Mutagenetix > Incidental Mutation

Incidental Mutation 'R6191:Vwa3b'

502529

Institutional Source

Beutler Lab

Gene Symbol

Vwa3b

Ensembl Gene

ENSMUSG00000050122

Gene Name

von Willebrand factor A domain containing 3B

Synonyms

A230074B11Rik, 4921511C04Rik

MMRRC Submission

044331-MU

Accession Numbers

Essential gene?

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

Stock #

R6191 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37068372-37226689 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37153612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 485 (I485V)

Ref Sequence

ENSEMBL: ENSMUSP00000027289 (fasta)

Gene Model

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

AlphaFold

A0A571BE33

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027289
AA Change: I485V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027289
Gene: ENSMUSG00000050122
AA Change: I485V

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

0.1617

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (84/85)

Allele List at MGI

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

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	C	9: 55,909,807 (GRCm39)	D144E	possibly damaging	Het
Amigo2	T	A	15: 97,143,419 (GRCm39)	K334N	probably benign	Het
Ano6	T	C	15: 95,846,380 (GRCm39)		probably null	Het
Ap1m2	C	A	9: 21,210,601 (GRCm39)	V343F	probably benign	Het
Apol6	T	C	15: 76,940,098 (GRCm39)	V307A	probably benign	Het
Arsi	C	A	18: 61,045,544 (GRCm39)	A78E	probably damaging	Het
B2m	A	T	2: 121,981,396 (GRCm39)	N37I	possibly damaging	Het
Bltp3b	G	T	10: 89,641,180 (GRCm39)	G784C	possibly damaging	Het
C8a	T	C	4: 104,703,100 (GRCm39)	K363R	probably benign	Het
Ccdc117	C	A	11: 5,484,242 (GRCm39)		probably null	Het
Ccdc154	C	A	17: 25,386,945 (GRCm39)	Q325K	probably damaging	Het
Cd300e	A	T	11: 114,945,359 (GRCm39)	V145E	possibly damaging	Het
Col19a1	G	T	1: 24,356,474 (GRCm39)	P673Q	probably damaging	Het
Csn2	A	G	5: 87,843,885 (GRCm39)		probably null	Het
Ctnna1	T	C	18: 35,307,408 (GRCm39)	V135A	probably damaging	Het
Dnah11	T	A	12: 118,154,632 (GRCm39)	D216V	probably benign	Het
Dnah12	A	G	14: 26,431,412 (GRCm39)	H410R	probably benign	Het
Dock2	C	T	11: 34,181,652 (GRCm39)	R1637H	possibly damaging	Het
Dspp	A	G	5: 104,325,214 (GRCm39)	N526D	unknown	Het
Frem2	T	C	3: 53,562,701 (GRCm39)	H602R	probably benign	Het
Galc	A	T	12: 98,218,293 (GRCm39)	H186Q	probably damaging	Het
Grina	T	C	15: 76,133,218 (GRCm39)	V262A	probably damaging	Het
Gse1	G	A	8: 121,280,542 (GRCm39)		probably null	Het
H2-Oa	C	A	17: 34,312,842 (GRCm39)	Q40K	probably damaging	Het
Hfm1	C	A	5: 107,034,419 (GRCm39)	D763Y	possibly damaging	Het
Hmcn2	T	A	2: 31,348,758 (GRCm39)	Y4925N	probably damaging	Het
Hs3st3b1	C	A	11: 63,780,029 (GRCm39)	R366L	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Iqank1	T	C	15: 75,918,218 (GRCm39)		probably null	Het
Itpr2	A	G	6: 146,229,833 (GRCm39)	V1221A	probably benign	Het
Kdm6b	T	C	11: 69,297,584 (GRCm39)	N285S	probably benign	Het
Klk1b1	T	A	7: 43,620,081 (GRCm39)	N181K	probably damaging	Het
Kmt2a	C	A	9: 44,738,125 (GRCm39)		probably benign	Het
Lama5	T	C	2: 179,827,752 (GRCm39)	D2170G	probably damaging	Het
Lama5	T	A	2: 179,822,404 (GRCm39)	T2890S	probably damaging	Het
Lsm2	T	A	17: 35,201,131 (GRCm39)		probably benign	Het
Map3k5	G	T	10: 19,899,415 (GRCm39)	C232F	probably damaging	Het
Mapk9	T	G	11: 49,754,383 (GRCm39)	D45E	probably damaging	Het
Mpnd	T	C	17: 56,319,482 (GRCm39)	V315A	possibly damaging	Het
Msh2	A	G	17: 88,030,900 (GRCm39)	I926V	probably benign	Het
Mtcl1	C	T	17: 66,650,521 (GRCm39)	R1345H	probably damaging	Het
Nbeal2	A	G	9: 110,457,058 (GRCm39)		probably null	Het
Neo1	T	C	9: 58,796,312 (GRCm39)	D1205G	probably damaging	Het
Nhlrc2	A	G	19: 56,559,291 (GRCm39)	S259G	probably benign	Het
Nkain4	G	A	2: 180,577,796 (GRCm39)	P186L	probably damaging	Het
Nkain4	G	A	2: 180,577,797 (GRCm39)	P186S	probably damaging	Het
Nlrp1b	T	A	11: 71,109,283 (GRCm39)	R73*	probably null	Het
Nr5a2	T	C	1: 136,818,536 (GRCm39)	D330G	probably damaging	Het
Nup54	A	G	5: 92,572,153 (GRCm39)	L299P	probably damaging	Het
Or2v1	T	C	11: 49,025,877 (GRCm39)	L286P	probably damaging	Het
Or5aq7	A	G	2: 86,938,296 (GRCm39)	V145A	probably damaging	Het
Pcdhb8	T	A	18: 37,489,279 (GRCm39)	V319E	probably benign	Het
Pcsk6	T	A	7: 65,578,875 (GRCm39)	D129E	probably benign	Het
Pld5	G	A	1: 175,798,100 (GRCm39)	T433I	probably benign	Het
Plin1	A	T	7: 79,371,347 (GRCm39)	L459H	probably benign	Het
Psd4	T	C	2: 24,284,499 (GRCm39)	V121A	probably damaging	Het
Pxdn	A	T	12: 30,032,716 (GRCm39)	I167F	possibly damaging	Het
R3hdm2	T	C	10: 127,320,384 (GRCm39)	S569P	probably damaging	Het
Rfng	T	A	11: 120,673,516 (GRCm39)	T202S	probably damaging	Het
Robo1	T	C	16: 72,730,696 (GRCm39)	S266P	probably benign	Het
Sema3c	G	T	5: 17,858,804 (GRCm39)	V68L	probably damaging	Het
Slco6c1	C	T	1: 96,993,808 (GRCm39)	R645H	possibly damaging	Het
Slfn8	A	G	11: 82,907,626 (GRCm39)	Y306H	possibly damaging	Het
Snap91	T	C	9: 86,720,105 (GRCm39)	D144G	probably damaging	Het
St7l	T	G	3: 104,775,349 (GRCm39)	F75C	probably damaging	Het
Stard10	A	G	7: 100,992,468 (GRCm39)	I145V	probably damaging	Het
Tekt3	C	T	11: 62,968,999 (GRCm39)	A242V	probably damaging	Het
Tex44	A	G	1: 86,354,306 (GRCm39)		probably benign	Het
Thg1l	T	C	11: 45,844,988 (GRCm39)	Q88R	probably benign	Het
Trav8n-2	T	A	14: 53,583,744 (GRCm39)	I67N	probably damaging	Het
Ttn	G	A	2: 76,677,770 (GRCm39)		probably benign	Het
Ube4a	A	T	9: 44,861,051 (GRCm39)	L253*	probably null	Het
Uggt1	A	T	1: 36,201,289 (GRCm39)	N1150K	probably damaging	Het
Ush2a	T	A	1: 187,995,298 (GRCm39)	L23*	probably null	Het
Usp22	T	A	11: 61,065,602 (GRCm39)	N37I	probably benign	Het
Usp53	T	A	3: 122,743,390 (GRCm39)	K515N	probably damaging	Het
Vmn2r4	T	C	3: 64,322,702 (GRCm39)	K6E	probably benign	Het
Vps13d	C	T	4: 144,875,918 (GRCm39)	V1530M	probably damaging	Het
Wnk4	T	C	11: 101,155,156 (GRCm39)	Y356H	probably damaging	Het
Zcchc2	A	G	1: 105,917,900 (GRCm39)		probably benign	Het
Zfp345	A	C	2: 150,315,010 (GRCm39)	Y176D	probably benign	Het
Zfp598	T	C	17: 24,896,850 (GRCm39)	F238S	possibly damaging	Het
Zkscan17	T	C	11: 59,393,820 (GRCm39)	D10G	probably damaging	Het
Zmat4	T	G	8: 24,392,083 (GRCm39)	M13R	probably damaging	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
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'- AAGACCTGGTATACACCCTGTTG -3'
(R):5'- CTTCAGGTAGAAAGTATGGACATGC -3'

Sequencing Primer
(F):5'- GGTATACACCCTGTTGCAGATGC -3'
(R):5'- GGACATGCAACTTAAGTGATCC -3'

Posted On

2018-02-27