Incidental Mutation 'R6512:Vwa3b'
ID |
543430 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwa3b
|
Ensembl Gene |
ENSMUSG00000050122 |
Gene Name |
von Willebrand factor A domain containing 3B |
Synonyms |
A230074B11Rik, 4921511C04Rik |
MMRRC Submission |
045017-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R6512 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
37068372-37226689 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 37102723 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125460
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027289]
[ENSMUST00000067178]
[ENSMUST00000117172]
[ENSMUST00000124404]
[ENSMUST00000162449]
|
AlphaFold |
A0A571BE33 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027289
|
SMART Domains |
Protein: ENSMUSP00000027289 Gene: ENSMUSG00000050122
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 benign
Transcript: ENSMUST00000067178
|
SMART Domains |
Protein: ENSMUSP00000069700 Gene: ENSMUSG00000050122
Domain | Start | End | E-Value | Type |
Blast:VWA
|
112 |
272 |
7e-16 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117172
|
SMART Domains |
Protein: ENSMUSP00000114022 Gene: ENSMUSG00000050122
Domain | Start | End | E-Value | Type |
Blast:VWA
|
112 |
272 |
7e-16 |
BLAST |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000124404
AA Change: T335A
|
SMART Domains |
Protein: ENSMUSP00000141690 Gene: ENSMUSG00000050122 AA Change: T335A
Domain | Start | End | E-Value | Type |
Blast:VWA
|
112 |
272 |
5e-16 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162449
|
SMART Domains |
Protein: ENSMUSP00000125460 Gene: ENSMUSG00000050122
Domain | Start | End | E-Value | Type |
Blast:VWA
|
112 |
272 |
7e-16 |
BLAST |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
All alleles(71) : Targeted(3) Gene trapped(68)
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700122O11Rik |
A |
G |
17: 48,347,672 (GRCm39) |
S211P |
possibly damaging |
Het |
Abcb11 |
T |
C |
2: 69,112,996 (GRCm39) |
T674A |
probably benign |
Het |
Acad11 |
G |
T |
9: 103,972,758 (GRCm39) |
E484* |
probably null |
Het |
Ankhd1 |
A |
T |
18: 36,724,509 (GRCm39) |
D389V |
probably damaging |
Het |
Asic4 |
T |
A |
1: 75,449,687 (GRCm39) |
L439* |
probably null |
Het |
Atp13a2 |
A |
G |
4: 140,730,529 (GRCm39) |
T808A |
probably damaging |
Het |
Capn13 |
C |
A |
17: 73,689,985 (GRCm39) |
V9L |
probably benign |
Het |
Chst11 |
A |
G |
10: 83,027,302 (GRCm39) |
Y243C |
probably damaging |
Het |
Ctdp1 |
A |
T |
18: 80,494,478 (GRCm39) |
W308R |
probably damaging |
Het |
Dnttip2 |
A |
G |
3: 122,069,172 (GRCm39) |
E129G |
possibly damaging |
Het |
Dock5 |
A |
G |
14: 68,062,097 (GRCm39) |
S424P |
possibly damaging |
Het |
Ebf1 |
C |
T |
11: 44,883,168 (GRCm39) |
H469Y |
probably damaging |
Het |
Efhc1 |
A |
T |
1: 21,030,573 (GRCm39) |
N169Y |
probably damaging |
Het |
Elmo1 |
T |
C |
13: 20,557,331 (GRCm39) |
L424P |
probably damaging |
Het |
Ighv1-59 |
A |
G |
12: 115,299,003 (GRCm39) |
V16A |
probably damaging |
Het |
Kcnc1 |
T |
G |
7: 46,076,821 (GRCm39) |
C208G |
probably damaging |
Het |
Kif13b |
A |
T |
14: 64,982,323 (GRCm39) |
|
probably null |
Het |
Lilra6 |
T |
A |
7: 3,917,387 (GRCm39) |
N203Y |
probably benign |
Het |
Mrtfa |
T |
C |
15: 80,897,917 (GRCm39) |
T787A |
probably benign |
Het |
Myh8 |
A |
T |
11: 67,180,488 (GRCm39) |
K575* |
probably null |
Het |
Nedd1 |
C |
T |
10: 92,527,737 (GRCm39) |
A486T |
probably benign |
Het |
Or2aj5 |
A |
T |
16: 19,425,109 (GRCm39) |
L103H |
probably damaging |
Het |
Phrf1 |
T |
C |
7: 140,840,309 (GRCm39) |
I1168T |
possibly damaging |
Het |
Pla2g12a |
T |
A |
3: 129,682,606 (GRCm39) |
H59Q |
probably benign |
Het |
Ralbp1 |
A |
G |
17: 66,168,270 (GRCm39) |
V345A |
probably damaging |
Het |
Ryr3 |
C |
T |
2: 112,697,723 (GRCm39) |
V894M |
possibly damaging |
Het |
Sec24b |
T |
A |
3: 129,834,946 (GRCm39) |
Y84F |
probably damaging |
Het |
Slc22a26 |
T |
C |
19: 7,779,865 (GRCm39) |
|
probably benign |
Het |
Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
Spats1 |
C |
T |
17: 45,763,599 (GRCm39) |
|
probably null |
Het |
Tbk1 |
T |
A |
10: 121,414,526 (GRCm39) |
N63Y |
probably damaging |
Het |
Tbl1xr1 |
C |
T |
3: 22,194,698 (GRCm39) |
|
probably benign |
Het |
Top2b |
T |
A |
14: 16,409,854 (GRCm38) |
D840E |
possibly damaging |
Het |
Trpc3 |
T |
A |
3: 36,716,907 (GRCm39) |
Y377F |
possibly damaging |
Het |
Uba6 |
C |
T |
5: 86,272,262 (GRCm39) |
R778K |
probably benign |
Het |
Vmn2r101 |
A |
T |
17: 19,809,146 (GRCm39) |
I92F |
probably damaging |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Vmn2r70 |
G |
T |
7: 85,215,305 (GRCm39) |
F76L |
probably benign |
Het |
Zfp407 |
T |
A |
18: 84,578,474 (GRCm39) |
T880S |
probably damaging |
Het |
Zfp64 |
C |
A |
2: 168,735,997 (GRCm39) |
G560V |
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 |
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 |
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'- CATGCCTTTGCTGAGAGAACAG -3'
(R):5'- CTTGGACCTAACTAACCCCAGG -3'
Sequencing Primer
(F):5'- ACAGAGTGTGAGGAATTCTCTGC -3'
(R):5'- CCCCAGGAATAGCATGGCTAG -3'
|
Posted On |
2018-12-11 |