Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03163:Cluh'

411499

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: 0.268) question?

Stock #

IGL03163

Quality Score

Status

Chromosome

Chromosomal Location

74649495-74670847 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74666068 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1029 (V1029A)

Ref Sequence

ENSEMBL: ENSMUSP00000090593 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000092915
AA Change: V1029A

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000090593
Gene: ENSMUSG00000020741
AA Change: V1029A

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 benign
Transcript: ENSMUST00000117818
AA Change: V978A

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113371
Gene: ENSMUSG00000020741
AA Change: V978A

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,181,417	D393V	probably benign	Het
Amz2	C	A	11: 109,428,925	Q46K	probably benign	Het
Ankhd1	G	A	18: 36,647,628	R1911H	probably damaging	Het
Apba3	A	G	10: 81,269,223		probably null	Het
Atxn1l	T	C	8: 109,732,385	N415S	probably damaging	Het
Ccdc36	G	T	9: 108,404,933	L519I	probably benign	Het
Clu	C	T	14: 65,979,786	S356F	probably benign	Het
Creb3	C	T	4: 43,566,315	L274F	probably damaging	Het
Cyhr1	A	T	15: 76,659,274	L13Q	probably damaging	Het
Dcaf8	T	C	1: 172,172,908	V211A	probably damaging	Het
Emilin3	G	A	2: 160,908,729	Q320*	probably null	Het
Fam131c	T	C	4: 141,382,758	F156L	probably damaging	Het
Fbxw21	T	A	9: 109,145,484	I323F	probably benign	Het
Fmo9	A	G	1: 166,674,450	V202A	possibly damaging	Het
Gipr	C	T	7: 19,162,556	W205*	probably null	Het
Gm13941	A	T	2: 111,098,416	I99K	unknown	Het
Gpr22	A	T	12: 31,709,172	V317E	possibly damaging	Het
Hace1	T	C	10: 45,672,605	I582T	probably damaging	Het
Khdrbs1	T	C	4: 129,725,715	E211G	probably benign	Het
Lonrf1	T	C	8: 36,230,330	D500G	probably benign	Het
Lrp2	A	C	2: 69,501,526	Y1628*	probably null	Het
Lrrc40	T	C	3: 158,041,587	I112T	possibly damaging	Het
Matr3	G	A	18: 35,572,591	D190N	probably damaging	Het
Olfr894	T	C	9: 38,219,414	V194A	probably benign	Het
Ptpn13	A	T	5: 103,591,346	D2326V	probably damaging	Het
Ptpn3	T	C	4: 57,222,020	D557G	probably damaging	Het
Rangap1	A	T	15: 81,716,600	N194K	probably damaging	Het
Rasgef1c	T	C	11: 49,971,373	V363A	possibly damaging	Het
Ric8b	A	G	10: 85,001,822	N498D	probably damaging	Het
Scn1a	A	C	2: 66,318,074	D22E	probably benign	Het
Spc25	T	G	2: 69,197,204	I115L	probably damaging	Het
Sspo	A	G	6: 48,484,332	H3569R	probably benign	Het
Stra6l	T	C	4: 45,881,455	I439T	probably benign	Het
Trappc12	G	T	12: 28,746,654	P293Q	probably damaging	Het
Trcg1	T	C	9: 57,248,347	L761P	possibly damaging	Het
Usp15	A	C	10: 123,171,144	M144R	probably damaging	Het
Vmn2r11	T	C	5: 109,053,826	I271V	probably benign	Het
Zcchc2	T	C	1: 106,031,111	V1104A	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
IGL02620:Cluh	APN	11	74665067	nonsense	probably null
IGL02990:Cluh	APN	11	74667765	splice site	probably null
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

2016-08-02