Mutagenetix > Incidental Mutation

Incidental Mutation 'R1306:Vwa3a'

157803

Institutional Source

Beutler Lab

Gene Symbol

Vwa3a

Ensembl Gene

ENSMUSG00000030889

Gene Name

von Willebrand factor A domain containing 3A

Synonyms

E030013G06Rik

MMRRC Submission

039372-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1306 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120338541-120404965 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 120399613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 1031 (S1031R)

Ref Sequence

ENSEMBL: ENSMUSP00000133029 (fasta)

Gene Model

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

AlphaFold

Q3UVV9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033180
AA Change: S1031R

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: S1031R

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

possibly damaging
Transcript: ENSMUST00000166668
AA Change: S1031R

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: S1031R

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: ENSMUST00000167213
AA Change: S1031R

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: S1031R

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

Coding Region Coverage

1x: 98.8%
3x: 97.9%
10x: 95.1%
20x: 89.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	T	A	7: 80,743,621 (GRCm39)	L1146H	probably damaging	Het
Atad2b	A	G	12: 5,024,239 (GRCm39)	I121M	probably benign	Het
Atg2a	A	T	19: 6,303,051 (GRCm39)	T1053S	probably benign	Het
Bend5	C	T	4: 111,316,970 (GRCm39)	Q127*	probably null	Het
Ccser1	G	A	6: 62,357,090 (GRCm39)	D843N	probably damaging	Het
Dennd4b	A	G	3: 90,178,472 (GRCm39)	T512A	probably benign	Het
Dnmbp	A	T	19: 43,890,218 (GRCm39)	D516E	probably benign	Het
Dok3	C	A	13: 55,675,261 (GRCm39)	E86*	probably null	Het
Fat3	A	G	9: 16,287,975 (GRCm39)	I516T	probably damaging	Het
Gabbr1	T	A	17: 37,366,882 (GRCm39)		probably null	Het
Gjd2	T	C	2: 113,842,346 (GRCm39)	T44A	probably damaging	Het
Mcm7	C	A	5: 138,165,465 (GRCm39)	A480S	probably damaging	Het
Meox2	GCACCACCACCACCACCACCA	GCACCACCACCACCACCA	12: 37,159,030 (GRCm39)		probably benign	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Pdzph1	T	C	17: 59,239,427 (GRCm39)	H967R	possibly damaging	Het
Pik3c2g	A	G	6: 139,718,154 (GRCm39)	N227S	probably benign	Het
Pkd1	T	C	17: 24,792,146 (GRCm39)	S1278P	probably damaging	Het
Plch2	T	C	4: 155,091,597 (GRCm39)	E71G	probably damaging	Het
Pnma8a	A	G	7: 16,695,950 (GRCm39)	R428G	probably benign	Het
Sertad2	T	C	11: 20,598,388 (GRCm39)	S195P	probably benign	Het
Slc19a3	A	G	1: 83,000,483 (GRCm39)	L178S	probably damaging	Het
Smarca2	A	G	19: 26,748,388 (GRCm39)	D139G	possibly damaging	Het
Tm4sf19	G	A	16: 32,226,720 (GRCm39)	V170M	probably 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
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
R6907:Vwa3a	UTSW	7	120,391,804 (GRCm39)	unclassified	probably benign
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'- TAGGGACAAGGTCTCCTCTGTTGG -3'
(R):5'- AGGAACAGCTTGTTGCTTAGTCAGTC -3'

Sequencing Primer
(F):5'- GTTGGGCCATCATTTCTGC -3'
(R):5'- TCAAGACAATACATCTCCTGATTCC -3'

Posted On

2014-02-18