Mutagenetix > Incidental Mutation

Incidental Mutation 'R4897:Vwa3b'

375783

Institutional Source

Beutler Lab

Gene Symbol

Vwa3b

Ensembl Gene

ENSMUSG00000050122

Gene Name

von Willebrand factor A domain containing 3B

Synonyms

A230074B11Rik, 4921511C04Rik

MMRRC Submission

042501-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R4897 (G1)

Quality Score

193

Status

Validated

Chromosome

Chromosomal Location

37068372-37226689 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 37153684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027289]

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

noncoding transcript
Transcript: ENSMUST00000194048

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (79/79)

Allele List at MGI

All alleles(71) : Targeted(3) Gene trapped(68)

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	C	A	2: 35,266,309 (GRCm39)	M120I	probably damaging	Het
4933427D14Rik	A	T	11: 72,082,342 (GRCm39)	L328Q	probably damaging	Het
Adgrv1	A	C	13: 81,709,704 (GRCm39)		probably null	Het
Ankrd46	A	T	15: 36,484,279 (GRCm39)		probably benign	Het
Arhgef18	A	T	8: 3,494,979 (GRCm39)	M413L	probably benign	Het
Atp6v1e1	G	A	6: 120,781,044 (GRCm39)	T87M	probably null	Het
Bap1	T	C	14: 30,980,402 (GRCm39)		probably benign	Het
Brf1	A	G	12: 112,929,507 (GRCm39)	L385P	probably benign	Het
C1qtnf1	A	T	11: 118,338,938 (GRCm39)	N203Y	probably damaging	Het
Catsperb	A	T	12: 101,569,025 (GRCm39)	N899I	probably damaging	Het
Ccnjl	A	C	11: 43,470,718 (GRCm39)	D162A	probably damaging	Het
Cd248	A	C	19: 5,119,195 (GRCm39)	I348L	probably benign	Het
Cdc20	T	C	4: 118,293,029 (GRCm39)	T265A	probably benign	Het
Cdca5	T	A	19: 6,140,427 (GRCm39)	L196*	probably null	Het
Cdk4	T	A	10: 126,900,444 (GRCm39)		probably benign	Het
Cldn10	G	A	14: 119,025,725 (GRCm39)	G53S	possibly damaging	Het
Clec4b2	G	T	6: 123,177,999 (GRCm39)	E105*	probably null	Het
Dapk1	T	A	13: 60,909,600 (GRCm39)	D1404E	probably benign	Het
Dnah1	T	C	14: 30,989,496 (GRCm39)	Y3308C	probably damaging	Het
Dnah17	A	C	11: 117,969,419 (GRCm39)	Y2260D	probably damaging	Het
Dock8	T	G	19: 25,159,001 (GRCm39)	S1720A	probably benign	Het
Erc1	A	G	6: 119,754,947 (GRCm39)		probably null	Het
Ergic1	A	G	17: 26,848,597 (GRCm39)	I66V	probably benign	Het
Fam186a	T	C	15: 99,843,158 (GRCm39)	T1029A	possibly damaging	Het
Fat4	A	T	3: 39,034,781 (GRCm39)	Y2811F	probably damaging	Het
Flt3	A	G	5: 147,306,110 (GRCm39)	M310T	probably damaging	Het
Ganab	T	A	19: 8,892,355 (GRCm39)	C844S	probably benign	Het
Gas2l2	C	A	11: 83,320,041 (GRCm39)	V72F	probably damaging	Het
Gm14401	T	A	2: 176,778,573 (GRCm39)	C220S	probably damaging	Het
Hmmr	A	T	11: 40,619,261 (GRCm39)	V73E	probably benign	Het
Idi2l	T	G	13: 8,990,637 (GRCm39)		probably benign	Het
Ifih1	G	T	2: 62,465,358 (GRCm39)		probably benign	Het
Jak3	A	G	8: 72,138,048 (GRCm39)	E833G	probably damaging	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Ldb1	G	A	19: 46,023,132 (GRCm39)	A217V	probably benign	Het
Lrrc8c	A	G	5: 105,755,955 (GRCm39)	T577A	probably benign	Het
Mfn1	T	A	3: 32,600,711 (GRCm39)		probably benign	Het
Mki67	G	A	7: 135,298,474 (GRCm39)	P2187S	probably damaging	Het
Mrc1	T	A	2: 14,323,952 (GRCm39)	D1096E	probably benign	Het
Msi1	A	G	5: 115,573,654 (GRCm39)		probably benign	Het
Msto1	T	A	3: 88,819,559 (GRCm39)	I152F	probably benign	Het
Myo9a	A	G	9: 59,803,800 (GRCm39)	R2060G	probably benign	Het
Nnt	A	T	13: 119,541,107 (GRCm39)	C44*	probably null	Het
Nup210l	A	G	3: 90,100,378 (GRCm39)	D1468G	probably damaging	Het
Or1j16	T	C	2: 36,530,906 (GRCm39)	L285P	probably damaging	Het
Or4c10b	A	G	2: 89,711,476 (GRCm39)	E102G	probably benign	Het
Or5d46	C	A	2: 88,174,686 (GRCm39)	C129F	possibly damaging	Het
Or7a40	T	C	16: 16,491,482 (GRCm39)	D121G	probably damaging	Het
P2rx3	G	A	2: 84,855,270 (GRCm39)	T62I	probably damaging	Het
Pabpc4l	G	T	3: 46,401,578 (GRCm39)	T22K	probably damaging	Het
Pcdha7	A	G	18: 37,108,646 (GRCm39)	D557G	probably damaging	Het
Pcdhb20	A	G	18: 37,639,298 (GRCm39)	K608R	possibly damaging	Het
Pcnx1	A	G	12: 81,964,939 (GRCm39)	S369G	probably damaging	Het
Plod1	T	C	4: 148,004,736 (GRCm39)	I455V	probably benign	Het
Prune2	A	T	19: 17,099,219 (GRCm39)	E1574D	probably benign	Het
Ptar1	T	A	19: 23,680,472 (GRCm39)	L96H	probably damaging	Het
Rabgap1	T	C	2: 37,450,583 (GRCm39)	S904P	probably benign	Het
Rps6ka4	C	T	19: 6,815,467 (GRCm39)	V176I	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Runx1t1	T	A	4: 13,771,459 (GRCm39)	M1K	probably null	Het
Serinc4	T	A	2: 121,282,905 (GRCm39)	Y419F	probably damaging	Het
Serpina12	A	T	12: 104,004,056 (GRCm39)	M192K	possibly damaging	Het
Spata21	T	A	4: 140,832,261 (GRCm39)	M474K	probably damaging	Het
Stpg1	T	C	4: 135,246,676 (GRCm39)	S135P	possibly damaging	Het
Tdrkh	A	G	3: 94,336,671 (GRCm39)	D481G	probably damaging	Het
Ube2e1	A	C	14: 18,285,268 (GRCm38)	S68R	probably damaging	Het
Vcpip1	A	C	1: 9,817,572 (GRCm39)	N270K	probably damaging	Het
Vmn2r79	T	C	7: 86,650,675 (GRCm39)	F154L	probably benign	Het
Xdh	C	A	17: 74,207,703 (GRCm39)	V885L	probably benign	Het
Zfp141	A	T	7: 42,125,629 (GRCm39)	V281D	probably benign	Het
Zfp317	T	A	9: 19,558,143 (GRCm39)	I119N	probably benign	Het
Zfp345	G	A	2: 150,314,608 (GRCm39)	R310C	probably benign	Het
Zfp760	G	A	17: 21,942,229 (GRCm39)	C468Y	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
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'- ACAGACTCTGTTTACTATGATGCC -3'
(R):5'- GGGCCAGTTCACACAGTTTC -3'

Sequencing Primer
(F):5'- ATGATGCCTTTTTCCTGTCTAGG -3'
(R):5'- GCCAGTTCACACAGTTTCACTAATTG -3'

Posted On

2016-03-17