Mutagenetix > Incidental Mutation

Incidental Mutation 'R8024:Vwa5a'

617589

Institutional Source

Beutler Lab

Gene Symbol

Vwa5a

Ensembl Gene

ENSMUSG00000023186

Gene Name

von Willebrand factor A domain containing 5A

Synonyms

5830475I06Rik, Loh11cr2a, BCSC-1

MMRRC Submission

067463-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38629564-38654633 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 38647316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 565 (S565*)

Ref Sequence

ENSEMBL: ENSMUSP00000001544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001544] [ENSMUST00000118144]

AlphaFold

Q99KC8

Predicted Effect

probably null
Transcript: ENSMUST00000001544
AA Change: S565*

SMART Domains

Protein: ENSMUSP00000001544
Gene: ENSMUSG00000023186
AA Change: S565*

Domain	Start	End	E-Value	Type
VIT	1	131	2.59e-61	SMART
VWA	279	460	2.61e-12	SMART
low complexity region	615	629	N/A	INTRINSIC
low complexity region	664	678	N/A	INTRINSIC
Blast:VWA	681	713	2e-8	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000118144
AA Change: S565*

SMART Domains

Protein: ENSMUSP00000113596
Gene: ENSMUSG00000023186
AA Change: S565*

Domain	Start	End	E-Value	Type
VIT	1	131	2.59e-61	SMART
VWA	279	460	2.61e-12	SMART
low complexity region	615	629	N/A	INTRINSIC
low complexity region	664	678	N/A	INTRINSIC
Blast:VWA	681	713	2e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000137972

SMART Domains

Protein: ENSMUSP00000121104
Gene: ENSMUSG00000023186

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
low complexity region	45	59	N/A	INTRINSIC
Blast:VWA	62	94	2e-10	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,760,713 (GRCm39)	N1257Y	probably benign	Het
2310057J18Rik	A	T	10: 28,858,591 (GRCm39)	Y133*	probably null	Het
2310057J18Rik	A	C	10: 28,862,213 (GRCm39)	S26A	possibly damaging	Het
9930012K11Rik	G	T	14: 70,394,116 (GRCm39)	P220T	probably damaging	Het
Adam1b	A	C	5: 121,638,986 (GRCm39)	S686R	probably benign	Het
Adam8	T	C	7: 139,567,489 (GRCm39)	D418G	probably damaging	Het
Adcy8	A	G	15: 64,792,095 (GRCm39)	L287P	probably damaging	Het
Adhfe1	T	A	1: 9,634,080 (GRCm39)	M373K	probably benign	Het
Alpk2	T	C	18: 65,438,106 (GRCm39)	S1096G	probably benign	Het
Ankmy1	A	G	1: 92,812,716 (GRCm39)	V531A	probably benign	Het
Ano3	C	T	2: 110,498,128 (GRCm39)	E738K	probably damaging	Het
Ano4	T	A	10: 88,807,194 (GRCm39)	I796F	probably damaging	Het
Apeh	T	C	9: 107,969,790 (GRCm39)	E190G	probably benign	Het
Atpsckmt	T	C	15: 31,608,317 (GRCm39)	Y123H	probably damaging	Het
Cadm3	A	G	1: 173,165,622 (GRCm39)	L346P	probably damaging	Het
Ccdc9b	A	G	2: 118,591,005 (GRCm39)		probably null	Het
Clec2e	G	A	6: 129,071,388 (GRCm39)	H150Y	possibly damaging	Het
Cnga4	A	T	7: 105,056,042 (GRCm39)	N318Y	probably damaging	Het
Cnr2	T	A	4: 135,644,196 (GRCm39)	F91L	probably damaging	Het
Diaph3	T	A	14: 86,893,835 (GRCm39)	E1147V	probably damaging	Het
Elmo2	T	C	2: 165,133,775 (GRCm39)	T738A	unknown	Het
Exoc4	T	A	6: 33,324,866 (GRCm39)	W387R	probably damaging	Het
Focad	T	C	4: 88,315,237 (GRCm39)	V1379A	unknown	Het
Frmd4a	T	C	2: 4,608,513 (GRCm39)	S794P	probably damaging	Het
Ftl1-ps1	A	G	13: 74,555,170 (GRCm39)	T150A	probably benign	Het
Gm43517	A	T	12: 49,436,409 (GRCm39)		probably benign	Het
Gm5773	C	T	3: 93,680,475 (GRCm39)	A49V	probably benign	Het
Helz	T	A	11: 107,577,247 (GRCm39)	L1867Q	unknown	Het
Il22ra1	A	G	4: 135,461,589 (GRCm39)	H118R	probably benign	Het
Inf2	C	T	12: 112,575,336 (GRCm39)	P856S	unknown	Het
Ints5	T	A	19: 8,873,504 (GRCm39)	L488I	probably damaging	Het
Iqca1l	A	G	5: 24,755,634 (GRCm39)	M296T	possibly damaging	Het
Kifc1	G	A	17: 34,102,177 (GRCm39)	R479C	probably damaging	Het
Lrba	T	A	3: 86,202,708 (GRCm39)	C289*	probably null	Het
Mael	A	G	1: 166,054,196 (GRCm39)	L196S	probably damaging	Het
Med23	T	A	10: 24,755,581 (GRCm39)	S229R	possibly damaging	Het
Mroh9	T	C	1: 162,866,802 (GRCm39)	N645D	probably benign	Het
Myom3	G	A	4: 135,529,059 (GRCm39)	V1132I	probably benign	Het
Naalad2	T	G	9: 18,308,769 (GRCm39)		probably benign	Het
Ndufa13	A	T	8: 70,347,187 (GRCm39)	L71H	probably damaging	Het
Nepro	A	T	16: 44,551,778 (GRCm39)	H212L	probably benign	Het
Nmd3	T	A	3: 69,637,298 (GRCm39)		probably benign	Het
Nox4	T	A	7: 86,954,118 (GRCm39)	L141Q	probably damaging	Het
Or4a81	T	C	2: 89,619,390 (GRCm39)	E102G	probably benign	Het
Or5p53	T	C	7: 107,533,645 (GRCm39)	V306A	probably benign	Het
Or5p58	T	A	7: 107,694,496 (GRCm39)	T94S	probably benign	Het
Or6c215	T	G	10: 129,637,812 (GRCm39)	E194A	probably damaging	Het
Or8s2	T	A	15: 98,276,878 (GRCm39)	M38L	probably benign	Het
Pfpl	A	G	19: 12,407,570 (GRCm39)	D607G	possibly damaging	Het
Pkd1l2	A	T	8: 117,802,921 (GRCm39)	F233L	possibly damaging	Het
Prl6a1	A	G	13: 27,502,678 (GRCm39)		probably benign	Het
Ptprz1	A	T	6: 23,042,750 (GRCm39)	E2058V	probably damaging	Het
Rag1	A	T	2: 101,472,852 (GRCm39)	N763K	probably damaging	Het
Rhbg	A	C	3: 88,155,760 (GRCm39)	D63E	probably damaging	Het
Rrm1	T	A	7: 102,106,472 (GRCm39)	F330L	probably benign	Het
Scaf8	A	T	17: 3,209,568 (GRCm39)	Q97L	unknown	Het
Sdr9c7	G	A	10: 127,734,751 (GRCm39)	V80I	probably benign	Het
Slc18a1	A	G	8: 69,527,799 (GRCm39)	V4A	probably benign	Het
Slco3a1	T	A	7: 74,204,218 (GRCm39)	I41F	probably benign	Het
Slirp	T	C	12: 87,494,370 (GRCm39)	V45A	probably damaging	Het
Spata31	A	T	13: 65,070,618 (GRCm39)	Q922L	probably benign	Het
Spg11	A	G	2: 121,927,802 (GRCm39)	S661P	possibly damaging	Het
Stab2	G	T	10: 86,681,916 (GRCm39)	T2495K	probably benign	Het
Supt16	A	G	14: 52,408,332 (GRCm39)	I871T	probably damaging	Het
Sval2	A	G	6: 41,837,298 (GRCm39)	Q9R	probably damaging	Het
Syngap1	A	T	17: 27,160,426 (GRCm39)	M1L	probably benign	Het
Tfpi	A	T	2: 84,284,266 (GRCm39)	M62K	possibly damaging	Het
Tm4sf1	A	T	3: 57,195,186 (GRCm39)	Y200*	probably null	Het
Tmc1	A	T	19: 20,878,181 (GRCm39)	W105R	probably damaging	Het
Tmtc2	T	C	10: 105,025,987 (GRCm39)	E827G	probably benign	Het
Tollip	T	C	7: 141,446,563 (GRCm39)	I33V	probably benign	Het
Unc80	T	A	1: 66,645,803 (GRCm39)	V1493D	possibly damaging	Het
Vmn2r6	G	A	3: 64,467,245 (GRCm39)	R85W	probably benign	Het
Xbp1	T	A	11: 5,471,910 (GRCm39)	V12D	probably benign	Het

Other mutations in Vwa5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Vwa5a	APN	9	38,649,110 (GRCm39)	splice site	probably null
IGL00966:Vwa5a	APN	9	38,634,675 (GRCm39)	missense	probably benign	0.24
IGL01597:Vwa5a	APN	9	38,645,161 (GRCm39)	missense	probably damaging	1.00
IGL01950:Vwa5a	APN	9	38,638,266 (GRCm39)	missense	probably damaging	1.00
IGL02008:Vwa5a	APN	9	38,649,072 (GRCm39)	missense	probably benign	0.08
IGL02326:Vwa5a	APN	9	38,649,252 (GRCm39)	missense	probably benign
IGL02378:Vwa5a	APN	9	38,645,266 (GRCm39)	missense	probably benign	0.41
IGL02442:Vwa5a	APN	9	38,646,080 (GRCm39)	missense	probably benign	0.02
IGL02458:Vwa5a	APN	9	38,638,259 (GRCm39)	missense	possibly damaging	0.79
IGL02570:Vwa5a	APN	9	38,646,167 (GRCm39)	unclassified	probably benign
IGL03068:Vwa5a	APN	9	38,646,143 (GRCm39)	missense	probably benign	0.45
R0126:Vwa5a	UTSW	9	38,649,103 (GRCm39)	splice site	probably null
R0325:Vwa5a	UTSW	9	38,639,961 (GRCm39)	missense	probably damaging	1.00
R0617:Vwa5a	UTSW	9	38,635,191 (GRCm39)	missense	probably damaging	1.00
R0928:Vwa5a	UTSW	9	38,639,303 (GRCm39)	missense	probably damaging	1.00
R1334:Vwa5a	UTSW	9	38,646,037 (GRCm39)	missense	probably benign	0.01
R1446:Vwa5a	UTSW	9	38,645,264 (GRCm39)	missense	possibly damaging	0.95
R1708:Vwa5a	UTSW	9	38,639,128 (GRCm39)	missense	probably benign
R1986:Vwa5a	UTSW	9	38,649,110 (GRCm39)	splice site	probably benign
R2024:Vwa5a	UTSW	9	38,647,357 (GRCm39)	missense	probably damaging	0.98
R2230:Vwa5a	UTSW	9	38,645,174 (GRCm39)	missense	probably null	1.00
R2252:Vwa5a	UTSW	9	38,639,376 (GRCm39)	missense	probably damaging	1.00
R2278:Vwa5a	UTSW	9	38,634,503 (GRCm39)	missense	probably damaging	1.00
R3912:Vwa5a	UTSW	9	38,646,039 (GRCm39)	missense	probably damaging	0.97
R3913:Vwa5a	UTSW	9	38,646,039 (GRCm39)	missense	probably damaging	0.97
R4172:Vwa5a	UTSW	9	38,635,166 (GRCm39)	missense	probably damaging	0.98
R4244:Vwa5a	UTSW	9	38,649,112 (GRCm39)	splice site	probably benign
R4510:Vwa5a	UTSW	9	38,633,853 (GRCm39)	missense	possibly damaging	0.60
R4511:Vwa5a	UTSW	9	38,633,853 (GRCm39)	missense	possibly damaging	0.60
R4549:Vwa5a	UTSW	9	38,649,221 (GRCm39)	missense	probably benign	0.09
R4591:Vwa5a	UTSW	9	38,646,916 (GRCm39)	missense	possibly damaging	0.94
R4639:Vwa5a	UTSW	9	38,638,410 (GRCm39)	critical splice donor site	probably null
R4811:Vwa5a	UTSW	9	38,647,249 (GRCm39)	missense	probably benign	0.00
R4911:Vwa5a	UTSW	9	38,649,268 (GRCm39)	missense	probably benign	0.03
R4936:Vwa5a	UTSW	9	38,647,494 (GRCm39)	missense	probably benign	0.00
R4989:Vwa5a	UTSW	9	38,633,926 (GRCm39)	missense	probably benign	0.40
R5370:Vwa5a	UTSW	9	38,652,512 (GRCm39)	missense	probably benign	0.02
R5596:Vwa5a	UTSW	9	38,633,874 (GRCm39)	missense	probably damaging	1.00
R5914:Vwa5a	UTSW	9	38,653,038 (GRCm39)	missense	probably benign	0.00
R6207:Vwa5a	UTSW	9	38,633,968 (GRCm39)	missense	probably damaging	1.00
R6486:Vwa5a	UTSW	9	38,645,174 (GRCm39)	missense	probably null	1.00
R7666:Vwa5a	UTSW	9	38,645,259 (GRCm39)	missense	probably benign	0.06
R7683:Vwa5a	UTSW	9	38,646,125 (GRCm39)	missense	probably damaging	1.00
R7763:Vwa5a	UTSW	9	38,652,458 (GRCm39)	missense	possibly damaging	0.93
R7839:Vwa5a	UTSW	9	38,634,799 (GRCm39)	missense	probably damaging	0.98
R7996:Vwa5a	UTSW	9	38,639,124 (GRCm39)	nonsense	probably null
R8491:Vwa5a	UTSW	9	38,652,476 (GRCm39)	missense	probably damaging	0.99
R9572:Vwa5a	UTSW	9	38,649,239 (GRCm39)	missense	probably benign	0.10
X0022:Vwa5a	UTSW	9	38,647,258 (GRCm39)	missense	probably damaging	1.00
X0067:Vwa5a	UTSW	9	38,634,547 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TTTTCCCTGCAACCCAAGGC -3'
(R):5'- ACTGGAGTAGAACCGCATACTAC -3'

Sequencing Primer
(F):5'- CAAGTAAGACTTTATTCAGCCTTGC -3'
(R):5'- GGAGTAGAACCGCATACTACTAGATC -3'

Posted On

2020-01-23