Mutagenetix > Incidental Mutation

Incidental Mutation 'R2408:Vwa3a'

248097

Institutional Source

Beutler Lab

Gene Symbol

Vwa3a

Ensembl Gene

ENSMUSG00000030889

Gene Name

von Willebrand factor A domain containing 3A

Synonyms

E030013G06Rik

MMRRC Submission

040374-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2408 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

120338541-120404965 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120372517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 302 (S302P)

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: S302P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: S302P

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: S302P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: S302P

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: S302P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: S302P

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: S302P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000132372
Gene: ENSMUSG00000030889
AA Change: S302P

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: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.8%

Validation Efficiency

97% (33/34)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg1	T	G	8: 95,730,121 (GRCm39)	L103V	probably null	Het
BC051076	C	T	5: 88,111,684 (GRCm39)		noncoding transcript	Het
Ccdc191	A	T	16: 43,751,561 (GRCm39)	Q239L	probably benign	Het
Dennd4b	G	T	3: 90,178,882 (GRCm39)	G538*	probably null	Het
Dipk1a	T	C	5: 108,062,291 (GRCm39)	D78G	possibly damaging	Het
Dusp7	C	T	9: 106,246,361 (GRCm39)	A122V	probably benign	Het
Exd2	T	G	12: 80,531,015 (GRCm39)		probably benign	Het
Gm10782	C	A	13: 56,510,944 (GRCm39)		noncoding transcript	Het
Gm5117	T	C	8: 32,227,306 (GRCm39)		noncoding transcript	Het
Hhipl1	T	A	12: 108,284,806 (GRCm39)	D386E	probably benign	Het
Hnf1a	C	T	5: 115,098,070 (GRCm39)		probably null	Het
Ifi204	A	G	1: 173,583,198 (GRCm39)	F340S	possibly damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Med26	T	C	8: 73,249,476 (GRCm39)	D541G	probably benign	Het
Mgam	T	A	6: 40,663,456 (GRCm39)	L1218Q	probably damaging	Het
Msh5	T	C	17: 35,264,095 (GRCm39)	D136G	probably damaging	Het
Nbl1	C	T	4: 138,810,843 (GRCm39)	C117Y	probably damaging	Het
Niban2	A	G	2: 32,813,482 (GRCm39)	Y565C	probably damaging	Het
Noct	T	C	3: 51,132,710 (GRCm39)		probably null	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Prmt2	A	T	10: 76,044,301 (GRCm39)	M417K	probably damaging	Het
Rptor	A	G	11: 119,748,277 (GRCm39)	E3G	probably damaging	Het
Sgms1	G	A	19: 32,137,072 (GRCm39)	R165*	probably null	Het
Slc13a5	A	G	11: 72,152,902 (GRCm39)	S60P	probably damaging	Het
Sycp1	T	C	3: 102,832,575 (GRCm39)	Y197C	probably damaging	Het
Tmem222	T	C	4: 132,998,335 (GRCm39)	H73R	possibly damaging	Het
Trmt1l	G	A	1: 151,315,267 (GRCm39)	G151D	possibly damaging	Het
Ttc16	A	G	2: 32,658,020 (GRCm39)	F409L	probably benign	Het
Ubap2l	T	C	3: 89,916,439 (GRCm39)	Q925R	probably null	Het
Ucn3	T	G	13: 3,991,413 (GRCm39)	I80L	probably benign	Het
Zfp804b	A	T	5: 7,229,410 (GRCm39)		probably benign	Het
Zmynd19	A	G	2: 24,848,937 (GRCm39)	E144G	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
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'- TGAGTGTCTGAATCCCTCCC -3'
(R):5'- CTCTGCACACTTTCAGGGATC -3'

Sequencing Primer
(F):5'- TGTGGACTAGAACACACCTCTCG -3'
(R):5'- CTGCACACTTTCAGGGATCATATG -3'

Posted On

2014-11-11