Mutagenetix > Incidental Mutation

Incidental Mutation 'R9697:Vwa1'

729354

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 #

R9697 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155852952-155859042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 155857336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 154 (P154L)

Ref Sequence

ENSEMBL: ENSMUSP00000040405 (fasta)

Gene Model

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

AlphaFold

Q8R2Z5

Predicted Effect

probably damaging
Transcript: ENSMUST00000042196
AA Change: P154L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040405
Gene: ENSMUSG00000042116
AA Change: P154L

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	T	17: 15,163,769 (GRCm39)		probably benign	Het
9330182O14Rik	C	T	15: 40,005,500 (GRCm39)		probably benign	Het
Adamts19	C	A	18: 59,101,834 (GRCm39)	P635T	probably damaging	Het
Adgrf1	T	C	17: 43,625,362 (GRCm39)	W857R	possibly damaging	Het
Ak9	T	G	10: 41,298,968 (GRCm39)	Y1556*	probably null	Het
Ang2	T	C	14: 51,433,326 (GRCm39)	I19V	probably benign	Het
Ano3	T	A	2: 110,496,253 (GRCm39)	T834S	probably damaging	Het
As3mt	A	T	19: 46,708,420 (GRCm39)	I236F	probably benign	Het
Asns	A	T	6: 7,689,268 (GRCm39)	I78N	probably damaging	Het
Bet1	G	A	6: 4,082,471 (GRCm39)	T44M	probably damaging	Het
Cabyr	T	C	18: 12,884,407 (GRCm39)	V298A	possibly damaging	Het
Cacna1c	A	G	6: 118,589,598 (GRCm39)	V1601A		Het
Ccni	A	T	5: 93,350,201 (GRCm39)	M26K	probably damaging	Het
Cdhr2	T	C	13: 54,867,679 (GRCm39)	I503T	probably damaging	Het
Cfap54	T	C	10: 92,792,851 (GRCm39)	K1754R	unknown	Het
Cfap69	A	G	5: 5,676,041 (GRCm39)	V218A	possibly damaging	Het
Clcn3	A	G	8: 61,372,518 (GRCm39)	L741P	probably damaging	Het
Cntnap1	T	C	11: 101,068,828 (GRCm39)	F124L	possibly damaging	Het
Col20a1	G	A	2: 180,641,577 (GRCm39)	G673D	probably benign	Het
Col4a2	A	G	8: 11,487,628 (GRCm39)	I977V	probably benign	Het
Cyp3a59	A	T	5: 146,031,190 (GRCm39)	I118F	probably damaging	Het
Dgcr8	A	T	16: 18,098,283 (GRCm39)	D369E	probably benign	Het
Dhtkd1	T	C	2: 5,919,651 (GRCm39)	T577A	probably benign	Het
Dock2	A	T	11: 34,204,417 (GRCm39)	M1375K	probably benign	Het
Fa2h	G	A	8: 112,074,659 (GRCm39)	H315Y	probably damaging	Het
Foxd2	G	A	4: 114,765,684 (GRCm39)	P112L	unknown	Het
Gin1	A	G	1: 97,712,897 (GRCm39)	I317V	probably benign	Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
H2-T3	T	A	17: 36,500,744 (GRCm39)	Y33F	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Il12rb1	G	A	8: 71,263,874 (GRCm39)	W145*	probably null	Het
Il6ra	A	G	3: 89,785,219 (GRCm39)	V330A	probably benign	Het
Impdh2	T	C	9: 108,438,847 (GRCm39)	S67P	possibly damaging	Het
Ltbp3	T	A	19: 5,792,521 (GRCm39)	S85T	probably benign	Het
Magi3	A	G	3: 103,956,458 (GRCm39)		probably null	Het
Mettl4	T	A	17: 95,034,806 (GRCm39)	I430F	probably damaging	Het
Mmd	T	A	11: 90,167,579 (GRCm39)	F203I	probably damaging	Het
Nlgn1	T	C	3: 25,494,035 (GRCm39)	T305A	possibly damaging	Het
Ntn1	A	G	11: 68,168,356 (GRCm39)	V367A	probably damaging	Het
Or2w1b	A	T	13: 21,299,892 (GRCm39)	H10L	probably benign	Het
Or5b107	G	A	19: 13,142,888 (GRCm39)	C170Y	possibly damaging	Het
Pcdh12	T	C	18: 38,415,022 (GRCm39)	H701R	possibly damaging	Het
Pcgf3	G	A	5: 108,621,773 (GRCm39)		probably null	Het
Pik3c2g	G	A	6: 139,913,517 (GRCm39)	V972M	unknown	Het
Pink1	A	G	4: 138,041,323 (GRCm39)	C563R	possibly damaging	Het
Prol1	A	T	5: 88,466,426 (GRCm39)	N3I	probably benign	Het
Ptpro	T	G	6: 137,363,288 (GRCm39)	I474S	probably damaging	Het
Rabgef1	A	G	5: 130,241,781 (GRCm39)	E395G	probably benign	Het
Rpgrip1l	G	T	8: 91,987,391 (GRCm39)	H889N	possibly damaging	Het
Sapcd2	T	A	2: 25,262,925 (GRCm39)	C161*	probably null	Het
Sbsn	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	7: 30,452,391 (GRCm39)		probably benign	Het
Spen	A	G	4: 141,196,275 (GRCm39)	L3625P	probably damaging	Het
Stil	T	C	4: 114,878,701 (GRCm39)	I379T	probably benign	Het
Stim1	A	G	7: 102,078,014 (GRCm39)	D172G		Het
Timm50	A	G	7: 28,010,350 (GRCm39)	L68P	probably damaging	Het
Tlr9	C	T	9: 106,100,723 (GRCm39)	R5*	probably null	Het
Top1mt	A	T	15: 75,547,874 (GRCm39)	Y71N	probably damaging	Het
Trpv4	A	G	5: 114,771,285 (GRCm39)	Y415H	possibly damaging	Het
Try10	C	T	6: 41,331,041 (GRCm39)		probably benign	Het
Uhrf2	A	G	19: 30,063,780 (GRCm39)	E581G	probably damaging	Het
Usp17lb	G	A	7: 104,490,495 (GRCm39)	T144I	possibly damaging	Het
Vmn1r64	T	C	7: 5,886,859 (GRCm39)	N228S	probably benign	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
R5285:Vwa1	UTSW	4	155,855,352 (GRCm39)	missense	probably benign	0.38
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
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'- CTGTCAGCTAGGGATTCACAG -3'
(R):5'- AGTTCAGGCCAGGCTATACAGG -3'

Sequencing Primer
(F):5'- TAGGGATTCACAGGACCTGC -3'
(R):5'- CAGGCTATACAGGATGCCATC -3'

Posted On

2022-10-06