Incidental Mutation 'IGL01920:Vwa7'
| ID |
180073 |
| 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 # |
IGL01920
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35235555-35245717 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 35243579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 729
(V729I)
|
| 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 |
probably benign
Transcript: ENSMUST00000007245
AA Change: V750I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000007245
Gene: ENSMUSG00000007030
AA Change: V750I
| 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 |
probably benign
Transcript: ENSMUST00000172499
AA Change: V729I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000133418
Gene: ENSMUSG00000007030
AA Change: V729I
| 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: ENSMUST00000174026
|
| SMART Domains |
Protein: ENSMUSP00000134295
Gene: ENSMUSG00000007035
| Domain | Start | End | E-Value | Type |
|---|
|
MUTSac
|
1 |
166 |
4e-36 |
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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
C |
T |
8: 111,769,878 (GRCm39) |
R326W |
probably damaging |
Het |
| Acad11 |
T |
C |
9: 103,941,104 (GRCm39) |
|
probably null |
Het |
| Acat2 |
A |
G |
17: 13,162,912 (GRCm39) |
I312T |
probably benign |
Het |
| Adgrl3 |
T |
C |
5: 81,613,143 (GRCm39) |
V192A |
probably damaging |
Het |
| Akap1 |
T |
C |
11: 88,730,459 (GRCm39) |
H643R |
probably damaging |
Het |
| Akap7 |
A |
T |
10: 25,165,501 (GRCm39) |
C85* |
probably null |
Het |
| Ankrd11 |
T |
C |
8: 123,642,636 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
G |
A |
7: 144,165,191 (GRCm39) |
|
probably benign |
Het |
| Csnk1g2 |
T |
C |
10: 80,474,262 (GRCm39) |
L161P |
probably damaging |
Het |
| Dvl2 |
A |
G |
11: 69,898,873 (GRCm39) |
H420R |
probably benign |
Het |
| Fam135b |
G |
T |
15: 71,493,885 (GRCm39) |
H15N |
possibly damaging |
Het |
| Foxj1 |
G |
T |
11: 116,222,746 (GRCm39) |
H352Q |
possibly damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Hectd1 |
T |
C |
12: 51,829,337 (GRCm39) |
I969M |
probably damaging |
Het |
| Kcnh3 |
C |
A |
15: 99,131,258 (GRCm39) |
P544T |
probably benign |
Het |
| Or7g35 |
A |
C |
9: 19,496,318 (GRCm39) |
M162L |
probably benign |
Het |
| Pcnt |
A |
G |
10: 76,240,362 (GRCm39) |
L1224P |
probably damaging |
Het |
| Prss2 |
A |
G |
6: 41,501,477 (GRCm39) |
N182S |
possibly damaging |
Het |
| Sgsm1 |
A |
T |
5: 113,421,471 (GRCm39) |
W594R |
probably damaging |
Het |
| Slc38a1 |
C |
T |
15: 96,484,778 (GRCm39) |
A261T |
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Vcan |
C |
T |
13: 89,837,324 (GRCm39) |
G2740E |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation