Incidental Mutation 'R1906:Vwa5b1'
| ID |
214361 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa5b1
|
| Ensembl Gene |
ENSMUSG00000028753 |
| Gene Name |
von Willebrand factor A domain containing 5B1 |
| Synonyms |
4931403E03Rik |
| MMRRC Submission |
039925-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1906 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
138292671-138363195 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 138327547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 343
(V343E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030533]
[ENSMUST00000105812]
|
| AlphaFold |
A9Z1V5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030533
AA Change: V343E
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030533
Gene: ENSMUSG00000028753
AA Change: V343E
| 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 |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 94.9%
- 20x: 91.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
G |
A |
6: 23,072,984 (GRCm39) |
T923I |
probably benign |
Het |
| Abhd13 |
T |
A |
8: 10,038,170 (GRCm39) |
C256S |
probably benign |
Het |
| Adamts5 |
C |
T |
16: 85,665,573 (GRCm39) |
W576* |
probably null |
Het |
| Adnp |
A |
T |
2: 168,024,287 (GRCm39) |
S1003T |
probably benign |
Het |
| AI987944 |
C |
T |
7: 41,024,550 (GRCm39) |
R146Q |
probably benign |
Het |
| Apol6 |
G |
T |
15: 76,935,060 (GRCm39) |
V110F |
probably damaging |
Het |
| Arhgap27 |
A |
G |
11: 103,223,751 (GRCm39) |
F651L |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,417,868 (GRCm39) |
D813G |
probably damaging |
Het |
| Casd1 |
T |
A |
6: 4,641,979 (GRCm39) |
I752N |
probably damaging |
Het |
| Cdr2 |
A |
G |
7: 120,581,224 (GRCm39) |
Y18H |
probably damaging |
Het |
| Cntn4 |
T |
C |
6: 106,330,607 (GRCm39) |
F75S |
probably benign |
Het |
| Col20a1 |
G |
A |
2: 180,640,490 (GRCm39) |
R549H |
probably benign |
Het |
| Col28a1 |
A |
T |
6: 7,999,644 (GRCm39) |
N1024K |
probably benign |
Het |
| Dnah10 |
T |
A |
5: 124,878,048 (GRCm39) |
V2654D |
probably damaging |
Het |
| Dnph1 |
A |
T |
17: 46,807,787 (GRCm39) |
I18F |
probably damaging |
Het |
| Dsn1 |
G |
A |
2: 156,838,163 (GRCm39) |
R334W |
probably damaging |
Het |
| Egf |
T |
A |
3: 129,518,873 (GRCm39) |
K325N |
probably benign |
Het |
| Eps15 |
T |
G |
4: 109,181,398 (GRCm39) |
S311A |
possibly damaging |
Het |
| Fmo3 |
G |
T |
1: 162,794,475 (GRCm39) |
D198E |
probably damaging |
Het |
| Folh1 |
C |
G |
7: 86,391,374 (GRCm39) |
|
probably null |
Het |
| Foxn1 |
A |
G |
11: 78,262,636 (GRCm39) |
|
probably null |
Het |
| Gm10604 |
T |
G |
4: 11,979,989 (GRCm39) |
D105A |
unknown |
Het |
| Gpx8 |
A |
G |
13: 113,182,110 (GRCm39) |
C108R |
probably damaging |
Het |
| Herc2 |
A |
T |
7: 55,764,612 (GRCm39) |
I1013L |
probably benign |
Het |
| Hyal4 |
T |
G |
6: 24,756,110 (GRCm39) |
N109K |
probably damaging |
Het |
| Il22ra1 |
T |
G |
4: 135,478,544 (GRCm39) |
C538W |
probably damaging |
Het |
| Ints13 |
A |
T |
6: 146,453,868 (GRCm39) |
|
probably null |
Het |
| Krt75 |
T |
A |
15: 101,481,801 (GRCm39) |
T156S |
possibly damaging |
Het |
| Lama2 |
A |
C |
10: 26,932,523 (GRCm39) |
|
probably null |
Het |
| Lifr |
G |
T |
15: 7,217,612 (GRCm39) |
V847L |
probably damaging |
Het |
| Lmf1 |
T |
A |
17: 25,831,309 (GRCm39) |
I185N |
probably damaging |
Het |
| Mast1 |
G |
A |
8: 85,642,895 (GRCm39) |
R967C |
probably damaging |
Het |
| Ms4a15 |
T |
C |
19: 10,960,644 (GRCm39) |
I94V |
probably benign |
Het |
| Mycbpap |
A |
T |
11: 94,396,447 (GRCm39) |
M131K |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,240,211 (GRCm39) |
M920K |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,198,538 (GRCm39) |
Y437H |
probably damaging |
Het |
| Npy5r |
A |
T |
8: 67,134,125 (GRCm39) |
W223R |
probably damaging |
Het |
| Or10ak11 |
G |
A |
4: 118,687,467 (GRCm39) |
H56Y |
probably damaging |
Het |
| Or10x4 |
C |
A |
1: 174,218,730 (GRCm39) |
L32M |
probably damaging |
Het |
| Or4c114 |
A |
G |
2: 88,905,414 (GRCm39) |
V7A |
possibly damaging |
Het |
| Or6c6c |
T |
G |
10: 129,541,365 (GRCm39) |
V206G |
probably benign |
Het |
| Polg |
T |
C |
7: 79,110,070 (GRCm39) |
K353E |
probably damaging |
Het |
| Proz |
C |
G |
8: 13,123,686 (GRCm39) |
|
probably null |
Het |
| Pus7 |
T |
C |
5: 23,983,209 (GRCm39) |
D86G |
probably damaging |
Het |
| Rhpn1 |
T |
C |
15: 75,583,673 (GRCm39) |
V386A |
probably benign |
Het |
| Rigi |
T |
C |
4: 40,206,054 (GRCm39) |
K846R |
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,090,856 (GRCm39) |
|
probably null |
Het |
| Srp68 |
A |
T |
11: 116,141,587 (GRCm39) |
I424N |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,526,908 (GRCm39) |
E1055G |
probably benign |
Het |
| Taf4b |
A |
G |
18: 14,955,159 (GRCm39) |
I571V |
probably benign |
Het |
| Tas2r107 |
T |
C |
6: 131,636,951 (GRCm39) |
M33V |
probably benign |
Het |
| Thap12 |
T |
C |
7: 98,365,947 (GRCm39) |
L705P |
probably damaging |
Het |
| Tom1 |
T |
C |
8: 75,778,218 (GRCm39) |
V100A |
probably damaging |
Het |
| Tox3 |
A |
G |
8: 90,975,057 (GRCm39) |
|
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,232,344 (GRCm39) |
N781S |
probably damaging |
Het |
| Zbbx |
A |
G |
3: 74,979,047 (GRCm39) |
Y467H |
probably damaging |
Het |
| Zbtb46 |
G |
A |
2: 181,065,632 (GRCm39) |
R173W |
probably damaging |
Het |
| Zfp112 |
A |
G |
7: 23,821,720 (GRCm39) |
D20G |
probably benign |
Het |
| Zfp777 |
A |
C |
6: 48,018,995 (GRCm39) |
M313R |
probably damaging |
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 |
|
|
IGL02864:Vwa5b1
|
APN |
4 |
138,336,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAGAAAGTTCTCTGGAAGCC -3'
(R):5'- TTGTGCACCCTAGATAGGCC -3'
Sequencing Primer
(F):5'- CCAGGCAGAGGAAAGCAC -3'
(R):5'- AGGAGTTCCCTGAGACTTGTAAC -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation