Mutagenetix > Incidental Mutation

Incidental Mutation 'R4134:Vwa5b1'

314801

Institutional Source

Beutler Lab

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 #

R4134 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

138292671-138363195 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138321641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 384 (M384K)

Ref Sequence

ENSEMBL: ENSMUSP00000030533 (fasta)

Gene Model

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

AlphaFold

A9Z1V5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030533
AA Change: M384K

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030533
Gene: ENSMUSG00000028753
AA Change: M384K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154312

Meta Mutation Damage Score

0.1770

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ces1g	T	C	8: 94,046,500 (GRCm39)	T342A	probably benign	Het
Clip2	A	G	5: 134,521,107 (GRCm39)	V977A	probably benign	Het
Cnot11	T	C	1: 39,576,629 (GRCm39)	V211A	probably benign	Het
Dcaf12l1	T	C	X: 43,878,330 (GRCm39)	N156S	probably damaging	Het
Dennd2d	T	A	3: 106,389,977 (GRCm39)	D2E	probably benign	Het
F2	T	C	2: 91,459,553 (GRCm39)	D410G	possibly damaging	Het
Gabrb3	G	T	7: 57,241,036 (GRCm39)	A5S	probably benign	Het
Gcnt2	T	A	13: 41,041,283 (GRCm39)	N147K	probably damaging	Het
Greb1l	T	C	18: 10,529,708 (GRCm39)		probably null	Het
Gtdc1	A	G	2: 44,715,430 (GRCm39)	W38R	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hspg2	A	T	4: 137,283,968 (GRCm39)	Q3446L	probably damaging	Het
Htr5a	A	G	5: 28,047,690 (GRCm39)	M82V	probably benign	Het
Itgb4	G	T	11: 115,897,296 (GRCm39)	G1454V	probably benign	Het
Lrrc9	T	C	12: 72,513,740 (GRCm39)	S534P	probably benign	Het
Nkx6-1	T	A	5: 101,807,371 (GRCm39)	D337V	probably damaging	Het
Npm2	C	T	14: 70,885,822 (GRCm39)	E128K	possibly damaging	Het
Nyap2	A	G	1: 81,218,908 (GRCm39)	D310G	probably damaging	Het
Or2l13b	T	A	16: 19,349,452 (GRCm39)	I73F	possibly damaging	Het
Or4l1	T	C	14: 50,166,272 (GRCm39)	H243R	probably damaging	Het
Pum1	A	T	4: 130,491,380 (GRCm39)	I770F	probably damaging	Het
Rreb1	A	T	13: 38,131,099 (GRCm39)	N1418Y	probably damaging	Het
Syt9	A	G	7: 107,035,630 (GRCm39)	S216G	probably benign	Het
Tep1	G	A	14: 51,082,317 (GRCm39)	H1120Y	probably benign	Het
Ttn	T	A	2: 76,715,138 (GRCm39)		probably benign	Het
Vmn1r8	A	G	6: 57,013,705 (GRCm39)	D252G	probably benign	Het
Zfhx2	G	A	14: 55,302,600 (GRCm39)	P1795S	possibly damaging	Het
Zfhx4	T	C	3: 5,308,687 (GRCm39)	S638P	probably damaging	Het
Zfp677	A	G	17: 21,618,043 (GRCm39)	T367A	probably benign	Het
Zfp729a	C	A	13: 67,767,925 (GRCm39)	C768F	probably damaging	Het
Zfp810	T	C	9: 22,190,369 (GRCm39)	K180E	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTGACGATCCCCAGGATAAC -3'
(R):5'- TAAAGAGGCGCGTGCTCATC -3'

Sequencing Primer
(F):5'- CCAGGATAACCTCAGATGCTGTG -3'
(R):5'- ATCACTTTGATGGGCCAGC -3'

Posted On

2015-05-14