Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00858:Cluh'

8415

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 #

IGL00858

Quality Score

Status

Chromosome

Chromosomal Location

74540321-74561673 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74550431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 248 (K248E)

Ref Sequence

ENSEMBL: ENSMUSP00000113371 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092915
AA Change: K248E

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000090593
Gene: ENSMUSG00000020741
AA Change: K248E

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

possibly damaging
Transcript: ENSMUST00000117818
AA Change: K248E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113371
Gene: ENSMUSG00000020741
AA Change: K248E

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: ENSMUST00000127679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128155

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130398

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 121,967,537 (GRCm39)	V988M	probably damaging	Het
Afap1l1	G	A	18: 61,869,925 (GRCm39)	T635M	probably benign	Het
B4galnt1	A	G	10: 127,003,633 (GRCm39)	T199A	probably benign	Het
Ccdc183	T	A	2: 25,499,783 (GRCm39)	M378L	probably benign	Het
Ccser1	C	A	6: 61,787,649 (GRCm39)	S134*	probably null	Het
Cpa6	T	A	1: 10,554,219 (GRCm39)	R129S	probably damaging	Het
Cyp2c29	T	A	19: 39,296,100 (GRCm39)	V138D	probably damaging	Het
Cyp4f14	A	G	17: 33,130,692 (GRCm39)		probably benign	Het
Dock10	T	C	1: 80,545,720 (GRCm39)	N841S	possibly damaging	Het
Dtwd2	A	T	18: 49,861,452 (GRCm39)	I98N	probably damaging	Het
Fut10	G	T	8: 31,725,733 (GRCm39)	V163F	probably damaging	Het
Ifi44	T	A	3: 151,455,217 (GRCm39)	M3L	probably benign	Het
Mtch1	C	T	17: 29,559,430 (GRCm39)	D74N	probably damaging	Het
Nav3	A	G	10: 109,578,493 (GRCm39)	V1588A	probably damaging	Het
Pbk	T	C	14: 66,049,373 (GRCm39)		probably benign	Het
Ptcd1	A	T	5: 145,088,092 (GRCm39)		probably benign	Het
Rapgef4	A	T	2: 72,029,241 (GRCm39)	I438F	probably damaging	Het
Tas2r113	C	A	6: 132,870,115 (GRCm39)	R48S	probably benign	Het
Tektl1	T	C	10: 78,586,403 (GRCm39)	D216G	probably damaging	Het
Tnn	C	T	1: 159,915,962 (GRCm39)		probably null	Het
Tnnt2	G	A	1: 135,779,440 (GRCm39)	V277I	probably damaging	Het
Twnk	G	T	19: 44,996,065 (GRCm39)	W166L	probably benign	Het
Utp20	G	A	10: 88,644,987 (GRCm39)	L580F	possibly damaging	Het
Utp20	T	A	10: 88,645,000 (GRCm39)	E575D	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
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

2012-12-06