Mutagenetix > Incidental Mutation

Incidental Mutation 'R9519:Vwa1'

718748

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 #

R9519 (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: 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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	C	5: 77,030,572 (GRCm39)	E676G	probably benign	Het
Aatk	G	A	11: 119,912,309 (GRCm39)		probably benign	Het
Abcc1	T	C	16: 14,207,681 (GRCm39)	V20A	probably benign	Het
Abcc3	A	G	11: 94,264,805 (GRCm39)	V181A	possibly damaging	Het
Alkbh2	T	C	5: 114,265,794 (GRCm39)	K3E	probably benign	Het
Aox1	A	C	1: 58,373,926 (GRCm39)	K862N	probably damaging	Het
Arap1	G	A	7: 101,043,946 (GRCm39)		probably benign	Het
Arid2	A	G	15: 96,186,948 (GRCm39)	N67D	possibly damaging	Het
Atxn1l	C	T	8: 110,458,688 (GRCm39)	V525M	probably damaging	Het
Bcan	C	G	3: 87,902,964 (GRCm39)	E271D	probably damaging	Het
Bcan	T	C	3: 87,902,968 (GRCm39)	E270G	probably benign	Het
Bcan	C	A	3: 87,902,967 (GRCm39)	E270D	probably damaging	Het
Cadps	T	C	14: 12,546,290 (GRCm38)	H522R	possibly damaging	Het
Dll3	A	G	7: 27,995,764 (GRCm39)	S346P	probably damaging	Het
Epha3	T	A	16: 63,472,668 (GRCm39)	T406S	possibly damaging	Het
Far1	A	G	7: 113,150,559 (GRCm39)	R296G	probably benign	Het
Flot1	T	G	17: 36,136,363 (GRCm39)	V172G	possibly damaging	Het
Gm973	A	G	1: 59,580,611 (GRCm39)	M165V	probably benign	Het
Golm1	T	C	13: 59,792,914 (GRCm39)	H197R	probably benign	Het
Gpr85	T	C	6: 13,836,998 (GRCm39)		probably benign	Het
Herc1	A	G	9: 66,307,356 (GRCm39)	K1017E	probably damaging	Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Jmjd1c	A	G	10: 66,993,798 (GRCm39)	D93G	possibly damaging	Het
Kcnn4	T	A	7: 24,081,941 (GRCm39)	V363E	probably damaging	Het
Kif9	A	G	9: 110,350,344 (GRCm39)	D745G	probably damaging	Het
Lipm	T	C	19: 34,090,392 (GRCm39)	M191T	probably benign	Het
Ltbp1	C	T	17: 75,692,190 (GRCm39)	R1603C	probably damaging	Het
Ms4a13	C	G	19: 11,147,332 (GRCm39)	S194T	unknown	Het
Muc16	A	T	9: 18,498,216 (GRCm39)	I6577N	probably benign	Het
Nfatc2	T	C	2: 168,412,678 (GRCm39)	T336A	probably benign	Het
Nlrp9c	T	A	7: 26,085,302 (GRCm39)	K92N	possibly damaging	Het
Or1p1b	A	T	11: 74,130,827 (GRCm39)	T146S	probably benign	Het
Or51a10	C	A	7: 103,698,636 (GRCm39)	M308I	probably benign	Het
Parp16	T	A	9: 65,137,222 (GRCm39)	Y149*	probably null	Het
Pdgfra	A	T	5: 75,337,350 (GRCm39)	T463S	probably benign	Het
Peg3	T	C	7: 6,714,394 (GRCm39)	E276G	probably benign	Het
Prom1	A	G	5: 44,213,403 (GRCm39)	V110A	possibly damaging	Het
Ptprq	T	C	10: 107,520,961 (GRCm39)	Y737C	probably damaging	Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Sds	T	A	5: 120,619,610 (GRCm39)	L173Q	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc8a3	A	T	12: 81,362,326 (GRCm39)	D164E	probably benign	Het
Slc9c1	A	T	16: 45,395,770 (GRCm39)	N607I	probably damaging	Het
Smarce1	A	T	11: 99,104,933 (GRCm39)	I248K	probably benign	Het
Smg7	G	T	1: 152,735,196 (GRCm39)	T213K	probably damaging	Het
Snrnp70	C	T	7: 45,036,875 (GRCm39)	D90N	probably benign	Het
Snx20	A	G	8: 89,354,400 (GRCm39)	V110A	possibly damaging	Het
Snx25	A	G	8: 46,486,783 (GRCm39)	V986A	probably damaging	Het
Soat1	T	C	1: 156,259,779 (GRCm39)	K521E	probably benign	Het
Speg	C	T	1: 75,392,380 (GRCm39)	T1679M	probably damaging	Het
Stoml3	T	A	3: 53,405,402 (GRCm39)	F28I	probably benign	Het
Sult1d1	A	T	5: 87,704,721 (GRCm39)	M256K	probably damaging	Het
Tiam1	T	C	16: 89,608,822 (GRCm39)	E1064G	probably benign	Het
Zfp790	C	A	7: 29,522,567 (GRCm39)	H3N	unknown	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
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'- GTCAGCTAGGGATTCACAGGAC -3'
(R):5'- TACAGTTCAGGCCAGGCTATACAG -3'

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

Posted On

2022-07-18