Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00095:Cluh'

1156

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cluh

Ensembl Gene

ENSMUSG00000020741

Gene Name

clustered mitochondria homolog

Synonyms

1300001I01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

IGL00095

Quality Score

Status

Chromosome

Chromosomal Location

74540321-74561673 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74554890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 776 (V776A)

Ref Sequence

ENSEMBL: ENSMUSP00000113371 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000092915
AA Change: V776A

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000090593
Gene: ENSMUSG00000020741
AA Change: V776A

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: V776A

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113371
Gene: ENSMUSG00000020741
AA Change: V776A

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
Cadm2	A	T	16: 66,679,639 (GRCm39)	Y65N	probably damaging	Het
Catsperg2	C	A	7: 29,397,483 (GRCm39)	C1042F	possibly damaging	Het
Crxos	T	A	7: 15,632,543 (GRCm39)	C116*	probably null	Het
Csmd1	A	G	8: 16,059,297 (GRCm39)		probably benign	Het
Cubn	C	A	2: 13,496,631 (GRCm39)		probably benign	Het
Exoc2	A	G	13: 31,004,609 (GRCm39)	I858T	probably benign	Het
Frmpd1	C	A	4: 45,279,456 (GRCm39)	T727K	possibly damaging	Het
Hapln3	T	C	7: 78,771,731 (GRCm39)	T53A	probably damaging	Het
Hnrnpul1	T	A	7: 25,425,579 (GRCm39)	Q584L	possibly damaging	Het
Ikbkb	A	T	8: 23,196,127 (GRCm39)	F26I	probably damaging	Het
Il31ra	A	T	13: 112,684,012 (GRCm39)	I120N	possibly damaging	Het
Itih1	C	T	14: 30,651,778 (GRCm39)	V855M	probably benign	Het
Krtap4-16	A	G	11: 99,742,032 (GRCm39)	S123P	possibly damaging	Het
Large1	C	T	8: 73,564,125 (GRCm39)	R547Q	probably damaging	Het
Madd	A	G	2: 91,006,111 (GRCm39)		probably benign	Het
Mark1	A	G	1: 184,630,800 (GRCm39)	V770A	probably damaging	Het
Mpeg1	T	C	19: 12,440,074 (GRCm39)	F511L	probably benign	Het
Mrgpra9	A	G	7: 46,884,839 (GRCm39)	V276A	possibly damaging	Het
Nav3	T	C	10: 109,677,594 (GRCm39)	T666A	probably damaging	Het
Ndufa8	T	C	2: 35,934,467 (GRCm39)	D37G	probably damaging	Het
Nlrx1	A	G	9: 44,164,576 (GRCm39)	L956P	probably damaging	Het
Nr5a1	T	C	2: 38,598,353 (GRCm39)	E148G	probably benign	Het
Or10ab5	A	T	7: 108,245,043 (GRCm39)	F247I	possibly damaging	Het
Or14c46	T	C	7: 85,918,877 (GRCm39)	N40S	probably damaging	Het
Otulinl	A	G	15: 27,658,202 (GRCm39)	S273P	possibly damaging	Het
Patj	A	C	4: 98,423,799 (GRCm39)	Q1184P	possibly damaging	Het
Phf20l1	A	G	15: 66,500,884 (GRCm39)	T619A	probably benign	Het
Pla2g6	T	C	15: 79,173,441 (GRCm39)	T643A	probably damaging	Het
Pramel42	T	C	5: 94,685,663 (GRCm39)	L441P	probably damaging	Het
Radil	A	G	5: 142,483,677 (GRCm39)	S510P	probably damaging	Het
Spock1	A	G	13: 57,735,552 (GRCm39)		probably benign	Het
Stag3	C	T	5: 138,297,400 (GRCm39)	T577M	probably damaging	Het
Tap2	C	T	17: 34,434,352 (GRCm39)	R613C	probably benign	Het
Tnn	A	G	1: 159,953,021 (GRCm39)	V673A	possibly damaging	Het
Trrap	T	C	5: 144,716,784 (GRCm39)		probably benign	Het
Vmn2r28	T	C	7: 5,491,068 (GRCm39)	D393G	probably benign	Het
Zbtb48	T	C	4: 152,105,851 (GRCm39)	H418R	probably damaging	Het
Zc3h12d	T	C	10: 7,738,231 (GRCm39)	V179A	probably damaging	Het

Other mutations in Cluh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00858:Cluh	APN	11	74,550,431 (GRCm39)	missense	possibly damaging	0.86
IGL01380:Cluh	APN	11	74,556,772 (GRCm39)	missense	probably benign	0.04
IGL02402:Cluh	APN	11	74,547,997 (GRCm39)	missense	probably damaging	1.00
IGL02620:Cluh	APN	11	74,555,893 (GRCm39)	nonsense	probably null
IGL02990:Cluh	APN	11	74,558,591 (GRCm39)	splice site	probably null
IGL03163:Cluh	APN	11	74,556,894 (GRCm39)	missense	probably benign	0.44
IGL03208:Cluh	APN	11	74,560,332 (GRCm39)	splice site	probably null
IGL03293:Cluh	APN	11	74,556,578 (GRCm39)	missense	probably benign	0.03
IGL03408:Cluh	APN	11	74,556,779 (GRCm39)	missense	probably benign	0.06
spent	UTSW	11	74,551,198 (GRCm39)	missense	probably damaging	1.00
FR4342:Cluh	UTSW	11	74,560,352 (GRCm39)	small insertion	probably benign
FR4342:Cluh	UTSW	11	74,560,350 (GRCm39)	small insertion	probably benign
FR4449:Cluh	UTSW	11	74,560,358 (GRCm39)	small insertion	probably benign
FR4589:Cluh	UTSW	11	74,560,357 (GRCm39)	small insertion	probably benign
FR4737:Cluh	UTSW	11	74,560,350 (GRCm39)	small insertion	probably benign
FR4737:Cluh	UTSW	11	74,560,345 (GRCm39)	small insertion	probably benign
FR4737:Cluh	UTSW	11	74,560,340 (GRCm39)	small insertion	probably benign
FR4737:Cluh	UTSW	11	74,560,359 (GRCm39)	small insertion	probably benign
FR4976:Cluh	UTSW	11	74,560,346 (GRCm39)	small insertion	probably benign
R0147:Cluh	UTSW	11	74,556,764 (GRCm39)	missense	probably damaging	1.00
R0153:Cluh	UTSW	11	74,548,176 (GRCm39)	splice site	probably benign
R0506:Cluh	UTSW	11	74,555,720 (GRCm39)	missense	probably benign	0.20
R0526:Cluh	UTSW	11	74,556,812 (GRCm39)	missense	probably benign	0.05
R0834:Cluh	UTSW	11	74,554,631 (GRCm39)	missense	probably benign	0.02
R1873:Cluh	UTSW	11	74,552,902 (GRCm39)	missense	possibly damaging	0.72
R1991:Cluh	UTSW	11	74,550,355 (GRCm39)	nonsense	probably null
R1992:Cluh	UTSW	11	74,550,828 (GRCm39)	missense	probably damaging	1.00
R2095:Cluh	UTSW	11	74,552,550 (GRCm39)	nonsense	probably null
R2101:Cluh	UTSW	11	74,551,328 (GRCm39)	splice site	probably benign
R2103:Cluh	UTSW	11	74,550,355 (GRCm39)	nonsense	probably null
R2220:Cluh	UTSW	11	74,557,947 (GRCm39)	missense	probably damaging	1.00
R3702:Cluh	UTSW	11	74,556,182 (GRCm39)	missense	probably benign
R3853:Cluh	UTSW	11	74,547,279 (GRCm39)	missense	probably benign	0.00
R3900:Cluh	UTSW	11	74,557,930 (GRCm39)	missense	probably benign	0.29
R4891:Cluh	UTSW	11	74,555,885 (GRCm39)	missense	possibly damaging	0.51
R4895:Cluh	UTSW	11	74,558,231 (GRCm39)	missense	probably damaging	1.00
R5056:Cluh	UTSW	11	74,552,772 (GRCm39)	missense	probably damaging	1.00
R5089:Cluh	UTSW	11	74,551,198 (GRCm39)	missense	probably damaging	1.00
R5217:Cluh	UTSW	11	74,550,531 (GRCm39)	missense	probably damaging	1.00
R5346:Cluh	UTSW	11	74,556,044 (GRCm39)	missense	probably damaging	1.00
R5382:Cluh	UTSW	11	74,555,935 (GRCm39)	intron	probably benign
R5516:Cluh	UTSW	11	74,551,270 (GRCm39)	missense	probably damaging	1.00
R5809:Cluh	UTSW	11	74,552,526 (GRCm39)	missense	probably damaging	1.00
R6146:Cluh	UTSW	11	74,558,054 (GRCm39)	splice site	probably null
R6326:Cluh	UTSW	11	74,557,068 (GRCm39)	missense	probably benign	0.10
R6541:Cluh	UTSW	11	74,548,040 (GRCm39)	missense	probably damaging	1.00
R6674:Cluh	UTSW	11	74,557,053 (GRCm39)	missense	probably damaging	1.00
R6870:Cluh	UTSW	11	74,556,210 (GRCm39)	missense	probably damaging	1.00
R6875:Cluh	UTSW	11	74,552,744 (GRCm39)	missense	probably damaging	1.00
R7086:Cluh	UTSW	11	74,558,166 (GRCm39)	missense	possibly damaging	0.46
R7225:Cluh	UTSW	11	74,557,232 (GRCm39)	splice site	probably null
R7310:Cluh	UTSW	11	74,560,285 (GRCm39)	missense	probably benign	0.10
R7317:Cluh	UTSW	11	74,556,530 (GRCm39)	missense	possibly damaging	0.90
R7674:Cluh	UTSW	11	74,558,546 (GRCm39)	missense	probably damaging	1.00
R7941:Cluh	UTSW	11	74,550,583 (GRCm39)	missense	probably benign	0.00
R9061:Cluh	UTSW	11	74,551,192 (GRCm39)	missense	possibly damaging	0.73
R9326:Cluh	UTSW	11	74,554,902 (GRCm39)	missense	probably benign	0.00
R9489:Cluh	UTSW	11	74,558,772 (GRCm39)	missense	possibly damaging	0.92
R9605:Cluh	UTSW	11	74,558,772 (GRCm39)	missense	possibly damaging	0.92
RF020:Cluh	UTSW	11	74,560,364 (GRCm39)	small insertion	probably benign
RF032:Cluh	UTSW	11	74,560,341 (GRCm39)	small insertion	probably benign
X0028:Cluh	UTSW	11	74,554,292 (GRCm39)	missense	probably benign	0.26
Z1177:Cluh	UTSW	11	74,558,580 (GRCm39)	missense	possibly damaging	0.82
Z1186:Cluh	UTSW	11	74,560,357 (GRCm39)	small insertion	probably benign
Z1186:Cluh	UTSW	11	74,560,343 (GRCm39)	small insertion	probably benign
Z1187:Cluh	UTSW	11	74,560,340 (GRCm39)	small insertion	probably benign
Z1187:Cluh	UTSW	11	74,560,342 (GRCm39)	small insertion	probably benign
Z1187:Cluh	UTSW	11	74,560,343 (GRCm39)	small insertion	probably benign
Z1187:Cluh	UTSW	11	74,560,346 (GRCm39)	small insertion	probably benign
Z1187:Cluh	UTSW	11	74,560,347 (GRCm39)	small insertion	probably benign
Z1187:Cluh	UTSW	11	74,560,350 (GRCm39)	small insertion	probably benign
Z1187:Cluh	UTSW	11	74,560,355 (GRCm39)	small insertion	probably benign
Z1188:Cluh	UTSW	11	74,560,343 (GRCm39)	small insertion	probably benign
Z1189:Cluh	UTSW	11	74,560,340 (GRCm39)	frame shift	probably null
Z1189:Cluh	UTSW	11	74,560,357 (GRCm39)	small insertion	probably benign
Z1189:Cluh	UTSW	11	74,560,356 (GRCm39)	nonsense	probably null
Z1189:Cluh	UTSW	11	74,560,355 (GRCm39)	small insertion	probably benign
Z1189:Cluh	UTSW	11	74,560,349 (GRCm39)	small insertion	probably benign
Z1189:Cluh	UTSW	11	74,560,345 (GRCm39)	small insertion	probably benign
Z1189:Cluh	UTSW	11	74,560,343 (GRCm39)	small insertion	probably benign
Z1190:Cluh	UTSW	11	74,560,356 (GRCm39)	small insertion	probably benign
Z1190:Cluh	UTSW	11	74,560,344 (GRCm39)	small insertion	probably benign
Z1190:Cluh	UTSW	11	74,560,343 (GRCm39)	small insertion	probably benign
Z1190:Cluh	UTSW	11	74,560,358 (GRCm39)	small insertion	probably benign
Z1191:Cluh	UTSW	11	74,560,349 (GRCm39)	small insertion	probably benign
Z1191:Cluh	UTSW	11	74,560,343 (GRCm39)	small insertion	probably benign
Z1191:Cluh	UTSW	11	74,560,340 (GRCm39)	small insertion	probably benign
Z1191:Cluh	UTSW	11	74,560,356 (GRCm39)	small insertion	probably benign
Z1191:Cluh	UTSW	11	74,560,352 (GRCm39)	small insertion	probably benign
Z1192:Cluh	UTSW	11	74,560,351 (GRCm39)	small insertion	probably benign
Z1192:Cluh	UTSW	11	74,560,343 (GRCm39)	small insertion	probably benign

Posted On

2011-07-12