Mutagenetix > Incidental Mutation

Incidental Mutation 'R4652:Vwa3a'

351387

Institutional Source

Beutler Lab

Gene Symbol

Vwa3a

Ensembl Gene

ENSMUSG00000030889

Gene Name

von Willebrand factor A domain containing 3A

Synonyms

E030013G06Rik

MMRRC Submission

041912-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4652 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120739318-120805742 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120778915 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 476 (I476N)

Ref Sequence

ENSEMBL: ENSMUSP00000133029 (fasta)

Gene Model

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

AlphaFold

Q3UVV9

Predicted Effect

probably damaging
Transcript: ENSMUST00000033180
AA Change: I476N

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: I476N

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 damaging
Transcript: ENSMUST00000166668
AA Change: I476N

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: I476N

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: I476N

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: I476N

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

possibly damaging
Transcript: ENSMUST00000168600
AA Change: I476N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132372
Gene: ENSMUSG00000030889
AA Change: I476N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207721

Meta Mutation Damage Score

0.7813

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

95% (111/117)

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	A	8: 124,639,611	Q131L	probably damaging	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
4933409G03Rik	G	A	2: 68,606,215	E168K	unknown	Het
A830018L16Rik	C	A	1: 11,537,342		probably benign	Het
Adam26b	A	G	8: 43,521,338	V209A	possibly damaging	Het
Adh6a	T	A	3: 138,326,115	M256K	probably benign	Het
Ahnak2	T	G	12: 112,774,837	S128R	possibly damaging	Het
Angptl2	G	T	2: 33,243,883	D406Y	probably damaging	Het
Ano10	A	T	9: 122,261,115	Y377*	probably null	Het
Arfgef1	C	T	1: 10,173,262	D1021N	probably damaging	Het
Arhgap17	G	A	7: 123,286,618		probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atp10b	G	A	11: 43,194,645	G284S	probably damaging	Het
Atp13a4	A	T	16: 29,452,603	D498E	probably damaging	Het
C4a	T	A	17: 34,810,131		noncoding transcript	Het
Cacna1d	C	T	14: 30,095,408	M1232I	probably benign	Het
Camsap3	A	C	8: 3,600,689	K223T	possibly damaging	Het
Cast	A	G	13: 74,746,014	S171P	probably benign	Het
Cdh8	T	A	8: 99,024,859	D742V	probably benign	Het
Ceacam12	A	G	7: 18,067,434	T113A	probably damaging	Het
Cers3	G	A	7: 66,781,856		probably null	Het
Cipc	T	C	12: 86,962,090	V241A	probably benign	Het
Cntn5	C	A	9: 9,704,912	K832N	possibly damaging	Het
Col12a1	A	T	9: 79,612,946	D2815E	probably damaging	Het
Ctf2	T	C	7: 127,719,384	T148A	probably benign	Het
Cttnbp2	A	G	6: 18,434,038	I607T	possibly damaging	Het
Cux1	A	T	5: 136,567,229	N4K	probably damaging	Het
Dhx36	A	T	3: 62,500,998	L140M	probably benign	Het
Dhx58	T	A	11: 100,701,359	N288Y	probably damaging	Het
Dlgap1	T	A	17: 70,761,095	Y554N	probably damaging	Het
Dnah10	T	C	5: 124,729,143	Y127H	probably benign	Het
Dnah6	T	C	6: 73,070,597	M3140V	probably benign	Het
Dnd1	G	A	18: 36,765,061		probably benign	Het
Dpy19l1	A	C	9: 24,482,054	S140A	possibly damaging	Het
Dyrk1a	C	T	16: 94,692,065	T719I	probably benign	Het
Erlin1	T	A	19: 44,040,792	K234*	probably null	Het
Fndc7	T	C	3: 108,862,819	N597S	probably benign	Het
Folh1	C	A	7: 86,744,425	G360*	probably null	Het
Frmd4b	T	C	6: 97,295,755	H846R	probably benign	Het
Gm10375	C	A	14: 43,606,869		probably null	Het
Gm27047	T	C	6: 130,630,516		noncoding transcript	Het
Gm7168	A	G	17: 13,949,807	R479G	possibly damaging	Het
Gm9996	T	A	10: 29,143,758		probably benign	Het
Gnat3	T	A	5: 18,015,570	L247H	probably damaging	Het
H2-D1	T	G	17: 35,266,516		probably null	Het
Hpf1	T	G	8: 60,893,730	S26R	possibly damaging	Het
Ift80	T	A	3: 68,914,940	N627I	probably benign	Het
Inpp5d	A	G	1: 87,665,451	K91R	probably benign	Het
Irgc1	C	A	7: 24,432,813	R193L	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lamc1	T	G	1: 153,228,777	S59R	probably damaging	Het
Lrrc9	T	C	12: 72,477,386	W790R	probably damaging	Het
Man1a2	A	G	3: 100,632,561	L188P	probably damaging	Het
Med8	A	T	4: 118,410,892	E5V	probably damaging	Het
Mefv	A	G	16: 3,717,818	L82P	probably damaging	Het
Mettl25	A	T	10: 105,779,648	C498*	probably null	Het
Mettl3	T	A	14: 52,295,092	I545F	probably damaging	Het
Mvp	T	A	7: 126,993,549	I397F	probably damaging	Het
Nlrp14	A	T	7: 107,181,817	I74F	probably benign	Het
Nudt5	G	A	2: 5,856,065		probably benign	Het
Nyap2	T	A	1: 81,336,729	D713E	probably damaging	Het
Obscn	G	A	11: 59,038,877	R5824C	probably damaging	Het
Olfr1310	G	T	2: 112,008,250	S312Y	probably damaging	Het
Olfr807	T	C	10: 129,755,418	I11V	probably benign	Het
Orc4	A	T	2: 48,936,750		probably benign	Het
Pde10a	T	A	17: 8,757,053	N3K	possibly damaging	Het
Pgm3	T	A	9: 86,558,470	R389S	probably benign	Het
Piwil4	G	A	9: 14,712,308	R529*	probably null	Het
Pkd2l2	A	T	18: 34,409,836	R20*	probably null	Het
Ppp4r3a	T	A	12: 101,082,911		probably benign	Het
Prkcq	T	C	2: 11,279,522	V501A	possibly damaging	Het
Prkg1	T	C	19: 30,595,012	T400A	probably damaging	Het
Prps2	T	C	X: 167,352,292	D183G	probably damaging	Het
Prrc2c	A	T	1: 162,723,274	H40Q	probably damaging	Het
Ptcd1	A	T	5: 145,155,175	H371Q	probably benign	Het
Ptprk	T	C	10: 28,263,690	I137T	probably damaging	Het
R3hdm1	T	C	1: 128,184,444	S422P	probably damaging	Het
Rapgef5	G	A	12: 117,714,128	G366E	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,579,919		probably benign	Het
Setd2	A	G	9: 110,594,132	D2085G	possibly damaging	Het
Sfxn3	A	G	19: 45,050,874		probably null	Het
Sgce	T	C	6: 4,689,560		probably benign	Het
Sipa1l1	T	A	12: 82,422,471	L1248*	probably null	Het
Skint7	T	G	4: 111,982,112	M201R	probably damaging	Het
Slc18a1	A	G	8: 69,043,931	M360T	possibly damaging	Het
Srp68	A	T	11: 116,274,014	S31R	probably benign	Het
Stag1	T	A	9: 100,796,716	M230K	probably damaging	Het
Strc	A	T	2: 121,374,348	D985E	possibly damaging	Het
Tarsl2	T	A	7: 65,689,969	V704E	probably damaging	Het
Tbc1d2b	A	G	9: 90,207,887	F863S	probably damaging	Het
Tek	T	C	4: 94,780,884	S41P	probably damaging	Het
Top1	T	C	2: 160,712,717	Y463H	probably damaging	Het
Trim24	T	G	6: 37,957,839		probably null	Het
Ttn	A	G	2: 76,746,635	V24638A	possibly damaging	Het
Ttn	A	G	2: 76,870,869		probably benign	Het
Txndc11	A	G	16: 11,075,122	S915P	probably benign	Het
Tyro3	G	C	2: 119,816,868	G826A	probably benign	Het
Ubxn4	T	A	1: 128,274,850	W410R	probably benign	Het
Vmn1r193	C	T	13: 22,219,525	G99D	probably damaging	Het
Vmn2r109	T	A	17: 20,541,394	K567M	probably damaging	Het
Vmn2r23	T	C	6: 123,741,730	F681L	probably damaging	Het
Vrk2	T	C	11: 26,489,803	D256G	probably damaging	Het
Wdr81	A	G	11: 75,451,240	V1067A	probably damaging	Het
Zcwpw2	A	G	9: 118,014,051		noncoding transcript	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
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
R9792:Vwa3a	UTSW	7	120784084	missense	probably damaging	1.00
R9793:Vwa3a	UTSW	7	120784084	missense	probably damaging	1.00
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'- ATGGACTTGCATCTTCCCTAAC -3'
(R):5'- CTCTGTTGCTTCTAACTCAAAGAGTC -3'

Sequencing Primer
(F):5'- CCTGTATAAACCATTTCCAGAAGCTG -3'
(R):5'- GCTTCTAACTCAAAGAGTCTTGAGAG -3'

Posted On

2015-10-08