Incidental Mutation 'R8961:Vwa7'
| ID |
682362 |
| 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 |
068795-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R8961 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35235555-35245717 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 35238086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 229
(T229I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007245]
[ENSMUST00000087315]
[ENSMUST00000172499]
[ENSMUST00000173584]
|
| AlphaFold |
Q9JHA8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007245
AA Change: T229I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007245
Gene: ENSMUSG00000007030
AA Change: T229I
| 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 damaging
Transcript: ENSMUST00000172499
AA Change: T229I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133418
Gene: ENSMUSG00000007030
AA Change: T229I
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700064H15Rik |
T |
A |
3: 19,664,633 (GRCm39) |
|
probably benign |
Het |
| Angptl6 |
T |
C |
9: 20,789,467 (GRCm39) |
T142A |
probably benign |
Het |
| Atp6v1b2 |
A |
G |
8: 69,555,414 (GRCm39) |
I202V |
probably benign |
Het |
| B3gat2 |
A |
T |
1: 23,801,900 (GRCm39) |
D62V |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,929,573 (GRCm39) |
D1211G |
possibly damaging |
Het |
| Ccp110 |
T |
G |
7: 118,322,110 (GRCm39) |
D588E |
probably damaging |
Het |
| Cdh6 |
A |
T |
15: 13,041,447 (GRCm39) |
I539K |
probably benign |
Het |
| Chd5 |
A |
G |
4: 152,467,489 (GRCm39) |
|
probably benign |
Het |
| Crim1 |
T |
C |
17: 78,680,117 (GRCm39) |
S953P |
possibly damaging |
Het |
| Dennd2a |
T |
C |
6: 39,462,555 (GRCm39) |
K652E |
probably damaging |
Het |
| Dnajb3 |
T |
A |
1: 88,132,998 (GRCm39) |
R135* |
probably null |
Het |
| Dnajc25 |
T |
A |
4: 59,020,438 (GRCm39) |
M168K |
|
Het |
| Elfn2 |
T |
C |
15: 78,557,378 (GRCm39) |
S390G |
probably benign |
Het |
| Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
| Fam135b |
T |
A |
15: 71,404,812 (GRCm39) |
N78I |
probably damaging |
Het |
| Flot2 |
G |
A |
11: 77,945,632 (GRCm39) |
|
probably benign |
Het |
| Gm10277 |
T |
A |
11: 77,677,826 (GRCm39) |
|
probably benign |
Het |
| Itpr1 |
T |
C |
6: 108,470,666 (GRCm39) |
V2198A |
possibly damaging |
Het |
| Kndc1 |
T |
A |
7: 139,503,976 (GRCm39) |
F1093L |
possibly damaging |
Het |
| Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
| Kpna4 |
T |
C |
3: 68,986,821 (GRCm39) |
T523A |
probably benign |
Het |
| Krt39 |
T |
C |
11: 99,409,931 (GRCm39) |
D202G |
possibly damaging |
Het |
| Loxhd1 |
C |
T |
18: 77,472,765 (GRCm39) |
T985M |
probably damaging |
Het |
| Mdc1 |
T |
C |
17: 36,159,407 (GRCm39) |
S596P |
probably benign |
Het |
| Misp |
A |
G |
10: 79,663,823 (GRCm39) |
Q599R |
probably benign |
Het |
| Mogs |
C |
A |
6: 83,092,720 (GRCm39) |
F53L |
probably benign |
Het |
| Mthfr |
A |
T |
4: 148,128,099 (GRCm39) |
N167Y |
probably damaging |
Het |
| Nod1 |
C |
T |
6: 54,926,461 (GRCm39) |
E53K |
probably damaging |
Het |
| Or1j11 |
A |
T |
2: 36,312,177 (GRCm39) |
I256F |
probably damaging |
Het |
| Or52l1 |
A |
G |
7: 104,830,376 (GRCm39) |
I48T |
possibly damaging |
Het |
| Or5m5 |
T |
A |
2: 85,814,610 (GRCm39) |
M142K |
probably damaging |
Het |
| Or6c5c |
C |
T |
10: 129,299,225 (GRCm39) |
P227S |
probably damaging |
Het |
| Or6z5 |
T |
C |
7: 6,477,763 (GRCm39) |
V218A |
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,726,717 (GRCm39) |
I2263T |
possibly damaging |
Het |
| Rbbp8 |
T |
C |
18: 11,865,262 (GRCm39) |
M717T |
probably benign |
Het |
| Rest |
A |
G |
5: 77,416,482 (GRCm39) |
H232R |
probably damaging |
Het |
| Rps6ka1 |
A |
G |
4: 133,587,362 (GRCm39) |
|
probably null |
Het |
| Rtf1 |
T |
A |
2: 119,557,377 (GRCm39) |
F465I |
probably benign |
Het |
| Skil |
T |
C |
3: 31,167,729 (GRCm39) |
S454P |
probably benign |
Het |
| Snx13 |
T |
C |
12: 35,155,285 (GRCm39) |
Y450H |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,647,414 (GRCm39) |
E971V |
possibly damaging |
Het |
| Sqle |
T |
A |
15: 59,187,695 (GRCm39) |
M1K |
probably null |
Het |
| Srcap |
C |
G |
7: 127,141,101 (GRCm39) |
P1566R |
probably damaging |
Het |
| Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
| Tmc3 |
T |
C |
7: 83,256,970 (GRCm39) |
Y408H |
probably damaging |
Het |
| Uba2 |
A |
T |
7: 33,855,642 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
G |
T |
9: 73,839,524 (GRCm39) |
N442K |
probably benign |
Het |
| Vmn1r21 |
T |
A |
6: 57,820,829 (GRCm39) |
H205L |
probably damaging |
Het |
| Washc4 |
A |
G |
10: 83,409,657 (GRCm39) |
D602G |
probably damaging |
Het |
| Zcchc9 |
C |
A |
13: 91,953,955 (GRCm39) |
|
probably benign |
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 |
|
R9037:Vwa7
|
UTSW |
17 |
35,236,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9275:Vwa7
|
UTSW |
17 |
35,238,712 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGTGTCTGTGGCCTTTCC -3'
(R):5'- CTAAGGAGATGCAACCAGGATC -3'
Sequencing Primer
(F):5'- CCTATCTTTCCAGCTGAGAGGAG -3'
(R):5'- CAGAGGTCCTGAGTTCAATTCCTAG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation