Mutagenetix > Incidental Mutation

Incidental Mutation 'R9264:Vwa3a'

702426

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9264 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120739318-120805742 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120775464 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 333 (N333S)

Ref Sequence

ENSEMBL: ENSMUSP00000129136 (fasta)

Gene Model

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

AlphaFold

Q3UVV9

Predicted Effect

probably benign
Transcript: ENSMUST00000033180
AA Change: N333S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: N333S

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: ENSMUST00000166668
AA Change: N333S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: N333S

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: N333S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: N333S

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
AA Change: N333S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000132372
Gene: ENSMUSG00000030889
AA Change: N333S

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	T	A	19: 11,116,466	M1L	probably benign	Het
Abca15	A	T	7: 120,401,833	I1531L	probably benign	Het
Adam28	T	C	14: 68,607,465	Y791C	probably benign	Het
Ankrd40	T	A	11: 94,338,361	I262N	probably damaging	Het
BC067074	G	A	13: 113,319,480	V687M		Het
Catsperg2	A	T	7: 29,698,188	N1033K	possibly damaging	Het
Cdh10	A	T	15: 18,963,995	D81V	probably damaging	Het
Cep290	T	C	10: 100,498,016	V310A	possibly damaging	Het
Cep78	T	C	19: 15,974,466	Y325C	probably damaging	Het
Clstn3	T	A	6: 124,459,768	D197V	probably damaging	Het
Col11a1	T	C	3: 114,212,160	I1647T	unknown	Het
Col5a1	G	A	2: 27,964,111	R569K	unknown	Het
Cyp4a10	T	C	4: 115,524,278	S180P	probably benign	Het
D630045J12Rik	T	C	6: 38,158,238	I1336V	probably benign	Het
Dchs2	G	A	3: 83,270,477	V946M	probably damaging	Het
Dnah10	A	G	5: 124,736,836	R347G	probably damaging	Het
Dnah11	T	A	12: 118,027,527	D2368V	probably damaging	Het
Ganab	T	C	19: 8,912,864	I719T	possibly damaging	Het
Gm10944	C	A	10: 10,681,839	A11D	unknown	Het
Gmcl1	T	C	6: 86,714,213	M267V	probably benign	Het
Inhbe	T	A	10: 127,350,558	D251V	probably damaging	Het
Kcnj1	G	A	9: 32,396,358	R26Q	probably benign	Het
Lama5	A	G	2: 180,196,478		probably benign	Het
Lin9	T	A	1: 180,667,347	D251E	probably damaging	Het
Magel2	T	A	7: 62,378,596	I416N	possibly damaging	Het
Mdga2	T	C	12: 66,513,283	N772S	probably damaging	Het
Msh3	G	T	13: 92,349,304	Q171K	probably benign	Het
Mslnl	T	G	17: 25,742,532		probably benign	Het
Mtpn	A	G	6: 35,512,241	L116P	possibly damaging	Het
Myh7	T	C	14: 54,975,997	T1351A	probably benign	Het
Nectin3	A	T	16: 46,454,635	I353N	probably damaging	Het
Nprl3	A	T	11: 32,233,948	N500K	probably benign	Het
Nup93	T	A	8: 94,292,720	I181N	probably benign	Het
Olfr1198	T	C	2: 88,746,432	H152R	probably damaging	Het
Olfr362	G	A	2: 37,104,789	T287I	probably damaging	Het
Optc	T	C	1: 133,905,240	I41V	probably benign	Het
Pcdh7	C	A	5: 58,129,321	N1246K	probably benign	Het
Pcdhb3	T	A	18: 37,302,113	D377E	probably benign	Het
Pnpla6	C	T	8: 3,523,294	P386L	probably benign	Het
Polr3a	T	C	14: 24,470,831	T587A	probably benign	Het
Pramel1	T	G	4: 143,398,529	L341R	probably damaging	Het
Rhot2	A	T	17: 25,841,766	N210K	probably damaging	Het
Slc37a1	A	G	17: 31,300,485	I12V	probably benign	Het
Spata48	T	A	11: 11,464,678	D141E		Het
Sstr3	G	T	15: 78,539,592	N318K	probably damaging	Het
Ssx2ip	T	C	3: 146,437,200	V511A	probably benign	Het
Stfa1	G	A	16: 36,280,568	V57I	unknown	Het
Syne1	T	G	10: 5,262,793	R3265S	probably damaging	Het
Tacc2	G	T	7: 130,626,803	K1739N	probably damaging	Het
Tas2r143	A	T	6: 42,400,739	M168L	probably benign	Het
Tm4sf1	A	T	3: 57,294,610		probably null	Het
Ttc16	A	G	2: 32,763,005	I604T	possibly damaging	Het
Ugt1a10	T	A	1: 88,055,671	W64R	possibly damaging	Het
Usp34	A	T	11: 23,489,064	H3561L		Het
Vasp	C	T	7: 19,259,451	V276I	unknown	Het
Wipf3	A	G	6: 54,483,881	N105D	probably benign	Het
Zfp760	T	C	17: 21,723,682	S613P	possibly 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
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
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'- AACTGACTTGGCTGCTTGC -3'
(R):5'- AGTGAAAGTGACCAGTCCCC -3'

Sequencing Primer
(F):5'- GCCTTCTCTTACCTTGGCAACG -3'
(R):5'- TAGGGAGCCTTGAACTGACC -3'

Posted On

2022-03-25