Mutagenetix > Incidental Mutation

Incidental Mutation 'R6907:Vwa3a'

538822

Institutional Source

Beutler Lab

Gene Symbol

Vwa3a

Ensembl Gene

ENSMUSG00000030889

Gene Name

von Willebrand factor A domain containing 3A

Synonyms

E030013G06Rik

MMRRC Submission

044999-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6907 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120338541-120404965 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 120391804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132372 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033180] [ENSMUST00000165055] [ENSMUST00000166668] [ENSMUST00000167213] [ENSMUST00000168430] [ENSMUST00000168600]

AlphaFold

Q3UVV9

Predicted Effect

probably benign
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 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 benign
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 benign
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: ENSMUST00000168430

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

97% (38/39)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	T	C	8: 112,698,793 (GRCm39)	I344V	probably benign	Het
Bmper	A	T	9: 23,310,868 (GRCm39)	Q434L	probably damaging	Het
Cabyr	A	G	18: 12,883,969 (GRCm39)	Y152C	probably benign	Het
Cactin	G	A	10: 81,159,278 (GRCm39)		probably null	Het
Cadps2	T	C	6: 23,599,505 (GRCm39)	D238G	probably damaging	Het
Card10	T	C	15: 78,671,671 (GRCm39)	T598A	possibly damaging	Het
Ctr9	C	T	7: 110,629,449 (GRCm39)	P25L	probably damaging	Het
Entpd5	T	C	12: 84,424,127 (GRCm39)	T409A	probably benign	Het
Exd1	A	G	2: 119,363,957 (GRCm39)	V137A	probably damaging	Het
Fcgbp	G	A	7: 27,784,443 (GRCm39)	G168R	probably damaging	Het
Ift88	A	G	14: 57,683,067 (GRCm39)	N248S	probably benign	Het
Kntc1	T	A	5: 123,939,888 (GRCm39)	Y1561N	probably damaging	Het
Mef2c	A	G	13: 83,802,730 (GRCm39)	D227G	probably benign	Het
Myh2	C	T	11: 67,084,567 (GRCm39)	T1702M	probably damaging	Het
Myo1e	T	A	9: 70,234,437 (GRCm39)	N263K	probably benign	Het
Nfe2l1	A	G	11: 96,710,636 (GRCm39)	L373P	probably damaging	Het
Nob1	C	T	8: 108,142,860 (GRCm39)	V274M	possibly damaging	Het
Ntng2	A	G	2: 29,118,218 (GRCm39)	C77R	probably damaging	Het
Nynrin	T	G	14: 56,101,335 (GRCm39)	S335A	probably benign	Het
Or10ad1c	T	C	15: 98,085,649 (GRCm39)	N10D	probably damaging	Het
Or5p55	T	C	7: 107,567,459 (GRCm39)	L285P	probably damaging	Het
Pcdh7	T	A	5: 57,876,471 (GRCm39)	W9R	possibly damaging	Het
Pcdha1	A	G	18: 37,064,124 (GRCm39)	T263A	probably benign	Het
Per3	C	T	4: 151,128,015 (GRCm39)		probably null	Het
Pgbd5	A	G	8: 125,107,021 (GRCm39)	F265L	probably damaging	Het
Ppm1k	T	G	6: 57,487,755 (GRCm39)	E356A	probably benign	Het
Ptgfr	G	T	3: 151,540,938 (GRCm39)	T190K	possibly damaging	Het
Sec24a	A	G	11: 51,603,103 (GRCm39)	Y782H	probably damaging	Het
Setd1b	T	C	5: 123,301,295 (GRCm39)		probably benign	Het
Sfpq	GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC	GCCGCCGCAGCAGCC	4: 126,915,419 (GRCm39)		probably benign	Het
Slc19a2	C	T	1: 164,090,323 (GRCm39)	T253I	possibly damaging	Het
Tcf4	C	T	18: 69,785,484 (GRCm39)	T207M	probably damaging	Het
Thada	T	C	17: 84,700,897 (GRCm39)	N1203S	probably damaging	Het
Tln2	A	T	9: 67,304,917 (GRCm39)	S5T	probably damaging	Het
Traf4	C	T	11: 78,051,268 (GRCm39)	R296Q	probably benign	Het
Ttbk2	A	G	2: 120,655,751 (GRCm39)	S38P	probably benign	Het
Vrk1	G	T	12: 106,041,291 (GRCm39)	Q395H	possibly damaging	Het
Wdsub1	C	T	2: 59,692,028 (GRCm39)	V335I	possibly damaging	Het

Other mutations in Vwa3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01584:Vwa3a	APN	7	120,383,197 (GRCm39)	missense	probably benign	0.09
IGL01807:Vwa3a	APN	7	120,374,729 (GRCm39)	splice site	probably null
IGL02850:Vwa3a	APN	7	120,372,515 (GRCm39)	missense	probably benign	0.00
IGL03253:Vwa3a	APN	7	120,378,092 (GRCm39)	missense	probably benign	0.03
PIT4812001:Vwa3a	UTSW	7	120,375,356 (GRCm39)	missense	probably damaging	1.00
R0026:Vwa3a	UTSW	7	120,379,434 (GRCm39)	missense	probably damaging	1.00
R0114:Vwa3a	UTSW	7	120,374,603 (GRCm39)	missense	probably benign	0.06
R1145:Vwa3a	UTSW	7	120,392,566 (GRCm39)	missense	probably damaging	0.99
R1145:Vwa3a	UTSW	7	120,392,566 (GRCm39)	missense	probably damaging	0.99
R1306:Vwa3a	UTSW	7	120,399,613 (GRCm39)	missense	possibly damaging	0.49
R1355:Vwa3a	UTSW	7	120,383,334 (GRCm39)	missense	probably damaging	1.00
R1412:Vwa3a	UTSW	7	120,379,377 (GRCm39)	missense	probably damaging	1.00
R1466:Vwa3a	UTSW	7	120,367,388 (GRCm39)	missense	probably damaging	1.00
R1466:Vwa3a	UTSW	7	120,367,388 (GRCm39)	missense	probably damaging	1.00
R1584:Vwa3a	UTSW	7	120,367,388 (GRCm39)	missense	probably damaging	1.00
R1686:Vwa3a	UTSW	7	120,379,371 (GRCm39)	missense	probably damaging	1.00
R1710:Vwa3a	UTSW	7	120,403,254 (GRCm39)	splice site	probably null
R1717:Vwa3a	UTSW	7	120,392,609 (GRCm39)	missense	probably benign
R1834:Vwa3a	UTSW	7	120,389,359 (GRCm39)	missense	probably benign	0.06
R1912:Vwa3a	UTSW	7	120,394,850 (GRCm39)	missense	probably damaging	1.00
R1970:Vwa3a	UTSW	7	120,379,394 (GRCm39)	missense	probably damaging	1.00
R1978:Vwa3a	UTSW	7	120,358,177 (GRCm39)	missense	probably null	0.00
R2034:Vwa3a	UTSW	7	120,381,868 (GRCm39)	nonsense	probably null
R2059:Vwa3a	UTSW	7	120,358,172 (GRCm39)	missense	probably damaging	0.98
R2120:Vwa3a	UTSW	7	120,391,641 (GRCm39)	missense	probably benign
R2408:Vwa3a	UTSW	7	120,372,517 (GRCm39)	missense	probably benign	0.00
R3423:Vwa3a	UTSW	7	120,398,334 (GRCm39)	missense	probably damaging	1.00
R3744:Vwa3a	UTSW	7	120,351,817 (GRCm39)	missense	probably benign
R3816:Vwa3a	UTSW	7	120,399,602 (GRCm39)	missense	probably benign	0.29
R3849:Vwa3a	UTSW	7	120,361,687 (GRCm39)	nonsense	probably null
R3904:Vwa3a	UTSW	7	120,358,099 (GRCm39)	missense	probably benign
R4031:Vwa3a	UTSW	7	120,367,455 (GRCm39)	critical splice donor site	probably null
R4408:Vwa3a	UTSW	7	120,378,149 (GRCm39)	missense	probably benign	0.16
R4628:Vwa3a	UTSW	7	120,392,598 (GRCm39)	missense	probably benign	0.05
R4629:Vwa3a	UTSW	7	120,392,598 (GRCm39)	missense	probably benign	0.05
R4652:Vwa3a	UTSW	7	120,378,138 (GRCm39)	missense	probably damaging	0.96
R4884:Vwa3a	UTSW	7	120,390,924 (GRCm39)	missense	probably benign
R4948:Vwa3a	UTSW	7	120,375,487 (GRCm39)	missense	probably damaging	0.98
R5112:Vwa3a	UTSW	7	120,383,208 (GRCm39)	missense	probably damaging	1.00
R5385:Vwa3a	UTSW	7	120,389,365 (GRCm39)	missense	possibly damaging	0.91
R5386:Vwa3a	UTSW	7	120,389,365 (GRCm39)	missense	possibly damaging	0.91
R5579:Vwa3a	UTSW	7	120,367,396 (GRCm39)	missense	probably benign	0.29
R5587:Vwa3a	UTSW	7	120,379,458 (GRCm39)	missense	probably damaging	1.00
R5639:Vwa3a	UTSW	7	120,389,366 (GRCm39)	missense	probably damaging	0.99
R6102:Vwa3a	UTSW	7	120,375,361 (GRCm39)	splice site	probably null
R6239:Vwa3a	UTSW	7	120,393,457 (GRCm39)	missense	probably benign	0.00
R6279:Vwa3a	UTSW	7	120,381,623 (GRCm39)	missense	probably damaging	0.98
R6298:Vwa3a	UTSW	7	120,394,874 (GRCm39)	missense	probably benign	0.01
R6300:Vwa3a	UTSW	7	120,381,623 (GRCm39)	missense	probably damaging	0.98
R6336:Vwa3a	UTSW	7	120,361,646 (GRCm39)	missense	possibly damaging	0.93
R7135:Vwa3a	UTSW	7	120,372,253 (GRCm39)	missense	possibly damaging	0.69
R7215:Vwa3a	UTSW	7	120,394,853 (GRCm39)	missense	possibly damaging	0.83
R7282:Vwa3a	UTSW	7	120,385,688 (GRCm39)	missense	probably benign	0.03
R7351:Vwa3a	UTSW	7	120,375,559 (GRCm39)	missense	probably damaging	0.99
R7406:Vwa3a	UTSW	7	120,378,138 (GRCm39)	missense	probably damaging	0.96
R7557:Vwa3a	UTSW	7	120,394,841 (GRCm39)	missense	possibly damaging	0.90
R7612:Vwa3a	UTSW	7	120,351,838 (GRCm39)	missense	probably null	0.47
R7699:Vwa3a	UTSW	7	120,351,841 (GRCm39)	missense	probably damaging	1.00
R7823:Vwa3a	UTSW	7	120,372,185 (GRCm39)	missense	probably damaging	1.00
R8074:Vwa3a	UTSW	7	120,398,321 (GRCm39)	missense	probably benign	0.00
R8730:Vwa3a	UTSW	7	120,381,910 (GRCm39)	missense	probably damaging	0.97
R8768:Vwa3a	UTSW	7	120,375,299 (GRCm39)	missense	probably damaging	1.00
R8941:Vwa3a	UTSW	7	120,375,311 (GRCm39)	missense	probably benign	0.00
R9116:Vwa3a	UTSW	7	120,366,470 (GRCm39)	missense
R9134:Vwa3a	UTSW	7	120,377,659 (GRCm39)	missense	probably damaging	0.96
R9264:Vwa3a	UTSW	7	120,374,687 (GRCm39)	missense	probably benign
R9450:Vwa3a	UTSW	7	120,403,253 (GRCm39)	critical splice donor site	probably null
R9464:Vwa3a	UTSW	7	120,385,682 (GRCm39)	missense	possibly damaging	0.84
R9792:Vwa3a	UTSW	7	120,383,307 (GRCm39)	missense	probably damaging	1.00
R9793:Vwa3a	UTSW	7	120,383,307 (GRCm39)	missense	probably damaging	1.00
V7732:Vwa3a	UTSW	7	120,378,172 (GRCm39)	splice site	probably benign
X0019:Vwa3a	UTSW	7	120,367,432 (GRCm39)	missense	probably damaging	0.99
Z1177:Vwa3a	UTSW	7	120,358,356 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AATGTCTTCCAGCTGCAGCC -3'
(R):5'- AGGGAAGGAAATCTTTATTCCTCTC -3'

Sequencing Primer
(F):5'- AGCTGCAGCCCAACCTGAG -3'
(R):5'- CCTAATTGTCCTCAGGGTTCAGG -3'

Posted On

2018-11-06