Incidental Mutation 'IGL02864:Vwa5b1'
| ID |
362288 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vwa5b1
|
| Ensembl Gene |
ENSMUSG00000028753 |
| Gene Name |
von Willebrand factor A domain containing 5B1 |
| Synonyms |
4931403E03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02864
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
138292671-138363195 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 138336286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 103
(P103S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030533]
[ENSMUST00000105812]
|
| AlphaFold |
A9Z1V5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030533
AA Change: P103S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000030533
Gene: ENSMUSG00000028753
AA Change: P103S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VIT_2
|
2 |
79 |
2e-28 |
PFAM |
|
Pfam:VIT
|
15 |
138 |
1.5e-7 |
PFAM |
|
VWA
|
351 |
513 |
6.04e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105812
|
| SMART Domains |
Protein: ENSMUSP00000101438
Gene: ENSMUSG00000028753
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VIT_2
|
16 |
93 |
1.9e-30 |
PFAM |
|
Pfam:VIT
|
29 |
103 |
2.1e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133319
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154312
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,937,080 (GRCm39) |
R347G |
probably damaging |
Het |
| Actl11 |
G |
A |
9: 107,806,186 (GRCm39) |
A170T |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,440,670 (GRCm39) |
D241G |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,835,308 (GRCm39) |
W745R |
probably damaging |
Het |
| Arhgef7 |
G |
A |
8: 11,865,247 (GRCm39) |
V401I |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,773,663 (GRCm39) |
V1709A |
probably benign |
Het |
| Ccl20 |
T |
C |
1: 83,095,799 (GRCm39) |
|
probably null |
Het |
| Cd209d |
C |
T |
8: 3,927,122 (GRCm39) |
V48I |
probably benign |
Het |
| Cttnbp2 |
T |
C |
6: 18,374,548 (GRCm39) |
N1559S |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,951,829 (GRCm39) |
Y1890C |
probably damaging |
Het |
| Dsel |
A |
T |
1: 111,786,944 (GRCm39) |
M1197K |
probably damaging |
Het |
| Dtl |
A |
T |
1: 191,288,938 (GRCm39) |
S259T |
probably benign |
Het |
| Fbxw10 |
G |
A |
11: 62,764,349 (GRCm39) |
G672D |
probably damaging |
Het |
| Fhod1 |
C |
T |
8: 106,063,796 (GRCm39) |
|
probably benign |
Het |
| Gstk1 |
A |
G |
6: 42,224,687 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Gtpbp2 |
G |
A |
17: 46,476,520 (GRCm39) |
C282Y |
probably benign |
Het |
| Hapln3 |
A |
T |
7: 78,767,812 (GRCm39) |
W113R |
probably benign |
Het |
| Ifng |
A |
G |
10: 118,278,561 (GRCm39) |
Y74C |
probably damaging |
Het |
| Kyat1 |
C |
A |
2: 30,082,089 (GRCm39) |
|
probably benign |
Het |
| Las1l |
A |
T |
X: 94,991,446 (GRCm39) |
D308E |
possibly damaging |
Het |
| Mdh1b |
T |
A |
1: 63,760,762 (GRCm39) |
T100S |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,338,806 (GRCm39) |
M810K |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,543,685 (GRCm39) |
D593G |
probably damaging |
Het |
| Pnma5 |
A |
T |
X: 72,079,457 (GRCm39) |
D408E |
probably benign |
Het |
| Pramel46 |
G |
T |
5: 95,418,543 (GRCm39) |
A151E |
possibly damaging |
Het |
| Psen2 |
T |
C |
1: 180,073,268 (GRCm39) |
T18A |
probably benign |
Het |
| Ptk7 |
A |
T |
17: 46,883,659 (GRCm39) |
V802E |
probably damaging |
Het |
| Setd1b |
G |
A |
5: 123,297,002 (GRCm39) |
|
probably benign |
Het |
| Snap91 |
T |
C |
9: 86,720,141 (GRCm39) |
N132S |
possibly damaging |
Het |
| Spag9 |
A |
G |
11: 93,997,487 (GRCm39) |
H675R |
probably damaging |
Het |
| Tpra1 |
C |
A |
6: 88,888,868 (GRCm39) |
P350H |
probably damaging |
Het |
| Trim43a |
C |
T |
9: 88,470,165 (GRCm39) |
R324C |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,566,675 (GRCm39) |
I28073V |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,767,095 (GRCm39) |
H3023Q |
probably benign |
Het |
| Vmn1r21 |
A |
G |
6: 57,820,661 (GRCm39) |
V261A |
probably benign |
Het |
| Wars1 |
A |
G |
12: 108,848,791 (GRCm39) |
M52T |
probably benign |
Het |
| Zcchc2 |
C |
T |
1: 105,943,814 (GRCm39) |
H460Y |
probably damaging |
Het |
| Zscan12 |
G |
T |
13: 21,552,730 (GRCm39) |
V185F |
probably benign |
Het |
|
| Other mutations in Vwa5b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01952:Vwa5b1
|
APN |
4 |
138,308,528 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02133:Vwa5b1
|
APN |
4 |
138,313,868 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02379:Vwa5b1
|
APN |
4 |
138,340,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02671:Vwa5b1
|
APN |
4 |
138,296,437 (GRCm39) |
nonsense |
probably null |
|
|
IGL03076:Vwa5b1
|
APN |
4 |
138,327,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03115:Vwa5b1
|
APN |
4 |
138,327,460 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03119:Vwa5b1
|
APN |
4 |
138,333,852 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4283001:Vwa5b1
|
UTSW |
4 |
138,327,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0114:Vwa5b1
|
UTSW |
4 |
138,336,169 (GRCm39) |
nonsense |
probably null |
|
|
R0157:Vwa5b1
|
UTSW |
4 |
138,332,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0528:Vwa5b1
|
UTSW |
4 |
138,321,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0562:Vwa5b1
|
UTSW |
4 |
138,363,022 (GRCm39) |
splice site |
probably benign |
|
|
R0718:Vwa5b1
|
UTSW |
4 |
138,336,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1555:Vwa5b1
|
UTSW |
4 |
138,332,788 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1573:Vwa5b1
|
UTSW |
4 |
138,332,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1857:Vwa5b1
|
UTSW |
4 |
138,296,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1883:Vwa5b1
|
UTSW |
4 |
138,302,700 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1906:Vwa5b1
|
UTSW |
4 |
138,327,547 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1913:Vwa5b1
|
UTSW |
4 |
138,319,331 (GRCm39) |
nonsense |
probably null |
|
|
R2121:Vwa5b1
|
UTSW |
4 |
138,315,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2213:Vwa5b1
|
UTSW |
4 |
138,332,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2355:Vwa5b1
|
UTSW |
4 |
138,319,221 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2655:Vwa5b1
|
UTSW |
4 |
138,321,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4134:Vwa5b1
|
UTSW |
4 |
138,321,641 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4135:Vwa5b1
|
UTSW |
4 |
138,321,641 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4635:Vwa5b1
|
UTSW |
4 |
138,338,150 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4773:Vwa5b1
|
UTSW |
4 |
138,309,066 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4832:Vwa5b1
|
UTSW |
4 |
138,332,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4906:Vwa5b1
|
UTSW |
4 |
138,338,058 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4916:Vwa5b1
|
UTSW |
4 |
138,321,573 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4995:Vwa5b1
|
UTSW |
4 |
138,336,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5573:Vwa5b1
|
UTSW |
4 |
138,336,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5872:Vwa5b1
|
UTSW |
4 |
138,305,962 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6255:Vwa5b1
|
UTSW |
4 |
138,305,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6811:Vwa5b1
|
UTSW |
4 |
138,319,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6901:Vwa5b1
|
UTSW |
4 |
138,313,880 (GRCm39) |
missense |
probably benign |
|
|
R7144:Vwa5b1
|
UTSW |
4 |
138,332,742 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7146:Vwa5b1
|
UTSW |
4 |
138,308,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7159:Vwa5b1
|
UTSW |
4 |
138,302,733 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7362:Vwa5b1
|
UTSW |
4 |
138,321,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7690:Vwa5b1
|
UTSW |
4 |
138,318,244 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7908:Vwa5b1
|
UTSW |
4 |
138,296,481 (GRCm39) |
nonsense |
probably null |
|
|
R7965:Vwa5b1
|
UTSW |
4 |
138,332,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8865:Vwa5b1
|
UTSW |
4 |
138,308,530 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8866:Vwa5b1
|
UTSW |
4 |
138,327,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8872:Vwa5b1
|
UTSW |
4 |
138,305,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8889:Vwa5b1
|
UTSW |
4 |
138,338,041 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9045:Vwa5b1
|
UTSW |
4 |
138,315,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9089:Vwa5b1
|
UTSW |
4 |
138,296,742 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9273:Vwa5b1
|
UTSW |
4 |
138,316,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9366:Vwa5b1
|
UTSW |
4 |
138,318,229 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9450:Vwa5b1
|
UTSW |
4 |
138,315,940 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9646:Vwa5b1
|
UTSW |
4 |
138,319,420 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Vwa5b1
|
UTSW |
4 |
138,340,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation