Mutagenetix > Incidental Mutation

Incidental Mutation 'R9273:Vwa5b1'

703078

Institutional Source

Beutler Lab

Gene Symbol

Vwa5b1

Ensembl Gene

ENSMUSG00000028753

Gene Name

von Willebrand factor A domain containing 5B1

Synonyms

4931403E03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9273 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138292671-138363195 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138316005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 579 (D579G)

Ref Sequence

ENSEMBL: ENSMUSP00000030533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030533] [ENSMUST00000105812]

AlphaFold

A9Z1V5

Predicted Effect

probably damaging
Transcript: ENSMUST00000030533
AA Change: D579G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030533
Gene: ENSMUSG00000028753
AA Change: D579G

Domain	Start	End	E-Value	Type
Pfam:VIT_2	2	79	2e-28	PFAM
Pfam:VIT	15	138	1.5e-7	PFAM
VWA	351	513	6.04e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105812

SMART Domains

Protein: ENSMUSP00000101438
Gene: ENSMUSG00000028753

Domain	Start	End	E-Value	Type
Pfam:VIT_2	16	93	1.9e-30	PFAM
Pfam:VIT	29	103	2.1e-7	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,033,232 (GRCm39)	D728G	probably benign	Het
Adig	A	T	2: 158,347,727 (GRCm39)	D48V	probably damaging	Het
Adig	A	C	2: 158,349,890 (GRCm39)	*57S	probably null	Het
Amigo3	A	G	9: 107,932,020 (GRCm39)	D481G	probably damaging	Het
Atf6b	T	A	17: 34,872,968 (GRCm39)	M628K	probably damaging	Het
Atoh8	A	G	6: 72,212,129 (GRCm39)	L7P	probably damaging	Het
Bcl9	A	G	3: 97,115,959 (GRCm39)	S912P	probably damaging	Het
Card9	T	A	2: 26,247,310 (GRCm39)	I280F	probably damaging	Het
Ccr9	A	G	9: 123,609,085 (GRCm39)	T256A	probably benign	Het
Cd300lg	T	C	11: 101,939,590 (GRCm39)	I306T	probably damaging	Het
Cfap65	T	A	1: 74,960,769 (GRCm39)	M734L	probably benign	Het
Cobll1	A	G	2: 64,929,356 (GRCm39)	S657P	probably damaging	Het
Comp	A	G	8: 70,831,285 (GRCm39)	N384S	probably damaging	Het
Cps1	T	A	1: 67,191,445 (GRCm39)	V209D	possibly damaging	Het
Cwc22	A	T	2: 77,759,803 (GRCm39)	D81E	possibly damaging	Het
D630045J12Rik	G	A	6: 38,167,512 (GRCm39)	P1030L	possibly damaging	Het
Dcn	A	G	10: 97,343,637 (GRCm39)	Y199C	probably damaging	Het
Exosc3	A	T	4: 45,316,969 (GRCm39)	I228N	probably damaging	Het
Fbxo10	T	C	4: 45,062,178 (GRCm39)	H116R	probably benign	Het
Fbxo21	T	A	5: 118,146,108 (GRCm39)	I577N	probably damaging	Het
Flnc	A	T	6: 29,447,815 (GRCm39)	Q1206L	probably benign	Het
Fubp3	T	C	2: 31,503,056 (GRCm39)	F480L	probably benign	Het
Fzd5	T	C	1: 64,775,110 (GRCm39)	N217S	possibly damaging	Het
Garem1	G	A	18: 21,281,274 (GRCm39)	R361C	probably damaging	Het
Gcg	T	C	2: 62,306,133 (GRCm39)	M155V	probably null	Het
Gm7298	G	A	6: 121,756,604 (GRCm39)		probably benign	Het
Gpr160	T	A	3: 30,950,038 (GRCm39)	L37I	probably benign	Het
Grik1	G	A	16: 87,848,379 (GRCm39)	H130Y		Het
Hydin	T	A	8: 111,233,580 (GRCm39)	I1806N	probably damaging	Het
Isl1	A	T	13: 116,444,902 (GRCm39)	C42*	probably null	Het
Itpr2	T	C	6: 146,226,529 (GRCm39)	D1405G	probably damaging	Het
Kat6b	A	G	14: 21,711,551 (GRCm39)	N682D	probably benign	Het
Kcnh6	C	G	11: 105,924,860 (GRCm39)	H941Q	possibly damaging	Het
Kprp	A	C	3: 92,733,000 (GRCm39)	C17G	probably damaging	Het
Lsm14a	T	C	7: 34,088,225 (GRCm39)		probably benign	Het
Mrgpra2a	G	T	7: 47,076,307 (GRCm39)	T317K	probably benign	Het
Myh11	A	G	16: 14,054,283 (GRCm39)	V360A		Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Oaf	G	A	9: 43,133,966 (GRCm39)	P252S	probably benign	Het
Obox2	T	G	7: 15,131,290 (GRCm39)	V132G	unknown	Het
Or51v8	T	A	7: 103,319,633 (GRCm39)	T202S	probably benign	Het
Or52b1	A	G	7: 104,978,646 (GRCm39)	L251P	probably damaging	Het
Or5b109	C	T	19: 13,212,268 (GRCm39)	S218L	probably damaging	Het
Or5b12	T	C	19: 12,897,446 (GRCm39)	T76A	possibly damaging	Het
Pld2	T	A	11: 70,448,234 (GRCm39)	S894T	probably benign	Het
Plxna1	G	T	6: 89,296,364 (GRCm39)	S1893R	possibly damaging	Het
Prkd1	T	C	12: 50,472,232 (GRCm39)	E227G	possibly damaging	Het
Prox1	T	C	1: 189,893,242 (GRCm39)	N401S	possibly damaging	Het
Prune2	T	C	19: 17,095,690 (GRCm39)	V398A	possibly damaging	Het
Rasgef1a	A	G	6: 118,063,223 (GRCm39)	N285D	probably benign	Het
Rbbp5	A	G	1: 132,420,304 (GRCm39)	K179R	probably benign	Het
Rp9	G	A	9: 22,379,573 (GRCm39)		probably benign	Het
Slc15a2	A	G	16: 36,574,090 (GRCm39)	F588L	probably benign	Het
Sptan1	T	A	2: 29,880,977 (GRCm39)	D415E	possibly damaging	Het
Syne1	T	C	10: 4,990,901 (GRCm39)	K593E	probably benign	Het
Tab1	A	G	15: 80,041,904 (GRCm39)	T341A	probably benign	Het
Tmc4	T	C	7: 3,670,552 (GRCm39)	E513G	probably damaging	Het
Tmem131l	A	C	3: 83,848,244 (GRCm39)	V302G	probably damaging	Het
Tnip1	G	A	11: 54,807,783 (GRCm39)	H553Y	possibly damaging	Het
Tns2	C	T	15: 102,021,478 (GRCm39)	P1048S	probably damaging	Het
Twsg1	C	T	17: 66,233,306 (GRCm39)	V215I	probably damaging	Het
Txnl1	G	A	18: 63,825,325 (GRCm39)		probably benign	Het
Unc13c	A	G	9: 73,839,862 (GRCm39)	Y330H	possibly damaging	Het
Utrn	A	T	10: 12,509,707 (GRCm39)	W2422R	probably damaging	Het
Vmn2r112	T	A	17: 22,837,721 (GRCm39)	D727E	probably damaging	Het
Vmn2r59	G	T	7: 41,695,286 (GRCm39)	C375*	probably null	Het
Vopp1	G	T	6: 57,731,575 (GRCm39)	Q139K	possibly damaging	Het
Wdr6	A	G	9: 108,450,691 (GRCm39)	Y971H	probably benign	Het
Zfp354c	A	G	11: 50,706,059 (GRCm39)	F339L	probably damaging	Het
Zfyve26	A	G	12: 79,317,610 (GRCm39)		probably null	Het

Other mutations in Vwa5b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01952:Vwa5b1	APN	4	138,308,528 (GRCm39)	missense	probably benign	0.08
IGL02133:Vwa5b1	APN	4	138,313,868 (GRCm39)	critical splice donor site	probably null
IGL02379:Vwa5b1	APN	4	138,340,170 (GRCm39)	missense	probably damaging	1.00
IGL02671:Vwa5b1	APN	4	138,296,437 (GRCm39)	nonsense	probably null
IGL02864:Vwa5b1	APN	4	138,336,286 (GRCm39)	missense	probably benign	0.00
IGL03076:Vwa5b1	APN	4	138,327,499 (GRCm39)	missense	probably damaging	1.00
IGL03115:Vwa5b1	APN	4	138,327,460 (GRCm39)	missense	possibly damaging	0.93
IGL03119:Vwa5b1	APN	4	138,333,852 (GRCm39)	missense	probably benign	0.01
PIT4283001:Vwa5b1	UTSW	4	138,327,574 (GRCm39)	missense	probably damaging	1.00
R0114:Vwa5b1	UTSW	4	138,336,169 (GRCm39)	nonsense	probably null
R0157:Vwa5b1	UTSW	4	138,332,190 (GRCm39)	missense	probably benign	0.00
R0528:Vwa5b1	UTSW	4	138,321,662 (GRCm39)	missense	probably damaging	1.00
R0562:Vwa5b1	UTSW	4	138,363,022 (GRCm39)	splice site	probably benign
R0718:Vwa5b1	UTSW	4	138,336,135 (GRCm39)	missense	probably damaging	1.00
R1555:Vwa5b1	UTSW	4	138,332,788 (GRCm39)	missense	probably benign	0.02
R1573:Vwa5b1	UTSW	4	138,332,184 (GRCm39)	missense	probably damaging	1.00
R1857:Vwa5b1	UTSW	4	138,296,413 (GRCm39)	missense	probably damaging	1.00
R1883:Vwa5b1	UTSW	4	138,302,700 (GRCm39)	missense	probably damaging	0.96
R1906:Vwa5b1	UTSW	4	138,327,547 (GRCm39)	missense	possibly damaging	0.93
R1913:Vwa5b1	UTSW	4	138,319,331 (GRCm39)	nonsense	probably null
R2121:Vwa5b1	UTSW	4	138,315,880 (GRCm39)	missense	probably benign	0.00
R2213:Vwa5b1	UTSW	4	138,332,123 (GRCm39)	missense	probably benign	0.00
R2355:Vwa5b1	UTSW	4	138,319,221 (GRCm39)	critical splice donor site	probably null
R2655:Vwa5b1	UTSW	4	138,321,614 (GRCm39)	missense	probably damaging	1.00
R4134:Vwa5b1	UTSW	4	138,321,641 (GRCm39)	missense	possibly damaging	0.69
R4135:Vwa5b1	UTSW	4	138,321,641 (GRCm39)	missense	possibly damaging	0.69
R4635:Vwa5b1	UTSW	4	138,338,150 (GRCm39)	missense	possibly damaging	0.82
R4773:Vwa5b1	UTSW	4	138,309,066 (GRCm39)	missense	probably benign	0.01
R4832:Vwa5b1	UTSW	4	138,332,851 (GRCm39)	missense	probably damaging	1.00
R4906:Vwa5b1	UTSW	4	138,338,058 (GRCm39)	missense	probably benign	0.03
R4916:Vwa5b1	UTSW	4	138,321,573 (GRCm39)	missense	possibly damaging	0.81
R4995:Vwa5b1	UTSW	4	138,336,154 (GRCm39)	missense	probably damaging	1.00
R5573:Vwa5b1	UTSW	4	138,336,201 (GRCm39)	missense	probably damaging	1.00
R5872:Vwa5b1	UTSW	4	138,305,962 (GRCm39)	missense	possibly damaging	0.63
R6255:Vwa5b1	UTSW	4	138,305,983 (GRCm39)	missense	probably benign	0.00
R6811:Vwa5b1	UTSW	4	138,319,414 (GRCm39)	missense	probably benign	0.00
R6901:Vwa5b1	UTSW	4	138,313,880 (GRCm39)	missense	probably benign
R7144:Vwa5b1	UTSW	4	138,332,742 (GRCm39)	critical splice donor site	probably null
R7146:Vwa5b1	UTSW	4	138,308,923 (GRCm39)	missense	probably benign	0.00
R7159:Vwa5b1	UTSW	4	138,302,733 (GRCm39)	missense	possibly damaging	0.56
R7362:Vwa5b1	UTSW	4	138,321,623 (GRCm39)	missense	probably damaging	1.00
R7690:Vwa5b1	UTSW	4	138,318,244 (GRCm39)	missense	probably damaging	0.98
R7908:Vwa5b1	UTSW	4	138,296,481 (GRCm39)	nonsense	probably null
R7965:Vwa5b1	UTSW	4	138,332,800 (GRCm39)	missense	probably damaging	1.00
R8865:Vwa5b1	UTSW	4	138,308,530 (GRCm39)	missense	probably benign	0.02
R8866:Vwa5b1	UTSW	4	138,327,628 (GRCm39)	missense	probably damaging	1.00
R8872:Vwa5b1	UTSW	4	138,305,956 (GRCm39)	missense	probably damaging	1.00
R8889:Vwa5b1	UTSW	4	138,338,041 (GRCm39)	missense	probably benign	0.01
R9045:Vwa5b1	UTSW	4	138,315,990 (GRCm39)	missense	probably damaging	1.00
R9089:Vwa5b1	UTSW	4	138,296,742 (GRCm39)	missense	probably benign	0.08
R9366:Vwa5b1	UTSW	4	138,318,229 (GRCm39)	missense	probably damaging	0.97
R9450:Vwa5b1	UTSW	4	138,315,940 (GRCm39)	missense	possibly damaging	0.89
R9646:Vwa5b1	UTSW	4	138,319,420 (GRCm39)	missense	probably damaging	0.97
Z1177:Vwa5b1	UTSW	4	138,340,149 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCATCATTATGGCCTCCGTG -3'
(R):5'- TGCTCAGAAGTCAGCCTCAATTC -3'

Sequencing Primer
(F):5'- TCCGTGGCAAAGGGGAC -3'
(R):5'- TCAATTCTCCAAATAAACAAGGAGG -3'

Posted On

2022-03-25