Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03293:Cluh'

415979

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: 0.205) question?

Stock #

IGL03293

Quality Score

Status

Chromosome

Chromosomal Location

74540321-74561673 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74556578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 921 (E921G)

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: E972G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000090593
Gene: ENSMUSG00000020741
AA Change: E972G

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: E921G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113371
Gene: ENSMUSG00000020741
AA Change: E921G

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	A	1: 11,615,375 (GRCm39)		probably null	Het
Akr1c14	C	T	13: 4,129,130 (GRCm39)	R45*	probably null	Het
Ccdc62	T	A	5: 124,089,288 (GRCm39)	L309I	possibly damaging	Het
Ccdc66	T	A	14: 27,212,628 (GRCm39)	N565I	probably damaging	Het
Cerkl	G	T	2: 79,172,719 (GRCm39)	A318E	probably damaging	Het
Clec4n	A	T	6: 123,209,105 (GRCm39)	T57S	probably benign	Het
Cnbd1	C	T	4: 18,860,565 (GRCm39)	E394K	possibly damaging	Het
Dmgdh	G	T	13: 93,843,209 (GRCm39)	M348I	probably benign	Het
Dnajc13	G	A	9: 104,051,625 (GRCm39)	S1744L	possibly damaging	Het
Dspp	A	T	5: 104,325,427 (GRCm39)	S597C	unknown	Het
Dync1h1	A	T	12: 110,595,168 (GRCm39)	N1360I	probably benign	Het
Eepd1	A	G	9: 25,514,708 (GRCm39)	H505R	possibly damaging	Het
Entr1	A	T	2: 26,277,688 (GRCm39)		probably benign	Het
Gcnt7	T	C	2: 172,296,303 (GRCm39)	T174A	possibly damaging	Het
Gnb1	T	C	4: 155,625,004 (GRCm39)		probably benign	Het
Gpam	A	G	19: 55,059,448 (GRCm39)	S800P	probably benign	Het
Gsr	T	C	8: 34,185,024 (GRCm39)		probably benign	Het
Herc2	A	G	7: 55,804,878 (GRCm39)	K2302R	probably benign	Het
Hipk1	C	A	3: 103,684,575 (GRCm39)	A347S	possibly damaging	Het
Iqgap2	T	C	13: 95,867,942 (GRCm39)	N222S	probably damaging	Het
Marco	T	A	1: 120,422,524 (GRCm39)	M46L	probably benign	Het
Morc2b	A	T	17: 33,357,337 (GRCm39)	V145D	probably damaging	Het
Mprip	C	A	11: 59,586,989 (GRCm39)	P54Q	probably damaging	Het
Ndufv2	A	T	17: 66,390,444 (GRCm39)	C175*	probably null	Het
Or13c25	A	G	4: 52,910,835 (GRCm39)	*320Q	probably null	Het
Or4p20	T	C	2: 88,253,571 (GRCm39)	D266G	probably damaging	Het
Orc3	A	C	4: 34,595,210 (GRCm39)	I195S	probably damaging	Het
Otos	C	A	1: 92,572,135 (GRCm39)	E64*	probably null	Het
Plxna2	T	C	1: 194,487,253 (GRCm39)	S1603P	probably damaging	Het
Rlf	A	T	4: 121,005,527 (GRCm39)	I1151N	probably benign	Het
Scaper	A	G	9: 55,782,107 (GRCm39)	V283A	probably benign	Het
Slc25a43	A	G	X: 36,039,252 (GRCm39)	T270A	probably benign	Het
Slc35a5	A	G	16: 44,964,144 (GRCm39)	V78A	probably damaging	Het
Smurf1	A	T	5: 144,818,609 (GRCm39)	D636E	probably benign	Het
Tchhl1	A	T	3: 93,377,582 (GRCm39)	E95D	probably damaging	Het
Tcp10a	A	G	17: 7,593,891 (GRCm39)	E72G	possibly damaging	Het
Tmem232	A	G	17: 65,757,369 (GRCm39)	S275P	probably damaging	Het
Ugt1a5	T	C	1: 88,094,540 (GRCm39)	F256S	probably damaging	Het
Ulbp3	A	G	10: 3,075,699 (GRCm39)		noncoding transcript	Het
Vmn2r5	A	G	3: 64,398,747 (GRCm39)	V744A	probably benign	Het
Vmn2r53	A	T	7: 12,332,349 (GRCm39)	S433R	probably benign	Het
Vmn2r9	A	T	5: 108,995,997 (GRCm39)	I217N	probably damaging	Het
Wdr83	G	T	8: 85,807,216 (GRCm39)	A10E	probably benign	Het

Other mutations in Cluh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Cluh	APN	11	74,554,890 (GRCm39)	missense	probably benign	0.28
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
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

2016-08-02