Incidental Mutation 'R4393:Vwa3b'
ID |
326443 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwa3b
|
Ensembl Gene |
ENSMUSG00000050122 |
Gene Name |
von Willebrand factor A domain containing 3B |
Synonyms |
A230074B11Rik, 4921511C04Rik |
MMRRC Submission |
041128-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R4393 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
37068372-37226689 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37084259 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 144
(V144A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027289
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027289]
[ENSMUST00000067178]
[ENSMUST00000117172]
[ENSMUST00000124404]
[ENSMUST00000162449]
|
AlphaFold |
A0A571BE33 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027289
AA Change: V144A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027289 Gene: ENSMUSG00000050122 AA Change: V144A
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067178
AA Change: V144A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000069700 Gene: ENSMUSG00000050122 AA Change: V144A
Domain | Start | End | E-Value | Type |
Blast:VWA
|
112 |
272 |
7e-16 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117172
AA Change: V144A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114022 Gene: ENSMUSG00000050122 AA Change: V144A
Domain | Start | End | E-Value | Type |
Blast:VWA
|
112 |
272 |
7e-16 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000124404
AA Change: V144A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141690 Gene: ENSMUSG00000050122 AA Change: V144A
Domain | Start | End | E-Value | Type |
Blast:VWA
|
112 |
272 |
5e-16 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162449
AA Change: V144A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125460 Gene: ENSMUSG00000050122 AA Change: V144A
Domain | Start | End | E-Value | Type |
Blast:VWA
|
112 |
272 |
7e-16 |
BLAST |
|
Meta Mutation Damage Score |
0.4910 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.5%
- 20x: 92.4%
|
Validation Efficiency |
95% (71/75) |
Allele List at MGI |
All alleles(71) : Targeted(3) Gene trapped(68)
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433N12Rik |
C |
A |
9: 3,134,944 (GRCm39) |
|
noncoding transcript |
Het |
Adgrg4 |
T |
G |
X: 55,977,703 (GRCm39) |
L2193V |
probably damaging |
Het |
Adgrl1 |
T |
C |
8: 84,665,222 (GRCm39) |
V1353A |
probably benign |
Het |
Cep68 |
A |
T |
11: 20,188,544 (GRCm39) |
N620K |
probably benign |
Het |
Clcnkb |
A |
G |
4: 141,139,547 (GRCm39) |
S152P |
probably benign |
Het |
Crybg3 |
A |
G |
16: 59,380,458 (GRCm39) |
|
probably benign |
Het |
Cyp26c1 |
G |
A |
19: 37,675,105 (GRCm39) |
R142H |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dlg5 |
T |
A |
14: 24,228,057 (GRCm39) |
|
probably null |
Het |
Dnai7 |
T |
C |
6: 145,140,304 (GRCm39) |
T166A |
possibly damaging |
Het |
Ebf3 |
C |
T |
7: 136,826,886 (GRCm39) |
R342H |
probably damaging |
Het |
Ece2 |
T |
C |
16: 20,451,598 (GRCm39) |
V380A |
probably damaging |
Het |
Epb41l4a |
C |
T |
18: 34,024,473 (GRCm39) |
|
probably null |
Het |
Erbb3 |
G |
T |
10: 128,408,639 (GRCm39) |
Q815K |
probably damaging |
Het |
Ercc3 |
T |
A |
18: 32,398,674 (GRCm39) |
M651K |
probably benign |
Het |
Fam3b |
C |
A |
16: 97,282,986 (GRCm39) |
|
probably null |
Het |
Foxp2 |
A |
C |
6: 15,377,689 (GRCm39) |
|
probably benign |
Het |
Gdf10 |
T |
C |
14: 33,654,695 (GRCm39) |
Y401H |
probably damaging |
Het |
Gm21738 |
G |
C |
14: 19,417,178 (GRCm38) |
L117V |
probably benign |
Het |
Gm6408 |
A |
T |
5: 146,419,147 (GRCm39) |
D54V |
probably damaging |
Het |
H2-T5 |
C |
A |
17: 36,472,861 (GRCm39) |
|
probably benign |
Het |
Hcn4 |
A |
G |
9: 58,751,583 (GRCm39) |
E403G |
unknown |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hjurp |
A |
G |
1: 88,194,283 (GRCm39) |
|
probably benign |
Het |
Hyou1 |
T |
A |
9: 44,293,169 (GRCm39) |
V125E |
probably damaging |
Het |
Il11ra1 |
T |
C |
4: 41,768,577 (GRCm39) |
|
probably null |
Het |
Immt |
T |
A |
6: 71,849,784 (GRCm39) |
S435T |
probably benign |
Het |
Kcnip2 |
A |
G |
19: 45,800,669 (GRCm39) |
L19P |
probably benign |
Het |
Kctd2 |
T |
C |
11: 115,320,326 (GRCm39) |
|
probably benign |
Het |
Mdga1 |
T |
C |
17: 30,069,491 (GRCm39) |
D185G |
probably damaging |
Het |
Mdn1 |
C |
T |
4: 32,754,482 (GRCm39) |
T4666M |
possibly damaging |
Het |
Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
Msl2 |
A |
G |
9: 100,978,676 (GRCm39) |
E350G |
probably damaging |
Het |
Muc4 |
C |
A |
16: 32,754,529 (GRCm38) |
H1468N |
probably benign |
Het |
Myo3a |
A |
T |
2: 22,467,866 (GRCm39) |
K373N |
probably damaging |
Het |
Nr5a1 |
T |
C |
2: 38,584,231 (GRCm39) |
E396G |
probably damaging |
Het |
Ogdh |
G |
A |
11: 6,266,772 (GRCm39) |
G141D |
probably damaging |
Het |
Or10q1b |
T |
C |
19: 13,682,554 (GRCm39) |
I121T |
possibly damaging |
Het |
Or2h2c |
T |
C |
17: 37,424,971 (GRCm39) |
|
probably benign |
Het |
Or5w1b |
A |
T |
2: 87,476,256 (GRCm39) |
C70* |
probably null |
Het |
Orc2 |
C |
A |
1: 58,506,809 (GRCm39) |
|
probably null |
Het |
P4ha3 |
C |
T |
7: 99,954,814 (GRCm39) |
P291S |
probably benign |
Het |
Pign |
T |
C |
1: 105,449,751 (GRCm39) |
K925R |
probably benign |
Het |
Plekhm1 |
A |
G |
11: 103,267,791 (GRCm39) |
S727P |
possibly damaging |
Het |
Prr36 |
G |
T |
8: 4,264,901 (GRCm39) |
|
probably benign |
Het |
Prrt3 |
A |
G |
6: 113,471,907 (GRCm39) |
L755P |
probably benign |
Het |
Secisbp2 |
A |
G |
13: 51,808,502 (GRCm39) |
H89R |
probably damaging |
Het |
Sgms2 |
A |
T |
3: 131,135,466 (GRCm39) |
|
probably null |
Het |
Slc35d3 |
T |
C |
10: 19,725,352 (GRCm39) |
|
probably null |
Het |
Slu7 |
T |
A |
11: 43,330,096 (GRCm39) |
N174K |
possibly damaging |
Het |
Teddm1a |
G |
T |
1: 153,768,192 (GRCm39) |
D219Y |
probably damaging |
Het |
Tgtp1 |
C |
A |
11: 48,878,450 (GRCm39) |
G85V |
probably damaging |
Het |
Tmem51 |
T |
C |
4: 141,759,242 (GRCm39) |
T169A |
probably benign |
Het |
Tmem69 |
C |
T |
4: 116,411,964 (GRCm39) |
|
probably null |
Het |
Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
Zdhhc21 |
A |
G |
4: 82,765,891 (GRCm39) |
C15R |
possibly damaging |
Het |
Zfp142 |
T |
C |
1: 74,611,219 (GRCm39) |
T756A |
probably benign |
Het |
Zfp606 |
C |
T |
7: 12,226,776 (GRCm39) |
S241F |
probably damaging |
Het |
Zfp804a |
A |
T |
2: 82,087,265 (GRCm39) |
T365S |
probably benign |
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 |
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 |
R8213:Vwa3b
|
UTSW |
1 |
37,168,020 (GRCm39) |
missense |
probably benign |
0.07 |
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'- GTGGATTACTTAACACAAGCCG -3'
(R):5'- AACCTGAGGTGTCCTGAGAAG -3'
Sequencing Primer
(F):5'- CACAAGCCGTGGAGAGCTAC -3'
(R):5'- CCTGAGAAGTGCATATAAAAGTTCCC -3'
|
Posted On |
2015-07-06 |