Mutagenetix > Incidental Mutation

Incidental Mutation 'R8400:Vwa1'

647803

Institutional Source

Beutler Lab

Gene Symbol

Vwa1

Ensembl Gene

ENSMUSG00000042116

Gene Name

von Willebrand factor A domain containing 1

Synonyms

4932416A11Rik, WARP

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8400 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155768149-155774698 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155772768 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 191 (H191R)

Ref Sequence

ENSEMBL: ENSMUSP00000040405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042196]

AlphaFold

Q8R2Z5

Predicted Effect

probably benign
Transcript: ENSMUST00000042196
AA Change: H191R

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000040405
Gene: ENSMUSG00000042116
AA Change: H191R

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
VWA	32	210	3.05e-36	SMART
FN3	212	292	1.95e0	SMART
FN3	305	385	1.4e-5	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 [PubMed 12062410]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Mice homozygous for a reporter allele exhibit abnormal motor coordination/balance, increased thermal nociceptive threshold, and altered peripheral nerve structure and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,293,925	M1929I	probably benign	Het
Abca13	T	C	11: 9,298,218	I2655T	probably damaging	Het
Acad10	A	G	5: 121,626,205	V887A	possibly damaging	Het
Acot10	T	C	15: 20,666,172	E161G	possibly damaging	Het
Astn1	C	T	1: 158,657,100	P919L	probably benign	Het
Atp1a4	T	A	1: 172,234,494	D688V	probably damaging	Het
C4bp	C	A	1: 130,636,747	C400F	probably damaging	Het
Col6a6	A	C	9: 105,774,796	D1005E	probably damaging	Het
Csnk1g3	C	T	18: 53,953,288	R422C	probably benign	Het
Cutc	T	C	19: 43,753,205	S15P	probably benign	Het
Dgkb	T	C	12: 38,602,838		probably null	Het
Disc1	T	C	8: 125,232,993	V748A	probably benign	Het
Dmbt1	C	G	7: 131,082,587	D778E	unknown	Het
Dmxl2	T	C	9: 54,383,753	Y2471C	probably benign	Het
Fam185a	T	A	5: 21,438,816	N243K	probably benign	Het
Fchsd2	A	T	7: 101,253,573	Q386L	possibly damaging	Het
Gm904	C	A	13: 50,643,417	P49Q	probably damaging	Het
H2-Q10	C	T	17: 35,470,477	R59C	probably damaging	Het
Ier5l	A	G	2: 30,473,093	Y307H	possibly damaging	Het
Kmt2e	C	A	5: 23,497,092	T906K	probably benign	Het
Kndc1	C	T	7: 139,913,518	R467W	probably damaging	Het
Muc5ac	C	A	7: 141,810,476	T2508K	probably damaging	Het
Nlrp9a	A	T	7: 26,565,006	M784L	probably benign	Het
Nlrp9b	T	A	7: 20,024,012	C391*	probably null	Het
Nubp2	A	C	17: 24,884,465	M146R	probably damaging	Het
Olfr1295	A	T	2: 111,565,402	L14H	probably damaging	Het
Olfr1359	G	A	13: 21,703,915	V305M	probably benign	Het
Olfr1419	T	A	19: 11,871,214	M1L	probably damaging	Het
Olfr43	C	T	11: 74,206,395	V274M	possibly damaging	Het
Olfr694	T	A	7: 106,689,669	S21C	probably benign	Het
Olfr857	A	T	9: 19,713,093	N89Y	probably benign	Het
Otud1	T	C	2: 19,658,378	V106A	possibly damaging	Het
Pcdhac1	T	A	18: 37,092,400	Y755*	probably null	Het
Pkd1l3	C	T	8: 109,623,888	P455L	possibly damaging	Het
Ptprb	GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,283,572		probably benign	Het
Samhd1	T	C	2: 157,099,433	E648G	probably benign	Het
Smarca5	T	C	8: 80,709,127	T794A	probably benign	Het
Spc24	A	T	9: 21,757,730	L87H	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069		probably null	Het
Stra6l	G	A	4: 45,864,905	R77Q	probably damaging	Het
Tdrd1	G	A	19: 56,848,649	V472M	probably benign	Het
Tsc2	A	T	17: 24,604,987	I948K	possibly damaging	Het
Ttc39d	T	C	17: 80,216,005	V31A	probably benign	Het
Vmn1r158	A	T	7: 22,789,880	C301*	probably null	Het
Vmn2r22	A	T	6: 123,637,527	L368*	probably null	Het
Vmn2r79	A	G	7: 87,002,100	T236A	probably benign	Het
Zdbf2	T	A	1: 63,304,976	V838E	possibly damaging	Het

Other mutations in Vwa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01364:Vwa1	APN	4	155770743	critical splice donor site	probably null
IGL01611:Vwa1	APN	4	155770798	missense	possibly damaging	0.64
R1174:Vwa1	UTSW	4	155773266	missense	probably damaging	0.96
R1433:Vwa1	UTSW	4	155772901	missense	probably damaging	0.99
R1953:Vwa1	UTSW	4	155773114	missense	probably damaging	1.00
R2006:Vwa1	UTSW	4	155770850	missense	probably benign
R2105:Vwa1	UTSW	4	155772793	missense	probably damaging	1.00
R2346:Vwa1	UTSW	4	155773069	missense	probably benign	0.00
R3891:Vwa1	UTSW	4	155773194	missense	probably damaging	1.00
R4919:Vwa1	UTSW	4	155770600	missense	probably benign	0.10
R5285:Vwa1	UTSW	4	155770895	missense	probably benign	0.38
R5320:Vwa1	UTSW	4	155770912	missense	probably benign	0.00
R5554:Vwa1	UTSW	4	155773238	missense	probably damaging	1.00
R5666:Vwa1	UTSW	4	155774465	missense	probably damaging	1.00
R5670:Vwa1	UTSW	4	155774465	missense	probably damaging	1.00
R6433:Vwa1	UTSW	4	155772769	missense	probably benign	0.07
R8135:Vwa1	UTSW	4	155772894	missense	probably damaging	1.00
R8784:Vwa1	UTSW	4	155772888	missense	probably damaging	1.00
R8965:Vwa1	UTSW	4	155772983	nonsense	probably null
R9062:Vwa1	UTSW	4	155770363	missense	probably benign
R9306:Vwa1	UTSW	4	155770871	missense	probably benign	0.15
R9518:Vwa1	UTSW	4	155772879	missense	probably damaging	0.98
R9519:Vwa1	UTSW	4	155772879	missense	probably damaging	0.98
R9597:Vwa1	UTSW	4	155772879	missense	probably damaging	0.98
R9634:Vwa1	UTSW	4	155772879	missense	probably damaging	0.98
R9697:Vwa1	UTSW	4	155772879	missense	probably damaging	0.98
R9699:Vwa1	UTSW	4	155772879	missense	probably damaging	0.98
R9702:Vwa1	UTSW	4	155772879	missense	probably damaging	0.98
R9703:Vwa1	UTSW	4	155772879	missense	probably damaging	0.98
R9755:Vwa1	UTSW	4	155772879	missense	probably damaging	0.98
R9800:Vwa1	UTSW	4	155772879	missense	probably damaging	0.98
R9801:Vwa1	UTSW	4	155772879	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGCCACTATCACATACTCAAGG -3'
(R):5'- TGATACCAACACAGGCCTGG -3'

Sequencing Primer
(F):5'- GGCACCAGGCTCATGGG -3'
(R):5'- GCCAAAGAACAATTGTTTGCTGAG -3'

Posted On

2020-09-02