|
UTSW |
7 |
43,994,337 (GRCm39) |
missense |
unknown |
|
R7072:Shank1
|
UTSW |
7 |
43,994,370 (GRCm39) |
missense |
unknown |
|
R7116:Shank1
|
UTSW |
7 |
43,976,585 (GRCm39) |
missense |
unknown |
|
R7117:Shank1
|
UTSW |
7 |
43,976,585 (GRCm39) |
missense |
unknown |
|
R7199:Shank1
|
UTSW |
7 |
44,002,564 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7249:Shank1
|
UTSW |
7 |
43,976,585 (GRCm39) |
missense |
unknown |
|
R7252:Shank1
|
UTSW |
7 |
43,976,585 (GRCm39) |
missense |
unknown |
|
R7552:Shank1
|
UTSW |
7 |
44,002,452 (GRCm39) |
missense |
probably benign |
0.00 |
R7653:Shank1
|
UTSW |
7 |
43,969,093 (GRCm39) |
missense |
unknown |
|
R7707:Shank1
|
UTSW |
7 |
43,993,725 (GRCm39) |
missense |
unknown |
|
R7801:Shank1
|
UTSW |
7 |
44,001,022 (GRCm39) |
missense |
unknown |
|
R7804:Shank1
|
UTSW |
7 |
43,962,308 (GRCm39) |
missense |
unknown |
|
R8122:Shank1
|
UTSW |
7 |
43,983,015 (GRCm39) |
missense |
unknown |
|
R8178:Shank1
|
UTSW |
7 |
43,962,748 (GRCm39) |
critical splice donor site |
probably null |
|
R8339:Shank1
|
UTSW |
7 |
43,975,589 (GRCm39) |
missense |
unknown |
|
R8463:Shank1
|
UTSW |
7 |
44,003,605 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9005:Shank1
|
UTSW |
7 |
44,002,409 (GRCm39) |
missense |
probably benign |
0.00 |
R9023:Shank1
|
UTSW |
7 |
43,968,531 (GRCm39) |
missense |
unknown |
|
R9225:Shank1
|
UTSW |
7 |
43,983,470 (GRCm39) |
missense |
unknown |
|
R9234:Shank1
|
UTSW |
7 |
43,962,579 (GRCm39) |
missense |
unknown |
|
R9369:Shank1
|
UTSW |
7 |
44,001,478 (GRCm39) |
missense |
unknown |
|
R9432:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9433:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9434:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9467:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9474:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9475:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9476:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9477:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9519:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9544:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9545:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9598:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9633:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9698:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9699:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9701:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9755:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9783:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9784:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9800:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9802:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
R9803:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
X0019:Shank1
|
UTSW |
7 |
44,006,352 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Shank1
|
UTSW |
7 |
44,001,353 (GRCm39) |
missense |
unknown |
|
Z1088:Shank1
|
UTSW |
7 |
44,001,590 (GRCm39) |
missense |
unknown |
|
Z1177:Shank1
|
UTSW |
7 |
43,975,068 (GRCm39) |
missense |
unknown |
|
|