Incidental Mutation 'R9037:Vwa7'
| ID |
687498 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa7
|
| Ensembl Gene |
ENSMUSG00000007030 |
| Gene Name |
von Willebrand factor A domain containing 7 |
| Synonyms |
G7c, D17H6S56E-3 |
| MMRRC Submission |
068969-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R9037 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35235555-35245717 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35236268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 74
(V74A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007245]
[ENSMUST00000087315]
[ENSMUST00000172499]
[ENSMUST00000173584]
|
| AlphaFold |
Q9JHA8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007245
AA Change: V74A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000007245
Gene: ENSMUSG00000007030
AA Change: V74A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
VWA
|
314 |
499 |
2.59e0 |
SMART |
|
low complexity region
|
683 |
701 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
861 |
N/A |
INTRINSIC |
|
low complexity region
|
864 |
877 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087315
|
| SMART Domains |
Protein: ENSMUSP00000084572
Gene: ENSMUSG00000007029
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
2 |
81 |
5.7e-16 |
PFAM |
|
Pfam:GST_C
|
107 |
198 |
7.3e-13 |
PFAM |
|
low complexity region
|
234 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
271 |
N/A |
INTRINSIC |
|
Pfam:tRNA-synt_1
|
307 |
938 |
2e-197 |
PFAM |
|
Pfam:tRNA-synt_1g
|
336 |
496 |
6e-6 |
PFAM |
|
Pfam:tRNA-synt_1_2
|
555 |
623 |
1.9e-11 |
PFAM |
|
Pfam:Anticodon_1
|
983 |
1138 |
2.6e-34 |
PFAM |
|
low complexity region
|
1153 |
1174 |
N/A |
INTRINSIC |
|
low complexity region
|
1207 |
1225 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172499
AA Change: V74A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000133418
Gene: ENSMUSG00000007030
AA Change: V74A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
VWA
|
314 |
478 |
7.28e0 |
SMART |
|
low complexity region
|
662 |
680 |
N/A |
INTRINSIC |
|
low complexity region
|
819 |
840 |
N/A |
INTRINSIC |
|
low complexity region
|
843 |
856 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173142
|
| SMART Domains |
Protein: ENSMUSP00000134669
Gene: ENSMUSG00000007029
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gaxa3
|
32 |
67 |
3e-7 |
SMART |
|
PDB:1IYW|B
|
36 |
122 |
4e-6 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173584
|
| SMART Domains |
Protein: ENSMUSP00000133994
Gene: ENSMUSG00000007029
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
89 |
N/A |
INTRINSIC |
|
Pfam:GST_C
|
96 |
198 |
7.8e-14 |
PFAM |
|
low complexity region
|
234 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
271 |
N/A |
INTRINSIC |
|
Pfam:tRNA-synt_1
|
307 |
938 |
1.9e-200 |
PFAM |
|
Pfam:tRNA-synt_1g
|
336 |
493 |
2.1e-7 |
PFAM |
|
Pfam:tRNA-synt_1_2
|
555 |
623 |
1.1e-12 |
PFAM |
|
Pfam:Anticodon_1
|
983 |
1138 |
7.2e-36 |
PFAM |
|
low complexity region
|
1153 |
1174 |
N/A |
INTRINSIC |
|
coiled coil region
|
1197 |
1225 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
T |
A |
18: 61,952,066 (GRCm39) |
I432F |
probably benign |
Het |
| Aco2 |
C |
G |
15: 81,756,620 (GRCm39) |
|
probably benign |
Het |
| Adcy1 |
A |
G |
11: 7,087,325 (GRCm39) |
T400A |
possibly damaging |
Het |
| Afap1l2 |
A |
T |
19: 56,918,403 (GRCm39) |
|
probably benign |
Het |
| Anapc4 |
C |
A |
5: 53,021,843 (GRCm39) |
Q642K |
probably benign |
Het |
| Ano8 |
A |
G |
8: 71,937,088 (GRCm39) |
F160S |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,066,501 (GRCm39) |
V4490A |
probably benign |
Het |
| Bcar1 |
A |
C |
8: 112,447,522 (GRCm39) |
F152V |
probably benign |
Het |
| Cacna2d2 |
A |
G |
9: 107,386,395 (GRCm39) |
D174G |
probably benign |
Het |
| Capn11 |
T |
C |
17: 45,950,357 (GRCm39) |
K328R |
probably benign |
Het |
| Colq |
C |
A |
14: 31,279,744 (GRCm39) |
|
probably benign |
Het |
| Coro1a |
A |
C |
7: 126,299,772 (GRCm39) |
M350R |
probably benign |
Het |
| Ctbp1 |
T |
A |
5: 33,424,352 (GRCm39) |
M24L |
probably benign |
Het |
| Cyp2c55 |
T |
A |
19: 39,030,537 (GRCm39) |
F456L |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,248,104 (GRCm39) |
K747M |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,803,791 (GRCm39) |
D3048G |
unknown |
Het |
| Esp36 |
C |
T |
17: 38,729,840 (GRCm39) |
G60D |
unknown |
Het |
| Gast |
A |
G |
11: 100,227,436 (GRCm39) |
E43G |
probably damaging |
Het |
| Gm5849 |
T |
G |
3: 90,685,155 (GRCm39) |
N10T |
probably benign |
Het |
| Gulp1 |
T |
C |
1: 44,793,524 (GRCm39) |
S62P |
probably benign |
Het |
| Hectd1 |
T |
C |
12: 51,832,665 (GRCm39) |
D903G |
possibly damaging |
Het |
| Hk2 |
T |
A |
6: 82,720,339 (GRCm39) |
I201F |
probably benign |
Het |
| Ifna2 |
T |
C |
4: 88,601,664 (GRCm39) |
D118G |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,420,400 (GRCm39) |
K1079E |
possibly damaging |
Het |
| Igsf9 |
T |
C |
1: 172,312,081 (GRCm39) |
V9A |
probably benign |
Het |
| Ints2 |
G |
A |
11: 86,106,530 (GRCm39) |
T960I |
probably benign |
Het |
| Klk12 |
T |
C |
7: 43,419,139 (GRCm39) |
W35R |
probably damaging |
Het |
| Ly6c1 |
C |
A |
15: 74,917,300 (GRCm39) |
G116V |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,365,518 (GRCm39) |
N3081S |
probably benign |
Het |
| Mal2 |
A |
G |
15: 54,434,939 (GRCm39) |
N12S |
unknown |
Het |
| Mgat1 |
T |
G |
11: 49,152,256 (GRCm39) |
N246K |
probably damaging |
Het |
| Mpeg1 |
T |
A |
19: 12,439,190 (GRCm39) |
V216E |
probably damaging |
Het |
| Mpo |
A |
G |
11: 87,688,557 (GRCm39) |
|
probably benign |
Het |
| Mtmr9 |
T |
A |
14: 63,761,532 (GRCm39) |
T541S |
possibly damaging |
Het |
| Or4a73 |
C |
T |
2: 89,421,051 (GRCm39) |
R136Q |
probably benign |
Het |
| Or51b6b |
T |
A |
7: 103,310,382 (GRCm39) |
H25L |
probably benign |
Het |
| Or5ak25 |
T |
C |
2: 85,269,139 (GRCm39) |
D121G |
possibly damaging |
Het |
| Or8k3 |
G |
T |
2: 86,059,042 (GRCm39) |
T91K |
probably benign |
Het |
| P2rx6 |
A |
G |
16: 17,388,307 (GRCm39) |
T328A |
possibly damaging |
Het |
| Pcdhb12 |
A |
C |
18: 37,569,229 (GRCm39) |
E125A |
probably benign |
Het |
| Pde3a |
C |
A |
6: 141,416,832 (GRCm39) |
Q569K |
probably damaging |
Het |
| Pepd |
A |
T |
7: 34,720,398 (GRCm39) |
Q227L |
probably benign |
Het |
| Piezo2 |
T |
A |
18: 63,225,902 (GRCm39) |
E911D |
probably benign |
Het |
| Pnpla6 |
A |
T |
8: 3,592,379 (GRCm39) |
R1241* |
probably null |
Het |
| Pold1 |
T |
C |
7: 44,188,339 (GRCm39) |
D513G |
probably damaging |
Het |
| Polr1d |
A |
T |
5: 147,015,490 (GRCm39) |
I58L |
probably benign |
Het |
| Ppif |
T |
C |
14: 25,694,828 (GRCm39) |
L58P |
probably damaging |
Het |
| Preb |
T |
C |
5: 31,116,590 (GRCm39) |
K101R |
probably benign |
Het |
| Psma8 |
G |
T |
18: 14,854,251 (GRCm39) |
V44L |
probably benign |
Het |
| Ptf1a |
A |
G |
2: 19,451,036 (GRCm39) |
Y122C |
possibly damaging |
Het |
| Ranbp6 |
T |
C |
19: 29,790,317 (GRCm39) |
T12A |
probably benign |
Het |
| Rasal3 |
C |
A |
17: 32,614,094 (GRCm39) |
R587L |
probably benign |
Het |
| Rnf146 |
T |
C |
10: 29,223,676 (GRCm39) |
K70R |
probably benign |
Het |
| Serpinb6b |
G |
T |
13: 33,161,998 (GRCm39) |
E266* |
probably null |
Het |
| Slc15a2 |
A |
T |
16: 36,582,725 (GRCm39) |
M252K |
probably benign |
Het |
| Slc2a1 |
T |
C |
4: 118,993,494 (GRCm39) |
F444L |
probably damaging |
Het |
| Sox9 |
A |
G |
11: 112,675,650 (GRCm39) |
S280G |
probably damaging |
Het |
| Spata31e4 |
A |
G |
13: 50,856,944 (GRCm39) |
K861E |
probably benign |
Het |
| Trappc8 |
A |
G |
18: 20,961,539 (GRCm39) |
V1243A |
probably benign |
Het |
| Trpv2 |
A |
T |
11: 62,475,231 (GRCm39) |
T215S |
probably damaging |
Het |
| Ttc39a |
A |
G |
4: 109,299,981 (GRCm39) |
E490G |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 187,995,487 (GRCm39) |
D86V |
possibly damaging |
Het |
| Usp24 |
A |
G |
4: 106,236,251 (GRCm39) |
T980A |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,452,578 (GRCm39) |
V1501A |
unknown |
Het |
| Zfp105 |
A |
G |
9: 122,758,836 (GRCm39) |
E169G |
possibly damaging |
Het |
| Zfp788 |
C |
T |
7: 41,298,315 (GRCm39) |
T317I |
probably damaging |
Het |
|
| Other mutations in Vwa7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01103:Vwa7
|
APN |
17 |
35,243,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01736:Vwa7
|
APN |
17 |
35,238,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01868:Vwa7
|
APN |
17 |
35,240,235 (GRCm39) |
missense |
probably null |
0.96 |
|
IGL01920:Vwa7
|
APN |
17 |
35,243,579 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02227:Vwa7
|
APN |
17 |
35,239,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02947:Vwa7
|
APN |
17 |
35,242,476 (GRCm39) |
splice site |
probably null |
|
|
IGL03259:Vwa7
|
APN |
17 |
35,239,002 (GRCm39) |
splice site |
probably null |
|
|
IGL03263:Vwa7
|
APN |
17 |
35,240,575 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0008:Vwa7
|
UTSW |
17 |
35,238,781 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0057:Vwa7
|
UTSW |
17 |
35,243,523 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0057:Vwa7
|
UTSW |
17 |
35,243,523 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0418:Vwa7
|
UTSW |
17 |
35,236,933 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0538:Vwa7
|
UTSW |
17 |
35,241,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1121:Vwa7
|
UTSW |
17 |
35,236,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1659:Vwa7
|
UTSW |
17 |
35,238,047 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1766:Vwa7
|
UTSW |
17 |
35,242,919 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1777:Vwa7
|
UTSW |
17 |
35,243,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Vwa7
|
UTSW |
17 |
35,243,388 (GRCm39) |
nonsense |
probably null |
|
|
R1874:Vwa7
|
UTSW |
17 |
35,236,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2139:Vwa7
|
UTSW |
17 |
35,242,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2248:Vwa7
|
UTSW |
17 |
35,238,019 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2290:Vwa7
|
UTSW |
17 |
35,236,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Vwa7
|
UTSW |
17 |
35,240,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Vwa7
|
UTSW |
17 |
35,240,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Vwa7
|
UTSW |
17 |
35,240,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Vwa7
|
UTSW |
17 |
35,240,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Vwa7
|
UTSW |
17 |
35,240,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Vwa7
|
UTSW |
17 |
35,240,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2873:Vwa7
|
UTSW |
17 |
35,240,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2874:Vwa7
|
UTSW |
17 |
35,240,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3038:Vwa7
|
UTSW |
17 |
35,241,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3792:Vwa7
|
UTSW |
17 |
35,244,135 (GRCm39) |
splice site |
probably null |
|
|
R3970:Vwa7
|
UTSW |
17 |
35,236,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Vwa7
|
UTSW |
17 |
35,242,426 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5013:Vwa7
|
UTSW |
17 |
35,241,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Vwa7
|
UTSW |
17 |
35,243,166 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5069:Vwa7
|
UTSW |
17 |
35,243,166 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5070:Vwa7
|
UTSW |
17 |
35,243,166 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5137:Vwa7
|
UTSW |
17 |
35,236,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Vwa7
|
UTSW |
17 |
35,243,902 (GRCm39) |
splice site |
probably null |
|
|
R6170:Vwa7
|
UTSW |
17 |
35,240,186 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6229:Vwa7
|
UTSW |
17 |
35,243,241 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6249:Vwa7
|
UTSW |
17 |
35,242,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6401:Vwa7
|
UTSW |
17 |
35,236,286 (GRCm39) |
splice site |
probably null |
|
|
R6429:Vwa7
|
UTSW |
17 |
35,243,175 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6678:Vwa7
|
UTSW |
17 |
35,238,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6793:Vwa7
|
UTSW |
17 |
35,243,867 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6966:Vwa7
|
UTSW |
17 |
35,236,072 (GRCm39) |
missense |
probably benign |
|
|
R7492:Vwa7
|
UTSW |
17 |
35,238,020 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7903:Vwa7
|
UTSW |
17 |
35,236,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7922:Vwa7
|
UTSW |
17 |
35,243,409 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8191:Vwa7
|
UTSW |
17 |
35,238,712 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8728:Vwa7
|
UTSW |
17 |
35,236,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8961:Vwa7
|
UTSW |
17 |
35,238,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9275:Vwa7
|
UTSW |
17 |
35,238,712 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATACTGCTTCTGCTTCAGCTG -3'
(R):5'- AGCAGATTTGGACTGGCTG -3'
Sequencing Primer
(F):5'- GCTTCAGCTGCTGTTGCC -3'
(R):5'- ATTACAGGTGTGTGCCATCAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation