Mutagenetix > Incidental Mutation

Incidental Mutation 'R5579:Vwa3a'

438276

Institutional Source

Beutler Lab

Gene Symbol

Vwa3a

Ensembl Gene

ENSMUSG00000030889

Gene Name

von Willebrand factor A domain containing 3A

Synonyms

E030013G06Rik

MMRRC Submission

043267-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5579 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120739318-120805742 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 120768173 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 184 (S184A)

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: S184A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: S184A

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: S184A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: S184A

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: S184A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: S184A

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: S184A

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000132372
Gene: ENSMUSG00000030889
AA Change: S184A

Domain	Start	End	E-Value	Type
Pfam:VWA_3	142	297	8.3e-29	PFAM
Pfam:VWA_3	483	609	5.3e-17	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 97.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	T	17: 24,376,729 (GRCm38)	C352F	probably damaging	Het
Abce1	A	T	8: 79,700,586 (GRCm38)	I237N	possibly damaging	Het
Acrbp	A	G	6: 125,061,099 (GRCm38)	D421G	probably benign	Het
Adam8	T	A	7: 139,988,984 (GRCm38)	Y201F	probably benign	Het
Adgrf1	T	A	17: 43,311,064 (GRCm38)	C731S	probably damaging	Het
Akap8l	A	T	17: 32,321,942 (GRCm38)	I529N	probably damaging	Het
Akap9	G	A	5: 4,064,714 (GRCm38)	G114D	possibly damaging	Het
Alox12b	T	A	11: 69,162,932 (GRCm38)	D158E	probably benign	Het
Ankrd11	A	G	8: 122,884,231 (GRCm38)	S2639P	probably damaging	Het
Ankrd42	T	C	7: 92,590,182 (GRCm38)	Y466C	possibly damaging	Het
Apobr	T	C	7: 126,587,675 (GRCm38)	I786T	probably benign	Het
Arhgef12	C	T	9: 43,010,193 (GRCm38)	G329R	probably benign	Het
Btnl1	T	C	17: 34,381,552 (GRCm38)		probably null	Het
Ccdc174	A	G	6: 91,881,350 (GRCm38)		probably null	Het
Ccdc183	T	C	2: 25,615,422 (GRCm38)	D177G	possibly damaging	Het
Cd14	A	G	18: 36,726,235 (GRCm38)	Y56H	probably benign	Het
Cep162	G	A	9: 87,203,671 (GRCm38)	A1200V	probably benign	Het
Clic3	T	C	2: 25,458,307 (GRCm38)	L128P	probably damaging	Het
Cntnap5b	A	T	1: 100,383,395 (GRCm38)	R538*	probably null	Het
Cntnap5b	A	T	1: 100,383,399 (GRCm38)	Q539L	probably benign	Het
Coq7	A	T	7: 118,517,335 (GRCm38)	N214K	unknown	Het
Cramp1	G	A	17: 24,973,113 (GRCm38)	H1018Y	possibly damaging	Het
Crtac1	T	A	19: 42,304,806 (GRCm38)	D288V	probably damaging	Het
Dab2ip	C	T	2: 35,715,327 (GRCm38)	R132*	probably null	Het
Dis3l	C	A	9: 64,330,835 (GRCm38)	C125F	probably benign	Het
Dnmt1	A	T	9: 20,920,205 (GRCm38)	V543D	probably damaging	Het
Dock9	A	T	14: 121,599,695 (GRCm38)	L67Q	probably damaging	Het
Ehbp1	A	T	11: 22,137,846 (GRCm38)	S413T	probably damaging	Het
Endov	A	G	11: 119,505,097 (GRCm38)	I158V	probably benign	Het
Epb41l4b	A	G	4: 57,064,802 (GRCm38)	V469A	possibly damaging	Het
Etf1	G	A	18: 34,913,601 (GRCm38)	P119S	probably damaging	Het
Fam135a	A	G	1: 24,029,727 (GRCm38)	L491P	possibly damaging	Het
Fancd2	A	T	6: 113,560,051 (GRCm38)		probably null	Het
Fank1	T	A	7: 133,869,329 (GRCm38)		probably null	Het
Fbh1	A	G	2: 11,748,993 (GRCm38)	I846T	probably damaging	Het
Gas2l3	T	C	10: 89,414,066 (GRCm38)	T397A	probably benign	Het
Gga1	T	C	15: 78,893,188 (GRCm38)	V513A	probably damaging	Het
Ggt1	T	C	10: 75,585,948 (GRCm38)	V543A	probably damaging	Het
Gm11596	A	T	11: 99,792,891 (GRCm38)	C134*	probably null	Het
Gnal	C	T	18: 67,088,771 (GRCm38)	R82C	unknown	Het
Hat1	T	C	2: 71,410,238 (GRCm38)	V92A	possibly damaging	Het
Icosl	C	T	10: 78,073,763 (GRCm38)	R181C	probably damaging	Het
Ift46	A	G	9: 44,786,863 (GRCm38)	M208V	possibly damaging	Het
Ighv1-26	T	C	12: 114,788,599 (GRCm38)	K42E	possibly damaging	Het
Ipo5	A	G	14: 120,938,613 (GRCm38)	K617E	probably benign	Het
Irx5	A	G	8: 92,359,913 (GRCm38)	D208G	probably benign	Het
Itgal	T	G	7: 127,306,929 (GRCm38)	V397G	probably benign	Het
Itpr2	G	A	6: 146,173,366 (GRCm38)	R2297*	probably null	Het
Itpr3	A	G	17: 27,113,519 (GRCm38)	D1779G	probably damaging	Het
Khdc4	T	C	3: 88,700,275 (GRCm38)	S345P	probably benign	Het
Krt4	T	A	15: 101,921,234 (GRCm38)	E286D	probably benign	Het
Loxl4	C	T	19: 42,604,290 (GRCm38)	G317E	probably damaging	Het
Mapk6	T	G	9: 75,388,062 (GRCm38)	H718P	possibly damaging	Het
Mark2	A	C	19: 7,282,816 (GRCm38)	V14G	probably damaging	Het
Mbd5	A	G	2: 49,272,814 (GRCm38)	T1103A	possibly damaging	Het
Mcph1	A	G	8: 18,632,293 (GRCm38)	E482G	probably benign	Het
Mme	G	A	3: 63,348,645 (GRCm38)	E509K	probably damaging	Het
Mrgbp	A	G	2: 180,585,483 (GRCm38)	T204A	probably damaging	Het
Mycbp2	A	T	14: 103,291,333 (GRCm38)	F430I	probably damaging	Het
Myo6	A	G	9: 80,217,720 (GRCm38)	D27G	probably damaging	Het
Ncoa6	A	G	2: 155,406,677 (GRCm38)	L1569S	probably damaging	Het
Ndc1	T	A	4: 107,380,704 (GRCm38)	F235Y	possibly damaging	Het
Nmur2	A	T	11: 56,033,009 (GRCm38)	S240T	probably benign	Het
Or14c44	T	A	7: 86,412,726 (GRCm38)	Y121*	probably null	Het
Or52ae7	G	A	7: 103,470,914 (GRCm38)	V292M	probably damaging	Het
Or5d46	A	T	2: 88,340,413 (GRCm38)	I283F	possibly damaging	Het
Osbpl1a	A	C	18: 12,892,262 (GRCm38)	S333A	probably benign	Het
Osbpl1a	G	T	18: 12,841,192 (GRCm38)	A62E	probably damaging	Het
Otud4	C	T	8: 79,664,108 (GRCm38)	T417I	probably benign	Het
Pagr1a	T	C	7: 127,015,442 (GRCm38)	E197G	probably damaging	Het
Pcdh18	T	C	3: 49,744,977 (GRCm38)	Q1012R	probably damaging	Het
Pcdhgb5	A	C	18: 37,731,637 (GRCm38)	I162L	probably benign	Het
Pdpr	T	A	8: 111,123,816 (GRCm38)	Y462N	probably damaging	Het
Pkhd1	A	T	1: 20,523,142 (GRCm38)	H1582Q	probably damaging	Het
Polr1b	A	G	2: 129,110,108 (GRCm38)	K352R	probably damaging	Het
Poteg	G	A	8: 27,448,037 (GRCm38)	V12M	probably damaging	Het
Pou2f1	A	C	1: 165,915,162 (GRCm38)	V54G	probably damaging	Het
Ppme1	A	G	7: 100,344,975 (GRCm38)	L177P	probably damaging	Het
Prkce	A	G	17: 86,619,948 (GRCm38)	D550G	probably damaging	Het
Prrc2c	A	G	1: 162,680,758 (GRCm38)		probably null	Het
Ptpn22	A	G	3: 103,882,139 (GRCm38)		probably null	Het
Rabif	G	A	1: 134,506,205 (GRCm38)	V86M	probably damaging	Het
Rbm25	T	A	12: 83,668,507 (GRCm38)	M484K	probably benign	Het
Rcn2	G	A	9: 56,057,429 (GRCm38)	A224T	probably benign	Het
Rexo5	T	A	7: 119,834,403 (GRCm38)		probably null	Het
Rnase1	A	T	14: 51,145,762 (GRCm38)	I45N	probably benign	Het
Rnmt	T	A	18: 68,306,115 (GRCm38)	D98E	possibly damaging	Het
Rprd2	A	G	3: 95,785,059 (GRCm38)	F188L	probably damaging	Het
Scube2	G	A	7: 109,810,737 (GRCm38)	T643M	probably damaging	Het
Skic3	T	C	13: 76,185,200 (GRCm38)	W25R	probably damaging	Het
Slc7a15	T	C	12: 8,539,344 (GRCm38)	I68V	probably benign	Het
Slco1a5	A	T	6: 142,242,125 (GRCm38)	V496D	possibly damaging	Het
Slitrk6	T	G	14: 110,751,217 (GRCm38)	S353R	possibly damaging	Het
Smpd5	T	A	15: 76,295,125 (GRCm38)	I53K	possibly damaging	Het
Tas2r108	T	C	6: 40,494,087 (GRCm38)	S166P	probably benign	Het
Tcstv7a	T	A	13: 119,828,415 (GRCm38)	M82L	probably benign	Het
Tecpr1	C	A	5: 144,214,344 (GRCm38)	V245L	possibly damaging	Het
Tenm3	G	T	8: 48,236,764 (GRCm38)	N1929K	probably damaging	Het
Tigd5	T	G	15: 75,911,025 (GRCm38)	F412C	probably damaging	Het
Timm17a	A	T	1: 135,306,188 (GRCm38)	S74T	possibly damaging	Het
Tle1	A	T	4: 72,139,808 (GRCm38)	L60Q	probably damaging	Het
Tmem132d	T	C	5: 127,796,000 (GRCm38)	E515G	possibly damaging	Het
Tmem65	T	C	15: 58,794,397 (GRCm38)	N115S	probably benign	Het
Trmt5	C	A	12: 73,281,652 (GRCm38)	R259L	possibly damaging	Het
Trmt9b	T	C	8: 36,512,041 (GRCm38)	V266A	probably benign	Het
Vmn2r50	A	T	7: 10,050,089 (GRCm38)	W153R	probably benign	Het
Zbtb25	A	G	12: 76,349,164 (GRCm38)	L428P	possibly damaging	Het
Zbtb49	C	T	5: 38,200,816 (GRCm38)	D698N	probably damaging	Het
Zbtb8os	T	G	4: 129,340,735 (GRCm38)	D35E	probably damaging	Het
Zfp316	T	C	5: 143,264,491 (GRCm38)	T56A	unknown	Het
Zfp334	A	T	2: 165,380,487 (GRCm38)	C545*	probably null	Het
Zmiz1	C	A	14: 25,644,856 (GRCm38)	S247R	probably damaging	Het
Zscan18	A	G	7: 12,775,381 (GRCm38)		probably benign	Het
Zzef1	T	C	11: 72,900,637 (GRCm38)	V2189A	probably damaging	Het

Other mutations in Vwa3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01584:Vwa3a	APN	7	120,783,974 (GRCm38)	missense	probably benign	0.09
IGL01807:Vwa3a	APN	7	120,775,506 (GRCm38)	splice site	probably null
IGL02850:Vwa3a	APN	7	120,773,292 (GRCm38)	missense	probably benign	0.00
IGL03253:Vwa3a	APN	7	120,778,869 (GRCm38)	missense	probably benign	0.03
PIT4812001:Vwa3a	UTSW	7	120,776,133 (GRCm38)	missense	probably damaging	1.00
R0026:Vwa3a	UTSW	7	120,780,211 (GRCm38)	missense	probably damaging	1.00
R0114:Vwa3a	UTSW	7	120,775,380 (GRCm38)	missense	probably benign	0.06
R1145:Vwa3a	UTSW	7	120,793,343 (GRCm38)	missense	probably damaging	0.99
R1145:Vwa3a	UTSW	7	120,793,343 (GRCm38)	missense	probably damaging	0.99
R1306:Vwa3a	UTSW	7	120,800,390 (GRCm38)	missense	possibly damaging	0.49
R1355:Vwa3a	UTSW	7	120,784,111 (GRCm38)	missense	probably damaging	1.00
R1412:Vwa3a	UTSW	7	120,780,154 (GRCm38)	missense	probably damaging	1.00
R1466:Vwa3a	UTSW	7	120,768,165 (GRCm38)	missense	probably damaging	1.00
R1466:Vwa3a	UTSW	7	120,768,165 (GRCm38)	missense	probably damaging	1.00
R1584:Vwa3a	UTSW	7	120,768,165 (GRCm38)	missense	probably damaging	1.00
R1686:Vwa3a	UTSW	7	120,780,148 (GRCm38)	missense	probably damaging	1.00
R1710:Vwa3a	UTSW	7	120,804,031 (GRCm38)	splice site	probably null
R1717:Vwa3a	UTSW	7	120,793,386 (GRCm38)	missense	probably benign
R1834:Vwa3a	UTSW	7	120,790,136 (GRCm38)	missense	probably benign	0.06
R1912:Vwa3a	UTSW	7	120,795,627 (GRCm38)	missense	probably damaging	1.00
R1970:Vwa3a	UTSW	7	120,780,171 (GRCm38)	missense	probably damaging	1.00
R1978:Vwa3a	UTSW	7	120,758,954 (GRCm38)	missense	probably null	0.00
R2034:Vwa3a	UTSW	7	120,782,645 (GRCm38)	nonsense	probably null
R2059:Vwa3a	UTSW	7	120,758,949 (GRCm38)	missense	probably damaging	0.98
R2120:Vwa3a	UTSW	7	120,792,418 (GRCm38)	missense	probably benign
R2408:Vwa3a	UTSW	7	120,773,294 (GRCm38)	missense	probably benign	0.00
R3423:Vwa3a	UTSW	7	120,799,111 (GRCm38)	missense	probably damaging	1.00
R3744:Vwa3a	UTSW	7	120,752,594 (GRCm38)	missense	probably benign
R3816:Vwa3a	UTSW	7	120,800,379 (GRCm38)	missense	probably benign	0.29
R3849:Vwa3a	UTSW	7	120,762,464 (GRCm38)	nonsense	probably null
R3904:Vwa3a	UTSW	7	120,758,876 (GRCm38)	missense	probably benign
R4031:Vwa3a	UTSW	7	120,768,232 (GRCm38)	critical splice donor site	probably null
R4408:Vwa3a	UTSW	7	120,778,926 (GRCm38)	missense	probably benign	0.16
R4628:Vwa3a	UTSW	7	120,793,375 (GRCm38)	missense	probably benign	0.05
R4629:Vwa3a	UTSW	7	120,793,375 (GRCm38)	missense	probably benign	0.05
R4652:Vwa3a	UTSW	7	120,778,915 (GRCm38)	missense	probably damaging	0.96
R4884:Vwa3a	UTSW	7	120,791,701 (GRCm38)	missense	probably benign
R4948:Vwa3a	UTSW	7	120,776,264 (GRCm38)	missense	probably damaging	0.98
R5112:Vwa3a	UTSW	7	120,783,985 (GRCm38)	missense	probably damaging	1.00
R5385:Vwa3a	UTSW	7	120,790,142 (GRCm38)	missense	possibly damaging	0.91
R5386:Vwa3a	UTSW	7	120,790,142 (GRCm38)	missense	possibly damaging	0.91
R5587:Vwa3a	UTSW	7	120,780,235 (GRCm38)	missense	probably damaging	1.00
R5639:Vwa3a	UTSW	7	120,790,143 (GRCm38)	missense	probably damaging	0.99
R6102:Vwa3a	UTSW	7	120,776,138 (GRCm38)	splice site	probably null
R6239:Vwa3a	UTSW	7	120,794,234 (GRCm38)	missense	probably benign	0.00
R6279:Vwa3a	UTSW	7	120,782,400 (GRCm38)	missense	probably damaging	0.98
R6298:Vwa3a	UTSW	7	120,795,651 (GRCm38)	missense	probably benign	0.01
R6300:Vwa3a	UTSW	7	120,782,400 (GRCm38)	missense	probably damaging	0.98
R6336:Vwa3a	UTSW	7	120,762,423 (GRCm38)	missense	possibly damaging	0.93
R6907:Vwa3a	UTSW	7	120,792,581 (GRCm38)	unclassified	probably benign
R7135:Vwa3a	UTSW	7	120,773,030 (GRCm38)	missense	possibly damaging	0.69
R7215:Vwa3a	UTSW	7	120,795,630 (GRCm38)	missense	possibly damaging	0.83
R7282:Vwa3a	UTSW	7	120,786,465 (GRCm38)	missense	probably benign	0.03
R7351:Vwa3a	UTSW	7	120,776,336 (GRCm38)	missense	probably damaging	0.99
R7406:Vwa3a	UTSW	7	120,778,915 (GRCm38)	missense	probably damaging	0.96
R7557:Vwa3a	UTSW	7	120,795,618 (GRCm38)	missense	possibly damaging	0.90
R7612:Vwa3a	UTSW	7	120,752,615 (GRCm38)	missense	probably null	0.47
R7699:Vwa3a	UTSW	7	120,752,618 (GRCm38)	missense	probably damaging	1.00
R7823:Vwa3a	UTSW	7	120,772,962 (GRCm38)	missense	probably damaging	1.00
R8074:Vwa3a	UTSW	7	120,799,098 (GRCm38)	missense	probably benign	0.00
R8730:Vwa3a	UTSW	7	120,782,687 (GRCm38)	missense	probably damaging	0.97
R8768:Vwa3a	UTSW	7	120,776,076 (GRCm38)	missense	probably damaging	1.00
R8941:Vwa3a	UTSW	7	120,776,088 (GRCm38)	missense	probably benign	0.00
R9116:Vwa3a	UTSW	7	120,767,247 (GRCm38)	missense
R9134:Vwa3a	UTSW	7	120,778,436 (GRCm38)	missense	probably damaging	0.96
R9264:Vwa3a	UTSW	7	120,775,464 (GRCm38)	missense	probably benign
R9450:Vwa3a	UTSW	7	120,804,030 (GRCm38)	critical splice donor site	probably null
R9464:Vwa3a	UTSW	7	120,786,459 (GRCm38)	missense	possibly damaging	0.84
R9792:Vwa3a	UTSW	7	120,784,084 (GRCm38)	missense	probably damaging	1.00
R9793:Vwa3a	UTSW	7	120,784,084 (GRCm38)	missense	probably damaging	1.00
V7732:Vwa3a	UTSW	7	120,778,949 (GRCm38)	splice site	probably benign
X0019:Vwa3a	UTSW	7	120,768,209 (GRCm38)	missense	probably damaging	0.99
Z1177:Vwa3a	UTSW	7	120,759,133 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CGAGCAGAGCTTTGAGAGTTG -3'
(R):5'- ACATTGCTGTGGGCTCTCTC -3'

Sequencing Primer
(F):5'- GGAGCTGTCCCCACTCAG -3'
(R):5'- TGGGCTGTACTAGACTCTAACAC -3'

Posted On

2016-10-26