Incidental Mutation 'R4635:Vwa5b1'
ID |
349430 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwa5b1
|
Ensembl Gene |
ENSMUSG00000028753 |
Gene Name |
von Willebrand factor A domain containing 5B1 |
Synonyms |
4931403E03Rik |
MMRRC Submission |
041899-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4635 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
138292671-138363195 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 138338150 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 71
(S71R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101438
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030533]
[ENSMUST00000105812]
|
AlphaFold |
A9Z1V5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030533
AA Change: S57R
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000030533 Gene: ENSMUSG00000028753 AA Change: S57R
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 |
possibly damaging
Transcript: ENSMUST00000105812
AA Change: S71R
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000101438 Gene: ENSMUSG00000028753 AA Change: S71R
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
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
98% (39/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
A |
T |
5: 8,764,927 (GRCm39) |
K639I |
probably benign |
Het |
Amer3 |
C |
A |
1: 34,626,958 (GRCm39) |
T399K |
probably damaging |
Het |
Arfgef3 |
T |
C |
10: 18,510,603 (GRCm39) |
Y786C |
probably damaging |
Het |
Arhgef26 |
A |
G |
3: 62,247,861 (GRCm39) |
Y315C |
probably damaging |
Het |
Ccdc121 |
G |
A |
5: 31,645,435 (GRCm39) |
R396Q |
probably benign |
Het |
Chchd6 |
T |
C |
6: 89,444,448 (GRCm39) |
E178G |
probably damaging |
Het |
Chd3 |
TGCTGCCGCTGCCGC |
TGCTGCCGCTGCCGCTGCCGC |
11: 69,253,013 (GRCm39) |
|
probably benign |
Het |
Daam1 |
T |
A |
12: 72,005,518 (GRCm39) |
|
probably null |
Het |
Ddx60 |
A |
G |
8: 62,490,101 (GRCm39) |
E1690G |
probably benign |
Het |
Eme2 |
G |
T |
17: 25,113,882 (GRCm39) |
P48T |
probably benign |
Het |
Ferd3l |
T |
C |
12: 33,978,835 (GRCm39) |
M116T |
probably damaging |
Het |
Gm13141 |
GGTTTCTTGATGCCA |
G |
4: 147,612,561 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2i |
T |
C |
5: 134,274,028 (GRCm39) |
N727D |
probably damaging |
Het |
Hao1 |
T |
A |
2: 134,365,072 (GRCm39) |
N185I |
probably damaging |
Het |
Kifap3 |
C |
T |
1: 163,642,004 (GRCm39) |
T195I |
probably damaging |
Het |
Mag |
A |
G |
7: 30,606,348 (GRCm39) |
F363S |
probably damaging |
Het |
Mef2a |
A |
G |
7: 66,890,175 (GRCm39) |
I135T |
possibly damaging |
Het |
Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
Nphs1 |
T |
C |
7: 30,167,432 (GRCm39) |
F787L |
probably benign |
Het |
Nr1h2 |
A |
C |
7: 44,201,961 (GRCm39) |
S42A |
probably benign |
Het |
Odad4 |
C |
T |
11: 100,442,333 (GRCm39) |
Q164* |
probably null |
Het |
Or10ag2 |
T |
A |
2: 87,249,043 (GRCm39) |
M217K |
probably benign |
Het |
Or4a76 |
A |
C |
2: 89,460,516 (GRCm39) |
I242S |
possibly damaging |
Het |
Or51aa2 |
T |
C |
7: 103,188,355 (GRCm39) |
I29V |
probably benign |
Het |
Or5ak23 |
T |
A |
2: 85,245,208 (GRCm39) |
N5I |
probably damaging |
Het |
Rab38 |
T |
C |
7: 88,099,854 (GRCm39) |
V123A |
probably damaging |
Het |
Scd1 |
T |
C |
19: 44,395,024 (GRCm39) |
Y67C |
probably damaging |
Het |
Scn5a |
T |
C |
9: 119,358,051 (GRCm39) |
N730S |
possibly damaging |
Het |
Shc2 |
C |
T |
10: 79,462,120 (GRCm39) |
C341Y |
probably benign |
Het |
Tfdp2 |
T |
A |
9: 96,179,727 (GRCm39) |
N113K |
probably damaging |
Het |
Tmc3 |
A |
G |
7: 83,234,290 (GRCm39) |
|
probably benign |
Het |
Top6bl |
A |
G |
19: 4,748,524 (GRCm39) |
|
probably benign |
Het |
Tox |
A |
T |
4: 6,990,501 (GRCm39) |
|
probably benign |
Het |
Tspoap1 |
A |
G |
11: 87,668,683 (GRCm39) |
K1319E |
probably benign |
Het |
Vit |
G |
A |
17: 78,881,641 (GRCm39) |
V135I |
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 |
|
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 |
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 |
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'- GTTCAGCACTCTCTAACATGCC -3'
(R):5'- TGAACACAGCTACCCTTCACTG -3'
Sequencing Primer
(F):5'- TAACATGCCCCAGGTTGC -3'
(R):5'- AGCTACCCTTCACTGCCTGC -3'
|
Posted On |
2015-10-08 |