Incidental Mutation 'R0057:Vwa7'
| ID |
16296 |
| 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 |
038351-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R0057 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35235555-35245717 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 35243523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 710
(S710N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007245]
[ENSMUST00000007250]
[ENSMUST00000040151]
[ENSMUST00000097338]
[ENSMUST00000172499]
[ENSMUST00000172536]
[ENSMUST00000174603]
[ENSMUST00000174037]
[ENSMUST00000174117]
|
| AlphaFold |
Q9JHA8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007245
AA Change: S731N
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000007245
Gene: ENSMUSG00000007030
AA Change: S731N
| 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: ENSMUST00000007250
|
| SMART Domains |
Protein: ENSMUSP00000007250
Gene: ENSMUSG00000007035
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
49 |
N/A |
INTRINSIC |
|
MUTSd
|
248 |
568 |
9.72e-72 |
SMART |
|
MUTSac
|
584 |
775 |
2.2e-61 |
SMART |
|
Blast:MUTSac
|
795 |
833 |
3e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040151
|
| SMART Domains |
Protein: ENSMUSP00000047448
Gene: ENSMUSG00000036185
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Suppressor_APC
|
35 |
114 |
2.1e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097338
|
| SMART Domains |
Protein: ENSMUSP00000094951
Gene: ENSMUSG00000007035
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
49 |
N/A |
INTRINSIC |
|
MUTSd
|
248 |
568 |
9.72e-72 |
SMART |
|
MUTSac
|
584 |
775 |
2.2e-61 |
SMART |
|
Blast:MUTSac
|
795 |
833 |
3e-11 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172499
AA Change: S710N
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133418
Gene: ENSMUSG00000007030
AA Change: S710N
| 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: ENSMUST00000172536
|
| SMART Domains |
Protein: ENSMUSP00000134426
Gene: ENSMUSG00000007035
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
49 |
N/A |
INTRINSIC |
|
MUTSd
|
248 |
568 |
9.72e-72 |
SMART |
|
low complexity region
|
604 |
615 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173124
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173211
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174603
|
| SMART Domains |
Protein: ENSMUSP00000134065
Gene: ENSMUSG00000007035
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
49 |
N/A |
INTRINSIC |
|
MUTSd
|
248 |
493 |
1.67e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174037
|
| SMART Domains |
Protein: ENSMUSP00000133881
Gene: ENSMUSG00000036185
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
84 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174117
|
| SMART Domains |
Protein: ENSMUSP00000134423
Gene: ENSMUSG00000036185
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
84 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174026
|
| SMART Domains |
Protein: ENSMUSP00000134295
Gene: ENSMUSG00000007035
| Domain | Start | End | E-Value | Type |
|---|
|
MUTSac
|
1 |
166 |
4e-36 |
SMART |
|
| Meta Mutation Damage Score |
0.1620 |
| Coding Region Coverage |
- 1x: 90.1%
- 3x: 87.8%
- 10x: 82.7%
- 20x: 75.7%
|
| Validation Efficiency |
89% (65/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
T |
11: 109,832,385 (GRCm39) |
F1309L |
possibly damaging |
Het |
| Abcc6 |
C |
T |
7: 45,669,567 (GRCm39) |
A163T |
probably benign |
Het |
| Adam23 |
T |
A |
1: 63,610,078 (GRCm39) |
H693Q |
probably damaging |
Het |
| Afg3l2 |
A |
G |
18: 67,556,156 (GRCm39) |
F392L |
probably damaging |
Het |
| Ak9 |
A |
T |
10: 41,268,724 (GRCm39) |
T1055S |
probably benign |
Het |
| Ap5z1 |
T |
C |
5: 142,456,144 (GRCm39) |
|
probably benign |
Het |
| Arhgef10l |
A |
G |
4: 140,338,529 (GRCm39) |
|
probably benign |
Het |
| Bloc1s6 |
T |
A |
2: 122,586,141 (GRCm39) |
|
probably benign |
Het |
| Caskin1 |
A |
G |
17: 24,723,870 (GRCm39) |
N886S |
probably damaging |
Het |
| Celsr1 |
A |
C |
15: 85,914,963 (GRCm39) |
S1003R |
probably benign |
Het |
| Ctse |
G |
T |
1: 131,591,109 (GRCm39) |
D97Y |
probably damaging |
Het |
| Cux1 |
T |
A |
5: 136,285,136 (GRCm39) |
I505F |
probably damaging |
Het |
| Dcaf11 |
T |
C |
14: 55,806,767 (GRCm39) |
V490A |
probably benign |
Het |
| Dscam |
A |
C |
16: 96,474,936 (GRCm39) |
W1209G |
probably damaging |
Het |
| Emc8 |
A |
G |
8: 121,385,822 (GRCm39) |
|
probably benign |
Het |
| Entpd6 |
A |
G |
2: 150,600,748 (GRCm39) |
K152R |
probably null |
Het |
| Eps8l2 |
C |
T |
7: 140,922,884 (GRCm39) |
T49I |
probably benign |
Het |
| Fcsk |
C |
T |
8: 111,620,400 (GRCm39) |
|
probably benign |
Het |
| Gm12251 |
C |
A |
11: 58,283,867 (GRCm39) |
|
probably benign |
Het |
| Gna11 |
A |
G |
10: 81,366,774 (GRCm39) |
M312T |
probably benign |
Het |
| Hacd2 |
T |
A |
16: 34,895,997 (GRCm39) |
V105D |
probably damaging |
Het |
| Il17a |
T |
A |
1: 20,803,881 (GRCm39) |
I92N |
probably damaging |
Het |
| Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
| Irak4 |
A |
C |
15: 94,451,753 (GRCm39) |
R115S |
probably benign |
Het |
| Jarid2 |
C |
T |
13: 45,038,332 (GRCm39) |
H77Y |
probably damaging |
Het |
| Kcnk6 |
A |
T |
7: 28,925,088 (GRCm39) |
L176Q |
probably damaging |
Het |
| Kmt2b |
A |
T |
7: 30,276,217 (GRCm39) |
|
probably benign |
Het |
| Kremen2 |
A |
C |
17: 23,962,202 (GRCm39) |
I210S |
possibly damaging |
Het |
| Ldah |
T |
C |
12: 8,288,432 (GRCm39) |
|
probably benign |
Het |
| Lgals9 |
A |
T |
11: 78,862,262 (GRCm39) |
|
probably benign |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mfsd4b4 |
T |
A |
10: 39,891,097 (GRCm38) |
|
probably benign |
Het |
| Msh4 |
C |
T |
3: 153,575,318 (GRCm39) |
A686T |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,389,578 (GRCm39) |
N3411D |
probably damaging |
Het |
| Myt1l |
A |
G |
12: 29,892,611 (GRCm39) |
|
probably null |
Het |
| Nmbr |
A |
G |
10: 14,636,268 (GRCm39) |
N79S |
probably damaging |
Het |
| Npsr1 |
A |
T |
9: 24,211,723 (GRCm39) |
I84F |
probably damaging |
Het |
| Or52h1 |
G |
T |
7: 103,829,536 (GRCm39) |
H26Q |
probably benign |
Het |
| Or5m10b |
C |
A |
2: 85,699,597 (GRCm39) |
Y220* |
probably null |
Het |
| Or6z5 |
T |
C |
7: 6,477,679 (GRCm39) |
L190P |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,328,509 (GRCm39) |
Y328C |
probably damaging |
Het |
| Rasal3 |
A |
G |
17: 32,610,357 (GRCm39) |
S977P |
probably benign |
Het |
| Ros1 |
C |
T |
10: 52,056,287 (GRCm39) |
V68I |
probably benign |
Het |
| Shmt2 |
G |
A |
10: 127,356,917 (GRCm39) |
T31M |
possibly damaging |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Snrnp200 |
C |
G |
2: 127,079,827 (GRCm39) |
L1899V |
probably damaging |
Het |
| Snrnp48 |
T |
A |
13: 38,400,356 (GRCm39) |
C154* |
probably null |
Het |
| Tdrd6 |
G |
A |
17: 43,928,052 (GRCm39) |
|
probably benign |
Het |
| Tmem175 |
C |
T |
5: 108,787,428 (GRCm39) |
H92Y |
probably damaging |
Het |
| Tom1l1 |
G |
A |
11: 90,575,975 (GRCm39) |
|
probably benign |
Het |
| Top3a |
C |
T |
11: 60,631,510 (GRCm39) |
A951T |
probably benign |
Het |
| Tram2 |
C |
T |
1: 21,076,378 (GRCm39) |
R184Q |
probably damaging |
Het |
| Trpc4ap |
T |
C |
2: 155,482,406 (GRCm39) |
E528G |
possibly damaging |
Het |
| Zfa-ps |
A |
T |
10: 52,421,202 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp770 |
T |
A |
2: 114,027,713 (GRCm39) |
R119* |
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-01-20 |
Incidental Mutation