Mutagenetix > Incidental Mutation

Incidental Mutation 'R1145:Vwa3a'

165071

Institutional Source

Beutler Lab

Gene Symbol

Vwa3a

Ensembl Gene

ENSMUSG00000030889

Gene Name

von Willebrand factor A domain containing 3A

Synonyms

E030013G06Rik

MMRRC Submission

039218-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1145 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120739318-120805742 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120793343 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 802 (Y802H)

Ref Sequence

ENSEMBL: ENSMUSP00000133029 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033180] [ENSMUST00000165055] [ENSMUST00000166668] [ENSMUST00000167213] [ENSMUST00000168430] [ENSMUST00000168600]

AlphaFold

Q3UVV9

Predicted Effect

probably damaging
Transcript: ENSMUST00000033180
AA Change: Y802H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: Y802H

Domain	Start	End	E-Value	Type
Pfam:VWA_3	142	297	6.3e-30	PFAM
Pfam:VWA_3	483	634	1.2e-17	PFAM
VWA	921	1092	1.89e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165055

SMART Domains

Protein: ENSMUSP00000129672
Gene: ENSMUSG00000030889

Domain	Start	End	E-Value	Type
Blast:VWA	1	162	1e-94	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000166083

Predicted Effect

probably damaging
Transcript: ENSMUST00000166668
AA Change: Y802H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: Y802H

Domain	Start	End	E-Value	Type
Pfam:VWA_3	142	297	1.3e-28	PFAM
Pfam:VWA_3	483	633	5.2e-17	PFAM
VWA	921	1092	1.89e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000167213
AA Change: Y802H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: Y802H

Domain	Start	End	E-Value	Type
Pfam:VWA_3	142	297	1.3e-28	PFAM
Pfam:VWA_3	483	633	5.2e-17	PFAM
VWA	921	1092	1.89e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168430

Predicted Effect

probably benign
Transcript: ENSMUST00000168600

SMART Domains

Protein: ENSMUSP00000132372
Gene: ENSMUSG00000030889

Domain	Start	End	E-Value	Type
Pfam:VWA_3	142	297	8.3e-29	PFAM
Pfam:VWA_3	483	609	5.3e-17	PFAM

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 94.8%
20x: 88.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	C	16: 56,668,276	S1257P	possibly damaging	Het
AC159637.1	C	T	12: 93,928,280		noncoding transcript	Het
Agk	T	C	6: 40,352,438		probably benign	Het
Arhgef5	C	A	6: 43,273,088	Q258K	possibly damaging	Het
Armc4	G	T	18: 7,268,436	P361Q	probably damaging	Het
C1s1	C	A	6: 124,540,800	D74Y	probably damaging	Het
Cpxm2	A	G	7: 132,057,648	S497P	probably damaging	Het
Ctsj	C	T	13: 61,002,543	S214N	probably damaging	Het
Dnali1	T	C	4: 125,065,547	S18G	possibly damaging	Het
Eif4g3	C	T	4: 138,165,818	T959M	probably damaging	Het
Eml6	A	G	11: 29,777,430	F1231L	probably benign	Het
Glp1r	T	C	17: 30,919,432	V160A	probably benign	Het
Gm11143	T	G	6: 69,617,408	V60G	unknown	Het
Hmcn1	A	T	1: 150,679,607		probably null	Het
Inpp5k	T	C	11: 75,633,459		probably benign	Het
Krtdap	A	T	7: 30,789,550		probably benign	Het
Ldb2	A	G	5: 44,532,674	L201P	probably damaging	Het
Loxl4	A	T	19: 42,608,555		probably benign	Het
Otud6b	T	A	4: 14,812,532	T272S	probably benign	Het
Pnpla2	T	C	7: 141,455,416	Y44H	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Sel1l3	C	T	5: 53,131,827	R884H	probably damaging	Het
Slc43a2	T	A	11: 75,566,989	Y363*	probably null	Het
Taf2	GCTTCTTCTTCTTCTTCTT	GCTTCTTCTTCTTCTT	15: 55,016,461		probably benign	Het
Tap2	C	A	17: 34,215,940	D652E	possibly damaging	Het
Unc80	T	C	1: 66,472,088	V85A	probably damaging	Het
Zc3h4	G	A	7: 16,416,913	R60Q	possibly damaging	Het
Zfp385a	A	T	15: 103,317,943		probably benign	Het

Other mutations in Vwa3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01584:Vwa3a	APN	7	120783974	missense	probably benign	0.09
IGL01807:Vwa3a	APN	7	120775506	splice site	probably null
IGL02850:Vwa3a	APN	7	120773292	missense	probably benign	0.00
IGL03253:Vwa3a	APN	7	120778869	missense	probably benign	0.03
PIT4812001:Vwa3a	UTSW	7	120776133	missense	probably damaging	1.00
R0026:Vwa3a	UTSW	7	120780211	missense	probably damaging	1.00
R0114:Vwa3a	UTSW	7	120775380	missense	probably benign	0.06
R1145:Vwa3a	UTSW	7	120793343	missense	probably damaging	0.99
R1306:Vwa3a	UTSW	7	120800390	missense	possibly damaging	0.49
R1355:Vwa3a	UTSW	7	120784111	missense	probably damaging	1.00
R1412:Vwa3a	UTSW	7	120780154	missense	probably damaging	1.00
R1466:Vwa3a	UTSW	7	120768165	missense	probably damaging	1.00
R1466:Vwa3a	UTSW	7	120768165	missense	probably damaging	1.00
R1584:Vwa3a	UTSW	7	120768165	missense	probably damaging	1.00
R1686:Vwa3a	UTSW	7	120780148	missense	probably damaging	1.00
R1710:Vwa3a	UTSW	7	120804031	splice site	probably null
R1717:Vwa3a	UTSW	7	120793386	missense	probably benign
R1834:Vwa3a	UTSW	7	120790136	missense	probably benign	0.06
R1912:Vwa3a	UTSW	7	120795627	missense	probably damaging	1.00
R1970:Vwa3a	UTSW	7	120780171	missense	probably damaging	1.00
R1978:Vwa3a	UTSW	7	120758954	missense	probably null	0.00
R2034:Vwa3a	UTSW	7	120782645	nonsense	probably null
R2059:Vwa3a	UTSW	7	120758949	missense	probably damaging	0.98
R2120:Vwa3a	UTSW	7	120792418	missense	probably benign
R2408:Vwa3a	UTSW	7	120773294	missense	probably benign	0.00
R3423:Vwa3a	UTSW	7	120799111	missense	probably damaging	1.00
R3744:Vwa3a	UTSW	7	120752594	missense	probably benign
R3816:Vwa3a	UTSW	7	120800379	missense	probably benign	0.29
R3849:Vwa3a	UTSW	7	120762464	nonsense	probably null
R3904:Vwa3a	UTSW	7	120758876	missense	probably benign
R4031:Vwa3a	UTSW	7	120768232	critical splice donor site	probably null
R4408:Vwa3a	UTSW	7	120778926	missense	probably benign	0.16
R4628:Vwa3a	UTSW	7	120793375	missense	probably benign	0.05
R4629:Vwa3a	UTSW	7	120793375	missense	probably benign	0.05
R4652:Vwa3a	UTSW	7	120778915	missense	probably damaging	0.96
R4884:Vwa3a	UTSW	7	120791701	missense	probably benign
R4948:Vwa3a	UTSW	7	120776264	missense	probably damaging	0.98
R5112:Vwa3a	UTSW	7	120783985	missense	probably damaging	1.00
R5385:Vwa3a	UTSW	7	120790142	missense	possibly damaging	0.91
R5386:Vwa3a	UTSW	7	120790142	missense	possibly damaging	0.91
R5579:Vwa3a	UTSW	7	120768173	missense	probably benign	0.29
R5587:Vwa3a	UTSW	7	120780235	missense	probably damaging	1.00
R5639:Vwa3a	UTSW	7	120790143	missense	probably damaging	0.99
R6102:Vwa3a	UTSW	7	120776138	splice site	probably null
R6239:Vwa3a	UTSW	7	120794234	missense	probably benign	0.00
R6279:Vwa3a	UTSW	7	120782400	missense	probably damaging	0.98
R6298:Vwa3a	UTSW	7	120795651	missense	probably benign	0.01
R6300:Vwa3a	UTSW	7	120782400	missense	probably damaging	0.98
R6336:Vwa3a	UTSW	7	120762423	missense	possibly damaging	0.93
R6907:Vwa3a	UTSW	7	120792581	unclassified	probably benign
R7135:Vwa3a	UTSW	7	120773030	missense	possibly damaging	0.69
R7215:Vwa3a	UTSW	7	120795630	missense	possibly damaging	0.83
R7282:Vwa3a	UTSW	7	120786465	missense	probably benign	0.03
R7351:Vwa3a	UTSW	7	120776336	missense	probably damaging	0.99
R7406:Vwa3a	UTSW	7	120778915	missense	probably damaging	0.96
R7557:Vwa3a	UTSW	7	120795618	missense	possibly damaging	0.90
R7612:Vwa3a	UTSW	7	120752615	missense	probably null	0.47
R7699:Vwa3a	UTSW	7	120752618	missense	probably damaging	1.00
R7823:Vwa3a	UTSW	7	120772962	missense	probably damaging	1.00
R8074:Vwa3a	UTSW	7	120799098	missense	probably benign	0.00
R8730:Vwa3a	UTSW	7	120782687	missense	probably damaging	0.97
R8768:Vwa3a	UTSW	7	120776076	missense	probably damaging	1.00
R8941:Vwa3a	UTSW	7	120776088	missense	probably benign	0.00
R9116:Vwa3a	UTSW	7	120767247	missense
R9134:Vwa3a	UTSW	7	120778436	missense	probably damaging	0.96
R9264:Vwa3a	UTSW	7	120775464	missense	probably benign
R9450:Vwa3a	UTSW	7	120804030	critical splice donor site	probably null
R9464:Vwa3a	UTSW	7	120786459	missense	possibly damaging	0.84
V7732:Vwa3a	UTSW	7	120778949	splice site	probably benign
X0019:Vwa3a	UTSW	7	120768209	missense	probably damaging	0.99
Z1177:Vwa3a	UTSW	7	120759133	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCTGGACTCCTTGCTAAATGGAGA -3'
(R):5'- ATGCCACAGTAAGCAGGCATTCTT -3'

Sequencing Primer
(F):5'- CTCCTTGCTAAATGGAGAATGGG -3'
(R):5'- AAATGACTAAGGGGCACGTG -3'

Posted On

2014-03-28