Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02671:Vwa5b1'

302916

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vwa5b1

Ensembl Gene

ENSMUSG00000028753

Gene Name

von Willebrand factor A domain containing 5B1

Synonyms

4931403E03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02671

Quality Score

Status

Chromosome

Chromosomal Location

138292671-138363195 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 138296437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 1197 (R1197*)

Ref Sequence

ENSEMBL: ENSMUSP00000030533 (fasta)

Gene Model

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

AlphaFold

A9Z1V5

Predicted Effect

probably null
Transcript: ENSMUST00000030533
AA Change: R1197*

SMART Domains

Protein: ENSMUSP00000030533
Gene: ENSMUSG00000028753
AA Change: R1197*

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: ENSMUST00000137206

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030612E09Rik	T	A	10: 43,050,887 (GRCm39)	H60Q	probably benign	Het
Agrn	C	T	4: 156,259,018 (GRCm39)		probably benign	Het
Angpt1	C	T	15: 42,539,790 (GRCm39)	R23H	possibly damaging	Het
Cadps	T	A	14: 12,491,824 (GRCm38)	E775D	probably damaging	Het
Cdc42bpa	T	A	1: 179,889,387 (GRCm39)	M211K	probably benign	Het
Cfap410	A	T	10: 77,816,384 (GRCm39)		probably benign	Het
Clec16a	A	G	16: 10,445,245 (GRCm39)	M77V	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp27b1	G	T	10: 126,886,912 (GRCm39)		probably null	Het
Eef1d	A	G	15: 75,767,654 (GRCm39)	I240T	probably damaging	Het
Fras1	T	A	5: 96,876,475 (GRCm39)	F2403I	possibly damaging	Het
Ighv1-47	C	T	12: 114,955,018 (GRCm39)	V21I	possibly damaging	Het
Kank1	T	C	19: 25,405,459 (GRCm39)	L1159P	probably damaging	Het
Kif12	T	C	4: 63,088,694 (GRCm39)	E202G	probably benign	Het
Kif17	A	G	4: 138,015,372 (GRCm39)	D315G	possibly damaging	Het
Mcam	T	C	9: 44,048,331 (GRCm39)		probably benign	Het
Mpdz	A	T	4: 81,208,510 (GRCm39)	D1778E	probably damaging	Het
Numbl	C	T	7: 26,964,327 (GRCm39)	R46W	probably damaging	Het
Or1af1	A	T	2: 37,110,257 (GRCm39)	Y252F	probably damaging	Het
Or6d13	C	T	6: 116,518,104 (GRCm39)	T230I	possibly damaging	Het
Pde3b	T	C	7: 114,122,580 (GRCm39)	V716A	possibly damaging	Het
Plcg1	T	A	2: 160,597,672 (GRCm39)	Y771*	probably null	Het
Pramel5	A	G	4: 143,999,682 (GRCm39)	V135A	probably benign	Het
Slu7	A	G	11: 43,336,302 (GRCm39)		probably null	Het
Taf2	C	T	15: 54,897,572 (GRCm39)	V919I	probably benign	Het
Tcf12	G	A	9: 72,016,999 (GRCm39)	T36M	probably damaging	Het
Tlr11	A	T	14: 50,598,149 (GRCm39)	D45V	probably damaging	Het
Tmem132b	A	G	5: 125,855,791 (GRCm39)	T508A	probably damaging	Het
Trf	C	T	9: 103,089,181 (GRCm39)	E569K	probably benign	Het
Trim24	T	C	6: 37,937,719 (GRCm39)	C875R	probably damaging	Het
Usf3	A	G	16: 44,042,144 (GRCm39)	N2208S	probably damaging	Het
Usp14	A	G	18: 9,997,196 (GRCm39)	V436A	probably damaging	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
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
R9273:Vwa5b1	UTSW	4	138,316,005 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16