Incidental Mutation 'R8213:Vwa3b'
| ID |
636233 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa3b
|
| Ensembl Gene |
ENSMUSG00000050122 |
| Gene Name |
von Willebrand factor A domain containing 3B |
| Synonyms |
A230074B11Rik, 4921511C04Rik |
| MMRRC Submission |
067655-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R8213 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
37068372-37226689 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 37168020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 603
(A603V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027289]
|
| AlphaFold |
A0A571BE33 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027289
AA Change: A603V
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000027289
Gene: ENSMUSG00000050122
AA Change: A603V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4537
|
159 |
285 |
9.1e-36 |
PFAM |
|
low complexity region
|
327 |
336 |
N/A |
INTRINSIC |
|
low complexity region
|
345 |
364 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
All alleles(71) : Targeted(3) Gene trapped(68)
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
C |
15: 60,791,605 (GRCm39) |
Y277C |
probably damaging |
Het |
| Acss1 |
T |
A |
2: 150,461,630 (GRCm39) |
D651V |
possibly damaging |
Het |
| Aktip |
G |
T |
8: 91,851,494 (GRCm39) |
P243H |
possibly damaging |
Het |
| Arl11 |
T |
G |
14: 61,548,714 (GRCm39) |
S175A |
probably benign |
Het |
| Aup1 |
A |
G |
6: 83,031,588 (GRCm39) |
|
probably benign |
Het |
| Avil |
A |
T |
10: 126,844,190 (GRCm39) |
I250F |
probably damaging |
Het |
| Btnl6 |
A |
T |
17: 34,727,857 (GRCm39) |
|
probably null |
Het |
| Ccdc7b |
C |
A |
8: 129,904,772 (GRCm39) |
Q137K |
probably benign |
Het |
| Cdk11b |
G |
A |
4: 155,724,338 (GRCm39) |
E319K |
unknown |
Het |
| Chka |
A |
C |
19: 3,935,882 (GRCm39) |
E196A |
probably damaging |
Het |
| Depdc5 |
C |
T |
5: 33,094,981 (GRCm39) |
R753C |
probably damaging |
Het |
| Dhx57 |
T |
A |
17: 80,582,585 (GRCm39) |
D340V |
possibly damaging |
Het |
| Dicer1 |
A |
T |
12: 104,668,952 (GRCm39) |
D1243E |
probably benign |
Het |
| Dnajb9 |
A |
T |
12: 44,253,916 (GRCm39) |
L164M |
probably benign |
Het |
| Dock6 |
A |
G |
9: 21,742,740 (GRCm39) |
V785A |
possibly damaging |
Het |
| Efcab5 |
T |
C |
11: 77,006,897 (GRCm39) |
Y909C |
probably damaging |
Het |
| Erp44 |
A |
T |
4: 48,208,783 (GRCm39) |
S226T |
probably benign |
Het |
| Fgd6 |
A |
T |
10: 93,879,914 (GRCm39) |
D256V |
probably benign |
Het |
| Fhl5 |
A |
T |
4: 25,207,113 (GRCm39) |
Y218* |
probably null |
Het |
| Filip1 |
C |
A |
9: 79,725,374 (GRCm39) |
A1082S |
probably benign |
Het |
| Heatr5a |
G |
A |
12: 51,938,226 (GRCm39) |
T1484M |
probably damaging |
Het |
| Herc1 |
G |
T |
9: 66,358,170 (GRCm39) |
R2417L |
probably damaging |
Het |
| Hnrnpr |
A |
G |
4: 136,044,486 (GRCm39) |
|
probably benign |
Het |
| Igsf5 |
A |
T |
16: 96,174,188 (GRCm39) |
I73F |
probably damaging |
Het |
| Il17ra |
T |
C |
6: 120,449,995 (GRCm39) |
V91A |
probably benign |
Het |
| Inpp5f |
A |
G |
7: 128,281,529 (GRCm39) |
D510G |
probably damaging |
Het |
| Kbtbd3 |
A |
G |
9: 4,331,269 (GRCm39) |
K548E |
probably damaging |
Het |
| Kdm5d |
T |
A |
Y: 941,515 (GRCm39) |
C1239S |
probably damaging |
Het |
| Mamdc4 |
G |
A |
2: 25,456,368 (GRCm39) |
T709M |
probably benign |
Het |
| Mybbp1a |
T |
A |
11: 72,335,547 (GRCm39) |
Y353N |
probably damaging |
Het |
| Nepn |
A |
T |
10: 52,267,855 (GRCm39) |
E40D |
probably benign |
Het |
| Nhsl3 |
A |
T |
4: 129,115,252 (GRCm39) |
V1070D |
possibly damaging |
Het |
| Npat |
G |
T |
9: 53,481,870 (GRCm39) |
E1193* |
probably null |
Het |
| Nrde2 |
G |
A |
12: 100,097,262 (GRCm39) |
S846L |
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,202,138 (GRCm39) |
V1290A |
probably benign |
Het |
| Or10a49 |
C |
A |
7: 108,467,726 (GRCm39) |
V212L |
probably benign |
Het |
| Or4d10b |
A |
G |
19: 12,036,456 (GRCm39) |
V220A |
probably benign |
Het |
| Or5g9 |
T |
A |
2: 85,551,845 (GRCm39) |
L32Q |
probably null |
Het |
| Pde6a |
A |
T |
18: 61,353,768 (GRCm39) |
K31M |
possibly damaging |
Het |
| Pms2 |
C |
T |
5: 143,851,589 (GRCm39) |
R169C |
probably damaging |
Het |
| Polr2g |
A |
T |
19: 8,775,621 (GRCm39) |
L30Q |
probably damaging |
Het |
| Pramel22 |
T |
A |
4: 143,380,755 (GRCm39) |
M423L |
probably benign |
Het |
| Pramel30 |
A |
T |
4: 144,057,030 (GRCm39) |
D71V |
probably benign |
Het |
| Prdm15 |
T |
A |
16: 97,608,260 (GRCm39) |
H679L |
probably damaging |
Het |
| Prl4a1 |
T |
G |
13: 28,207,369 (GRCm39) |
Y214* |
probably null |
Het |
| Prlr |
C |
T |
15: 10,329,328 (GRCm39) |
T601M |
possibly damaging |
Het |
| Psen2 |
A |
C |
1: 180,073,256 (GRCm39) |
S22A |
probably benign |
Het |
| Ralgapa1 |
C |
A |
12: 55,769,699 (GRCm39) |
R764L |
probably damaging |
Het |
| Scgb2b11 |
T |
C |
7: 31,908,833 (GRCm39) |
E89G |
probably damaging |
Het |
| Serpina10 |
T |
C |
12: 103,594,536 (GRCm39) |
I228V |
probably benign |
Het |
| Serpinb1a |
T |
A |
13: 33,026,982 (GRCm39) |
H320L |
probably damaging |
Het |
| Sesn2 |
C |
A |
4: 132,225,364 (GRCm39) |
Q267H |
possibly damaging |
Het |
| Sgsm1 |
A |
T |
5: 113,398,877 (GRCm39) |
W1019R |
probably damaging |
Het |
| Sqle |
A |
G |
15: 59,193,151 (GRCm39) |
|
probably null |
Het |
| Syt14 |
T |
C |
1: 192,669,137 (GRCm39) |
M39V |
probably benign |
Het |
| Tgm7 |
A |
G |
2: 120,931,545 (GRCm39) |
V206A |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,897,094 (GRCm39) |
|
probably null |
Het |
| Trpv1 |
T |
C |
11: 73,145,077 (GRCm39) |
F721S |
probably damaging |
Het |
| Ttll10 |
A |
T |
4: 156,120,691 (GRCm39) |
M433K |
probably benign |
Het |
| Vmn1r216 |
T |
C |
13: 23,283,695 (GRCm39) |
I126T |
probably benign |
Het |
| Vmn2r108 |
G |
A |
17: 20,690,350 (GRCm39) |
S494F |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,307,210 (GRCm39) |
N19K |
probably damaging |
Het |
| Zfp397 |
T |
A |
18: 24,093,779 (GRCm39) |
N421K |
probably damaging |
Het |
| Zscan5b |
C |
T |
7: 6,236,946 (GRCm39) |
P232S |
possibly damaging |
Het |
|
| Other mutations in Vwa3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01404:Vwa3b
|
APN |
1 |
37,193,117 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02236:Vwa3b
|
APN |
1 |
37,193,132 (GRCm39) |
splice site |
probably benign |
|
|
IGL02653:Vwa3b
|
APN |
1 |
37,214,646 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02823:Vwa3b
|
APN |
1 |
37,225,985 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03030:Vwa3b
|
APN |
1 |
37,084,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0014:Vwa3b
|
UTSW |
1 |
37,212,995 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0035:Vwa3b
|
UTSW |
1 |
37,204,770 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0102:Vwa3b
|
UTSW |
1 |
37,174,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0556:Vwa3b
|
UTSW |
1 |
37,203,566 (GRCm39) |
splice site |
probably benign |
|
|
R1061:Vwa3b
|
UTSW |
1 |
37,196,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Vwa3b
|
UTSW |
1 |
37,090,962 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2441:Vwa3b
|
UTSW |
1 |
37,182,150 (GRCm39) |
unclassified |
probably benign |
|
|
R3117:Vwa3b
|
UTSW |
1 |
37,148,158 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3119:Vwa3b
|
UTSW |
1 |
37,148,158 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4081:Vwa3b
|
UTSW |
1 |
37,074,905 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4393:Vwa3b
|
UTSW |
1 |
37,084,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4897:Vwa3b
|
UTSW |
1 |
37,153,684 (GRCm39) |
splice site |
probably benign |
|
|
R4950:Vwa3b
|
UTSW |
1 |
37,124,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4978:Vwa3b
|
UTSW |
1 |
37,154,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5141:Vwa3b
|
UTSW |
1 |
37,226,102 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5286:Vwa3b
|
UTSW |
1 |
37,084,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5356:Vwa3b
|
UTSW |
1 |
37,153,664 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5426:Vwa3b
|
UTSW |
1 |
37,154,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5480:Vwa3b
|
UTSW |
1 |
37,139,787 (GRCm39) |
nonsense |
probably null |
|
|
R5727:Vwa3b
|
UTSW |
1 |
37,174,600 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5876:Vwa3b
|
UTSW |
1 |
37,115,520 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6191:Vwa3b
|
UTSW |
1 |
37,153,612 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6219:Vwa3b
|
UTSW |
1 |
37,139,779 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6250:Vwa3b
|
UTSW |
1 |
37,090,966 (GRCm39) |
splice site |
probably null |
|
|
R6281:Vwa3b
|
UTSW |
1 |
37,163,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6419:Vwa3b
|
UTSW |
1 |
37,196,457 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6467:Vwa3b
|
UTSW |
1 |
37,124,367 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6512:Vwa3b
|
UTSW |
1 |
37,102,723 (GRCm39) |
intron |
probably benign |
|
|
R6541:Vwa3b
|
UTSW |
1 |
37,090,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6724:Vwa3b
|
UTSW |
1 |
37,084,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6728:Vwa3b
|
UTSW |
1 |
37,196,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7046:Vwa3b
|
UTSW |
1 |
37,212,959 (GRCm39) |
missense |
probably benign |
|
|
R7117:Vwa3b
|
UTSW |
1 |
37,174,634 (GRCm39) |
missense |
|
|
|
R7304:Vwa3b
|
UTSW |
1 |
37,203,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7402:Vwa3b
|
UTSW |
1 |
37,153,678 (GRCm39) |
nonsense |
probably null |
|
|
R7762:Vwa3b
|
UTSW |
1 |
37,163,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7911:Vwa3b
|
UTSW |
1 |
37,193,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8402:Vwa3b
|
UTSW |
1 |
37,204,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8697:Vwa3b
|
UTSW |
1 |
37,115,461 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8758:Vwa3b
|
UTSW |
1 |
37,176,873 (GRCm39) |
missense |
|
|
|
R8874:Vwa3b
|
UTSW |
1 |
37,074,839 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9011:Vwa3b
|
UTSW |
1 |
37,154,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9012:Vwa3b
|
UTSW |
1 |
37,124,391 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9015:Vwa3b
|
UTSW |
1 |
37,203,597 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9102:Vwa3b
|
UTSW |
1 |
37,174,593 (GRCm39) |
start codon destroyed |
probably null |
|
|
R9263:Vwa3b
|
UTSW |
1 |
37,099,493 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9277:Vwa3b
|
UTSW |
1 |
37,196,534 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9294:Vwa3b
|
UTSW |
1 |
37,074,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9341:Vwa3b
|
UTSW |
1 |
37,153,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9343:Vwa3b
|
UTSW |
1 |
37,153,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9502:Vwa3b
|
UTSW |
1 |
37,099,520 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9758:Vwa3b
|
UTSW |
1 |
37,081,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCAGAATTTGACCACCTGTG -3'
(R):5'- GAGCTGATCTTTGAGACTCGTAAC -3'
Sequencing Primer
(F):5'- CTTTTACCCTTTCCAAAAACATGTTG -3'
(R):5'- CTCTAATGAATGAATGCACGAACG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation