Incidental Mutation 'R0057:Vwa7'
ID |
64383 |
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 |
95 |
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: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.9%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam23 |
T |
A |
1: 63,610,078 (GRCm39) |
H693Q |
probably damaging |
Het |
Ap5z1 |
T |
C |
5: 142,456,144 (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 |
Ctse |
G |
T |
1: 131,591,109 (GRCm39) |
D97Y |
probably damaging |
Het |
Dcaf11 |
T |
C |
14: 55,806,767 (GRCm39) |
V490A |
probably benign |
Het |
Dctn1 |
A |
G |
6: 83,156,874 (GRCm39) |
H7R |
probably benign |
Het |
Dscam |
A |
C |
16: 96,474,936 (GRCm39) |
W1209G |
probably damaging |
Het |
Fcsk |
C |
T |
8: 111,620,400 (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 |
Htra4 |
C |
A |
8: 25,528,824 (GRCm39) |
V23L |
probably benign |
Het |
Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
Msh4 |
C |
T |
3: 153,575,318 (GRCm39) |
A686T |
probably benign |
Het |
Nbas |
T |
A |
12: 13,440,958 (GRCm39) |
M1096K |
probably benign |
Het |
Or5m10b |
C |
A |
2: 85,699,597 (GRCm39) |
Y220* |
probably null |
Het |
Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
Prlr |
A |
G |
15: 10,328,509 (GRCm39) |
Y328C |
probably damaging |
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 |
Tas2r135 |
A |
G |
6: 42,383,354 (GRCm39) |
T298A |
probably benign |
Het |
Tmem175 |
C |
T |
5: 108,787,428 (GRCm39) |
H92Y |
probably damaging |
Het |
Top3a |
C |
T |
11: 60,631,510 (GRCm39) |
A951T |
probably benign |
Het |
Trpc4ap |
T |
C |
2: 155,482,406 (GRCm39) |
E528G |
possibly damaging |
Het |
Trpm6 |
T |
C |
19: 18,764,119 (GRCm39) |
C242R |
probably benign |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTAGACAGAAGCTTGTGGGTGGC -3'
(R):5'- CAAAAGACTCACCTGGAGAGGTTGG -3'
Sequencing Primer
(F):5'- GGCCAGCCACAGTTTTCC -3'
(R):5'- ACCTGGAGAGGTTGGAGGTG -3'
|
Posted On |
2013-08-06 |