Incidental Mutation 'R0102:Vwa3b'
ID |
17365 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwa3b
|
Ensembl Gene |
ENSMUSG00000050122 |
Gene Name |
von Willebrand factor A domain containing 3B |
Synonyms |
A230074B11Rik, 4921511C04Rik |
MMRRC Submission |
038388-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R0102 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
37068372-37226689 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 37174595 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Alanine
at position 670
(E670A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027289
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027289]
|
AlphaFold |
A0A571BE33 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027289
AA Change: E670A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000027289 Gene: ENSMUSG00000050122 AA Change: E670A
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 |
noncoding transcript
Transcript: ENSMUST00000195303
|
Predicted Effect |
unknown
Transcript: ENSMUST00000195450
AA Change: E2A
|
Meta Mutation Damage Score |
0.2132 |
Coding Region Coverage |
- 1x: 88.8%
- 3x: 85.2%
- 10x: 73.9%
- 20x: 53.9%
|
Validation Efficiency |
97% (84/87) |
Allele List at MGI |
All alleles(71) : Targeted(3) Gene trapped(68)
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,773,874 (GRCm39) |
K1021R |
probably damaging |
Het |
2610528J11Rik |
G |
A |
4: 118,386,762 (GRCm39) |
V36M |
probably damaging |
Het |
4930402F06Rik |
T |
A |
2: 35,265,795 (GRCm39) |
R292* |
probably null |
Het |
Abcb4 |
T |
C |
5: 8,959,194 (GRCm39) |
F207S |
probably damaging |
Het |
Adcy4 |
A |
C |
14: 56,008,990 (GRCm39) |
N812K |
probably benign |
Het |
Afap1l2 |
G |
T |
19: 56,916,872 (GRCm39) |
|
probably benign |
Het |
Arfgef2 |
A |
T |
2: 166,687,385 (GRCm39) |
H203L |
probably benign |
Het |
Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
Bod1l |
G |
A |
5: 41,974,612 (GRCm39) |
P2234L |
probably benign |
Het |
Cfi |
A |
C |
3: 129,642,416 (GRCm39) |
H90P |
probably damaging |
Het |
Cyp2d10 |
C |
T |
15: 82,288,794 (GRCm39) |
M229I |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,245,897 (GRCm39) |
|
probably benign |
Het |
Dnttip2 |
G |
T |
3: 122,069,452 (GRCm39) |
M222I |
probably benign |
Het |
Dync1li2 |
A |
T |
8: 105,154,757 (GRCm39) |
Y284N |
probably benign |
Het |
Ebf1 |
T |
C |
11: 44,882,282 (GRCm39) |
Y413H |
probably benign |
Het |
Exog |
A |
G |
9: 119,281,319 (GRCm39) |
T186A |
possibly damaging |
Het |
Fam171a2 |
T |
C |
11: 102,334,939 (GRCm39) |
N66S |
possibly damaging |
Het |
Gprc5a |
A |
T |
6: 135,056,033 (GRCm39) |
N160I |
probably damaging |
Het |
Haus3 |
A |
G |
5: 34,323,258 (GRCm39) |
|
probably null |
Het |
Klhl20 |
A |
T |
1: 160,918,015 (GRCm39) |
C90* |
probably null |
Het |
Krt84 |
T |
A |
15: 101,437,138 (GRCm39) |
I342L |
probably damaging |
Het |
Lifr |
G |
A |
15: 7,208,373 (GRCm39) |
D584N |
probably damaging |
Het |
Lmbrd2 |
G |
A |
15: 9,184,039 (GRCm39) |
R551K |
probably damaging |
Het |
Lrtm1 |
T |
A |
14: 28,744,184 (GRCm39) |
|
probably benign |
Het |
Mat1a |
T |
A |
14: 40,842,187 (GRCm39) |
|
probably benign |
Het |
Mest |
A |
G |
6: 30,746,269 (GRCm39) |
I279V |
probably damaging |
Het |
Mroh5 |
A |
T |
15: 73,691,199 (GRCm39) |
D155E |
probably benign |
Het |
Naa25 |
A |
G |
5: 121,573,632 (GRCm39) |
D787G |
possibly damaging |
Het |
Naaladl1 |
C |
T |
19: 6,162,534 (GRCm39) |
P465S |
probably damaging |
Het |
Necab3 |
G |
A |
2: 154,387,232 (GRCm39) |
R302C |
probably damaging |
Het |
Nsg1 |
A |
T |
5: 38,316,254 (GRCm39) |
D32E |
probably damaging |
Het |
Ntrk2 |
T |
C |
13: 58,956,607 (GRCm39) |
V22A |
probably benign |
Het |
Nuggc |
A |
G |
14: 65,851,000 (GRCm39) |
D290G |
probably null |
Het |
Nup205 |
A |
T |
6: 35,202,715 (GRCm39) |
|
probably benign |
Het |
Or2t35 |
C |
T |
14: 14,407,876 (GRCm38) |
S218F |
probably damaging |
Het |
Or4f57 |
G |
C |
2: 111,790,942 (GRCm39) |
Q159E |
probably damaging |
Het |
Pde4b |
T |
A |
4: 102,447,375 (GRCm39) |
S9T |
probably benign |
Het |
Phip |
A |
T |
9: 82,787,845 (GRCm39) |
|
probably null |
Het |
Pitpnm3 |
C |
T |
11: 71,947,072 (GRCm39) |
V776M |
probably damaging |
Het |
Pon2 |
A |
G |
6: 5,289,091 (GRCm39) |
|
probably benign |
Het |
Ppp1r12b |
T |
A |
1: 134,763,637 (GRCm39) |
|
probably null |
Het |
Ppp1r15b |
A |
G |
1: 133,060,908 (GRCm39) |
N475S |
probably damaging |
Het |
Prorp |
A |
G |
12: 55,429,082 (GRCm39) |
D535G |
probably benign |
Het |
Prrt3 |
A |
T |
6: 113,474,790 (GRCm39) |
L144H |
probably damaging |
Het |
Psmb7 |
A |
G |
2: 38,533,377 (GRCm39) |
V50A |
possibly damaging |
Het |
Sacs |
T |
A |
14: 61,442,017 (GRCm39) |
S1354R |
probably damaging |
Het |
Sdcbp2 |
A |
G |
2: 151,425,884 (GRCm39) |
T29A |
probably benign |
Het |
Shbg |
T |
A |
11: 69,508,415 (GRCm39) |
|
probably benign |
Het |
Shcbp1 |
A |
G |
8: 4,794,452 (GRCm39) |
I447T |
probably damaging |
Het |
Spata31h1 |
T |
A |
10: 82,119,390 (GRCm39) |
K4540M |
probably damaging |
Het |
Spata31h2 |
T |
A |
5: 23,542,489 (GRCm39) |
|
noncoding transcript |
Het |
Thbd |
A |
T |
2: 148,248,903 (GRCm39) |
C322S |
probably damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Trappc12 |
A |
T |
12: 28,796,751 (GRCm39) |
F260L |
probably damaging |
Het |
Trgv4 |
T |
G |
13: 19,369,370 (GRCm39) |
F38C |
possibly damaging |
Het |
Trim10 |
C |
A |
17: 37,181,074 (GRCm39) |
H102N |
probably damaging |
Het |
Ube2u |
A |
G |
4: 100,407,122 (GRCm39) |
T215A |
possibly damaging |
Het |
Vcan |
T |
G |
13: 89,851,787 (GRCm39) |
T1058P |
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 |
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 |
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 |
|
Posted On |
2013-01-20 |