Mutagenetix > Incidental Mutation

Incidental Mutation 'R6102:Vwa3a'

485309

Institutional Source

Beutler Lab

Gene Symbol

Vwa3a

Ensembl Gene

ENSMUSG00000030889

Gene Name

von Willebrand factor A domain containing 3A

Synonyms

E030013G06Rik

MMRRC Submission

044252-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6102 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120739318-120805742 bp(+) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 120776138 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133029 (fasta)

Gene Model

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

AlphaFold

Q3UVV9

Predicted Effect

probably null
Transcript: ENSMUST00000033180

SMART Domains

Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889

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 null
Transcript: ENSMUST00000033180

SMART Domains

Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889

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 null
Transcript: ENSMUST00000166668

SMART Domains

Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889

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 null
Transcript: ENSMUST00000166668

SMART Domains

Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889

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 null
Transcript: ENSMUST00000167213

SMART Domains

Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889

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 null
Transcript: ENSMUST00000167213

SMART Domains

Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889

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: 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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

97% (65/67)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12e	A	G	11: 70,320,023	I290T	possibly damaging	Het
Apeh	T	A	9: 108,086,439	D559V	probably damaging	Het
Aspm	T	A	1: 139,477,459	Y1361*	probably null	Het
Atad5	G	T	11: 80,111,572		probably null	Het
Ccr4	C	T	9: 114,496,493		probably null	Het
Clasrp	G	A	7: 19,586,468		probably benign	Het
Cldn23	A	G	8: 35,825,551	M261T	probably benign	Het
Cmya5	T	C	13: 93,094,231	M1450V	probably benign	Het
Cyp4v3	T	A	8: 45,320,160	E202V	probably damaging	Het
Dnah7a	A	T	1: 53,559,140	V1412E	probably benign	Het
Dnah9	A	G	11: 65,990,516	S2578P	probably damaging	Het
Dsc2	T	A	18: 20,047,108	Y196F	probably benign	Het
Exoc1	T	C	5: 76,537,779	S113P	probably damaging	Het
Fbxo6	A	T	4: 148,149,522	I39N	probably damaging	Het
Frs3	C	T	17: 47,702,671	H173Y	probably damaging	Het
Ginm1	G	T	10: 7,768,496	T323K	probably benign	Het
Golgb1	T	C	16: 36,912,865	S825P	probably damaging	Het
Hs3st3b1	A	T	11: 63,921,855	C11*	probably null	Het
Ighv3-3	G	C	12: 114,196,460	A110G	possibly damaging	Het
Igkv6-20	G	A	6: 70,335,869	H107Y	probably benign	Het
Kcnj16	A	G	11: 111,025,577	E355G	probably benign	Het
Lig4	C	T	8: 9,972,872	G303S	probably damaging	Het
Map1b	A	C	13: 99,425,873	V2443G	unknown	Het
Map3k6	T	C	4: 133,247,131		probably null	Het
Mmp13	A	G	9: 7,276,688	Q261R	probably benign	Het
Mphosph9	T	A	5: 124,297,709	I554F	possibly damaging	Het
Mrgpra3	A	T	7: 47,590,149	F10I	possibly damaging	Het
Ms4a18	G	A	19: 11,013,523	T69I	probably benign	Het
Mtmr3	T	C	11: 4,487,673	N927S	probably damaging	Het
Necab1	T	A	4: 14,989,211	Q188L	probably benign	Het
Nfatc2	A	G	2: 168,519,507		probably benign	Het
Olfr152	T	C	2: 87,782,848	F103L	probably damaging	Het
Olfr495	T	C	7: 108,395,284	S55P	probably damaging	Het
Olfr854	T	C	9: 19,567,022	M121V	possibly damaging	Het
Paip2b	A	C	6: 83,808,846	V134G	possibly damaging	Het
Pax3	T	C	1: 78,132,347	T225A	probably damaging	Het
Pbx1	C	A	1: 168,183,565	A298S	probably benign	Het
Pcdhac2	A	T	18: 37,146,282	K772*	probably null	Het
Pcsk4	A	T	10: 80,325,817	Y163*	probably null	Het
Plcd3	A	G	11: 103,080,644	V58A	probably damaging	Het
Plek2	T	A	12: 78,900,093	T57S	possibly damaging	Het
Plscr2	C	T	9: 92,287,668	T57I	probably benign	Het
Ppp2r5b	A	G	19: 6,234,738	S32P	probably benign	Het
Ppp3r2	C	T	4: 49,682,022		probably benign	Het
Psme4	T	A	11: 30,865,567	L1693H	probably damaging	Het
Rrbp1	T	A	2: 143,988,393	Q618L	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Serpina3b	A	T	12: 104,134,169	T337S	probably benign	Het
Slc18a2	T	C	19: 59,293,878	Y506H	probably benign	Het
Slc9a9	A	G	9: 94,936,429	Y292C	probably benign	Het
Spta1	T	C	1: 174,224,520	V1840A	probably benign	Het
Ssb	T	C	2: 69,871,208	*416Q	probably null	Het
Strada	A	G	11: 106,168,436	V209A	probably benign	Het
Tbc1d31	A	T	15: 57,936,093	D225V	probably damaging	Het
Tgm4	T	C	9: 123,056,535	F381L	probably benign	Het
Tmem120b	T	A	5: 123,115,144	Y203N	probably damaging	Het
Tmem176b	A	G	6: 48,835,934	V109A	probably benign	Het
Tnfrsf11a	C	A	1: 105,819,946	L201M	possibly damaging	Het
Ttn	C	A	2: 76,974,350		probably null	Het
Tubb2a	T	C	13: 34,075,343	I155V	probably benign	Het
Vmn1r5	A	G	6: 56,986,114	D258G	probably damaging	Het
Vmn2r121	T	C	X: 124,133,575	T120A	probably benign	Het
Vmn2r19	A	T	6: 123,329,948	I472F	probably damaging	Het
Zfp273	A	G	13: 67,822,347	Y5C	probably damaging	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het
Zfp825	A	G	13: 74,480,653	L248P	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
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'- TTTAAGAAGCGCCACACAGG -3'
(R):5'- GGGCACAAATTCTTCCACAGG -3'

Sequencing Primer
(F):5'- CAGCTCTAAAATGTGCTGTGTAACGG -3'
(R):5'- CTTCCACAGGATTAAAGGCGTTG -3'

Posted On

2017-08-16