Mutagenetix > Incidental Mutation

Incidental Mutation 'R9800:Vwa1'

735149

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 #

R9800 (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: 99.8%
10x: 99.5%
20x: 98.7%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,119,283 (GRCm39)	I1009N	possibly damaging	Het
Abtb3	C	A	10: 85,224,079 (GRCm39)	A296E	unknown	Het
Adcy8	T	A	15: 64,571,095 (GRCm39)	N1213Y	probably benign	Het
Ahctf1	T	C	1: 179,581,433 (GRCm39)	S1590G	possibly damaging	Het
Ahcyl1	A	T	3: 107,577,588 (GRCm39)	N277K	probably damaging	Het
Ank2	A	T	3: 126,740,149 (GRCm39)	S1912T	unknown	Het
Ank3	T	A	10: 69,733,957 (GRCm39)	N740K	unknown	Het
Atp13a3	A	C	16: 30,159,051 (GRCm39)	I800S	probably benign	Het
AU041133	T	A	10: 81,986,679 (GRCm39)	C111S	probably damaging	Het
Azi2	T	A	9: 117,884,924 (GRCm39)	I211N	probably benign	Het
Camk2b	T	C	11: 5,922,408 (GRCm39)	N480S	probably damaging	Het
Card6	A	G	15: 5,128,702 (GRCm39)	V898A	probably benign	Het
Copb2	T	A	9: 98,461,081 (GRCm39)	M381K	probably damaging	Het
Cplx3	T	C	9: 57,523,060 (GRCm39)	D133G	probably damaging	Het
Crisp1	A	T	17: 40,616,071 (GRCm39)	M102K	probably damaging	Het
Dcxr	A	T	11: 120,618,084 (GRCm39)		probably benign	Het
Dennd5a	C	A	7: 109,500,374 (GRCm39)	R917L	probably benign	Het
Egflam	T	A	15: 7,279,525 (GRCm39)	T494S	probably benign	Het
Fkbpl	T	A	17: 34,864,691 (GRCm39)	M153K	probably benign	Het
Helz2	A	T	2: 180,882,616 (GRCm39)	I59N	probably damaging	Het
Ldlrap1	T	C	4: 134,477,303 (GRCm39)	T194A	probably benign	Het
Lrrc27	T	C	7: 138,807,913 (GRCm39)	M340T	probably benign	Het
Lum	T	A	10: 97,404,157 (GRCm39)	S17R	probably benign	Het
Malrd1	A	G	2: 15,847,405 (GRCm39)	K1182E	unknown	Het
Map3k2	A	T	18: 32,333,069 (GRCm39)	D81V	possibly damaging	Het
Muc5b	A	T	7: 141,415,480 (GRCm39)	T2809S	possibly damaging	Het
Nle1	C	A	11: 82,793,876 (GRCm39)	V387L	probably benign	Het
Nr1h4	T	C	10: 89,290,618 (GRCm39)	D474G	probably benign	Het
Nup205	T	C	6: 35,163,468 (GRCm39)	I144T	possibly damaging	Het
Or10ag57	G	T	2: 87,218,508 (GRCm39)	C153F	probably damaging	Het
Or1e17	C	A	11: 73,831,986 (GRCm39)	L305I	probably benign	Het
Or2a56	A	T	6: 42,933,091 (GRCm39)	I220F	probably damaging	Het
Or4f15	G	A	2: 111,814,194 (GRCm39)	S75L	possibly damaging	Het
Or4n4	G	A	14: 50,519,701 (GRCm39)	T3I	probably benign	Het
Or51f1	T	C	7: 102,506,093 (GRCm39)	Y132C	probably benign	Het
Pkn3	C	T	2: 29,973,290 (GRCm39)	R371*	probably null	Het
Plin2	A	T	4: 86,586,742 (GRCm39)	S30T	possibly damaging	Het
Ppfibp1	T	C	6: 146,917,769 (GRCm39)	V475A	probably benign	Het
Ppp2ca	T	C	11: 52,008,910 (GRCm39)	Y137H	probably damaging	Het
Rasgrf2	T	A	13: 92,267,860 (GRCm39)	Q48L	probably damaging	Het
Rnf168	G	C	16: 32,117,386 (GRCm39)	V316L	probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Spata31d1d	T	C	13: 59,874,637 (GRCm39)	H966R	possibly damaging	Het
Speg	C	A	1: 75,399,358 (GRCm39)	D2268E	probably benign	Het
Srp54c	A	G	12: 55,296,811 (GRCm39)	I170V	probably benign	Het
Syde2	A	G	3: 145,704,364 (GRCm39)	R439G	probably benign	Het
Tcof1	T	C	18: 60,949,558 (GRCm39)	K1155R	unknown	Het
Tmem184c	T	C	8: 78,323,087 (GRCm39)	I592V	probably benign	Het
Trav6-7-dv9	A	G	14: 53,947,669 (GRCm39)	Y57C	probably damaging	Het
Trpc1	T	A	9: 95,625,303 (GRCm39)	I108F	probably damaging	Het
Virma	A	T	4: 11,546,007 (GRCm39)	H1615L	probably damaging	Het
Vmn2r10	A	T	5: 109,150,404 (GRCm39)	D213E	probably damaging	Het
Vmn2r116	T	A	17: 23,620,399 (GRCm39)	V711E	probably damaging	Het
Vps16	T	C	2: 130,282,405 (GRCm39)	F413L	probably benign	Het
Wasf1	T	C	10: 40,812,693 (GRCm39)	I494T	unknown	Het
Wdr36	A	G	18: 32,985,700 (GRCm39)	D539G	possibly damaging	Het
Zfp81	A	T	17: 33,554,411 (GRCm39)	C134*	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
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
R9801:Vwa1	UTSW	4	155,857,336 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCTGTCAGCTAGGGATTCAC -3'
(R):5'- GTTCAGGCCAGGCTATACAG -3'

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

Posted On

2022-11-14