Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl4 |
A |
G |
3: 95,584,556 (GRCm39) |
S947P |
probably damaging |
Het |
Agl |
T |
A |
3: 116,574,672 (GRCm39) |
H709L |
probably damaging |
Het |
Alpi |
T |
A |
1: 87,027,830 (GRCm39) |
D250V |
probably benign |
Het |
Anapc4 |
A |
G |
5: 53,023,740 (GRCm39) |
S735G |
probably benign |
Het |
Ank1 |
A |
T |
8: 23,594,848 (GRCm39) |
I611L |
probably benign |
Het |
Canx |
A |
G |
11: 50,195,309 (GRCm39) |
V253A |
possibly damaging |
Het |
Cbfa2t3 |
A |
T |
8: 123,361,873 (GRCm39) |
I383N |
probably damaging |
Het |
Ccn3 |
C |
T |
15: 54,612,680 (GRCm39) |
R230C |
possibly damaging |
Het |
Cdc23 |
T |
C |
18: 34,767,513 (GRCm39) |
Y519C |
probably damaging |
Het |
Celsr3 |
T |
A |
9: 108,703,806 (GRCm39) |
N96K |
probably benign |
Het |
Clptm1 |
A |
G |
7: 19,371,072 (GRCm39) |
Y355H |
probably damaging |
Het |
Cyp21a1 |
G |
T |
17: 35,022,420 (GRCm39) |
|
probably null |
Het |
Cyp24a1 |
T |
G |
2: 170,327,886 (GRCm39) |
H452P |
probably damaging |
Het |
Cyp2c39 |
T |
A |
19: 39,552,295 (GRCm39) |
H329Q |
probably benign |
Het |
D630003M21Rik |
C |
T |
2: 158,058,664 (GRCm39) |
R412Q |
probably benign |
Het |
Dennd1b |
G |
A |
1: 139,029,767 (GRCm39) |
R308Q |
possibly damaging |
Het |
Deup1 |
T |
C |
9: 15,519,096 (GRCm39) |
S137G |
possibly damaging |
Het |
Dmbt1 |
T |
A |
7: 130,712,778 (GRCm39) |
I1583N |
probably damaging |
Het |
Dvl1 |
G |
A |
4: 155,939,609 (GRCm39) |
V320M |
probably damaging |
Het |
Elmod3 |
A |
G |
6: 72,546,299 (GRCm39) |
S254P |
probably damaging |
Het |
Emsy |
G |
A |
7: 98,286,473 (GRCm39) |
Q226* |
probably null |
Het |
Ephb6 |
C |
A |
6: 41,591,108 (GRCm39) |
D88E |
probably damaging |
Het |
Exoc1 |
A |
G |
5: 76,690,005 (GRCm39) |
M182V |
possibly damaging |
Het |
Fbxw4 |
T |
G |
19: 45,580,160 (GRCm39) |
|
probably benign |
Het |
Fgr |
A |
G |
4: 132,713,577 (GRCm39) |
D35G |
probably damaging |
Het |
Gm20547 |
A |
T |
17: 35,080,008 (GRCm39) |
D366E |
probably damaging |
Het |
Gucy1a1 |
T |
C |
3: 82,004,988 (GRCm39) |
N599S |
probably damaging |
Het |
Ighg2b |
G |
A |
12: 113,270,298 (GRCm39) |
P240L |
probably damaging |
Het |
Jak3 |
A |
G |
8: 72,138,727 (GRCm39) |
D975G |
probably benign |
Het |
Klhl26 |
A |
T |
8: 70,908,283 (GRCm39) |
N24K |
probably benign |
Het |
Letm1 |
T |
A |
5: 33,918,202 (GRCm39) |
E314D |
probably damaging |
Het |
Lin54 |
A |
T |
5: 100,598,852 (GRCm39) |
F319L |
probably damaging |
Het |
Lrp5 |
A |
T |
19: 3,670,314 (GRCm39) |
|
probably null |
Het |
Lvrn |
T |
C |
18: 47,013,776 (GRCm39) |
F486S |
probably damaging |
Het |
Or1e19 |
T |
C |
11: 73,316,009 (GRCm39) |
T267A |
probably benign |
Het |
Or2h1b |
A |
G |
17: 37,462,534 (GRCm39) |
C110R |
probably damaging |
Het |
Or4c113 |
T |
C |
2: 88,885,357 (GRCm39) |
R138G |
probably benign |
Het |
Or51m1 |
A |
C |
7: 103,578,329 (GRCm39) |
I100L |
probably benign |
Het |
Or8g54 |
A |
T |
9: 39,706,977 (GRCm39) |
Y102F |
probably benign |
Het |
Pramel24 |
A |
G |
4: 143,452,703 (GRCm39) |
T45A |
probably benign |
Het |
Sap30bp |
T |
A |
11: 115,848,214 (GRCm39) |
M112K |
possibly damaging |
Het |
Sbno1 |
A |
G |
5: 124,525,374 (GRCm39) |
|
probably benign |
Het |
Slc30a5 |
T |
C |
13: 100,950,338 (GRCm39) |
I307V |
probably benign |
Het |
Trim37 |
T |
A |
11: 87,080,963 (GRCm39) |
D21E |
probably damaging |
Het |
Usp34 |
T |
C |
11: 23,396,958 (GRCm39) |
F614S |
possibly damaging |
Het |
Usp39 |
A |
C |
6: 72,305,622 (GRCm39) |
F387C |
probably damaging |
Het |
Vipas39 |
C |
T |
12: 87,300,028 (GRCm39) |
C149Y |
probably damaging |
Het |
Vmn2r107 |
C |
A |
17: 20,595,974 (GRCm39) |
H842Q |
probably benign |
Het |
Vps18 |
T |
A |
2: 119,123,658 (GRCm39) |
V195E |
probably benign |
Het |
Vsx1 |
A |
G |
2: 150,527,510 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Col6a5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00232:Col6a5
|
APN |
9 |
105,759,882 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01462:Col6a5
|
APN |
9 |
105,823,274 (GRCm39) |
missense |
unknown |
|
IGL01530:Col6a5
|
APN |
9 |
105,792,385 (GRCm39) |
splice site |
probably benign |
|
IGL01717:Col6a5
|
APN |
9 |
105,817,472 (GRCm39) |
missense |
unknown |
|
IGL01859:Col6a5
|
APN |
9 |
105,808,160 (GRCm39) |
nonsense |
probably null |
|
IGL01945:Col6a5
|
APN |
9 |
105,805,489 (GRCm39) |
missense |
unknown |
|
IGL01985:Col6a5
|
APN |
9 |
105,814,482 (GRCm39) |
missense |
unknown |
|
IGL02128:Col6a5
|
APN |
9 |
105,817,093 (GRCm39) |
missense |
unknown |
|
IGL02170:Col6a5
|
APN |
9 |
105,805,621 (GRCm39) |
missense |
unknown |
|
IGL02224:Col6a5
|
APN |
9 |
105,741,534 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02246:Col6a5
|
APN |
9 |
105,788,306 (GRCm39) |
nonsense |
probably null |
|
IGL02304:Col6a5
|
APN |
9 |
105,805,613 (GRCm39) |
missense |
unknown |
|
IGL02338:Col6a5
|
APN |
9 |
105,755,829 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02375:Col6a5
|
APN |
9 |
105,783,312 (GRCm39) |
missense |
unknown |
|
IGL02660:Col6a5
|
APN |
9 |
105,814,085 (GRCm39) |
missense |
unknown |
|
IGL02829:Col6a5
|
APN |
9 |
105,811,506 (GRCm39) |
missense |
unknown |
|
IGL02882:Col6a5
|
APN |
9 |
105,811,520 (GRCm39) |
missense |
unknown |
|
IGL02973:Col6a5
|
APN |
9 |
105,803,020 (GRCm39) |
missense |
unknown |
|
IGL03100:Col6a5
|
APN |
9 |
105,814,512 (GRCm39) |
missense |
unknown |
|
IGL03257:Col6a5
|
APN |
9 |
105,759,072 (GRCm39) |
missense |
possibly damaging |
0.95 |
FR4340:Col6a5
|
UTSW |
9 |
105,811,373 (GRCm39) |
missense |
unknown |
|
FR4342:Col6a5
|
UTSW |
9 |
105,811,373 (GRCm39) |
missense |
unknown |
|
FR4589:Col6a5
|
UTSW |
9 |
105,811,373 (GRCm39) |
missense |
unknown |
|
PIT4131001:Col6a5
|
UTSW |
9 |
105,759,113 (GRCm39) |
missense |
probably damaging |
0.98 |
R0147:Col6a5
|
UTSW |
9 |
105,802,993 (GRCm39) |
missense |
unknown |
|
R0549:Col6a5
|
UTSW |
9 |
105,781,778 (GRCm39) |
splice site |
probably benign |
|
R0622:Col6a5
|
UTSW |
9 |
105,803,051 (GRCm39) |
missense |
unknown |
|
R0628:Col6a5
|
UTSW |
9 |
105,789,649 (GRCm39) |
splice site |
probably null |
|
R0635:Col6a5
|
UTSW |
9 |
105,805,805 (GRCm39) |
missense |
unknown |
|
R0644:Col6a5
|
UTSW |
9 |
105,825,523 (GRCm39) |
critical splice donor site |
probably null |
|
R0828:Col6a5
|
UTSW |
9 |
105,739,263 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0972:Col6a5
|
UTSW |
9 |
105,817,484 (GRCm39) |
missense |
unknown |
|
R1065:Col6a5
|
UTSW |
9 |
105,758,982 (GRCm39) |
missense |
probably damaging |
0.99 |
R1142:Col6a5
|
UTSW |
9 |
105,811,516 (GRCm39) |
missense |
unknown |
|
R1169:Col6a5
|
UTSW |
9 |
105,774,173 (GRCm39) |
splice site |
probably null |
|
R1522:Col6a5
|
UTSW |
9 |
105,817,193 (GRCm39) |
missense |
unknown |
|
R1646:Col6a5
|
UTSW |
9 |
105,739,948 (GRCm39) |
nonsense |
probably null |
|
R1719:Col6a5
|
UTSW |
9 |
105,808,492 (GRCm39) |
missense |
unknown |
|
R1759:Col6a5
|
UTSW |
9 |
105,808,045 (GRCm39) |
missense |
unknown |
|
R1780:Col6a5
|
UTSW |
9 |
105,814,077 (GRCm39) |
missense |
unknown |
|
R1812:Col6a5
|
UTSW |
9 |
105,805,253 (GRCm39) |
missense |
unknown |
|
R1838:Col6a5
|
UTSW |
9 |
105,742,032 (GRCm39) |
missense |
probably benign |
0.28 |
R1839:Col6a5
|
UTSW |
9 |
105,742,032 (GRCm39) |
missense |
probably benign |
0.28 |
R1863:Col6a5
|
UTSW |
9 |
105,817,400 (GRCm39) |
missense |
unknown |
|
R1900:Col6a5
|
UTSW |
9 |
105,808,412 (GRCm39) |
missense |
unknown |
|
R1951:Col6a5
|
UTSW |
9 |
105,814,156 (GRCm39) |
missense |
unknown |
|
R2024:Col6a5
|
UTSW |
9 |
105,814,193 (GRCm39) |
missense |
unknown |
|
R2126:Col6a5
|
UTSW |
9 |
105,822,799 (GRCm39) |
missense |
unknown |
|
R2319:Col6a5
|
UTSW |
9 |
105,814,417 (GRCm39) |
missense |
unknown |
|
R2344:Col6a5
|
UTSW |
9 |
105,805,736 (GRCm39) |
missense |
unknown |
|
R2483:Col6a5
|
UTSW |
9 |
105,741,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R3176:Col6a5
|
UTSW |
9 |
105,788,306 (GRCm39) |
nonsense |
probably null |
|
R3276:Col6a5
|
UTSW |
9 |
105,788,306 (GRCm39) |
nonsense |
probably null |
|
R3438:Col6a5
|
UTSW |
9 |
105,752,991 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3791:Col6a5
|
UTSW |
9 |
105,741,868 (GRCm39) |
missense |
probably damaging |
0.99 |
R3840:Col6a5
|
UTSW |
9 |
105,805,810 (GRCm39) |
missense |
unknown |
|
R3886:Col6a5
|
UTSW |
9 |
105,808,129 (GRCm39) |
missense |
unknown |
|
R3941:Col6a5
|
UTSW |
9 |
105,817,033 (GRCm39) |
missense |
unknown |
|
R4194:Col6a5
|
UTSW |
9 |
105,823,113 (GRCm39) |
missense |
unknown |
|
R4399:Col6a5
|
UTSW |
9 |
105,766,164 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4421:Col6a5
|
UTSW |
9 |
105,805,672 (GRCm39) |
missense |
unknown |
|
R4450:Col6a5
|
UTSW |
9 |
105,781,720 (GRCm39) |
missense |
unknown |
|
R4491:Col6a5
|
UTSW |
9 |
105,817,211 (GRCm39) |
missense |
unknown |
|
R4582:Col6a5
|
UTSW |
9 |
105,739,963 (GRCm39) |
missense |
probably benign |
0.17 |
R4693:Col6a5
|
UTSW |
9 |
105,814,371 (GRCm39) |
missense |
unknown |
|
R4787:Col6a5
|
UTSW |
9 |
105,808,280 (GRCm39) |
missense |
unknown |
|
R4789:Col6a5
|
UTSW |
9 |
105,814,534 (GRCm39) |
missense |
unknown |
|
R4791:Col6a5
|
UTSW |
9 |
105,807,983 (GRCm39) |
missense |
unknown |
|
R4792:Col6a5
|
UTSW |
9 |
105,807,983 (GRCm39) |
missense |
unknown |
|
R4817:Col6a5
|
UTSW |
9 |
105,811,497 (GRCm39) |
missense |
unknown |
|
R4854:Col6a5
|
UTSW |
9 |
105,775,950 (GRCm39) |
missense |
probably benign |
0.18 |
R4927:Col6a5
|
UTSW |
9 |
105,811,163 (GRCm39) |
missense |
unknown |
|
R4969:Col6a5
|
UTSW |
9 |
105,741,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R5037:Col6a5
|
UTSW |
9 |
105,805,337 (GRCm39) |
missense |
unknown |
|
R5118:Col6a5
|
UTSW |
9 |
105,814,204 (GRCm39) |
missense |
unknown |
|
R5144:Col6a5
|
UTSW |
9 |
105,766,482 (GRCm39) |
missense |
probably damaging |
1.00 |
R5145:Col6a5
|
UTSW |
9 |
105,811,444 (GRCm39) |
missense |
unknown |
|
R5160:Col6a5
|
UTSW |
9 |
105,808,208 (GRCm39) |
missense |
unknown |
|
R5182:Col6a5
|
UTSW |
9 |
105,734,531 (GRCm39) |
nonsense |
probably null |
|
R5234:Col6a5
|
UTSW |
9 |
105,741,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R5252:Col6a5
|
UTSW |
9 |
105,817,489 (GRCm39) |
missense |
unknown |
|
R5290:Col6a5
|
UTSW |
9 |
105,823,282 (GRCm39) |
missense |
unknown |
|
R5313:Col6a5
|
UTSW |
9 |
105,822,743 (GRCm39) |
missense |
unknown |
|
R5321:Col6a5
|
UTSW |
9 |
105,805,664 (GRCm39) |
missense |
unknown |
|
R5466:Col6a5
|
UTSW |
9 |
105,808,282 (GRCm39) |
missense |
unknown |
|
R5540:Col6a5
|
UTSW |
9 |
105,739,975 (GRCm39) |
missense |
probably benign |
0.44 |
R5669:Col6a5
|
UTSW |
9 |
105,803,197 (GRCm39) |
missense |
unknown |
|
R5789:Col6a5
|
UTSW |
9 |
105,741,807 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5801:Col6a5
|
UTSW |
9 |
105,825,566 (GRCm39) |
missense |
unknown |
|
R5827:Col6a5
|
UTSW |
9 |
105,805,319 (GRCm39) |
nonsense |
probably null |
|
R5839:Col6a5
|
UTSW |
9 |
105,822,592 (GRCm39) |
critical splice donor site |
probably null |
|
R5908:Col6a5
|
UTSW |
9 |
105,740,000 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5970:Col6a5
|
UTSW |
9 |
105,823,046 (GRCm39) |
missense |
unknown |
|
R6045:Col6a5
|
UTSW |
9 |
105,803,117 (GRCm39) |
missense |
unknown |
|
R6107:Col6a5
|
UTSW |
9 |
105,769,471 (GRCm39) |
nonsense |
probably null |
|
R6168:Col6a5
|
UTSW |
9 |
105,752,986 (GRCm39) |
critical splice donor site |
probably null |
|
R6315:Col6a5
|
UTSW |
9 |
105,759,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R6317:Col6a5
|
UTSW |
9 |
105,766,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R6414:Col6a5
|
UTSW |
9 |
105,769,465 (GRCm39) |
splice site |
probably null |
|
R6434:Col6a5
|
UTSW |
9 |
105,814,544 (GRCm39) |
missense |
unknown |
|
R6456:Col6a5
|
UTSW |
9 |
105,822,676 (GRCm39) |
missense |
unknown |
|
R6698:Col6a5
|
UTSW |
9 |
105,811,374 (GRCm39) |
missense |
unknown |
|
R6876:Col6a5
|
UTSW |
9 |
105,814,506 (GRCm39) |
missense |
unknown |
|
R6882:Col6a5
|
UTSW |
9 |
105,817,469 (GRCm39) |
nonsense |
probably null |
|
R6928:Col6a5
|
UTSW |
9 |
105,817,118 (GRCm39) |
missense |
unknown |
|
R7024:Col6a5
|
UTSW |
9 |
105,789,674 (GRCm39) |
nonsense |
probably null |
|
R7038:Col6a5
|
UTSW |
9 |
105,822,937 (GRCm39) |
missense |
unknown |
|
R7082:Col6a5
|
UTSW |
9 |
105,808,438 (GRCm39) |
missense |
unknown |
|
R7158:Col6a5
|
UTSW |
9 |
105,741,407 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7211:Col6a5
|
UTSW |
9 |
105,805,363 (GRCm39) |
missense |
unknown |
|
R7431:Col6a5
|
UTSW |
9 |
105,805,468 (GRCm39) |
missense |
unknown |
|
R7440:Col6a5
|
UTSW |
9 |
105,758,630 (GRCm39) |
nonsense |
probably null |
|
R7502:Col6a5
|
UTSW |
9 |
105,753,075 (GRCm39) |
missense |
probably benign |
0.05 |
R7577:Col6a5
|
UTSW |
9 |
105,741,887 (GRCm39) |
nonsense |
probably null |
|
R7582:Col6a5
|
UTSW |
9 |
105,822,625 (GRCm39) |
missense |
unknown |
|
R7641:Col6a5
|
UTSW |
9 |
105,758,625 (GRCm39) |
nonsense |
probably null |
|
R7762:Col6a5
|
UTSW |
9 |
105,808,523 (GRCm39) |
missense |
unknown |
|
R7793:Col6a5
|
UTSW |
9 |
105,775,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R7821:Col6a5
|
UTSW |
9 |
105,741,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R7848:Col6a5
|
UTSW |
9 |
105,805,385 (GRCm39) |
missense |
unknown |
|
R7897:Col6a5
|
UTSW |
9 |
105,766,382 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7904:Col6a5
|
UTSW |
9 |
105,805,720 (GRCm39) |
missense |
unknown |
|
R7960:Col6a5
|
UTSW |
9 |
105,823,049 (GRCm39) |
missense |
unknown |
|
R8015:Col6a5
|
UTSW |
9 |
105,758,940 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8100:Col6a5
|
UTSW |
9 |
105,755,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R8131:Col6a5
|
UTSW |
9 |
105,778,815 (GRCm39) |
missense |
unknown |
|
R8418:Col6a5
|
UTSW |
9 |
105,755,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R8425:Col6a5
|
UTSW |
9 |
105,823,156 (GRCm39) |
missense |
unknown |
|
R8678:Col6a5
|
UTSW |
9 |
105,811,551 (GRCm39) |
missense |
unknown |
|
R8690:Col6a5
|
UTSW |
9 |
105,759,796 (GRCm39) |
missense |
probably damaging |
0.97 |
R8847:Col6a5
|
UTSW |
9 |
105,741,472 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8946:Col6a5
|
UTSW |
9 |
105,822,833 (GRCm39) |
missense |
unknown |
|
R8947:Col6a5
|
UTSW |
9 |
105,822,833 (GRCm39) |
missense |
unknown |
|
R8949:Col6a5
|
UTSW |
9 |
105,822,833 (GRCm39) |
missense |
unknown |
|
R8950:Col6a5
|
UTSW |
9 |
105,822,833 (GRCm39) |
missense |
unknown |
|
R9089:Col6a5
|
UTSW |
9 |
105,766,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R9118:Col6a5
|
UTSW |
9 |
105,755,853 (GRCm39) |
splice site |
probably benign |
|
R9169:Col6a5
|
UTSW |
9 |
105,822,596 (GRCm39) |
missense |
unknown |
|
R9177:Col6a5
|
UTSW |
9 |
105,808,152 (GRCm39) |
missense |
unknown |
|
R9180:Col6a5
|
UTSW |
9 |
105,739,178 (GRCm39) |
missense |
probably damaging |
0.99 |
R9205:Col6a5
|
UTSW |
9 |
105,755,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R9214:Col6a5
|
UTSW |
9 |
105,758,940 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9224:Col6a5
|
UTSW |
9 |
105,814,594 (GRCm39) |
missense |
unknown |
|
R9279:Col6a5
|
UTSW |
9 |
105,758,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R9383:Col6a5
|
UTSW |
9 |
105,803,110 (GRCm39) |
missense |
unknown |
|
R9427:Col6a5
|
UTSW |
9 |
105,816,992 (GRCm39) |
missense |
unknown |
|
R9488:Col6a5
|
UTSW |
9 |
105,741,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R9494:Col6a5
|
UTSW |
9 |
105,822,732 (GRCm39) |
missense |
unknown |
|
R9659:Col6a5
|
UTSW |
9 |
105,811,034 (GRCm39) |
missense |
unknown |
|
R9749:Col6a5
|
UTSW |
9 |
105,739,190 (GRCm39) |
missense |
probably damaging |
0.98 |
RF013:Col6a5
|
UTSW |
9 |
105,755,796 (GRCm39) |
frame shift |
probably null |
|
X0054:Col6a5
|
UTSW |
9 |
105,792,357 (GRCm39) |
missense |
unknown |
|
X0058:Col6a5
|
UTSW |
9 |
105,758,977 (GRCm39) |
nonsense |
probably null |
|
Z1088:Col6a5
|
UTSW |
9 |
105,803,266 (GRCm39) |
missense |
unknown |
|
Z1177:Col6a5
|
UTSW |
9 |
105,807,984 (GRCm39) |
missense |
unknown |
|
|