Mutagenetix > Incidental Mutation

Incidental Mutation 'R3904:Vwa3a'

309101

Institutional Source

Beutler Lab

Gene Symbol

Vwa3a

Ensembl Gene

ENSMUSG00000030889

Gene Name

von Willebrand factor A domain containing 3A

Synonyms

E030013G06Rik

MMRRC Submission

040812-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3904 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120338541-120404965 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120358099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 57 (T57A)

Ref Sequence

ENSEMBL: ENSMUSP00000132372 (fasta)

Gene Model

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

AlphaFold

Q3UVV9

Predicted Effect

probably benign
Transcript: ENSMUST00000033180
AA Change: T57A

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

SMART Domains

Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: T57A

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: T57A

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

SMART Domains

Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: T57A

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: T57A

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

SMART Domains

Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: T57A

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: T57A

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

SMART Domains

Protein: ENSMUSP00000132372
Gene: ENSMUSG00000030889
AA Change: T57A

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	C	3: 137,772,400 (GRCm39)	I530L	probably benign	Het
5930422O12Rik	T	C	8: 33,919,467 (GRCm39)	S96P	probably damaging	Het
Acot4	A	G	12: 84,090,101 (GRCm39)		probably null	Het
Alms1	A	G	6: 85,598,660 (GRCm39)	D1631G	probably benign	Het
Amd1	C	T	10: 40,166,453 (GRCm39)	R210H	probably benign	Het
Amt	C	T	9: 108,174,420 (GRCm39)	R62C	possibly damaging	Het
Anapc1	A	G	2: 128,484,439 (GRCm39)	F1175S	probably damaging	Het
Ano4	A	G	10: 88,860,867 (GRCm39)	F337S	probably damaging	Het
Bub1	A	C	2: 127,663,862 (GRCm39)	I207S	probably benign	Het
Cfap53	T	A	18: 74,440,445 (GRCm39)	L405M	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col6a1	C	T	10: 76,547,175 (GRCm39)	R730H	unknown	Het
Esp3	A	T	17: 40,946,820 (GRCm39)	T48S	possibly damaging	Het
Fmo1	G	T	1: 162,661,337 (GRCm39)	N315K	possibly damaging	Het
Fsip2l	T	C	X: 47,930,421 (GRCm39)	N649S	possibly damaging	Het
Impg1	A	G	9: 80,252,867 (GRCm39)	S438P	possibly damaging	Het
Jsrp1	T	A	10: 80,648,246 (GRCm39)	M1L	probably benign	Het
Klra14-ps	T	A	6: 130,129,512 (GRCm39)		noncoding transcript	Het
Mrm3	A	G	11: 76,135,112 (GRCm39)	M108V	probably benign	Het
Mtf2	T	A	5: 108,228,866 (GRCm39)	F61I	probably damaging	Het
Nat10	A	T	2: 103,556,592 (GRCm39)		probably benign	Het
Or2y10	T	C	11: 49,455,585 (GRCm39)	I279T	possibly damaging	Het
Or7c70	T	G	10: 78,683,132 (GRCm39)	I206L	probably benign	Het
Pcgf5	T	C	19: 36,417,495 (GRCm39)	I140T	probably damaging	Het
Pfpl	T	C	19: 12,407,801 (GRCm39)	L684P	probably benign	Het
Psmd10	T	C	X: 139,850,052 (GRCm39)	*152W	probably null	Het
Ptpn23	A	C	9: 110,218,313 (GRCm39)	M600R	probably benign	Het
Pxmp4	C	T	2: 154,429,969 (GRCm39)	R140H	probably damaging	Het
Rnf112	T	C	11: 61,341,211 (GRCm39)	E410G	probably damaging	Het
Samd9l	T	A	6: 3,376,830 (GRCm39)	K144*	probably null	Het
Shld2	A	G	14: 33,981,666 (GRCm39)	W491R	probably damaging	Het
Slc46a3	C	T	5: 147,823,264 (GRCm39)	E193K	probably benign	Het
Snap23	A	C	2: 120,429,815 (GRCm39)	D209A	possibly damaging	Het
Tg	C	T	15: 66,638,011 (GRCm39)	Q656*	probably null	Het
Tshz2	A	G	2: 169,726,307 (GRCm39)	Y301C	probably damaging	Het
Ttn	T	A	2: 76,670,638 (GRCm39)		probably benign	Het
Unc80	C	T	1: 66,678,455 (GRCm39)	Q2011*	probably null	Het
Zfp518a	C	T	19: 40,903,364 (GRCm39)	Q1098*	probably null	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
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'- TCAGCAAGGGGATTCGATTTG -3'
(R):5'- AAATGCACTTTGGGCACAGC -3'

Sequencing Primer
(F):5'- ACTTGCTCTGTAGAACAGGC -3'
(R):5'- TGGGCACAGCATTGTTACAATCC -3'

Posted On

2015-04-17