Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03208:Cluh'

413209

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: 0.305) question?

Stock #

IGL03208

Quality Score

Status

Chromosome

Chromosomal Location

74649495-74670847 bp(+) (GRCm38)

Type of Mutation

splice site (4444 bp from exon)

DNA Base Change (assembly)

C to A at 74669506 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099578 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021091] [ENSMUST00000092915] [ENSMUST00000102520] [ENSMUST00000117818]

Predicted Effect

probably null
Transcript: ENSMUST00000021091

SMART Domains

Protein: ENSMUSP00000021091
Gene: ENSMUSG00000020745

Domain	Start	End	E-Value	Type
LisH	7	39	6.12e-7	SMART
WD40	97	136	2.1e-7	SMART
WD40	139	178	9.73e-12	SMART
WD40	181	220	1.1e-10	SMART
WD40	223	262	9.3e-9	SMART
WD40	265	324	4.65e-9	SMART
WD40	327	366	4.11e-10	SMART
WD40	369	408	8.81e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000092915
AA Change: P1320T

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

SMART Domains

Protein: ENSMUSP00000090593
Gene: ENSMUSG00000020741
AA Change: P1320T

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: ENSMUST00000102520

SMART Domains

Protein: ENSMUSP00000099578
Gene: ENSMUSG00000020745

Domain	Start	End	E-Value	Type
LisH	7	39	6.12e-7	SMART
WD40	97	136	2.1e-7	SMART
WD40	139	178	9.73e-12	SMART
WD40	181	220	1.1e-10	SMART
WD40	223	262	9.3e-9	SMART
WD40	265	324	4.65e-9	SMART
WD40	327	366	4.11e-10	SMART
WD40	369	408	8.81e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117818
AA Change: P1269T

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

SMART Domains

Protein: ENSMUSP00000113371
Gene: ENSMUSG00000020741
AA Change: P1269T

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: ENSMUST00000126341

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128155

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155558

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156794

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	T	C	4: 40,186,424	V612A	possibly damaging	Het
Cd72	T	A	4: 43,452,337	T195S	probably damaging	Het
Cntn3	T	C	6: 102,187,099	Y882C	probably damaging	Het
Ctnnal1	T	A	4: 56,813,833	K645N	probably benign	Het
Entpd6	T	A	2: 150,768,918	Y385N	probably damaging	Het
Epha3	T	C	16: 63,611,089	Y484C	probably damaging	Het
Exo1	G	A	1: 175,896,245	A386T	probably benign	Het
Fam149b	T	C	14: 20,351,302		probably benign	Het
Fastkd2	G	A	1: 63,739,206	E413K	probably damaging	Het
Fbxl3	A	T	14: 103,082,940	L405*	probably null	Het
Gpr75	A	T	11: 30,892,699	I535F	probably damaging	Het
Irf2	A	C	8: 46,807,305	I53L	probably damaging	Het
Lca5l	T	C	16: 96,178,846	E28G	probably damaging	Het
Mon2	A	G	10: 123,018,069		probably benign	Het
Olfr419	A	G	1: 174,250,393	F178S	probably damaging	Het
Olfr503	T	C	7: 108,545,119	V196A	probably benign	Het
Plekhm1	T	C	11: 103,376,770	K792E	probably benign	Het
Ppp1r14c	A	T	10: 3,423,531	D114V	probably damaging	Het
Rnf20	G	T	4: 49,645,706		probably benign	Het
Srgap1	G	A	10: 121,792,266	P934S	possibly damaging	Het
Sult2b1	T	C	7: 45,733,629	E243G	probably damaging	Het
Tecta	A	G	9: 42,337,100		probably benign	Het
Tshr	T	C	12: 91,533,942	L147P	probably damaging	Het
Vmn1r67	T	A	7: 10,447,098	S96R	possibly 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
IGL03163:Cluh	APN	11	74666068	missense	probably benign	0.44
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