Mutagenetix > Incidental Mutation

Incidental Mutation 'R1834:Vwa3a'

205052

Institutional Source

Beutler Lab

Gene Symbol

Vwa3a

Ensembl Gene

ENSMUSG00000030889

Gene Name

von Willebrand factor A domain containing 3A

Synonyms

E030013G06Rik

MMRRC Submission

039861-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1834 (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 120389359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 66 (T66A)

Ref Sequence

ENSEMBL: ENSMUSP00000146973 (fasta)

Gene Model

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

AlphaFold

Q3UVV9

Predicted Effect

probably benign
Transcript: ENSMUST00000033180
AA Change: T714A

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

SMART Domains

Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: T714A

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
AA Change: T174A

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

SMART Domains

Protein: ENSMUSP00000129672
Gene: ENSMUSG00000030889
AA Change: T174A

Domain	Start	End	E-Value	Type
Blast:VWA	1	162	1e-94	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000166083
AA Change: T32A

Predicted Effect

probably benign
Transcript: ENSMUST00000166668
AA Change: T714A

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

SMART Domains

Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: T714A

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: T714A

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

SMART Domains

Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: T714A

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
AA Change: T66A

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

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

0.0723

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

97% (116/119)

Allele List at MGI

Other mutations in this stock

Total: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,099,313 (GRCm39)	D20G	probably damaging	Het
2310061N02Rik	T	A	16: 88,504,786 (GRCm39)	S4C	unknown	Het
Abca3	A	T	17: 24,595,666 (GRCm39)	N340Y	probably benign	Het
Abcc1	A	G	16: 14,240,981 (GRCm39)	I513V	possibly damaging	Het
Acacb	C	T	5: 114,373,536 (GRCm39)	T1855M	probably damaging	Het
Ace	A	G	11: 105,876,920 (GRCm39)		probably benign	Het
Acss2	T	A	2: 155,400,550 (GRCm39)	Y530N	probably damaging	Het
Adarb1	C	A	10: 77,153,065 (GRCm39)		probably benign	Het
Afm	T	A	5: 90,674,283 (GRCm39)	M265K	probably benign	Het
Agl	A	G	3: 116,582,000 (GRCm39)	F293S	probably benign	Het
Aox1	G	A	1: 58,348,150 (GRCm39)	A623T	probably benign	Het
Arhgap31	C	A	16: 38,424,065 (GRCm39)	S667I	probably benign	Het
Bco1	A	G	8: 117,844,176 (GRCm39)	T297A	probably benign	Het
Bmp1	T	C	14: 70,746,271 (GRCm39)	S123G	possibly damaging	Het
Caps2	G	A	10: 112,031,623 (GRCm39)	D283N	possibly damaging	Het
Ccdc57	A	C	11: 120,752,045 (GRCm39)	S845R	probably benign	Het
Cd209f	A	G	8: 4,154,491 (GRCm39)	S119P	probably damaging	Het
Chrna6	A	G	8: 27,897,242 (GRCm39)	S212P	probably benign	Het
Col10a1	G	C	10: 34,271,011 (GRCm39)	A328P	probably damaging	Het
Col4a2	A	G	8: 11,452,997 (GRCm39)	E188G	probably benign	Het
Creb1	C	T	1: 64,590,109 (GRCm39)	Q32*	probably null	Het
Cttnbp2	C	T	6: 18,501,965 (GRCm39)	V16M	probably damaging	Het
D430041D05Rik	A	G	2: 103,998,446 (GRCm39)	S1102P	probably damaging	Het
Ddx31	C	T	2: 28,782,465 (GRCm39)	H603Y	probably damaging	Het
Ddx52	G	A	11: 83,850,323 (GRCm39)	C568Y	probably benign	Het
Dgki	C	A	6: 37,011,636 (GRCm39)		probably benign	Het
Dmrt1	A	T	19: 25,487,063 (GRCm39)	Q123L	probably damaging	Het
Dnah5	A	T	15: 28,409,270 (GRCm39)	M3563L	probably benign	Het
Dnah7b	A	T	1: 46,272,919 (GRCm39)	N2349I	possibly damaging	Het
Dscaml1	T	G	9: 45,594,930 (GRCm39)	S678A	probably benign	Het
Ece1	C	T	4: 137,685,312 (GRCm39)	R601W	probably damaging	Het
Ece1	A	G	4: 137,685,439 (GRCm39)	N643S	probably damaging	Het
Eno1b	A	G	18: 48,180,530 (GRCm39)	Y236C	probably damaging	Het
Esco1	T	C	18: 10,594,350 (GRCm39)	E312G	probably damaging	Het
Eya3	T	A	4: 132,434,429 (GRCm39)	V276E	probably damaging	Het
Fam161b	A	G	12: 84,395,552 (GRCm39)		probably benign	Het
Fem1c	C	T	18: 46,638,349 (GRCm39)	G551D	probably damaging	Het
Fer1l6	T	C	15: 58,429,718 (GRCm39)	I155T	possibly damaging	Het
Gbp7	A	G	3: 142,240,441 (GRCm39)	Y53C	probably damaging	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Gm10030	C	T	9: 110,833,947 (GRCm39)		noncoding transcript	Het
Gm3443	T	A	19: 21,533,043 (GRCm39)	H2Q	unknown	Het
Gm5800	T	C	14: 51,953,549 (GRCm39)	E22G	possibly damaging	Het
Gsdma2	G	T	11: 98,539,905 (GRCm39)	R9L	probably damaging	Het
Gvin3	A	T	7: 106,202,983 (GRCm39)	V87D	possibly damaging	Het
Ica1l	A	G	1: 60,067,395 (GRCm39)		probably benign	Het
Ice1	G	A	13: 70,763,457 (GRCm39)	T167I	probably damaging	Het
Ifi204	T	A	1: 173,575,172 (GRCm39)	R618S	unknown	Het
Itga2	C	A	13: 114,993,262 (GRCm39)	K784N	probably damaging	Het
Itga2	T	A	13: 114,993,263 (GRCm39)	K784M	probably damaging	Het
Kif3b	A	G	2: 153,159,405 (GRCm39)	E402G	probably benign	Het
Lrp2	T	C	2: 69,297,224 (GRCm39)	I3246V	probably benign	Het
Lrrn3	G	T	12: 41,503,517 (GRCm39)	L267I	probably damaging	Het
Map1s	A	G	8: 71,369,055 (GRCm39)	Y868C	probably damaging	Het
Mcm5	A	G	8: 75,845,901 (GRCm39)	T370A	possibly damaging	Het
Nat8f7	T	C	6: 85,684,793 (GRCm39)	S16G	probably benign	Het
Nav3	T	C	10: 109,555,883 (GRCm39)	T1683A	probably damaging	Het
Nbeal2	T	C	9: 110,456,197 (GRCm39)	N2417S	probably damaging	Het
Neb	T	C	2: 52,126,907 (GRCm39)	N3605S	probably damaging	Het
Net1	A	T	13: 3,962,941 (GRCm39)		probably benign	Het
Nsd1	A	G	13: 55,461,164 (GRCm39)	T2464A	possibly damaging	Het
Nt5e	T	A	9: 88,252,240 (GRCm39)	I534N	probably damaging	Het
Nudt12	T	A	17: 59,318,071 (GRCm39)	H58L	probably damaging	Het
Ocrl	T	A	X: 47,050,993 (GRCm39)	I74N	probably damaging	Het
Or1a1	A	G	11: 74,086,479 (GRCm39)	H50R	probably benign	Het
Or2ag13	A	G	7: 106,473,348 (GRCm39)	Y35H	probably damaging	Het
Or5ae2	A	G	7: 84,505,690 (GRCm39)	T38A	probably damaging	Het
Or9k2b	A	G	10: 130,016,701 (GRCm39)	I16T	probably benign	Het
Pef1	C	A	4: 130,014,966 (GRCm39)	C10*	probably null	Het
Phf21b	A	G	15: 84,681,547 (GRCm39)	Y256H	probably damaging	Het
Phox2a	G	T	7: 101,470,152 (GRCm39)		probably null	Het
Pi16	A	G	17: 29,546,419 (GRCm39)	E399G	possibly damaging	Het
Pipox	A	T	11: 77,772,949 (GRCm39)	Y321N	probably damaging	Het
Plin4	A	G	17: 56,410,522 (GRCm39)	S1170P	probably damaging	Het
Pnma2	C	T	14: 67,154,662 (GRCm39)	S362L	possibly damaging	Het
Ppp1r9a	T	C	6: 5,113,710 (GRCm39)	I738T	probably damaging	Het
Prkcsh	A	T	9: 21,919,634 (GRCm39)	K188M	probably damaging	Het
Rcc1l	A	T	5: 134,192,498 (GRCm39)	Y309N	probably damaging	Het
Ripk1	A	G	13: 34,199,196 (GRCm39)	T123A	probably benign	Het
Robo4	A	G	9: 37,324,355 (GRCm39)	D961G	probably benign	Het
Rps27a	A	G	11: 29,496,299 (GRCm39)	Y105H	probably benign	Het
Scaper	A	G	9: 55,724,018 (GRCm39)	Y641H	possibly damaging	Het
Scn1a	C	A	2: 66,154,960 (GRCm39)	Q666H	probably benign	Het
Scn1a	T	A	2: 66,154,961 (GRCm39)	Q666L	probably benign	Het
Sdhaf4	T	C	1: 24,042,234 (GRCm39)		probably null	Het
Sec14l3	A	G	11: 4,016,510 (GRCm39)		probably benign	Het
Selp	C	A	1: 163,955,729 (GRCm39)		probably null	Het
Sim1	A	G	10: 50,785,924 (GRCm39)	D259G	probably damaging	Het
Sptan1	T	A	2: 29,882,013 (GRCm39)		probably benign	Het
Sptbn4	T	A	7: 27,066,071 (GRCm39)	E679V	probably null	Het
Sytl3	G	A	17: 6,995,726 (GRCm39)	E169K	probably benign	Het
Taar1	T	C	10: 23,797,087 (GRCm39)	C262R	probably benign	Het
Taf7l2	T	C	10: 115,948,570 (GRCm39)	R319G	probably benign	Het
Tbc1d32	A	G	10: 55,893,700 (GRCm39)	I1291T	probably benign	Het
Tet1	G	A	10: 62,649,444 (GRCm39)	P89S	probably damaging	Het
Tgfbrap1	C	A	1: 43,110,795 (GRCm39)	G7W	probably damaging	Het
Thada	A	G	17: 84,533,432 (GRCm39)	V1673A	possibly damaging	Het
Thbs4	A	G	13: 92,897,989 (GRCm39)	V610A	probably benign	Het
Tmem163	A	G	1: 127,605,246 (GRCm39)	S41P	probably benign	Het
Tmem65	A	T	15: 58,658,962 (GRCm39)	H200Q	probably damaging	Het
Trgc3	A	G	13: 19,447,535 (GRCm39)	T163A	possibly damaging	Het
Trim62	T	C	4: 128,803,018 (GRCm39)	V356A	possibly damaging	Het
Ttn	T	C	2: 76,562,502 (GRCm39)	D28781G	probably damaging	Het
Ttn	C	T	2: 76,593,604 (GRCm39)	V20679I	probably benign	Het
Tut7	A	T	13: 59,962,749 (GRCm39)	Y339*	probably null	Het
Unc80	A	T	1: 66,678,407 (GRCm39)	T2063S	possibly damaging	Het
Vav3	A	G	3: 109,413,742 (GRCm39)	T227A	probably benign	Het
Vmn2r118	A	T	17: 55,899,456 (GRCm39)	I816N	probably damaging	Het
Vmn2r26	T	A	6: 124,038,369 (GRCm39)	M648K	possibly damaging	Het
Vmn2r88	T	G	14: 51,650,487 (GRCm39)		probably benign	Het
Xirp2	T	A	2: 67,341,484 (GRCm39)	Y1242N	probably damaging	Het
Ywhag	G	A	5: 135,940,384 (GRCm39)	T70M	probably damaging	Het
Zfp248	T	C	6: 118,405,931 (GRCm39)	T452A	probably damaging	Het
Zfp988	A	T	4: 147,417,344 (GRCm39)	I593F	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
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
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'- GCGTCAAAAGGCTTCTTTCTG -3'
(R):5'- GAGGCAGGTGCTCTTTTCAG -3'

Sequencing Primer
(F):5'- GTCCTGGTGCACATGAGTATCTATC -3'
(R):5'- TTTCAGTGGCTCCCATGGGAC -3'

Posted On

2014-06-23