Mutagenetix > Incidental Mutation

Incidental Mutation 'R1710:Vwa3a'

190437

Institutional Source

Beutler Lab

Gene Symbol

Vwa3a

Ensembl Gene

ENSMUSG00000030889

Gene Name

von Willebrand factor A domain containing 3A

Synonyms

E030013G06Rik

MMRRC Submission

039743-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1710 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

120338541-120404965 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to T at 120403254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133029 (fasta)

Gene Model

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

AlphaFold

Q3UVV9

Predicted Effect

probably null
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 null
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 null
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

98% (117/120)

Allele List at MGI

Other mutations in this stock

Total: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	A	T	18: 70,601,134 (GRCm39)	S249R	possibly damaging	Het
Acadvl	T	A	11: 69,901,181 (GRCm39)	I638F	probably damaging	Het
Acnat2	T	A	4: 49,380,587 (GRCm39)	T264S	probably benign	Het
Acrv1	C	T	9: 36,605,551 (GRCm39)	Q33*	probably null	Het
Actrt3	T	A	3: 30,653,901 (GRCm39)	N33I	probably damaging	Het
Alyref2	T	C	1: 171,331,168 (GRCm39)		probably benign	Het
Ank2	C	A	3: 126,726,709 (GRCm39)	E3712*	probably null	Het
Ano7	C	A	1: 93,313,346 (GRCm39)	H161Q	probably benign	Het
Arhgap10	C	A	8: 78,085,216 (GRCm39)	E451*	probably null	Het
Arhgap29	T	A	3: 121,801,729 (GRCm39)	Y748N	probably damaging	Het
Arhgap45	C	T	10: 79,853,932 (GRCm39)	Q149*	probably null	Het
Asap2	C	T	12: 21,274,393 (GRCm39)	H371Y	probably damaging	Het
Atp6v1b1	T	C	6: 83,735,372 (GRCm39)	I480T	probably benign	Het
BC034090	T	C	1: 155,101,610 (GRCm39)	D218G	possibly damaging	Het
Brdt	A	T	5: 107,491,450 (GRCm39)	D74V	probably damaging	Het
C4b	A	G	17: 34,962,638 (GRCm39)		probably benign	Het
Card11	T	A	5: 140,888,660 (GRCm39)	K233*	probably null	Het
Catip	T	G	1: 74,401,929 (GRCm39)	F35V	possibly damaging	Het
Ccdc13	C	T	9: 121,648,647 (GRCm39)	G247R	probably damaging	Het
Cep97	T	A	16: 55,735,385 (GRCm39)	D471V	probably damaging	Het
Col17a1	A	T	19: 47,659,370 (GRCm39)	L403Q	probably damaging	Het
Crbn	A	G	6: 106,767,906 (GRCm39)	S194P	possibly damaging	Het
Degs1l	A	G	1: 180,878,884 (GRCm39)	M1V	probably null	Het
Dennd10	A	G	19: 60,806,021 (GRCm39)	Y102C	probably damaging	Het
Dhx58	T	A	11: 100,594,400 (GRCm39)	H97L	probably benign	Het
Dnah8	T	C	17: 31,073,914 (GRCm39)	I4528T	probably damaging	Het
Dpyd	A	G	3: 118,404,092 (GRCm39)		probably null	Het
Entpd1	A	T	19: 40,714,680 (GRCm39)	Q263L	probably benign	Het
Entrep1	A	T	19: 23,957,059 (GRCm39)	I317N	probably damaging	Het
Esyt3	T	C	9: 99,218,244 (GRCm39)	I130M	probably benign	Het
Etv1	T	C	12: 38,902,261 (GRCm39)	F264S	probably benign	Het
Fat1	T	C	8: 45,463,519 (GRCm39)	S1354P	probably benign	Het
Fat4	C	A	3: 39,005,304 (GRCm39)	T1901N	probably damaging	Het
Fbxw13	C	T	9: 109,010,586 (GRCm39)	V351I	probably damaging	Het
Fmo3	A	G	1: 162,795,356 (GRCm39)	F160L	possibly damaging	Het
Fyb2	T	A	4: 104,861,113 (GRCm39)	D592E	probably damaging	Het
Gjb4	T	C	4: 127,245,663 (GRCm39)	M93V	possibly damaging	Het
Gm5089	C	A	14: 122,673,566 (GRCm39)	G52*	probably null	Het
Gm6401	G	T	14: 41,788,840 (GRCm39)	N76K	probably benign	Het
Gm6871	A	G	7: 41,195,901 (GRCm39)	S279P	probably damaging	Het
Gtf2ird2	T	G	5: 134,240,081 (GRCm39)	V301G	probably benign	Het
H2bw2	A	C	X: 135,828,216 (GRCm39)	D35A	unknown	Het
Hfm1	A	G	5: 107,028,380 (GRCm39)	F817L	probably damaging	Het
Hfm1	T	C	5: 107,043,869 (GRCm39)	E589G	probably damaging	Het
Hivep2	A	T	10: 14,005,249 (GRCm39)	K616*	probably null	Het
Hmcn1	A	T	1: 150,551,735 (GRCm39)	I2623N	probably damaging	Het
Igf2bp3	G	T	6: 49,082,565 (GRCm39)	A339E	probably damaging	Het
Insyn2b	T	A	11: 34,354,263 (GRCm39)		probably null	Het
Irx4	T	C	13: 73,415,757 (GRCm39)	I182T	possibly damaging	Het
Jcad	T	C	18: 4,674,511 (GRCm39)	S758P	probably damaging	Het
Klhdc4	A	T	8: 122,526,226 (GRCm39)	Y304*	probably null	Het
Lama1	A	G	17: 68,060,786 (GRCm39)	I705V	probably benign	Het
Mbd5	A	G	2: 49,147,044 (GRCm39)	N418S	probably benign	Het
Mmp21	C	T	7: 133,279,014 (GRCm39)	V279I	probably damaging	Het
Morc4	A	C	X: 138,755,279 (GRCm39)	C272W	probably damaging	Het
Mrm1	A	T	11: 84,709,518 (GRCm39)	C180S	probably damaging	Het
Ncor1	T	C	11: 62,313,831 (GRCm39)	D103G	probably damaging	Het
Ndrg4	A	G	8: 96,437,314 (GRCm39)	D251G	probably damaging	Het
Ndufaf5	T	C	2: 140,035,522 (GRCm39)	V246A	possibly damaging	Het
Noa1	T	C	5: 77,457,572 (GRCm39)	E111G	possibly damaging	Het
Nod1	C	A	6: 54,921,044 (GRCm39)	V425F	probably damaging	Het
Nos1	A	T	5: 118,033,984 (GRCm39)	I369F	probably damaging	Het
Nsun5	C	T	5: 135,400,170 (GRCm39)	H98Y	probably damaging	Het
Optn	G	A	2: 5,057,941 (GRCm39)	T76I	possibly damaging	Het
Or14c39	G	A	7: 86,344,318 (GRCm39)	R218H	probably benign	Het
Or4k15c	C	G	14: 50,321,827 (GRCm39)	V104L	probably benign	Het
Or5k1b	A	G	16: 58,581,504 (GRCm39)	F12L	probably benign	Het
Or8d1b	A	G	9: 38,887,202 (GRCm39)	I77V	probably damaging	Het
Or8g28	T	C	9: 39,169,867 (GRCm39)	I37V	probably benign	Het
Or9g19	C	T	2: 85,600,199 (GRCm39)	T18I	probably benign	Het
Oscar	C	T	7: 3,614,855 (GRCm39)	W22*	probably null	Het
Palmd	T	A	3: 116,717,306 (GRCm39)	Y397F	probably damaging	Het
Plk1	A	G	7: 121,768,121 (GRCm39)	D447G	probably damaging	Het
Plscr5	T	A	9: 92,087,581 (GRCm39)	N183K	probably damaging	Het
Polk	T	G	13: 96,625,712 (GRCm39)	D364A	probably damaging	Het
Polr3d	T	C	14: 70,680,450 (GRCm39)	T36A	probably benign	Het
Ppp1r10	A	T	17: 36,237,428 (GRCm39)	R199S	probably damaging	Het
Prkcz	C	T	4: 155,346,969 (GRCm39)	D388N	probably damaging	Het
Prrc2b	T	C	2: 32,102,234 (GRCm39)	L769P	probably damaging	Het
Psg26	A	G	7: 18,213,966 (GRCm39)	V232A	probably damaging	Het
Pth2r	T	C	1: 65,375,997 (GRCm39)	V85A	possibly damaging	Het
Rbpms2	T	C	9: 65,566,494 (GRCm39)		probably benign	Het
Reps1	A	T	10: 17,994,698 (GRCm39)	D514V	possibly damaging	Het
Riok3	G	T	18: 12,276,018 (GRCm39)	R238L	probably benign	Het
Rnf19a	T	C	15: 36,244,353 (GRCm39)	Q569R	probably damaging	Het
Rorb	G	A	19: 18,937,865 (GRCm39)	T267I	probably damaging	Het
Rrm2b	A	T	15: 37,929,340 (GRCm39)	M70K	probably damaging	Het
Rsf1	A	T	7: 97,311,556 (GRCm39)	E762V	possibly damaging	Het
S100a2	G	A	3: 90,498,699 (GRCm39)	V67I	probably benign	Het
Skp1	T	A	11: 52,133,442 (GRCm39)	D42E	probably benign	Het
Slc22a4	A	T	11: 53,918,801 (GRCm39)	M1K	probably null	Het
Slc2a9	T	A	5: 38,539,387 (GRCm39)	Q371L	probably damaging	Het
Slc4a9	A	G	18: 36,665,075 (GRCm39)	T475A	probably benign	Het
Slc8b1	A	G	5: 120,657,717 (GRCm39)	N60S	probably damaging	Het
Slx4	A	C	16: 3,817,022 (GRCm39)	D66E	probably benign	Het
Smg8	A	T	11: 86,977,113 (GRCm39)	I156N	probably damaging	Het
Snx25	A	T	8: 46,569,244 (GRCm39)	C218S	possibly damaging	Het
Sulf2	T	C	2: 165,920,992 (GRCm39)	I784V	probably benign	Het
Tatdn2	G	T	6: 113,674,888 (GRCm39)	R72L	possibly damaging	Het
Tbc1d8	T	C	1: 39,445,918 (GRCm39)	D91G	possibly damaging	Het
Tifab	C	A	13: 56,324,433 (GRCm39)	R3S	probably benign	Het
Tm4sf1	A	T	3: 57,200,304 (GRCm39)	S104T	probably damaging	Het
Tmem132e	T	A	11: 82,334,343 (GRCm39)	I618N	probably damaging	Het
Ttc7b	A	T	12: 100,369,667 (GRCm39)	D367E	probably damaging	Het
Txlnb	A	G	10: 17,719,203 (GRCm39)	D678G	possibly damaging	Het
Vgll4	A	G	6: 114,934,895 (GRCm39)		probably null	Het
Vmn2r124	A	T	17: 18,282,187 (GRCm39)		probably benign	Het
Vmn2r2	T	C	3: 64,024,820 (GRCm39)	D587G	probably benign	Het
Vmn2r84	G	A	10: 130,226,968 (GRCm39)	A290V	probably benign	Het
Vps13c	T	A	9: 67,818,811 (GRCm39)	S1077R	probably benign	Het
Vsig10	C	T	5: 117,489,719 (GRCm39)	A495V	probably benign	Het
Zfhx2	C	A	14: 55,303,455 (GRCm39)	A1510S	possibly damaging	Het
Zfp142	T	A	1: 74,611,389 (GRCm39)	D601V	probably damaging	Het
Zfp62	T	C	11: 49,108,510 (GRCm39)	I867T	probably benign	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
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'- TGGATACATGGAGATGCACAAGCTG -3'
(R):5'- TTCAGGAGCTGGGATCTAGAAGGC -3'

Sequencing Primer
(F):5'- GGCGACATCGAATTTTCTCTAATCAC -3'
(R):5'- ttcacctgcctttgtctcc -3'

Posted On

2014-05-14