Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02656:Vwce'

302333

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

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL02656

Quality Score

Status

Chromosome

Chromosomal Location

10634233-10665210 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10664352 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 814 (I814K)

Ref Sequence

ENSEMBL: ENSMUSP00000056958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025647] [ENSMUST00000055115]

Predicted Effect

probably benign
Transcript: ENSMUST00000025647

SMART Domains

Protein: ENSMUSP00000025647
Gene: ENSMUSG00000024738

Domain	Start	End	E-Value	Type
Pfam:A1_Propeptide	16	44	1.1e-13	PFAM
Pfam:Asp	73	386	1.1e-112	PFAM
Pfam:TAXi_N	74	229	7.6e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000055115
AA Change: I814K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000056958
Gene: ENSMUSG00000043789
AA Change: I814K

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	G	T	14: 31,702,240	A981D	possibly damaging	Het
Ccdc69	G	T	11: 55,052,437	Q114K	possibly damaging	Het
Cct5	A	T	15: 31,597,430	D66E	probably damaging	Het
Ces2e	G	T	8: 104,927,056	R42I	possibly damaging	Het
Cib2	T	G	9: 54,545,898	D178A	probably damaging	Het
Cldn7	G	A	11: 69,967,008	V97I	probably benign	Het
Dok3	A	T	13: 55,528,480	I12N	probably damaging	Het
Fndc5	T	A	4: 129,139,446	V102E	probably damaging	Het
Gas2	T	C	7: 51,943,744	S191P	probably benign	Het
Herc6	T	A	6: 57,611,836		probably null	Het
Krt18	A	G	15: 102,030,922	T277A	probably benign	Het
Mpp3	A	G	11: 102,008,601	S365P	probably benign	Het
Msmo1	T	C	8: 64,727,872	T3A	probably benign	Het
Olfr1509	G	T	14: 52,450,709	A99S	possibly damaging	Het
Olfr1537	T	A	9: 39,238,160	E88V	probably benign	Het
Olfr394	A	G	11: 73,888,039	F111S	probably damaging	Het
Pex19	C	A	1: 172,130,685	A77E	probably benign	Het
Phf20l1	A	G	15: 66,629,827	D620G	probably damaging	Het
Prr5	A	G	15: 84,699,136	D105G	probably damaging	Het
Rab12	T	A	17: 66,506,054	K88M	probably damaging	Het
Rictor	T	C	15: 6,776,920	V673A	probably damaging	Het
Rps26	A	G	10: 128,625,257	S88P	possibly damaging	Het
Sema5a	T	A	15: 32,631,285	S605T	possibly damaging	Het
Slc35a4	T	C	18: 36,682,447	M110T	probably damaging	Het
Sowahb	T	C	5: 93,043,247	S538G	probably benign	Het
Srrt	T	A	5: 137,299,676		probably benign	Het
Ssbp2	G	A	13: 91,669,752		probably benign	Het
Supt20	C	T	3: 54,708,395	R236W	probably damaging	Het
Tenm4	A	G	7: 96,885,433	D1791G	probably damaging	Het
Tgm6	G	A	2: 130,145,103	G497D	probably damaging	Het
Trim12c	C	T	7: 104,341,203	V356I	probably 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
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
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
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