Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01061:Kdelc2'

51853

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: 0.099) question?

Stock #

IGL01061

Quality Score

Status

Chromosome

Chromosomal Location

53384025-53401867 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 53388587 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149383 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037853] [ENSMUST00000214164]

Predicted Effect

probably benign
Transcript: ENSMUST00000037853

SMART Domains

Protein: ENSMUSP00000039313
Gene: ENSMUSG00000034487

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

Predicted Effect

probably benign
Transcript: ENSMUST00000214164

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Ankfy1	T	A	11: 72,728,860	C186*	probably null	Het
Ankmy1	A	T	1: 92,870,974		probably benign	Het
B3gnt2	T	A	11: 22,836,042	E382V	probably damaging	Het
Carmil3	T	G	14: 55,498,630	S610A	possibly damaging	Het
Cfap70	T	C	14: 20,447,625		probably benign	Het
Chek1	G	A	9: 36,714,519	R277C	possibly damaging	Het
Cpb1	T	A	3: 20,266,516	I92L	probably benign	Het
Ddx56	C	T	11: 6,264,671		probably null	Het
Dicer1	A	T	12: 104,706,327	M887K	probably null	Het
Dnajc18	A	G	18: 35,680,942		probably benign	Het
Dock2	A	G	11: 34,705,826	V401A	probably damaging	Het
Dock4	A	C	12: 40,702,969	N434T	probably benign	Het
Ehbp1l1	A	T	19: 5,717,888	M1129K	probably benign	Het
Fam83a	A	T	15: 57,986,375	Y105F	possibly damaging	Het
Fnbp1	C	A	2: 31,083,042	D70Y	probably damaging	Het
Gtf3c2	A	G	5: 31,168,354	F414L	possibly damaging	Het
Kndc1	A	T	7: 139,922,694	E965D	probably benign	Het
Lrrc66	T	C	5: 73,615,499	K209E	probably benign	Het
Mcm3	A	T	1: 20,814,496	I261N	possibly damaging	Het
Mier3	T	A	13: 111,714,436		probably benign	Het
Muc6	T	C	7: 141,648,454	E669G	probably damaging	Het
Myh1	T	A	11: 67,217,862	M1368K	probably benign	Het
Nav1	A	G	1: 135,450,630	I1653T	probably damaging	Het
Nuak1	C	A	10: 84,375,134	L363F	probably damaging	Het
Olfr113	A	G	17: 37,574,904	I173T	possibly damaging	Het
Olfr1502	T	C	19: 13,862,705	V304A	possibly damaging	Het
Olfr690	A	G	7: 105,329,382	I270T	possibly damaging	Het
Pkd1l3	A	G	8: 109,638,706	H1153R	probably damaging	Het
Ppp6r2	A	T	15: 89,286,015		probably benign	Het
Prelid3b	T	C	2: 174,465,821		probably null	Het
Prrt3	T	C	6: 113,497,770	K164E	possibly damaging	Het
Rab22a	T	A	2: 173,688,210	D60E	probably damaging	Het
Rab32	A	G	10: 10,557,874	L72P	probably damaging	Het
Samm50	A	G	15: 84,202,254	T225A	probably benign	Het
Snx27	T	A	3: 94,528,980		probably benign	Het
Taf7	G	A	18: 37,643,433	T27M	probably damaging	Het
Tgm5	A	T	2: 121,071,496	C231S	probably benign	Het
Tll1	A	G	8: 64,038,454		probably null	Het
Tmem150a	A	G	6: 72,357,118	D61G	probably damaging	Het
Ttll8	G	A	15: 88,917,250	R412C	possibly damaging	Het
Ubr3	T	A	2: 69,983,225	D1293E	probably benign	Het
Utp20	T	C	10: 88,770,704	N1669D	probably benign	Het
Vmn2r28	A	G	7: 5,488,184	W355R	probably damaging	Het
Wdr60	C	A	12: 116,229,704	A543S	probably benign	Het
Yars2	C	T	16: 16,306,542	R338*	probably null	Het
Zfhx2	T	A	14: 55,073,882	N452Y	possibly damaging	Het
Zfp180	T	G	7: 24,104,745	D196E	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
IGL01114:Kdelc2	APN	9	53388579	critical splice donor site	probably null
IGL02227:Kdelc2	APN	9	53388479	missense	probably damaging	0.97
IGL02646:Kdelc2	APN	9	53384251	missense	probably benign	0.06
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

2013-06-21