Mutagenetix > Incidental Mutation

Incidental Mutation 'R5285:Vwa1'

402975

Institutional Source

Beutler Lab

Gene Symbol

Vwa1

Ensembl Gene

ENSMUSG00000042116

Gene Name

von Willebrand factor A domain containing 1

Synonyms

4932416A11Rik, WARP

MMRRC Submission

042869-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5285 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155852952-155859042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 155855352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 254 (A254T)

Ref Sequence

ENSEMBL: ENSMUSP00000040405 (fasta)

Gene Model

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

AlphaFold

Q8R2Z5

Predicted Effect

probably benign
Transcript: ENSMUST00000042196
AA Change: A254T

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000040405
Gene: ENSMUSG00000042116
AA Change: A254T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174185

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180784

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (65/66)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 106,435,097 (GRCm39)	T12A	probably benign	Het
Acbd6	T	A	1: 155,434,471 (GRCm39)	S30T	probably benign	Het
Adcy8	G	T	15: 64,639,706 (GRCm39)	H685N	possibly damaging	Het
Aldh1l1	A	T	6: 90,553,752 (GRCm39)	K539*	probably null	Het
Ap1m2	G	T	9: 21,216,933 (GRCm39)	Y134*	probably null	Het
Apobr	A	G	7: 126,184,175 (GRCm39)		probably benign	Het
Atl1	A	G	12: 70,001,273 (GRCm39)	K345R	probably benign	Het
Avil	T	C	10: 126,854,328 (GRCm39)	L765P	probably damaging	Het
Caps2	T	A	10: 112,044,216 (GRCm39)	Y472N	probably benign	Het
Catspere2	A	G	1: 177,931,454 (GRCm39)	K458E	unknown	Het
Cd177	A	T	7: 24,445,674 (GRCm39)	S590T	probably benign	Het
Cep295	T	C	9: 15,233,887 (GRCm39)	D2223G	probably benign	Het
Cfh	T	C	1: 140,028,636 (GRCm39)	T493A	probably benign	Het
Chek1	T	C	9: 36,625,748 (GRCm39)	D299G	probably benign	Het
Cpox	G	A	16: 58,495,649 (GRCm39)	G322D	probably damaging	Het
Crhr1	A	T	11: 104,061,323 (GRCm39)	I243F	possibly damaging	Het
Cyp3a11	A	G	5: 145,791,893 (GRCm39)	V500A	probably benign	Het
Dcdc5	A	T	2: 106,198,500 (GRCm39)		noncoding transcript	Het
Ergic3	A	G	2: 155,859,957 (GRCm39)		probably benign	Het
Fabp3-ps1	T	G	10: 86,568,066 (GRCm39)		probably benign	Het
Gm6445	C	A	19: 9,585,032 (GRCm39)		noncoding transcript	Het
Gucy2d	C	A	7: 98,107,474 (GRCm39)		probably null	Het
Ighv1-19-1	C	A	12: 114,667,872 (GRCm39)		probably benign	Het
Igkv2-116	G	T	6: 68,129,463 (GRCm39)	R75L	probably benign	Het
Inhbc	C	A	10: 127,193,269 (GRCm39)	R249L	probably damaging	Het
Lrrn2	T	A	1: 132,866,983 (GRCm39)	S683T	possibly damaging	Het
Lyst	T	C	13: 13,809,011 (GRCm39)	V227A	probably benign	Het
Mroh5	TGGAG	TG	15: 73,654,923 (GRCm39)		probably benign	Het
Msh4	T	C	3: 153,579,350 (GRCm39)	N587S	probably benign	Het
Mug1	G	A	6: 121,818,066 (GRCm39)	E126K	probably benign	Het
Nav2	T	C	7: 49,197,982 (GRCm39)	S1204P	probably damaging	Het
Ncor1	A	G	11: 62,283,475 (GRCm39)	I413T	probably damaging	Het
Nipa2	A	T	7: 55,582,760 (GRCm39)	Y328*	probably null	Het
Or1e25	T	A	11: 73,493,767 (GRCm39)	Y120*	probably null	Het
Or51a24	A	G	7: 103,733,340 (GRCm39)	*316R	probably null	Het
Or52s1	C	T	7: 102,862,005 (GRCm39)	R302*	probably null	Het
Or5k15	A	T	16: 58,710,471 (GRCm39)	Y37*	probably null	Het
Or5k3	T	C	16: 58,969,633 (GRCm39)	L140P	probably damaging	Het
Pla2g4e	T	C	2: 120,019,985 (GRCm39)	D155G	probably damaging	Het
Plxnb1	C	T	9: 108,937,527 (GRCm39)	T1176I	probably damaging	Het
Polg	A	G	7: 79,114,973 (GRCm39)		probably benign	Het
Prl8a2	G	A	13: 27,534,116 (GRCm39)		probably null	Het
Prmt7	G	A	8: 106,974,991 (GRCm39)	R529Q	probably benign	Het
Psg17	T	A	7: 18,554,126 (GRCm39)	L41F	probably benign	Het
Rad18	T	C	6: 112,663,726 (GRCm39)	R73G	probably benign	Het
Rhpn2	G	T	7: 35,080,990 (GRCm39)		probably benign	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sarm1	A	G	11: 78,388,265 (GRCm39)	F7S	probably benign	Het
Sgip1	T	A	4: 102,778,674 (GRCm39)		probably benign	Het
Sh3gl2	A	G	4: 85,294,686 (GRCm39)	K99R	probably benign	Het
Sorbs1	G	A	19: 40,310,334 (GRCm39)	T1018I	probably damaging	Het
Spns2	G	A	11: 72,380,305 (GRCm39)	A106V	possibly damaging	Het
Stab1	A	G	14: 30,865,433 (GRCm39)		probably benign	Het
Steap3	T	C	1: 120,169,610 (GRCm39)	D191G	probably damaging	Het
Stxbp5	T	C	10: 9,674,019 (GRCm39)		probably null	Het
Sycp2	A	T	2: 178,034,191 (GRCm39)		probably null	Het
Tm6sf1	A	G	7: 81,509,200 (GRCm39)	S2G	possibly damaging	Het
Usp24	T	A	4: 106,264,230 (GRCm39)	D1720E	probably benign	Het
Vmn1r200	G	A	13: 22,579,457 (GRCm39)	E78K	possibly damaging	Het
Vmn2r120	A	G	17: 57,843,703 (GRCm39)	L47P	probably damaging	Het
Vmn2r14	T	C	5: 109,365,442 (GRCm39)	N544S	probably damaging	Het
Zfp7	G	A	15: 76,775,422 (GRCm39)	R488Q	probably damaging	Het
Zfp940	A	T	7: 29,545,025 (GRCm39)	L294H	probably damaging	Het

Other mutations in Vwa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01364:Vwa1	APN	4	155,855,200 (GRCm39)	critical splice donor site	probably null
IGL01611:Vwa1	APN	4	155,855,255 (GRCm39)	missense	possibly damaging	0.64
R1174:Vwa1	UTSW	4	155,857,723 (GRCm39)	missense	probably damaging	0.96
R1433:Vwa1	UTSW	4	155,857,358 (GRCm39)	missense	probably damaging	0.99
R1953:Vwa1	UTSW	4	155,857,571 (GRCm39)	missense	probably damaging	1.00
R2006:Vwa1	UTSW	4	155,855,307 (GRCm39)	missense	probably benign
R2105:Vwa1	UTSW	4	155,857,250 (GRCm39)	missense	probably damaging	1.00
R2346:Vwa1	UTSW	4	155,857,526 (GRCm39)	missense	probably benign	0.00
R3891:Vwa1	UTSW	4	155,857,651 (GRCm39)	missense	probably damaging	1.00
R4919:Vwa1	UTSW	4	155,855,057 (GRCm39)	missense	probably benign	0.10
R5320:Vwa1	UTSW	4	155,855,369 (GRCm39)	missense	probably benign	0.00
R5554:Vwa1	UTSW	4	155,857,695 (GRCm39)	missense	probably damaging	1.00
R5666:Vwa1	UTSW	4	155,858,922 (GRCm39)	missense	probably damaging	1.00
R5670:Vwa1	UTSW	4	155,858,922 (GRCm39)	missense	probably damaging	1.00
R6433:Vwa1	UTSW	4	155,857,226 (GRCm39)	missense	probably benign	0.07
R8135:Vwa1	UTSW	4	155,857,351 (GRCm39)	missense	probably damaging	1.00
R8400:Vwa1	UTSW	4	155,857,225 (GRCm39)	missense	probably benign	0.03
R8784:Vwa1	UTSW	4	155,857,345 (GRCm39)	missense	probably damaging	1.00
R8965:Vwa1	UTSW	4	155,857,440 (GRCm39)	nonsense	probably null
R9062:Vwa1	UTSW	4	155,854,820 (GRCm39)	missense	probably benign
R9306:Vwa1	UTSW	4	155,855,328 (GRCm39)	missense	probably benign	0.15
R9518:Vwa1	UTSW	4	155,857,336 (GRCm39)	missense	probably damaging	0.98
R9519:Vwa1	UTSW	4	155,857,336 (GRCm39)	missense	probably damaging	0.98
R9597:Vwa1	UTSW	4	155,857,336 (GRCm39)	missense	probably damaging	0.98
R9634:Vwa1	UTSW	4	155,857,336 (GRCm39)	missense	probably damaging	0.98
R9697:Vwa1	UTSW	4	155,857,336 (GRCm39)	missense	probably damaging	0.98
R9699:Vwa1	UTSW	4	155,857,336 (GRCm39)	missense	probably damaging	0.98
R9702:Vwa1	UTSW	4	155,857,336 (GRCm39)	missense	probably damaging	0.98
R9703:Vwa1	UTSW	4	155,857,336 (GRCm39)	missense	probably damaging	0.98
R9755:Vwa1	UTSW	4	155,857,336 (GRCm39)	missense	probably damaging	0.98
R9800:Vwa1	UTSW	4	155,857,336 (GRCm39)	missense	probably damaging	0.98
R9801:Vwa1	UTSW	4	155,857,336 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CCTCCTCTGCGAAGAAAGAG -3'
(R):5'- TGAGAGCCCCATTTGGTGAC -3'

Sequencing Primer
(F):5'- CTCTGCGAAGAAAGAGGATAGTTGC -3'
(R):5'- CCCATTTGGTGACACGGTC -3'

Posted On

2016-07-22