Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aaas |
A |
C |
15: 102,246,826 (GRCm39) |
S511A |
probably benign |
Het |
Abca3 |
C |
T |
17: 24,615,444 (GRCm39) |
T845I |
probably benign |
Het |
Acaa2 |
G |
A |
18: 74,938,945 (GRCm39) |
A377T |
possibly damaging |
Het |
Adcy4 |
C |
A |
14: 56,009,824 (GRCm39) |
E743* |
probably null |
Het |
Ahnak |
T |
A |
19: 8,990,458 (GRCm39) |
L3914* |
probably null |
Het |
Akap1 |
G |
T |
11: 88,736,343 (GRCm39) |
N106K |
possibly damaging |
Het |
Arid2 |
C |
T |
15: 96,270,387 (GRCm39) |
T1500I |
probably benign |
Het |
Atp6v0a2 |
T |
A |
5: 124,783,909 (GRCm39) |
Y252* |
probably null |
Het |
C4bp |
A |
G |
1: 130,581,090 (GRCm39) |
S140P |
probably damaging |
Het |
Cald1 |
A |
G |
6: 34,739,047 (GRCm39) |
I384M |
probably damaging |
Het |
Cdk12 |
A |
G |
11: 98,101,809 (GRCm39) |
I556V |
unknown |
Het |
Chmp2a |
T |
C |
7: 12,766,237 (GRCm39) |
S174G |
probably benign |
Het |
Clybl |
T |
A |
14: 122,548,755 (GRCm39) |
N52K |
probably damaging |
Het |
Cyp4a29 |
C |
A |
4: 115,108,088 (GRCm39) |
S303R |
probably benign |
Het |
Dab2 |
T |
A |
15: 6,447,796 (GRCm39) |
D59E |
probably damaging |
Het |
Dag1 |
C |
A |
9: 108,086,214 (GRCm39) |
R309L |
probably damaging |
Het |
Dync1i2 |
T |
A |
2: 71,088,483 (GRCm39) |
M505K |
probably benign |
Het |
Eif2b1 |
A |
T |
5: 124,717,075 (GRCm39) |
M1K |
probably null |
Het |
Epc1 |
A |
G |
18: 6,448,917 (GRCm39) |
S577P |
probably benign |
Het |
Eps8l1 |
T |
A |
7: 4,463,945 (GRCm39) |
I23N |
possibly damaging |
Het |
Etl4 |
A |
G |
2: 20,535,037 (GRCm39) |
E164G |
probably damaging |
Het |
Firrm |
C |
A |
1: 163,789,613 (GRCm39) |
G641* |
probably null |
Het |
Gadl1 |
A |
T |
9: 115,766,230 (GRCm39) |
M1L |
probably benign |
Het |
Gda |
T |
C |
19: 21,374,908 (GRCm39) |
D336G |
probably damaging |
Het |
Grm2 |
A |
T |
9: 106,527,645 (GRCm39) |
V413D |
probably damaging |
Het |
Hnrnpll |
G |
T |
17: 80,346,051 (GRCm39) |
N403K |
probably damaging |
Het |
Ifit1 |
T |
A |
19: 34,625,238 (GRCm39) |
F125I |
probably damaging |
Het |
Igkv5-43 |
C |
T |
6: 69,800,892 (GRCm39) |
V2I |
probably benign |
Het |
Kat5 |
A |
C |
19: 5,659,507 (GRCm39) |
Y44* |
probably null |
Het |
Klc2 |
A |
G |
19: 5,162,884 (GRCm39) |
V205A |
probably damaging |
Het |
Klrb1c |
T |
A |
6: 128,761,706 (GRCm39) |
T133S |
possibly damaging |
Het |
Krt20 |
A |
G |
11: 99,326,283 (GRCm39) |
L157P |
probably damaging |
Het |
Krt26 |
G |
T |
11: 99,228,597 (GRCm39) |
T45N |
possibly damaging |
Het |
Lama2 |
C |
T |
10: 26,866,876 (GRCm39) |
D2873N |
probably damaging |
Het |
Lig1 |
T |
A |
7: 13,020,532 (GRCm39) |
C114S |
possibly damaging |
Het |
Lonp1 |
G |
C |
17: 56,927,263 (GRCm39) |
A330G |
probably benign |
Het |
Maml2 |
A |
T |
9: 13,608,616 (GRCm39) |
R21S |
probably damaging |
Het |
Mrpl35 |
C |
T |
6: 71,794,720 (GRCm39) |
V83I |
probably benign |
Het |
Myo3b |
A |
G |
2: 70,069,254 (GRCm39) |
R498G |
probably benign |
Het |
Nup153 |
C |
A |
13: 46,837,482 (GRCm39) |
E1247* |
probably null |
Het |
Or2t48 |
A |
T |
11: 58,420,557 (GRCm39) |
M85K |
probably damaging |
Het |
Pcdhac2 |
A |
G |
18: 37,277,257 (GRCm39) |
N79S |
probably benign |
Het |
Pcgf6 |
C |
T |
19: 47,036,406 (GRCm39) |
G221D |
probably damaging |
Het |
Phf11b |
C |
T |
14: 59,558,953 (GRCm39) |
D260N |
probably benign |
Het |
Pla2g5 |
T |
C |
4: 138,531,921 (GRCm39) |
M28V |
possibly damaging |
Het |
Prpf8 |
T |
C |
11: 75,395,927 (GRCm39) |
S1934P |
possibly damaging |
Het |
Prr5 |
A |
G |
15: 84,640,570 (GRCm39) |
S140G |
probably benign |
Het |
Prrc2c |
T |
C |
1: 162,501,098 (GRCm39) |
D1235G |
probably damaging |
Het |
Rasgrp2 |
T |
C |
19: 6,455,031 (GRCm39) |
S254P |
probably damaging |
Het |
Rassf8 |
C |
T |
6: 145,765,907 (GRCm39) |
|
probably benign |
Het |
Rgs20 |
T |
A |
1: 4,982,666 (GRCm39) |
E167D |
probably damaging |
Het |
Rmnd1 |
G |
T |
10: 4,372,159 (GRCm39) |
A180E |
probably damaging |
Het |
Rnf103 |
A |
G |
6: 71,486,992 (GRCm39) |
D541G |
probably benign |
Het |
Rpl9 |
G |
T |
5: 65,546,468 (GRCm39) |
Q140K |
probably benign |
Het |
Sfmbt1 |
T |
G |
14: 30,506,148 (GRCm39) |
|
probably null |
Het |
Srrm4 |
G |
T |
5: 116,587,672 (GRCm39) |
|
probably benign |
Het |
Sucla2 |
T |
A |
14: 73,832,836 (GRCm39) |
V447E |
probably damaging |
Het |
Tbc1d1 |
A |
G |
5: 64,331,055 (GRCm39) |
D78G |
probably benign |
Het |
Tcp1 |
T |
A |
17: 13,138,224 (GRCm39) |
|
probably null |
Het |
Tctn3 |
C |
A |
19: 40,597,361 (GRCm39) |
E230* |
probably null |
Het |
Thsd7b |
G |
A |
1: 130,090,673 (GRCm39) |
|
probably null |
Het |
Tmem63a |
A |
G |
1: 180,797,811 (GRCm39) |
M621V |
probably benign |
Het |
Tnxb |
A |
T |
17: 34,936,504 (GRCm39) |
K2756* |
probably null |
Het |
Trpm8 |
G |
A |
1: 88,287,373 (GRCm39) |
|
probably null |
Het |
Txndc16 |
C |
A |
14: 45,373,335 (GRCm39) |
V764F |
possibly damaging |
Het |
Ush2a |
A |
T |
1: 188,492,020 (GRCm39) |
D3103V |
possibly damaging |
Het |
Usp22 |
A |
T |
11: 61,049,206 (GRCm39) |
I381N |
probably damaging |
Het |
Zfp462 |
T |
A |
4: 55,013,464 (GRCm39) |
M1810K |
probably benign |
Het |
Zfp64 |
T |
A |
2: 168,741,888 (GRCm39) |
M347L |
possibly damaging |
Het |
Zfp69 |
T |
C |
4: 120,787,719 (GRCm39) |
D532G |
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 |
|
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 |
R5801:Shank1
|
UTSW |
7 |
44,006,240 (GRCm39) |
missense |
possibly damaging |
0.77 |
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 |
|
|