Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02551:Vwce'

298086

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vwce

Ensembl Gene

ENSMUSG00000043789

Gene Name

von Willebrand factor C and EGF domains

Synonyms

1300015B04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL02551

Quality Score

Status

Chromosome

Chromosomal Location

10634233-10665210 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10645036 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 234 (H234R)

Ref Sequence

ENSEMBL: ENSMUSP00000056958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055115]

AlphaFold

Q3U515

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055115
AA Change: H234R

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000056958
Gene: ENSMUSG00000043789
AA Change: H234R

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
EGF	70	98	2.2e1	SMART
EGF_CA	142	180	6.91e-9	SMART
EGF_CA	181	219	7.75e-12	SMART
EGF_CA	220	262	1.11e-12	SMART
low complexity region	294	312	N/A	INTRINSIC
low complexity region	335	353	N/A	INTRINSIC
VWC	378	432	2.91e-6	SMART
VWC	435	488	4.58e-4	SMART
VWC	493	551	2.06e-6	SMART
VWC	560	617	9.74e-8	SMART
VWC	621	676	1.35e-10	SMART
VWC	679	725	2.58e-1	SMART
low complexity region	761	772	N/A	INTRINSIC
low complexity region	889	903	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	G	A	1: 158,969,048		noncoding transcript	Het
Abca8a	T	C	11: 110,084,242	I109V	probably benign	Het
Acsm2	C	T	7: 119,573,284	P117S	probably damaging	Het
Adamts18	C	A	8: 113,699,072	C1186F	probably damaging	Het
Adamts5	A	T	16: 85,870,038	V522E	possibly damaging	Het
Adcy10	A	G	1: 165,543,233	T694A	probably damaging	Het
Adgra2	G	A	8: 27,119,222	V609I	probably benign	Het
Agbl3	A	G	6: 34,823,071	K638R	possibly damaging	Het
Alpk2	T	A	18: 65,372,751	N66I	probably damaging	Het
Ap3b1	T	A	13: 94,418,091	I245N	probably damaging	Het
Aqp9	A	G	9: 71,132,640	V120A	probably damaging	Het
Arhgef17	T	C	7: 100,930,346	E465G	probably damaging	Het
Btrc	G	T	19: 45,423,134	C31F	possibly damaging	Het
Calhm2	G	A	19: 47,133,100	S210L	probably damaging	Het
Cnksr3	C	A	10: 7,152,912	K153N	probably damaging	Het
Cnr1	T	C	4: 33,943,686	S25P	probably benign	Het
Dnajc6	T	A	4: 101,639,353	W838R	probably damaging	Het
Fam78a	T	A	2: 32,069,556	T181S	probably damaging	Het
Fat1	A	G	8: 45,051,398	T4600A	probably damaging	Het
Fbxo31	A	T	8: 121,566,344	Y101N	probably damaging	Het
Glmp	A	G	3: 88,325,082	M1V	probably null	Het
Gsdmc	T	A	15: 63,801,933	T168S	probably benign	Het
Has1	C	T	17: 17,848,298	V265I	probably damaging	Het
Hmcn2	A	G	2: 31,454,811	D4670G	possibly damaging	Het
Kcnj4	C	T	15: 79,484,902	M292I	probably benign	Het
Kmo	A	T	1: 175,637,919	S80C	probably damaging	Het
Lrrc8d	C	T	5: 105,813,548	T608I	possibly damaging	Het
Mical2	A	T	7: 112,323,990	N635I	probably benign	Het
Nags	T	C	11: 102,147,941	S403P	probably damaging	Het
Nalcn	T	A	14: 123,323,338	I776F	probably benign	Het
Ncan	A	T	8: 70,102,462	N1018K	probably damaging	Het
Notch3	T	A	17: 32,154,731		probably benign	Het
Nup93	C	T	8: 94,227,833	Q53*	probably null	Het
Pdk2	T	A	11: 95,028,586	M288L	probably benign	Het
Pkd1	A	G	17: 24,573,815	Y1492C	probably damaging	Het
Pla2g12b	T	A	10: 59,403,870	W34R	probably damaging	Het
Pla2g6	T	A	15: 79,299,094	D511V	possibly damaging	Het
Plin2	C	A	4: 86,658,692	M265I	probably benign	Het
Ppp6c	A	T	2: 39,206,657	F78I	probably damaging	Het
Prop1	A	T	11: 50,950,946	M211K	possibly damaging	Het
Prr14l	T	A	5: 32,831,484	E222D	probably damaging	Het
Rtkn	A	T	6: 83,151,924	I454F	probably damaging	Het
Serinc2	T	C	4: 130,260,774	I226V	probably benign	Het
Sh3bp1	T	A	15: 78,904,338	H229Q	probably benign	Het
Slc13a3	G	T	2: 165,424,573	F348L	probably damaging	Het
Slc6a15	T	A	10: 103,404,275		probably benign	Het
Spg7	G	A	8: 123,076,978	G249E	probably damaging	Het
Tbc1d2	T	C	4: 46,649,916	D40G	probably benign	Het
Tmcc2	A	G	1: 132,357,579	L683P	probably damaging	Het
Triobp	T	C	15: 78,973,489	S1097P	probably benign	Het
Tspan9	T	C	6: 127,965,763	D167G	probably null	Het
Ttll6	T	C	11: 96,154,700	I581T	probably benign	Het
Usp29	A	G	7: 6,963,353		probably null	Het
Vgll4	A	G	6: 114,862,293	W246R	probably damaging	Het
Vmn2r26	T	C	6: 124,026,141	V170A	probably benign	Het
Vmn2r62	T	C	7: 42,788,506	T185A	probably benign	Het
Zfp292	T	C	4: 34,806,462	E2194G	possibly damaging	Het

Other mutations in Vwce

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Vwce	APN	19	10664511	splice site	probably null
IGL01358:Vwce	APN	19	10664409	missense	possibly damaging	0.86
IGL02330:Vwce	APN	19	10646801	missense	possibly damaging	0.96
IGL02477:Vwce	APN	19	10664618	splice site	probably null
IGL02606:Vwce	APN	19	10655348	splice site	probably benign
IGL02633:Vwce	APN	19	10648494	missense	probably damaging	0.98
IGL02656:Vwce	APN	19	10664352	missense	probably benign
IGL02884:Vwce	APN	19	10646579	missense	possibly damaging	0.53
IGL02973:Vwce	APN	19	10655400	nonsense	probably null
IGL03038:Vwce	APN	19	10646671	missense	possibly damaging	0.86
IGL03329:Vwce	APN	19	10659996	missense	possibly damaging	0.73
PIT4403001:Vwce	UTSW	19	10638097	missense	possibly damaging	0.53
PIT4431001:Vwce	UTSW	19	10664582	missense	possibly damaging	0.53
PIT4519001:Vwce	UTSW	19	10664582	missense	possibly damaging	0.53
R0042:Vwce	UTSW	19	10646813	missense	probably benign
R0081:Vwce	UTSW	19	10664089	critical splice acceptor site	probably null
R0142:Vwce	UTSW	19	10664612	missense	probably damaging	0.97
R0165:Vwce	UTSW	19	10659973	splice site	probably benign
R0948:Vwce	UTSW	19	10653077	missense	probably damaging	1.00
R1053:Vwce	UTSW	19	10664099	missense	probably benign	0.18
R1505:Vwce	UTSW	19	10664244	missense	probably benign
R1623:Vwce	UTSW	19	10646744	nonsense	probably null
R1672:Vwce	UTSW	19	10653095	missense	possibly damaging	0.92
R1882:Vwce	UTSW	19	10638156	missense	possibly damaging	0.53
R3849:Vwce	UTSW	19	10646905	missense	probably damaging	0.97
R4292:Vwce	UTSW	19	10659632	missense	probably benign	0.00
R4293:Vwce	UTSW	19	10659632	missense	probably benign	0.00
R4531:Vwce	UTSW	19	10664346	missense	probably benign	0.01
R4678:Vwce	UTSW	19	10664648	missense	possibly damaging	0.86
R4720:Vwce	UTSW	19	10648467	missense	possibly damaging	0.85
R4737:Vwce	UTSW	19	10650579	missense	probably benign	0.33
R4864:Vwce	UTSW	19	10650636	missense	probably benign	0.01
R4916:Vwce	UTSW	19	10646879	missense	probably damaging	0.98
R4939:Vwce	UTSW	19	10645050	missense	probably damaging	0.98
R5605:Vwce	UTSW	19	10658038	missense	possibly damaging	0.95
R5735:Vwce	UTSW	19	10647067	missense	probably benign	0.08
R5780:Vwce	UTSW	19	10650619	missense	probably damaging	1.00
R6158:Vwce	UTSW	19	10644221	missense	possibly damaging	0.91
R6383:Vwce	UTSW	19	10659592	nonsense	probably null
R6920:Vwce	UTSW	19	10664693	missense	probably benign
R7201:Vwce	UTSW	19	10638115	missense	possibly damaging	0.72
R7276:Vwce	UTSW	19	10664174	missense	possibly damaging	0.53
R7423:Vwce	UTSW	19	10664340	missense	probably benign	0.02
R7474:Vwce	UTSW	19	10646941	missense	possibly damaging	0.93
R7843:Vwce	UTSW	19	10664283	missense	probably benign	0.01
R8254:Vwce	UTSW	19	10650574	missense	probably damaging	0.98
R8782:Vwce	UTSW	19	10638127	missense	probably benign	0.33
R9154:Vwce	UTSW	19	10648486	missense	possibly damaging	0.91
R9369:Vwce	UTSW	19	10646697	missense	probably benign	0.04
R9458:Vwce	UTSW	19	10654324	missense	possibly damaging	0.95
R9664:Vwce	UTSW	19	10638117	missense	probably benign	0.33
RF020:Vwce	UTSW	19	10653085	missense	probably damaging	1.00
X0018:Vwce	UTSW	19	10656662	missense	possibly damaging	0.86
Z1177:Vwce	UTSW	19	10646863	missense	possibly damaging	0.70

Posted On

2015-04-16