Incidental Mutation 'IGL02947:Vwa7'
ID |
364812 |
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: 0.055)
|
Stock # |
IGL02947
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
35235555-35245717 bp(+) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
A to G
at 35242476 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133418
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007245]
[ENSMUST00000040151]
[ENSMUST00000172499]
[ENSMUST00000174037]
[ENSMUST00000174117]
|
AlphaFold |
Q9JHA8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000007245
|
SMART Domains |
Protein: ENSMUSP00000007245 Gene: ENSMUSG00000007030
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 null
Transcript: ENSMUST00000172499
|
SMART Domains |
Protein: ENSMUSP00000133418 Gene: ENSMUSG00000007030
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
G |
5: 77,049,957 (GRCm39) |
V13A |
probably benign |
Het |
Atp8b5 |
T |
A |
4: 43,305,774 (GRCm39) |
I106K |
possibly damaging |
Het |
Cdh15 |
T |
C |
8: 123,592,111 (GRCm39) |
S633P |
probably benign |
Het |
Celsr3 |
A |
G |
9: 108,723,134 (GRCm39) |
T228A |
probably benign |
Het |
Cfap90 |
T |
A |
13: 68,759,312 (GRCm39) |
F95L |
probably benign |
Het |
Chrng |
A |
G |
1: 87,137,606 (GRCm39) |
|
probably null |
Het |
Coprs |
T |
C |
8: 13,935,782 (GRCm39) |
E79G |
probably damaging |
Het |
Cpb2 |
A |
C |
14: 75,520,758 (GRCm39) |
Y391S |
probably damaging |
Het |
Cyp2j8 |
A |
T |
4: 96,358,815 (GRCm39) |
I368N |
probably damaging |
Het |
Ddah1 |
T |
C |
3: 145,464,842 (GRCm39) |
F76L |
probably benign |
Het |
Eif2ak4 |
A |
G |
2: 118,261,514 (GRCm39) |
T573A |
probably benign |
Het |
Exoc6b |
T |
A |
6: 84,835,411 (GRCm39) |
M375L |
probably benign |
Het |
Fasn |
T |
C |
11: 120,706,502 (GRCm39) |
E994G |
probably damaging |
Het |
Fem1a |
T |
A |
17: 56,565,640 (GRCm39) |
C578S |
probably benign |
Het |
Garnl3 |
A |
G |
2: 32,936,606 (GRCm39) |
S188P |
probably damaging |
Het |
Gpn3 |
T |
C |
5: 122,516,551 (GRCm39) |
V60A |
possibly damaging |
Het |
Hnrnpr |
A |
G |
4: 136,043,690 (GRCm39) |
D59G |
probably damaging |
Het |
Hydin |
A |
T |
8: 111,145,094 (GRCm39) |
E815V |
probably damaging |
Het |
Itga9 |
C |
T |
9: 118,487,601 (GRCm39) |
T228M |
probably damaging |
Het |
Kpna7 |
T |
C |
5: 144,930,884 (GRCm39) |
I320M |
probably damaging |
Het |
Lnpep |
T |
C |
17: 17,791,234 (GRCm39) |
T437A |
probably damaging |
Het |
Ltf |
C |
T |
9: 110,868,015 (GRCm39) |
T48I |
probably benign |
Het |
Masp1 |
T |
G |
16: 23,313,476 (GRCm39) |
D153A |
probably damaging |
Het |
Mcpt9 |
T |
A |
14: 56,264,373 (GRCm39) |
R241* |
probably null |
Het |
Msantd4 |
T |
A |
9: 4,384,787 (GRCm39) |
S171T |
probably damaging |
Het |
Nos1 |
G |
A |
5: 118,081,382 (GRCm39) |
V1229M |
probably damaging |
Het |
Npc1l1 |
A |
G |
11: 6,179,246 (GRCm39) |
S55P |
probably benign |
Het |
Oc90 |
T |
C |
15: 65,759,983 (GRCm39) |
K212R |
probably benign |
Het |
Or2a12 |
A |
G |
6: 42,904,830 (GRCm39) |
I222V |
probably benign |
Het |
Or5t15 |
C |
T |
2: 86,681,130 (GRCm39) |
R304K |
probably benign |
Het |
Or6c202 |
C |
A |
10: 128,996,439 (GRCm39) |
C138F |
probably damaging |
Het |
Prr12 |
T |
A |
7: 44,697,980 (GRCm39) |
Q645L |
unknown |
Het |
Psmd9 |
A |
G |
5: 123,384,278 (GRCm39) |
I145V |
probably benign |
Het |
Rbks |
T |
C |
5: 31,817,407 (GRCm39) |
I121V |
probably benign |
Het |
Rnase2b |
A |
T |
14: 51,400,264 (GRCm39) |
Y115F |
probably damaging |
Het |
Sarnp |
A |
G |
10: 128,675,723 (GRCm39) |
E78G |
probably benign |
Het |
Sltm |
A |
G |
9: 70,498,946 (GRCm39) |
S1007G |
probably benign |
Het |
Spata31d1c |
T |
A |
13: 65,182,759 (GRCm39) |
Y100* |
probably null |
Het |
Srrm2 |
T |
C |
17: 24,029,720 (GRCm39) |
S222P |
probably benign |
Het |
Sult3a1 |
G |
A |
10: 33,740,046 (GRCm39) |
R35Q |
possibly damaging |
Het |
Tfap4 |
T |
C |
16: 4,369,224 (GRCm39) |
D132G |
probably damaging |
Het |
Tmem53 |
C |
T |
4: 117,125,285 (GRCm39) |
Q111* |
probably null |
Het |
Togaram1 |
T |
A |
12: 65,068,274 (GRCm39) |
V1709D |
probably damaging |
Het |
Trpm3 |
A |
T |
19: 22,878,483 (GRCm39) |
D628V |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,544,838 (GRCm39) |
K31009* |
probably null |
Het |
Vldlr |
A |
G |
19: 27,217,120 (GRCm39) |
I58V |
probably benign |
Het |
Vmn1r4 |
T |
C |
6: 56,934,231 (GRCm39) |
F245S |
probably benign |
Het |
Vrtn |
T |
A |
12: 84,695,258 (GRCm39) |
S3T |
probably damaging |
Het |
Wrnip1 |
T |
A |
13: 33,006,053 (GRCm39) |
Y632N |
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 |
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 |
2015-12-18 |