Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02620:Cluh'

300829

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cluh

Ensembl Gene

ENSMUSG00000020741

Gene Name

clustered mitochondria (cluA/CLU1) homolog

Synonyms

1300001I01Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.259) question?

Stock #

IGL02620

Quality Score

Status

Chromosome

Chromosomal Location

74649495-74670847 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 74665067 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 819 (Q819*)

Ref Sequence

ENSEMBL: ENSMUSP00000113371 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092915] [ENSMUST00000117818]

Predicted Effect

probably null
Transcript: ENSMUST00000092915
AA Change: Q870*

SMART Domains

Protein: ENSMUSP00000090593
Gene: ENSMUSG00000020741
AA Change: Q870*

Domain	Start	End	E-Value	Type
Pfam:CLU_N	104	177	3.1e-28	PFAM
Pfam:CLU	394	614	3.4e-89	PFAM
Pfam:eIF3_p135	806	988	1.3e-58	PFAM
Pfam:TPR_10	1059	1100	2.9e-7	PFAM
low complexity region	1114	1125	N/A	INTRINSIC
Pfam:TPR_12	1140	1218	1.7e-10	PFAM
low complexity region	1316	1334	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000117818
AA Change: Q819*

SMART Domains

Protein: ENSMUSP00000113371
Gene: ENSMUSG00000020741
AA Change: Q819*

Domain	Start	End	E-Value	Type
Pfam:CLU_N	102	177	9.8e-30	PFAM
Pfam:CLU	394	615	5.3e-92	PFAM
Pfam:eIF3_p135	796	938	2.9e-38	PFAM
Pfam:TPR_10	1008	1049	9.5e-7	PFAM
low complexity region	1063	1074	N/A	INTRINSIC
Pfam:TPR_12	1089	1167	1.1e-9	PFAM
low complexity region	1265	1283	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128155

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155558

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Constitutive homozygous KO affects liver mitochondrial function and leads to neonatal lethality. Conditional homozygous KO in the adult liver affects cellular respiration under energy stress conditions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	C	T	2: 111,211,625	V322I	probably benign	Het
4932438A13Rik	T	C	3: 37,035,945	V4174A	possibly damaging	Het
Abcc12	A	T	8: 86,505,314		probably null	Het
Ccdc150	T	A	1: 54,263,545	L108*	probably null	Het
Cdon	C	T	9: 35,452,799	T71I	probably benign	Het
Chdh	T	C	14: 30,031,139	W2R	probably damaging	Het
Ckap5	T	G	2: 91,606,369	L1605V	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cwc27	C	A	13: 104,802,206		probably benign	Het
Elk4	C	A	1: 132,018,371	A329D	probably benign	Het
Fbxo40	T	C	16: 36,966,080	H709R	probably benign	Het
Flna	A	G	X: 74,229,976		probably benign	Het
Gm20390	G	T	11: 93,952,856	R173S	possibly damaging	Het
Grip2	G	T	6: 91,778,606	D592E	possibly damaging	Het
H2-T24	T	G	17: 36,017,291	N100T	probably damaging	Het
Hepacam2	C	A	6: 3,487,280		probably benign	Het
Ighv2-2	T	A	12: 113,588,292	T109S	possibly damaging	Het
Ipo11	T	C	13: 106,876,281		probably null	Het
Kcnh8	T	C	17: 52,898,497	M540T	probably damaging	Het
Kifc3	A	G	8: 95,109,954	S82P	probably damaging	Het
Map4k5	T	C	12: 69,892,702	Y20C	probably benign	Het
Milr1	C	A	11: 106,754,918	S95R	probably damaging	Het
Mtnr1b	A	C	9: 15,874,321	V47G	possibly damaging	Het
Olfr2	T	A	7: 107,001,618	K81*	probably null	Het
Phactr2	T	C	10: 13,291,888	R100G	probably damaging	Het
Ppargc1b	A	G	18: 61,298,739	Y997H	probably damaging	Het
Pramel3	A	G	X: 135,310,409	M397V	probably benign	Het
Ptprz1	A	G	6: 22,959,740	K79E	probably damaging	Het
Rabgef1	T	C	5: 130,191,022	S109P	probably damaging	Het
Raf1	A	T	6: 115,632,887		probably benign	Het
Rptor	T	C	11: 119,780,587	L292P	probably benign	Het
Slc25a45	A	G	19: 5,884,526	D174G	probably damaging	Het
Tbcd	C	T	11: 121,461,255	T146M	probably damaging	Het
Zfp458	T	A	13: 67,257,994	H127L	probably damaging	Het

Other mutations in Cluh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Cluh	APN	11	74664064	missense	probably benign	0.28
IGL00858:Cluh	APN	11	74659605	missense	possibly damaging	0.86
IGL01380:Cluh	APN	11	74665946	missense	probably benign	0.04
IGL02402:Cluh	APN	11	74657171	missense	probably damaging	1.00
IGL02990:Cluh	APN	11	74667765	splice site	probably null
IGL03163:Cluh	APN	11	74666068	missense	probably benign	0.44
IGL03208:Cluh	APN	11	74669506	splice site	probably null
IGL03293:Cluh	APN	11	74665752	missense	probably benign	0.03
IGL03408:Cluh	APN	11	74665953	missense	probably benign	0.06
spent	UTSW	11	74660372	missense	probably damaging	1.00
FR4342:Cluh	UTSW	11	74669524	small insertion	probably benign
FR4342:Cluh	UTSW	11	74669526	small insertion	probably benign
FR4449:Cluh	UTSW	11	74669532	small insertion	probably benign
FR4589:Cluh	UTSW	11	74669531	small insertion	probably benign
FR4737:Cluh	UTSW	11	74669514	small insertion	probably benign
FR4737:Cluh	UTSW	11	74669519	small insertion	probably benign
FR4737:Cluh	UTSW	11	74669524	small insertion	probably benign
FR4737:Cluh	UTSW	11	74669533	small insertion	probably benign
FR4976:Cluh	UTSW	11	74669520	small insertion	probably benign
R0147:Cluh	UTSW	11	74665938	missense	probably damaging	1.00
R0153:Cluh	UTSW	11	74657350	splice site	probably benign
R0506:Cluh	UTSW	11	74664894	missense	probably benign	0.20
R0526:Cluh	UTSW	11	74665986	missense	probably benign	0.05
R0834:Cluh	UTSW	11	74663805	missense	probably benign	0.02
R1873:Cluh	UTSW	11	74662076	missense	possibly damaging	0.72
R1991:Cluh	UTSW	11	74659529	nonsense	probably null
R1992:Cluh	UTSW	11	74660002	missense	probably damaging	1.00
R2095:Cluh	UTSW	11	74661724	nonsense	probably null
R2101:Cluh	UTSW	11	74660502	splice site	probably benign
R2103:Cluh	UTSW	11	74659529	nonsense	probably null
R2220:Cluh	UTSW	11	74667121	missense	probably damaging	1.00
R3702:Cluh	UTSW	11	74665356	missense	probably benign
R3853:Cluh	UTSW	11	74656453	missense	probably benign	0.00
R3900:Cluh	UTSW	11	74667104	missense	probably benign	0.29
R4891:Cluh	UTSW	11	74665059	missense	possibly damaging	0.51
R4895:Cluh	UTSW	11	74667405	missense	probably damaging	1.00
R5056:Cluh	UTSW	11	74661946	missense	probably damaging	1.00
R5089:Cluh	UTSW	11	74660372	missense	probably damaging	1.00
R5217:Cluh	UTSW	11	74659705	missense	probably damaging	1.00
R5346:Cluh	UTSW	11	74665218	missense	probably damaging	1.00
R5382:Cluh	UTSW	11	74665109	intron	probably benign
R5516:Cluh	UTSW	11	74660444	missense	probably damaging	1.00
R5809:Cluh	UTSW	11	74661700	missense	probably damaging	1.00
R6146:Cluh	UTSW	11	74667228	splice site	probably null
R6326:Cluh	UTSW	11	74666242	missense	probably benign	0.10
R6541:Cluh	UTSW	11	74657214	missense	probably damaging	1.00
R6674:Cluh	UTSW	11	74666227	missense	probably damaging	1.00
R6870:Cluh	UTSW	11	74665384	missense	probably damaging	1.00
R6875:Cluh	UTSW	11	74661918	missense	probably damaging	1.00
R7086:Cluh	UTSW	11	74667340	missense	possibly damaging	0.46
R7225:Cluh	UTSW	11	74666406	splice site	probably null
R7310:Cluh	UTSW	11	74669459	missense	probably benign	0.10
R7317:Cluh	UTSW	11	74665704	missense	possibly damaging	0.90
R7674:Cluh	UTSW	11	74667720	missense	probably damaging	1.00
R7941:Cluh	UTSW	11	74659757	missense	probably benign	0.00
RF020:Cluh	UTSW	11	74669538	small insertion	probably benign
RF032:Cluh	UTSW	11	74669515	small insertion	probably benign
X0028:Cluh	UTSW	11	74663466	missense	probably benign	0.26
Z1177:Cluh	UTSW	11	74667754	missense	possibly damaging	0.82

Posted On

2015-04-16