Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,110,442 (GRCm39) |
D569G |
probably benign |
Het |
Abhd17b |
C |
T |
19: 21,661,485 (GRCm39) |
T224I |
probably benign |
Het |
Atf6b |
T |
A |
17: 34,873,626 (GRCm39) |
S695R |
probably benign |
Het |
Cdh6 |
A |
C |
15: 13,034,276 (GRCm39) |
|
probably benign |
Het |
Cep290 |
G |
T |
10: 100,344,569 (GRCm39) |
C462F |
probably benign |
Het |
Cep290 |
T |
C |
10: 100,397,207 (GRCm39) |
S2156P |
probably benign |
Het |
Cfap20dc |
A |
T |
14: 8,578,384 (GRCm38) |
H119Q |
possibly damaging |
Het |
Cit |
T |
C |
5: 116,014,006 (GRCm39) |
F240L |
probably damaging |
Het |
Ctcf |
T |
A |
8: 106,391,597 (GRCm39) |
H297Q |
probably damaging |
Het |
Dhx29 |
T |
C |
13: 113,103,168 (GRCm39) |
|
probably null |
Het |
Dhx37 |
T |
G |
5: 125,495,777 (GRCm39) |
T835P |
possibly damaging |
Het |
Enc1 |
C |
T |
13: 97,381,588 (GRCm39) |
L33F |
possibly damaging |
Het |
Epyc |
T |
A |
10: 97,485,563 (GRCm39) |
M1K |
probably null |
Het |
F10 |
T |
C |
8: 13,098,292 (GRCm39) |
I165T |
probably damaging |
Het |
Fam124a |
T |
C |
14: 62,824,728 (GRCm39) |
L74P |
probably damaging |
Het |
Fam234b |
A |
G |
6: 135,186,405 (GRCm39) |
S138G |
probably benign |
Het |
Fam81a |
T |
C |
9: 70,006,419 (GRCm39) |
K198E |
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,170,794 (GRCm39) |
Y2199C |
probably damaging |
Het |
Fign |
A |
C |
2: 63,810,744 (GRCm39) |
S175R |
probably damaging |
Het |
Grik1 |
T |
C |
16: 87,848,396 (GRCm39) |
N124S |
possibly damaging |
Het |
Hdac9 |
G |
T |
12: 34,481,944 (GRCm39) |
L175M |
probably damaging |
Het |
Hephl1 |
A |
C |
9: 15,001,852 (GRCm39) |
Y163* |
probably null |
Het |
Hes1 |
G |
A |
16: 29,886,128 (GRCm39) |
G244D |
probably damaging |
Het |
Hexb |
A |
G |
13: 97,313,353 (GRCm39) |
L501P |
probably benign |
Het |
Igkv5-43 |
T |
C |
6: 69,752,936 (GRCm39) |
I49V |
probably benign |
Het |
Ipo5 |
T |
C |
14: 121,170,789 (GRCm39) |
S491P |
probably benign |
Het |
Jakmip2 |
C |
T |
18: 43,692,158 (GRCm39) |
|
probably null |
Het |
Lrfn5 |
A |
G |
12: 61,886,469 (GRCm39) |
T86A |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,358,954 (GRCm39) |
T640A |
probably damaging |
Het |
M6pr |
G |
T |
6: 122,292,085 (GRCm39) |
R139L |
possibly damaging |
Het |
Myl9 |
A |
T |
2: 156,620,579 (GRCm39) |
N39Y |
probably damaging |
Het |
Nlrp3 |
A |
G |
11: 59,440,361 (GRCm39) |
D646G |
probably benign |
Het |
Nlrp5 |
A |
T |
7: 23,116,797 (GRCm39) |
M174L |
probably benign |
Het |
Nnmt |
T |
A |
9: 48,503,331 (GRCm39) |
I232F |
probably damaging |
Het |
Nrg1 |
T |
C |
8: 32,408,171 (GRCm39) |
T21A |
probably benign |
Het |
Or5t15 |
C |
T |
2: 86,681,541 (GRCm39) |
C167Y |
possibly damaging |
Het |
Or6c65 |
A |
G |
10: 129,604,136 (GRCm39) |
Y257C |
probably benign |
Het |
Pcare |
T |
A |
17: 72,056,459 (GRCm39) |
T1073S |
probably benign |
Het |
Pcdh7 |
T |
G |
5: 58,286,597 (GRCm39) |
N1224K |
probably benign |
Het |
Pde4a |
T |
C |
9: 21,114,850 (GRCm39) |
|
probably null |
Het |
Pfkfb3 |
T |
C |
2: 11,488,805 (GRCm39) |
T320A |
probably benign |
Het |
Plekhm2 |
T |
C |
4: 141,364,730 (GRCm39) |
|
probably benign |
Het |
Rabgap1l |
C |
T |
1: 160,299,641 (GRCm39) |
R584H |
probably damaging |
Het |
Rnf157 |
T |
A |
11: 116,287,052 (GRCm39) |
N57I |
probably damaging |
Het |
Rtf1 |
G |
A |
2: 119,531,747 (GRCm39) |
|
probably null |
Het |
Sap130 |
C |
A |
18: 31,782,655 (GRCm39) |
R189S |
probably damaging |
Het |
Slc34a1 |
T |
G |
13: 24,003,025 (GRCm39) |
V225G |
probably benign |
Het |
Smg1 |
T |
C |
7: 117,785,369 (GRCm39) |
|
probably benign |
Het |
Tecta |
G |
A |
9: 42,248,489 (GRCm39) |
T1971I |
probably damaging |
Het |
Tlcd5 |
A |
T |
9: 43,022,859 (GRCm39) |
V165E |
probably damaging |
Het |
Tmem263 |
T |
A |
10: 84,950,274 (GRCm39) |
S22T |
probably benign |
Het |
Tnrc18 |
A |
T |
5: 142,773,049 (GRCm39) |
F410L |
unknown |
Het |
Ttc27 |
T |
G |
17: 75,087,906 (GRCm39) |
|
probably benign |
Het |
Vmn1r45 |
A |
T |
6: 89,910,668 (GRCm39) |
C101S |
probably damaging |
Het |
Wdr17 |
T |
C |
8: 55,112,738 (GRCm39) |
K781E |
probably damaging |
Het |
Xkr6 |
C |
T |
14: 64,056,653 (GRCm39) |
T188M |
probably benign |
Het |
|
Other mutations in Col1a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00839:Col1a2
|
APN |
6 |
4,531,095 (GRCm39) |
splice site |
probably benign |
|
IGL01126:Col1a2
|
APN |
6 |
4,535,846 (GRCm39) |
missense |
unknown |
|
IGL01129:Col1a2
|
APN |
6 |
4,535,846 (GRCm39) |
missense |
unknown |
|
IGL01286:Col1a2
|
APN |
6 |
4,533,891 (GRCm39) |
missense |
unknown |
|
IGL01687:Col1a2
|
APN |
6 |
4,520,258 (GRCm39) |
nonsense |
probably null |
|
IGL01866:Col1a2
|
APN |
6 |
4,524,132 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02100:Col1a2
|
APN |
6 |
4,524,177 (GRCm39) |
splice site |
probably benign |
|
IGL02140:Col1a2
|
APN |
6 |
4,515,639 (GRCm39) |
missense |
unknown |
|
IGL02474:Col1a2
|
APN |
6 |
4,516,398 (GRCm39) |
missense |
unknown |
|
IGL02510:Col1a2
|
APN |
6 |
4,516,398 (GRCm39) |
missense |
unknown |
|
IGL02525:Col1a2
|
APN |
6 |
4,531,355 (GRCm39) |
splice site |
probably benign |
|
IGL02839:Col1a2
|
APN |
6 |
4,538,748 (GRCm39) |
missense |
unknown |
|
IGL03134:Col1a2
|
APN |
6 |
4,521,387 (GRCm39) |
unclassified |
probably benign |
|
IGL03385:Col1a2
|
APN |
6 |
4,539,612 (GRCm39) |
missense |
unknown |
|
hollow
|
UTSW |
6 |
4,538,680 (GRCm39) |
missense |
unknown |
|
marrow
|
UTSW |
6 |
4,531,316 (GRCm39) |
missense |
unknown |
|
myelo
|
UTSW |
6 |
4,515,682 (GRCm39) |
missense |
unknown |
|
P4717OSA:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
PIT4453001:Col1a2
|
UTSW |
6 |
4,527,079 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0021:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0022:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0025:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0027:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0028:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0031:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0038:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0064:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0102:Col1a2
|
UTSW |
6 |
4,520,775 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0147:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0323:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0326:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0326:Col1a2
|
UTSW |
6 |
4,537,838 (GRCm39) |
missense |
unknown |
|
R0335:Col1a2
|
UTSW |
6 |
4,531,956 (GRCm39) |
splice site |
probably benign |
|
R0359:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0363:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0612:Col1a2
|
UTSW |
6 |
4,516,003 (GRCm39) |
missense |
unknown |
|
R0729:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0746:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0760:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0761:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0801:Col1a2
|
UTSW |
6 |
4,531,316 (GRCm39) |
missense |
unknown |
|
R0845:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0846:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0969:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0970:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R1105:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R1106:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R1107:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R1134:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R1135:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R1152:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R1333:Col1a2
|
UTSW |
6 |
4,515,684 (GRCm39) |
critical splice donor site |
probably null |
|
R1341:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R1470:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R1470:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R1477:Col1a2
|
UTSW |
6 |
4,539,673 (GRCm39) |
missense |
unknown |
|
R1566:Col1a2
|
UTSW |
6 |
4,523,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R1691:Col1a2
|
UTSW |
6 |
4,536,038 (GRCm39) |
missense |
unknown |
|
R1713:Col1a2
|
UTSW |
6 |
4,538,691 (GRCm39) |
missense |
unknown |
|
R1754:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R1755:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2050:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2178:Col1a2
|
UTSW |
6 |
4,531,143 (GRCm39) |
missense |
unknown |
|
R2194:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2195:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2235:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2261:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2262:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2263:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2289:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2310:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2312:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2330:Col1a2
|
UTSW |
6 |
4,528,300 (GRCm39) |
splice site |
probably benign |
|
R2333:Col1a2
|
UTSW |
6 |
4,532,747 (GRCm39) |
missense |
unknown |
|
R2401:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2403:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2448:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2513:Col1a2
|
UTSW |
6 |
4,531,223 (GRCm39) |
splice site |
probably null |
|
R2862:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2884:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2885:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2913:Col1a2
|
UTSW |
6 |
4,519,923 (GRCm39) |
unclassified |
probably benign |
|
R2937:Col1a2
|
UTSW |
6 |
4,520,788 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2937:Col1a2
|
UTSW |
6 |
4,519,882 (GRCm39) |
unclassified |
probably benign |
|
R2938:Col1a2
|
UTSW |
6 |
4,520,788 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3608:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R3692:Col1a2
|
UTSW |
6 |
4,510,710 (GRCm39) |
missense |
possibly damaging |
0.84 |
R3805:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R3806:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R3826:Col1a2
|
UTSW |
6 |
4,516,960 (GRCm39) |
unclassified |
probably benign |
|
R3903:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R3904:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R3922:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R3926:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R4106:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R4107:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R4108:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R4109:Col1a2
|
UTSW |
6 |
4,510,705 (GRCm39) |
nonsense |
probably null |
|
R4509:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R4667:Col1a2
|
UTSW |
6 |
4,512,412 (GRCm39) |
missense |
unknown |
|
R4909:Col1a2
|
UTSW |
6 |
4,529,058 (GRCm39) |
splice site |
probably benign |
|
R5418:Col1a2
|
UTSW |
6 |
4,516,931 (GRCm39) |
unclassified |
probably benign |
|
R5587:Col1a2
|
UTSW |
6 |
4,540,531 (GRCm39) |
missense |
unknown |
|
R5598:Col1a2
|
UTSW |
6 |
4,516,916 (GRCm39) |
unclassified |
probably benign |
|
R5673:Col1a2
|
UTSW |
6 |
4,539,622 (GRCm39) |
missense |
unknown |
|
R5678:Col1a2
|
UTSW |
6 |
4,536,239 (GRCm39) |
missense |
unknown |
|
R5763:Col1a2
|
UTSW |
6 |
4,515,682 (GRCm39) |
missense |
unknown |
|
R5786:Col1a2
|
UTSW |
6 |
4,530,223 (GRCm39) |
missense |
unknown |
|
R5872:Col1a2
|
UTSW |
6 |
4,531,926 (GRCm39) |
missense |
unknown |
|
R6084:Col1a2
|
UTSW |
6 |
4,505,840 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
R6134:Col1a2
|
UTSW |
6 |
4,538,035 (GRCm39) |
missense |
unknown |
|
R6221:Col1a2
|
UTSW |
6 |
4,539,490 (GRCm39) |
missense |
unknown |
|
R6481:Col1a2
|
UTSW |
6 |
4,538,680 (GRCm39) |
missense |
unknown |
|
R6500:Col1a2
|
UTSW |
6 |
4,515,517 (GRCm39) |
missense |
unknown |
|
R6890:Col1a2
|
UTSW |
6 |
4,539,587 (GRCm39) |
missense |
unknown |
|
R7022:Col1a2
|
UTSW |
6 |
4,534,639 (GRCm39) |
missense |
unknown |
|
R7033:Col1a2
|
UTSW |
6 |
4,516,904 (GRCm39) |
unclassified |
probably benign |
|
R7195:Col1a2
|
UTSW |
6 |
4,510,753 (GRCm39) |
missense |
unknown |
|
R7657:Col1a2
|
UTSW |
6 |
4,527,152 (GRCm39) |
missense |
probably null |
0.99 |
R7686:Col1a2
|
UTSW |
6 |
4,518,964 (GRCm39) |
missense |
unknown |
|
R7875:Col1a2
|
UTSW |
6 |
4,518,500 (GRCm39) |
missense |
unknown |
|
R8023:Col1a2
|
UTSW |
6 |
4,533,847 (GRCm39) |
missense |
unknown |
|
R8208:Col1a2
|
UTSW |
6 |
4,515,260 (GRCm39) |
splice site |
probably null |
|
R8277:Col1a2
|
UTSW |
6 |
4,516,410 (GRCm39) |
missense |
probably null |
|
R8438:Col1a2
|
UTSW |
6 |
4,515,518 (GRCm39) |
missense |
unknown |
|
R8438:Col1a2
|
UTSW |
6 |
4,515,517 (GRCm39) |
missense |
unknown |
|
R8993:Col1a2
|
UTSW |
6 |
4,535,451 (GRCm39) |
missense |
unknown |
|
R9109:Col1a2
|
UTSW |
6 |
4,515,260 (GRCm39) |
splice site |
probably null |
|
R9298:Col1a2
|
UTSW |
6 |
4,515,260 (GRCm39) |
splice site |
probably null |
|
R9315:Col1a2
|
UTSW |
6 |
4,540,544 (GRCm39) |
missense |
unknown |
|
R9490:Col1a2
|
UTSW |
6 |
4,505,901 (GRCm39) |
missense |
unknown |
|
V5622:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
V5622:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
X0017:Col1a2
|
UTSW |
6 |
4,515,675 (GRCm39) |
missense |
unknown |
|
Z1176:Col1a2
|
UTSW |
6 |
4,532,750 (GRCm39) |
missense |
unknown |
|
|