Incidental Mutation 'IGL03263:Vwa7'
ID |
414980 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vwa7
|
Ensembl Gene |
ENSMUSG00000007030 |
Gene Name |
von Willebrand factor A domain containing 7 |
Synonyms |
G7c, D17H6S56E-3 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
IGL03263
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
35235555-35245717 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35240575 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 410
(E410G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133418
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007245]
[ENSMUST00000040151]
[ENSMUST00000172499]
[ENSMUST00000174037]
[ENSMUST00000174117]
|
AlphaFold |
Q9JHA8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000007245
AA Change: E431G
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000007245 Gene: ENSMUSG00000007030 AA Change: E431G
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: 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: ENSMUST00000172499
AA Change: E410G
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000133418 Gene: ENSMUSG00000007030 AA Change: E410G
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 |
noncoding transcript
Transcript: ENSMUST00000173211
|
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
T |
A |
5: 138,562,499 (GRCm39) |
I81F |
probably damaging |
Het |
Acacb |
C |
T |
5: 114,351,754 (GRCm39) |
H1164Y |
probably damaging |
Het |
Adamts5 |
A |
T |
16: 85,666,830 (GRCm39) |
V554E |
probably damaging |
Het |
Asns |
G |
A |
6: 7,689,404 (GRCm39) |
R33C |
probably benign |
Het |
BC051076 |
T |
G |
5: 88,111,977 (GRCm39) |
|
noncoding transcript |
Het |
Bcas3 |
C |
T |
11: 85,712,948 (GRCm39) |
|
probably benign |
Het |
Bpifb1 |
A |
G |
2: 154,057,226 (GRCm39) |
M395V |
probably benign |
Het |
Cdcp1 |
C |
A |
9: 123,009,152 (GRCm39) |
V509L |
probably benign |
Het |
Cdhr2 |
A |
G |
13: 54,865,926 (GRCm39) |
T277A |
possibly damaging |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Clca4a |
T |
A |
3: 144,672,192 (GRCm39) |
E250V |
probably damaging |
Het |
Cplx4 |
T |
C |
18: 66,100,559 (GRCm39) |
D79G |
probably benign |
Het |
Dcaf11 |
A |
G |
14: 55,802,949 (GRCm39) |
D246G |
probably damaging |
Het |
Dnah2 |
A |
T |
11: 69,420,207 (GRCm39) |
|
probably null |
Het |
Dock3 |
A |
T |
9: 106,807,330 (GRCm39) |
|
probably benign |
Het |
Fam170a |
T |
C |
18: 50,413,588 (GRCm39) |
|
probably benign |
Het |
Fgfr2 |
T |
A |
7: 129,782,149 (GRCm39) |
M423L |
probably benign |
Het |
Gabra2 |
A |
G |
5: 71,130,836 (GRCm39) |
F331L |
probably damaging |
Het |
Galnt18 |
C |
T |
7: 111,119,321 (GRCm39) |
R400Q |
probably damaging |
Het |
H2-M11 |
A |
T |
17: 36,859,805 (GRCm39) |
Q266L |
probably damaging |
Het |
Igf2bp1 |
A |
T |
11: 95,857,499 (GRCm39) |
V502D |
probably damaging |
Het |
Ik |
A |
G |
18: 36,881,699 (GRCm39) |
N111S |
probably damaging |
Het |
Intu |
T |
A |
3: 40,627,027 (GRCm39) |
Y269* |
probably null |
Het |
Krt82 |
T |
C |
15: 101,450,307 (GRCm39) |
Y463C |
probably benign |
Het |
Lrig1 |
A |
G |
6: 94,588,628 (GRCm39) |
M507T |
probably benign |
Het |
Lrrc37 |
A |
G |
11: 103,504,525 (GRCm39) |
V2481A |
possibly damaging |
Het |
Mag |
T |
G |
7: 30,598,953 (GRCm39) |
|
probably null |
Het |
Map7 |
T |
A |
10: 20,121,068 (GRCm39) |
Y121* |
probably null |
Het |
Marchf6 |
A |
G |
15: 31,486,508 (GRCm39) |
I349T |
probably benign |
Het |
Mas1 |
A |
G |
17: 13,060,451 (GRCm39) |
V324A |
possibly damaging |
Het |
Nckap1l |
T |
C |
15: 103,372,832 (GRCm39) |
W259R |
probably damaging |
Het |
Nhsl1 |
T |
A |
10: 18,373,827 (GRCm39) |
Y164* |
probably null |
Het |
Or52e5 |
T |
A |
7: 104,719,209 (GRCm39) |
H178Q |
probably damaging |
Het |
Or8b38 |
A |
T |
9: 37,973,009 (GRCm39) |
Y131F |
probably damaging |
Het |
Pcdhb2 |
A |
G |
18: 37,429,059 (GRCm39) |
D344G |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,731,824 (GRCm39) |
V3442A |
unknown |
Het |
Polr3c |
C |
T |
3: 96,621,567 (GRCm39) |
|
probably benign |
Het |
Ppp2r2d |
C |
T |
7: 138,474,651 (GRCm39) |
R11* |
probably null |
Het |
Ptgfr |
T |
A |
3: 151,541,500 (GRCm39) |
M3L |
probably benign |
Het |
Rfx6 |
A |
G |
10: 51,601,903 (GRCm39) |
S741G |
probably benign |
Het |
Rif1 |
T |
C |
2: 51,980,273 (GRCm39) |
V490A |
probably damaging |
Het |
Samd7 |
T |
A |
3: 30,816,302 (GRCm39) |
H349Q |
probably damaging |
Het |
Sh3pxd2a |
T |
C |
19: 47,302,482 (GRCm39) |
N199S |
probably damaging |
Het |
Spef2 |
T |
A |
15: 9,667,305 (GRCm39) |
K794N |
possibly damaging |
Het |
Spta1 |
C |
T |
1: 174,041,484 (GRCm39) |
A1316V |
probably damaging |
Het |
Washc2 |
T |
A |
6: 116,215,084 (GRCm39) |
|
probably benign |
Het |
Wdr72 |
A |
C |
9: 74,064,711 (GRCm39) |
Y581S |
probably damaging |
Het |
Zdhhc17 |
T |
C |
10: 110,796,877 (GRCm39) |
D298G |
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 |
|
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 |
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 |
2016-08-02 |