Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02646:Kdelc2'

301961

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kdelc2

Ensembl Gene

ENSMUSG00000034487

Gene Name

KDEL (Lys-Asp-Glu-Leu) containing 2

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

IGL02646

Quality Score

Status

Chromosome

Chromosomal Location

53384025-53401867 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53384251 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 51 (D51G)

Ref Sequence

ENSEMBL: ENSMUSP00000039313 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037853]

Predicted Effect

probably benign
Transcript: ENSMUST00000037853
AA Change: D51G

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000039313
Gene: ENSMUSG00000034487
AA Change: D51G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG_FLMN	23	132	2.17e-2	SMART
Blast:CAP10	135	224	5e-48	BLAST
CAP10	226	471	7.45e-68	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	T	A	4: 137,454,790	Y85*	probably null	Het
Abcg2	A	G	6: 58,685,696	I508V	probably benign	Het
Adgrb2	T	C	4: 130,019,282		probably null	Het
Api5	T	A	2: 94,429,839	H24L	possibly damaging	Het
Apoh	T	C	11: 108,412,142	V311A	probably benign	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Brca2	G	T	5: 150,560,790	V2994L	possibly damaging	Het
Brd1	A	T	15: 88,700,877	V918D	probably damaging	Het
Calr3	T	G	8: 72,443,460	D43A	possibly damaging	Het
Cdh16	T	C	8: 104,622,105		probably null	Het
Cep192	T	C	18: 67,862,477	S2033P	probably damaging	Het
Dnah7a	G	A	1: 53,525,035	T1955M	probably damaging	Het
Dock10	T	A	1: 80,574,123	Y665F	probably damaging	Het
Dync1i1	A	G	6: 5,767,034	D86G	probably benign	Het
Eri2	T	C	7: 119,786,108	D390G	possibly damaging	Het
Fank1	C	T	7: 133,880,029		probably benign	Het
Hoxb7	A	T	11: 96,286,744	Y6F	possibly damaging	Het
Hspg2	A	C	4: 137,551,848	S3081R	possibly damaging	Het
Kcnt1	T	A	2: 25,900,880		probably benign	Het
Med13	A	G	11: 86,283,386	I1762T	probably benign	Het
Mia2	A	G	12: 59,108,836	D445G	probably damaging	Het
Olfr1099	T	C	2: 86,959,353	Y35C	probably damaging	Het
Plcg2	A	T	8: 117,603,883	I827F	possibly damaging	Het
Rnls	C	A	19: 33,138,284		probably benign	Het
Scn1a	A	T	2: 66,299,618		probably null	Het
Sec22b	T	A	3: 97,921,245	V208E	possibly damaging	Het
Slc8a3	A	T	12: 81,315,094	I317N	probably damaging	Het
Snx33	A	G	9: 56,926,759	Y9H	probably damaging	Het
Stard9	C	A	2: 120,698,992	T1910N	probably damaging	Het
Tas2r122	T	A	6: 132,711,790	I47F	probably damaging	Het
Tedc1	T	G	12: 113,157,301	L118V	possibly damaging	Het
Tln2	A	T	9: 67,255,996	S1090T	probably benign	Het
Tpcn2	T	C	7: 145,258,574	D511G	probably benign	Het
Usp21	T	C	1: 171,283,095		probably benign	Het
Vmn2r17	T	A	5: 109,453,080	L748Q	probably damaging	Het
Zp2	T	C	7: 120,135,341	D495G	possibly damaging	Het

Other mutations in Kdelc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Kdelc2	APN	9	53398028	intron	probably benign
IGL00334:Kdelc2	APN	9	53398030	intron	probably benign
IGL01061:Kdelc2	APN	9	53388587	unclassified	probably benign
IGL01114:Kdelc2	APN	9	53388579	critical splice donor site	probably null
IGL02227:Kdelc2	APN	9	53388479	missense	probably damaging	0.97
IGL02795:Kdelc2	APN	9	53392105	missense	probably damaging	1.00
IGL03029:Kdelc2	APN	9	53384288	critical splice donor site	probably null
R0830:Kdelc2	UTSW	9	53390711	missense	probably damaging	1.00
R1256:Kdelc2	UTSW	9	53388462	missense	possibly damaging	0.62
R1806:Kdelc2	UTSW	9	53395850	missense	probably damaging	1.00
R5995:Kdelc2	UTSW	9	53395895	missense	probably damaging	0.98
R6170:Kdelc2	UTSW	9	53399742	missense	possibly damaging	0.91
R6348:Kdelc2	UTSW	9	53390440	missense	probably damaging	0.97
R6833:Kdelc2	UTSW	9	53392008	missense	possibly damaging	0.52
R7250:Kdelc2	UTSW	9	53390521	nonsense	probably null
R7403:Kdelc2	UTSW	9	53390441	missense	probably damaging	1.00
R8089:Kdelc2	UTSW	9	53395962	missense	probably benign	0.04

Posted On

2015-04-16