Mutagenetix > Incidental Mutations

Incidental Mutation 'R6298:Vwa3a'

508900

Institutional Source

Beutler Lab

Gene Symbol

Vwa3a

Ensembl Gene

ENSMUSG00000030889

Gene Name

von Willebrand factor A domain containing 3A

Synonyms

E030013G06Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6298 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120739318-120805742 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120795651 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 898 (T898I)

Ref Sequence

ENSEMBL: ENSMUSP00000133029 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000033180
AA Change: T898I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: T898I

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: ENSMUST00000166083

Predicted Effect

probably benign
Transcript: ENSMUST00000166668
AA Change: T898I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: T898I

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: ENSMUST00000167213
AA Change: T898I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: T898I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

98% (79/81)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024P04Rik	T	A	13: 98,984,466	R17S	probably benign	Het
Abtb2	A	T	2: 103,709,488	M733L	probably benign	Het
Acss3	G	A	10: 107,084,856	P131L	probably damaging	Het
Adgrv1	T	A	13: 81,391,767	I5678F	probably benign	Het
Aff1	C	T	5: 103,754,720	L6F	possibly damaging	Het
AI314180	T	G	4: 58,877,157	T93P	probably damaging	Het
Ank3	G	T	10: 69,850,176	R273L	probably damaging	Het
Anks1b	G	A	10: 90,680,837	G898D	probably damaging	Het
Anxa11	C	T	14: 25,872,734	P131S	unknown	Het
Ap4e1	T	A	2: 127,047,115	M500K	probably benign	Het
Bag3	T	C	7: 128,540,198	S138P	probably damaging	Het
Capn9	T	C	8: 124,617,454	V670A	probably benign	Het
Ccne2	T	A	4: 11,199,306	W236R	probably damaging	Het
Cdh23	A	T	10: 60,426,672	Y702*	probably null	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Cit	A	T	5: 115,948,065	E896V	probably damaging	Het
Cntln	T	A	4: 85,096,761	N1096K	probably damaging	Het
Cntnap5c	T	C	17: 58,104,752	C544R	probably damaging	Het
Csf1	A	T	3: 107,748,359	L452Q	possibly damaging	Het
Cts8	T	A	13: 61,249,223	K294N	possibly damaging	Het
D430042O09Rik	T	C	7: 125,870,697	V1446A	probably benign	Het
Dcakd	T	G	11: 102,999,792	E56D	possibly damaging	Het
Dnah17	T	C	11: 118,108,161	I929V	probably benign	Het
Dnah2	G	T	11: 69,491,641	H1214Q	probably benign	Het
Dock9	T	C	14: 121,634,594	D536G	probably damaging	Het
Drc3	A	G	11: 60,393,770	N467S	possibly damaging	Het
Dysf	A	G	6: 84,107,136		probably null	Het
Evpl	A	T	11: 116,230,922	L378Q	probably damaging	Het
Fer1l4	A	T	2: 156,024,740	H1520Q	probably damaging	Het
Fhod1	A	T	8: 105,337,148		probably benign	Het
Gabra1	T	A	11: 42,182,378		probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm14137	A	G	2: 119,175,091	T44A	possibly damaging	Het
Gm9833	T	C	3: 10,089,179	I336T	probably damaging	Het
Herc2	T	C	7: 56,191,265	M3444T	probably benign	Het
Igsf5	T	C	16: 96,396,448	S208P	possibly damaging	Het
Ino80b	A	G	6: 83,125,085	L12P	possibly damaging	Het
Insrr	A	G	3: 87,812,965	D970G	probably damaging	Het
Iqcf4	G	A	9: 106,568,675	A91V	probably benign	Het
Itga10	A	G	3: 96,656,762	T911A	probably benign	Het
Klhl30	A	T	1: 91,357,364	D314V	probably benign	Het
Lpcat1	T	C	13: 73,510,955	V330A	possibly damaging	Het
Nhlrc3	A	T	3: 53,452,523	D306E	possibly damaging	Het
Notum	T	A	11: 120,657,940	I187F	probably damaging	Het
Nphp3	T	C	9: 104,015,441	L288P	probably damaging	Het
Ntrk2	G	T	13: 58,871,756	E394*	probably null	Het
Olfr420	T	A	1: 174,152,182	V222D	probably benign	Het
Pbld2	A	G	10: 63,039,152	K63E	probably benign	Het
Phc2	T	C	4: 128,748,189	M768T	possibly damaging	Het
Pik3c2g	G	A	6: 139,626,563	C249Y	probably damaging	Het
Plod1	G	A	4: 147,916,315		probably benign	Het
Plscr2	A	T	9: 92,290,719	T9S	probably benign	Het
Pnrc1	T	A	4: 33,246,315	M215L	probably benign	Het
Prcp	G	T	7: 92,928,633	C370F	probably damaging	Het
Pter	A	G	2: 12,978,394	N70S	probably damaging	Het
Ptprt	G	T	2: 161,553,859	H1131Q	probably damaging	Het
Rasal2	T	C	1: 157,411,862	D8G	possibly damaging	Het
Rcn2	A	C	9: 56,052,925	K159Q	probably benign	Het
Rex2	T	A	4: 147,057,515	C153*	probably null	Het
Rps6ka2	T	C	17: 7,170,367	F8S	possibly damaging	Het
Samd9l	A	G	6: 3,375,383	L626S	probably damaging	Het
Sptb	A	G	12: 76,620,654		probably null	Het
Srgap3	A	T	6: 112,816,610	V135D	probably damaging	Het
Srsf7	T	C	17: 80,207,253		probably benign	Het
Tacc2	A	G	7: 130,626,525	T1647A	probably benign	Het
Thap12	G	T	7: 98,703,405	A6S	probably damaging	Het
Tmem33	T	A	5: 67,268,551	L146*	probably null	Het
Trip13	C	A	13: 73,936,259	E36*	probably null	Het
Vkorc1l1	T	A	5: 129,942,238	C23S	probably damaging	Het
Vmn1r20	G	A	6: 57,432,127	R146H	probably benign	Het
Vmn1r222	T	A	13: 23,232,795	I83F	probably benign	Het
Vmn2r107	A	T	17: 20,355,782	I125F	probably benign	Het
Vmn2r116	A	G	17: 23,386,762	D216G	probably damaging	Het
Wdfy3	T	C	5: 101,968,946	D76G	probably damaging	Het
Wdhd1	T	C	14: 47,273,122	D148G	possibly damaging	Het
Xylt1	T	C	7: 117,656,737	I844T	probably damaging	Het
Zfp106	A	T	2: 120,522,704	V1535D	probably damaging	Het
Zfp385b	A	T	2: 77,413,979	L315Q	possibly damaging	Het
Zfp458	T	A	13: 67,256,806	H523L	probably damaging	Het
Zfp712	T	C	13: 67,041,329	H378R	probably damaging	Het
Zic1	T	C	9: 91,364,503	Y172C	probably damaging	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
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
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
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'- GTCATGGCACCATTATCCCACC -3'
(R):5'- AGACAGCTCCTGTAGGTAGC -3'

Sequencing Primer
(F):5'- GACCCTGTTTCAAAATTAGGCAGGC -3'
(R):5'- TCCTGTAGGTAGCCTGGAC -3'

Posted On

2018-04-02