Mutagenetix > Incidental Mutation

Incidental Mutation 'R9062:Vwa1'

689024

Institutional Source

Beutler Lab

Gene Symbol

Vwa1

Ensembl Gene

ENSMUSG00000042116

Gene Name

von Willebrand factor A domain containing 1

Synonyms

4932416A11Rik, WARP

MMRRC Submission

068888-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9062 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155852952-155859042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 155854820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 405 (S405T)

Ref Sequence

ENSEMBL: ENSMUSP00000040405 (fasta)

Gene Model

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

AlphaFold

Q8R2Z5

Predicted Effect

probably benign
Transcript: ENSMUST00000042196
AA Change: S405T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000040405
Gene: ENSMUSG00000042116
AA Change: S405T

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

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambra1	A	G	2: 91,740,662 (GRCm39)	E1047G	possibly damaging	Het
Ankfn1	T	G	11: 89,325,583 (GRCm39)	I530L	probably benign	Het
Apob	A	T	12: 8,058,046 (GRCm39)	Y2176F	possibly damaging	Het
Atp5f1a	C	T	18: 77,866,459 (GRCm39)	R171*	probably null	Het
Atxn10	T	C	15: 85,275,918 (GRCm39)	V325A	probably benign	Het
B3galt1	T	C	2: 67,948,890 (GRCm39)	Y202H		Het
Calhm1	A	T	19: 47,129,828 (GRCm39)	D231E	possibly damaging	Het
Cel	C	A	2: 28,451,214 (GRCm39)	V48F	probably benign	Het
Cep78	T	A	19: 15,956,318 (GRCm39)	Y207F	probably benign	Het
Cnst	T	C	1: 179,434,100 (GRCm39)		probably null	Het
Cpeb2	C	A	5: 43,391,171 (GRCm39)	N122K		Het
Cyth1	T	C	11: 118,023,142 (GRCm39)	Q432R	unknown	Het
Eif2ak1	T	C	5: 143,803,548 (GRCm39)		probably benign	Het
Eif6	T	C	2: 155,665,928 (GRCm39)	T76A	probably benign	Het
Etfrf1	A	T	6: 145,161,153 (GRCm39)	N41I	probably damaging	Het
Etl4	T	G	2: 20,748,616 (GRCm39)	L318R	probably damaging	Het
Fam151a	G	T	4: 106,605,306 (GRCm39)	W556L	probably benign	Het
Gas2l1	A	G	11: 5,011,497 (GRCm39)	V444A	probably benign	Het
Gbp8	A	G	5: 105,179,124 (GRCm39)	I125T	possibly damaging	Het
Jrkl	A	G	9: 13,245,338 (GRCm39)	F108L	probably benign	Het
Kif13a	G	T	13: 46,941,536 (GRCm39)	D980E	possibly damaging	Het
Leng9	C	T	7: 4,151,666 (GRCm39)	A337T	probably damaging	Het
Lipo3	A	C	19: 33,757,714 (GRCm39)	C252G	probably damaging	Het
Lrp4	C	A	2: 91,303,925 (GRCm39)	D113E	possibly damaging	Het
Mapk8ip1	T	C	2: 92,217,527 (GRCm39)	Y265C	probably damaging	Het
Mios	A	T	6: 8,233,221 (GRCm39)	I790F	probably benign	Het
Mlf2	G	A	6: 124,911,334 (GRCm39)		silent	Het
Mycbp2	T	A	14: 103,479,796 (GRCm39)	Y1226F	probably benign	Het
Ncoa6	T	A	2: 155,263,348 (GRCm39)	Q362L	probably benign	Het
Notch3	T	C	17: 32,341,692 (GRCm39)	D2020G	possibly damaging	Het
Or4a73	T	C	2: 89,420,923 (GRCm39)	M179V	probably benign	Het
Or4c111	T	A	2: 88,843,548 (GRCm39)	T287S	probably damaging	Het
Or52z1	T	A	7: 103,437,155 (GRCm39)	I110L	probably benign	Het
Or8d1b	A	T	9: 38,887,421 (GRCm39)	I150F	probably benign	Het
Otop2	C	A	11: 115,214,465 (GRCm39)	A74E	probably benign	Het
Pgm1	T	C	4: 99,843,954 (GRCm39)	I579T	probably damaging	Het
Preb	A	G	5: 31,116,196 (GRCm39)	V137A	probably benign	Het
Psap	G	T	10: 60,131,738 (GRCm39)	V244L	possibly damaging	Het
Setbp1	A	G	18: 78,900,266 (GRCm39)	S1134P	probably benign	Het
Skp2	G	T	15: 9,113,821 (GRCm39)	P399Q	probably damaging	Het
Slc47a1	T	G	11: 61,253,924 (GRCm39)	I222L	probably benign	Het
Spata31h1	A	G	10: 82,126,945 (GRCm39)	W2022R	probably benign	Het
Spef2	A	G	15: 9,601,717 (GRCm39)	L1515S	unknown	Het
Sri	T	C	5: 8,106,625 (GRCm39)	Y13H	unknown	Het
Tcf25	T	C	8: 124,116,448 (GRCm39)	F248L		Het
Tdrd12	T	C	7: 35,179,694 (GRCm39)	T885A	unknown	Het
Ttn	T	C	2: 76,600,944 (GRCm39)	T18813A	probably damaging	Het
Usp42	A	G	5: 143,703,740 (GRCm39)	V441A	possibly damaging	Het
Zbbx	A	T	3: 74,989,124 (GRCm39)	H326Q	possibly damaging	Het
Zfp64	T	C	2: 168,767,747 (GRCm39)	T622A	probably benign	Het
Zfp677	T	G	17: 21,612,815 (GRCm39)		probably null	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
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'- TAACGCTGGTCAAAGGCAGG -3'
(R):5'- ACGCATCGTCATCTCGCATG -3'

Sequencing Primer
(F):5'- TCAAAGGCAGGACCGGCATC -3'
(R):5'- ATGTACAGCTCGGACCTCTG -3'

Posted On

2021-11-19