Incidental Mutation 'R6250:Vwa3b'
ID |
505889 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwa3b
|
Ensembl Gene |
ENSMUSG00000050122 |
Gene Name |
von Willebrand factor A domain containing 3B |
Synonyms |
A230074B11Rik, 4921511C04Rik |
MMRRC Submission |
044367-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R6250 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
37068372-37226689 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to C
at 37090966 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 null
Transcript: ENSMUST00000067178
|
SMART Domains |
Protein: ENSMUSP00000069700 Gene: ENSMUSG00000050122
Domain | Start | End | E-Value | Type |
Blast:VWA
|
112 |
272 |
7e-16 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000117172
|
SMART Domains |
Protein: ENSMUSP00000114022 Gene: ENSMUSG00000050122
Domain | Start | End | E-Value | Type |
Blast:VWA
|
112 |
272 |
7e-16 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124404
|
SMART Domains |
Protein: ENSMUSP00000141690 Gene: ENSMUSG00000050122
Domain | Start | End | E-Value | Type |
Blast:VWA
|
112 |
272 |
5e-16 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000162449
|
SMART Domains |
Protein: ENSMUSP00000125460 Gene: ENSMUSG00000050122
Domain | Start | End | E-Value | Type |
Blast:VWA
|
112 |
272 |
7e-16 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
Validation Efficiency |
98% (60/61) |
Allele List at MGI |
All alleles(71) : Targeted(3) Gene trapped(68)
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12 |
T |
C |
2: 150,681,667 (GRCm39) |
Y241C |
probably damaging |
Het |
Ak9 |
T |
C |
10: 41,265,030 (GRCm39) |
V929A |
possibly damaging |
Het |
Ap3s1 |
T |
C |
18: 46,887,514 (GRCm39) |
F49S |
probably damaging |
Het |
Atp9b |
T |
C |
18: 80,799,736 (GRCm39) |
H801R |
probably benign |
Het |
B430218F22Rik |
A |
G |
13: 118,523,944 (GRCm39) |
|
probably benign |
Het |
Ccnd3 |
T |
A |
17: 47,908,487 (GRCm39) |
L186* |
probably null |
Het |
Cnbd1 |
T |
A |
4: 19,098,255 (GRCm39) |
Q55L |
probably benign |
Het |
Commd10 |
A |
G |
18: 47,096,755 (GRCm39) |
E54G |
probably damaging |
Het |
Cplx3 |
A |
G |
9: 57,522,907 (GRCm39) |
V151A |
probably benign |
Het |
D6Ertd527e |
G |
A |
6: 87,088,194 (GRCm39) |
G119D |
unknown |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Disp2 |
A |
T |
2: 118,621,247 (GRCm39) |
I660F |
probably damaging |
Het |
Eef1a2 |
A |
G |
2: 180,792,853 (GRCm39) |
F211L |
possibly damaging |
Het |
Epb41 |
A |
T |
4: 131,717,184 (GRCm39) |
F323L |
probably damaging |
Het |
Eps8l3 |
A |
T |
3: 107,797,781 (GRCm39) |
I403F |
probably benign |
Het |
Ercc5 |
T |
A |
1: 44,203,209 (GRCm39) |
V282D |
probably damaging |
Het |
Faim |
A |
T |
9: 98,874,176 (GRCm39) |
M1L |
probably benign |
Het |
Fbxo24 |
A |
G |
5: 137,619,543 (GRCm39) |
F111L |
probably damaging |
Het |
Fcgbpl1 |
G |
A |
7: 27,850,139 (GRCm39) |
G1195D |
probably damaging |
Het |
Glrx |
A |
T |
13: 75,988,229 (GRCm39) |
I48F |
probably damaging |
Het |
Gucy2g |
A |
T |
19: 55,205,856 (GRCm39) |
L668Q |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,477,561 (GRCm39) |
D2828G |
possibly damaging |
Het |
Hivep2 |
T |
C |
10: 14,007,503 (GRCm39) |
V1367A |
probably benign |
Het |
Hrob |
A |
G |
11: 102,145,888 (GRCm39) |
T55A |
probably benign |
Het |
Ipo13 |
A |
G |
4: 117,769,351 (GRCm39) |
V147A |
possibly damaging |
Het |
Jchain |
T |
C |
5: 88,674,034 (GRCm39) |
T37A |
probably benign |
Het |
Kif1b |
A |
G |
4: 149,298,100 (GRCm39) |
V1034A |
probably benign |
Het |
Krt25 |
T |
A |
11: 99,211,989 (GRCm39) |
N216I |
probably damaging |
Het |
Mfsd4b1 |
T |
C |
10: 39,879,106 (GRCm39) |
S264G |
possibly damaging |
Het |
Mxra8 |
G |
T |
4: 155,925,546 (GRCm39) |
R82L |
possibly damaging |
Het |
Nlrp1b |
A |
T |
11: 71,072,625 (GRCm39) |
I406N |
probably benign |
Het |
Or13c7 |
T |
C |
4: 43,854,363 (GRCm39) |
L18P |
possibly damaging |
Het |
Or2y11 |
A |
T |
11: 49,442,711 (GRCm39) |
I46F |
probably damaging |
Het |
Or5h23 |
G |
A |
16: 58,906,195 (GRCm39) |
S217F |
probably damaging |
Het |
Pak5 |
T |
C |
2: 136,016,189 (GRCm39) |
|
probably benign |
Het |
Pcsk4 |
T |
C |
10: 80,161,426 (GRCm39) |
R222G |
probably benign |
Het |
Pik3cb |
A |
C |
9: 98,976,651 (GRCm39) |
F149V |
probably benign |
Het |
Plscr4 |
G |
A |
9: 92,366,881 (GRCm39) |
R165Q |
possibly damaging |
Het |
Ppp2r2a |
A |
T |
14: 67,276,403 (GRCm39) |
V34E |
probably damaging |
Het |
Prpf8 |
T |
G |
11: 75,384,334 (GRCm39) |
S659R |
possibly damaging |
Het |
Ptprd |
A |
G |
4: 76,047,232 (GRCm39) |
S342P |
probably damaging |
Het |
Pum2 |
T |
C |
12: 8,794,755 (GRCm39) |
|
probably null |
Het |
Ranbp3 |
T |
G |
17: 56,984,208 (GRCm39) |
|
probably null |
Het |
Rassf7 |
A |
G |
7: 140,797,156 (GRCm39) |
E123G |
probably damaging |
Het |
Rcor1 |
G |
T |
12: 111,078,311 (GRCm39) |
A469S |
probably benign |
Het |
Rcor3 |
G |
T |
1: 191,785,196 (GRCm39) |
P524Q |
probably damaging |
Het |
Rnf44 |
A |
T |
13: 54,829,920 (GRCm39) |
|
probably null |
Het |
Rtf1 |
T |
C |
2: 119,505,658 (GRCm39) |
V37A |
unknown |
Het |
Sdc4 |
A |
T |
2: 164,273,138 (GRCm39) |
D57E |
probably damaging |
Het |
Setbp1 |
T |
C |
18: 78,901,217 (GRCm39) |
T817A |
probably benign |
Het |
Setd1a |
A |
G |
7: 127,390,471 (GRCm39) |
E506G |
unknown |
Het |
Slc30a8 |
G |
A |
15: 52,198,545 (GRCm39) |
R330Q |
probably benign |
Het |
Snx22 |
C |
A |
9: 65,976,923 (GRCm39) |
E14* |
probably null |
Het |
Spata31d1a |
A |
G |
13: 59,849,615 (GRCm39) |
S838P |
possibly damaging |
Het |
Sprr4 |
G |
T |
3: 92,407,770 (GRCm39) |
Q11K |
unknown |
Het |
Trpm3 |
A |
G |
19: 22,887,418 (GRCm39) |
N839S |
probably benign |
Het |
Vps9d1 |
T |
C |
8: 123,974,947 (GRCm39) |
|
probably null |
Het |
Ythdf1 |
T |
C |
2: 180,552,893 (GRCm39) |
T414A |
probably damaging |
Het |
Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
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 |
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'- CTTTCAGGGTTTCCGCAGAG -3'
(R):5'- TAAACAGGATTATGCTTTGGGGAC -3'
Sequencing Primer
(F):5'- CCGCAGAGCCGGTGAAATG -3'
(R):5'- CCACTATGATGACTGTAACCTGG -3'
|
Posted On |
2018-02-28 |