Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03038:Vwce'

408799

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 #

IGL03038

Quality Score

Status

Chromosome

Chromosomal Location

10634233-10665210 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10646671 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 309 (Y309N)

Ref Sequence

ENSEMBL: ENSMUSP00000056958 (fasta)

Gene Model

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

AlphaFold

Q3U515

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055115
AA Change: Y309N

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000056958
Gene: ENSMUSG00000043789
AA Change: Y309N

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	T	C	7: 131,428,456	Y111H	probably damaging	Het
Arhgef6	C	T	X: 57,245,606	V262I	probably benign	Het
Arsk	C	A	13: 76,065,513		probably benign	Het
Ces1b	T	C	8: 93,067,052	E303G	probably benign	Het
Chst9	T	C	18: 15,495,303	Q55R	probably benign	Het
Cntnap3	A	T	13: 64,741,025	D1153E	possibly damaging	Het
D130043K22Rik	A	G	13: 24,879,619	E681G	probably damaging	Het
Fhad1	T	C	4: 142,002,494	E66G	probably benign	Het
Flii	T	C	11: 60,724,832	T69A	probably benign	Het
Foxl1	A	C	8: 121,128,419	E153A	probably damaging	Het
Gstm3	T	C	3: 107,966,169	D162G	possibly damaging	Het
Gtpbp3	G	A	8: 71,489,303	V96I	possibly damaging	Het
Insig2	G	A	1: 121,319,674	T56I	probably damaging	Het
Kif13a	A	G	13: 46,772,838	L264P	probably damaging	Het
Lama3	T	G	18: 12,419,250	C420G	probably damaging	Het
Lrp2	C	T	2: 69,475,464	G2918S	probably damaging	Het
Lrrc8b	T	C	5: 105,481,492	L568P	probably damaging	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Malrd1	G	A	2: 16,127,967	D1900N	unknown	Het
Mastl	C	A	2: 23,140,615		probably benign	Het
Med24	T	G	11: 98,716,184	T276P	possibly damaging	Het
Naip1	A	C	13: 100,437,333	Y239*	probably null	Het
Nhsl2	A	G	X: 102,078,885	K765E	probably damaging	Het
Npy	A	G	6: 49,823,608	N4S	probably benign	Het
Nsun2	A	G	13: 69,619,584	D188G	probably damaging	Het
Olfr794	A	G	10: 129,570,921	T89A	probably benign	Het
Pde1a	C	A	2: 79,887,946		probably benign	Het
Pik3cb	G	A	9: 99,065,597	A509V	probably damaging	Het
Pou2f2	C	T	7: 25,097,152	S315N	probably damaging	Het
Prdm2	A	C	4: 143,134,001	S906R	probably damaging	Het
Prkaca	C	A	8: 83,994,951	Q300K	probably benign	Het
Prox2	T	C	12: 85,095,264	D55G	possibly damaging	Het
Ryr3	T	A	2: 112,668,120	T3612S	possibly damaging	Het
S1pr1	T	A	3: 115,712,694	I84L	possibly damaging	Het
Slc47a1	C	T	11: 61,353,092	V384M	probably benign	Het
Slc6a20b	T	C	9: 123,597,329	N497S	possibly damaging	Het
Spen	C	A	4: 141,538,239	R3L	unknown	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Ttll6	T	C	11: 96,151,960	F444S	probably damaging	Het
Vwf	T	C	6: 125,604,157	L586P	possibly damaging	Het
Wdr35	T	C	12: 8,974,185		probably benign	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
IGL02551:Vwce	APN	19	10645036	missense	possibly damaging	0.71
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
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

2016-08-02