Mutagenetix > Incidental Mutation

Incidental Mutation 'R7612:Vwa3a'

588667

Institutional Source

Beutler Lab

Gene Symbol

Vwa3a

Ensembl Gene

ENSMUSG00000030889

Gene Name

von Willebrand factor A domain containing 3A

Synonyms

E030013G06Rik

MMRRC Submission

045680-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7612 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120739318-120805742 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120752615 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 34 (D34V)

Ref Sequence

ENSEMBL: ENSMUSP00000129136 (fasta)

Gene Model

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

AlphaFold

Q3UVV9

Predicted Effect

probably null
Transcript: ENSMUST00000033180
AA Change: D34V

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: D34V

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
AA Change: D34V

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: D34V

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
AA Change: D34V

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: D34V

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: D34V

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132372
Gene: ENSMUSG00000030889
AA Change: D34V

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057N15Rik	A	T	16: 88,773,608	Y181*	probably null	Het
Adgrf2	T	G	17: 42,714,380	K71T	possibly damaging	Het
Brca2	T	A	5: 150,540,611	M1280K	probably benign	Het
Card14	T	C	11: 119,333,579	S541P	possibly damaging	Het
Ccdc144b	A	T	3: 36,025,357	S261R	possibly damaging	Het
Cd19	G	T	7: 126,414,324	Q98K	possibly damaging	Het
Ceacam5	T	A	7: 17,759,416	I788N	possibly damaging	Het
Cpne2	A	T	8: 94,557,420	I290L	probably benign	Het
Cpsf1	C	T	15: 76,597,009	V1216I	probably benign	Het
Csad	G	A	15: 102,188,922		probably benign	Het
Depdc7	T	A	2: 104,730,508	Q47L	probably benign	Het
Dnajc6	T	A	4: 101,597,926	S105T	probably benign	Het
Dsg4	C	A	18: 20,470,990	P838Q	probably damaging	Het
Efcab3	T	A	11: 105,108,821	Y179N	possibly damaging	Het
Egfr	A	T	11: 16,859,025	N73I	possibly damaging	Het
Eya2	T	C	2: 165,687,737		probably null	Het
Fubp1	A	G	3: 152,218,015	Q123R	possibly damaging	Het
Galns	A	G	8: 122,584,954	I439T	possibly damaging	Het
Gsdmd	T	G	15: 75,864,954	L140R	probably damaging	Het
Hcrtr1	A	G	4: 130,135,685	V201A	possibly damaging	Het
Ildr2	T	A	1: 166,307,792	M371K	probably benign	Het
Kalrn	G	A	16: 34,314,212	T412I	possibly damaging	Het
Kdm5b	C	T	1: 134,624,918	Q1211*	probably null	Het
Loxhd1	T	C	18: 77,429,975	S1840P	possibly damaging	Het
Maml2	A	G	9: 13,706,485	M376V	probably benign	Het
Mgat4e	T	C	1: 134,542,007	T100A	probably damaging	Het
Myo18b	T	A	5: 112,865,302	T812S	possibly damaging	Het
Nanp	T	A	2: 151,039,238	E30V	probably null	Het
Olfr1212	T	G	2: 88,958,505	L13R	probably damaging	Het
Olfr1369-ps1	G	T	13: 21,116,047	M118I	probably damaging	Het
Olfr203	A	T	16: 59,303,627	H158L	probably damaging	Het
Parp3	T	A	9: 106,474,194	N241I	probably benign	Het
Piezo2	T	C	18: 63,042,539	N1924D	probably benign	Het
Pou1f1	A	G	16: 65,529,925	N137S	probably damaging	Het
Ptgdr	A	G	14: 44,858,637	M206T	probably damaging	Het
Ptprd	T	C	4: 76,086,459	T20A	probably benign	Het
Rexo1	G	C	10: 80,549,663	S520R	probably benign	Het
Sgip1	T	A	4: 102,869,808	S94T	probably benign	Het
Slc35e3	A	G	10: 117,740,880	V182A	probably benign	Het
Slfn2	A	G	11: 83,070,263	E356G	probably damaging	Het
Spry4	C	A	18: 38,589,929	K260N	probably damaging	Het
Sync	A	T	4: 129,293,582	M136L	probably benign	Het
Tm7sf2	A	G	19: 6,070,608	V425A	probably benign	Het
Trim21	T	A	7: 102,559,535	M326L	probably benign	Het
Trim62	A	G	4: 128,896,884	Q158R	probably benign	Het
Tubgcp2	T	A	7: 140,001,051	K663M	probably damaging	Het
Uggt1	T	C	1: 36,163,235	I1094V	probably damaging	Het
Urb1	A	G	16: 90,797,910	S245P	probably damaging	Het
Zbtb45	C	T	7: 13,007,399	A311T	possibly damaging	Het
Zfp655	T	C	5: 145,237,189	S135P	unknown	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
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'- CCCATTAGGAACCCAAAGGG -3'
(R):5'- CTCCTCGTTCATTTCTAAATCTAGGGG -3'

Sequencing Primer
(F):5'- CCAAAGGGGACGGAGAGG -3'
(R):5'- TTTCTAAATCTAGGGGGCTACAGAG -3'

Posted On

2019-10-24