Incidental Mutation 'R4978:Vwa3b'
ID |
384581 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwa3b
|
Ensembl Gene |
ENSMUSG00000050122 |
Gene Name |
von Willebrand factor A domain containing 3B |
Synonyms |
A230074B11Rik, 4921511C04Rik |
MMRRC Submission |
042573-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R4978 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
37068372-37226689 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37154752 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 512
(Y512C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027289
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027289]
|
AlphaFold |
A0A571BE33 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027289
AA Change: Y512C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000027289 Gene: ENSMUSG00000050122 AA Change: Y512C
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: ENSMUST00000194048
|
Meta Mutation Damage Score |
0.2235 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
Validation Efficiency |
96% (70/73) |
Allele List at MGI |
All alleles(71) : Targeted(3) Gene trapped(68)
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam29 |
G |
A |
8: 56,324,436 (GRCm39) |
P673S |
probably damaging |
Het |
Adam39 |
T |
C |
8: 41,278,374 (GRCm39) |
I255T |
possibly damaging |
Het |
Adgrg6 |
A |
G |
10: 14,296,205 (GRCm39) |
F1093S |
probably damaging |
Het |
Amer3 |
A |
G |
1: 34,618,381 (GRCm39) |
|
probably benign |
Het |
Avil |
A |
T |
10: 126,854,265 (GRCm39) |
N744I |
probably benign |
Het |
B430305J03Rik |
T |
C |
3: 61,271,440 (GRCm39) |
|
probably benign |
Het |
Caps2 |
A |
T |
10: 112,018,399 (GRCm39) |
Q141L |
probably benign |
Het |
Capza2 |
T |
A |
6: 17,662,114 (GRCm39) |
D201E |
probably null |
Het |
Ccdc7b |
T |
C |
8: 129,836,688 (GRCm39) |
|
probably null |
Het |
Clcn6 |
C |
T |
4: 148,093,227 (GRCm39) |
V818I |
probably benign |
Het |
Cpeb4 |
C |
T |
11: 31,881,509 (GRCm39) |
H723Y |
probably null |
Het |
Cspp1 |
T |
A |
1: 10,153,742 (GRCm39) |
F384I |
possibly damaging |
Het |
Cyp2c50 |
T |
G |
19: 40,086,501 (GRCm39) |
V355G |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Dpys |
A |
T |
15: 39,690,332 (GRCm39) |
D340E |
possibly damaging |
Het |
Dsp |
T |
A |
13: 38,366,210 (GRCm39) |
L548Q |
probably damaging |
Het |
Dyrk2 |
A |
T |
10: 118,696,252 (GRCm39) |
D335E |
probably benign |
Het |
Etaa1 |
T |
C |
11: 17,896,581 (GRCm39) |
D512G |
probably damaging |
Het |
Fam210b |
G |
C |
2: 172,187,585 (GRCm39) |
A2P |
probably damaging |
Het |
Fbxo9 |
G |
A |
9: 77,993,168 (GRCm39) |
|
probably benign |
Het |
Fh1 |
A |
T |
1: 175,431,533 (GRCm39) |
M451K |
probably damaging |
Het |
Flrt1 |
A |
G |
19: 7,074,241 (GRCm39) |
L102P |
probably damaging |
Het |
Gins2 |
A |
G |
8: 121,315,550 (GRCm39) |
L40S |
possibly damaging |
Het |
Gm5436 |
G |
A |
12: 84,305,461 (GRCm39) |
|
noncoding transcript |
Het |
Gm7298 |
T |
G |
6: 121,710,076 (GRCm39) |
|
probably null |
Het |
Gm7353 |
A |
G |
7: 3,160,038 (GRCm39) |
|
noncoding transcript |
Het |
Gramd1a |
T |
C |
7: 30,832,213 (GRCm39) |
E608G |
possibly damaging |
Het |
Hcls1 |
T |
C |
16: 36,758,222 (GRCm39) |
W38R |
probably damaging |
Het |
Ik |
C |
T |
18: 36,880,468 (GRCm39) |
P51S |
possibly damaging |
Het |
Irx1 |
A |
G |
13: 72,111,604 (GRCm39) |
S2P |
possibly damaging |
Het |
Kng2 |
T |
A |
16: 22,806,666 (GRCm39) |
N511I |
probably damaging |
Het |
Limk2 |
G |
T |
11: 3,359,069 (GRCm39) |
|
probably benign |
Het |
Map1a |
T |
G |
2: 121,131,623 (GRCm39) |
V813G |
probably benign |
Het |
Mast1 |
T |
C |
8: 85,662,416 (GRCm39) |
T31A |
probably damaging |
Het |
N4bp2 |
T |
C |
5: 65,947,583 (GRCm39) |
F71S |
probably damaging |
Het |
Neurod1 |
C |
T |
2: 79,284,571 (GRCm39) |
G271R |
probably damaging |
Het |
Or52x1 |
T |
C |
7: 104,853,398 (GRCm39) |
I51V |
probably benign |
Het |
Pcdhb22 |
A |
G |
18: 37,651,654 (GRCm39) |
T41A |
probably benign |
Het |
Pclo |
T |
A |
5: 14,764,492 (GRCm39) |
S4322T |
probably benign |
Het |
Pde9a |
T |
A |
17: 31,692,197 (GRCm39) |
D497E |
probably benign |
Het |
Plaa |
A |
G |
4: 94,478,169 (GRCm39) |
S98P |
possibly damaging |
Het |
Prl2c1 |
A |
G |
13: 28,041,553 (GRCm39) |
T192A |
probably benign |
Het |
Ptpn18 |
T |
C |
1: 34,508,894 (GRCm39) |
|
probably benign |
Het |
Rab27b |
C |
T |
18: 70,127,585 (GRCm39) |
V68I |
probably benign |
Het |
Reep5 |
A |
G |
18: 34,506,349 (GRCm39) |
F9S |
probably damaging |
Het |
Scaf11 |
T |
C |
15: 96,313,798 (GRCm39) |
N1328D |
probably damaging |
Het |
Slc25a13 |
G |
A |
6: 6,042,300 (GRCm39) |
S626F |
probably damaging |
Het |
Smg1 |
A |
G |
7: 117,753,470 (GRCm39) |
|
probably benign |
Het |
Spock2 |
T |
A |
10: 59,966,911 (GRCm39) |
F332I |
probably benign |
Het |
Tep1 |
C |
T |
14: 51,082,891 (GRCm39) |
R1039Q |
possibly damaging |
Het |
Thap1 |
AGCAGCATCTGCTCG |
AG |
8: 26,650,882 (GRCm39) |
|
probably null |
Het |
Tradd |
T |
C |
8: 105,985,900 (GRCm39) |
Q217R |
probably benign |
Het |
Umodl1 |
T |
C |
17: 31,205,055 (GRCm39) |
I550T |
probably benign |
Het |
Vgll3 |
T |
A |
16: 65,612,572 (GRCm39) |
Y18* |
probably null |
Het |
Vmn1r49 |
G |
T |
6: 90,049,872 (GRCm39) |
N43K |
probably benign |
Het |
Vps50 |
A |
G |
6: 3,517,808 (GRCm39) |
N82S |
probably benign |
Het |
Vstm2a |
A |
G |
11: 16,211,460 (GRCm39) |
D90G |
possibly damaging |
Het |
Wrnip1 |
A |
G |
13: 33,000,295 (GRCm39) |
D434G |
probably damaging |
Het |
Zan |
C |
T |
5: 137,405,183 (GRCm39) |
|
probably benign |
Het |
Zfp286 |
A |
G |
11: 62,679,754 (GRCm39) |
|
probably null |
Het |
Zkscan17 |
A |
G |
11: 59,384,053 (GRCm39) |
V123A |
possibly damaging |
Het |
Zkscan2 |
C |
G |
7: 123,094,542 (GRCm39) |
A211P |
possibly damaging |
Het |
Zswim4 |
C |
T |
8: 84,953,296 (GRCm39) |
|
probably null |
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 |
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'- TCAGTAGAGGCCAAACATCCAG -3'
(R):5'- CTGTTCATGTATAGACACCGCCTG -3'
Sequencing Primer
(F):5'- GCCAAACATCCAGACTATATCATTTG -3'
(R):5'- GGTGCCCAAGCCATTTCTCAG -3'
|
Posted On |
2016-05-10 |