Mutagenetix > Incidental Mutation

Incidental Mutation 'R5382:Cluh'

424800

Institutional Source

Beutler Lab

Gene Symbol

Cluh

Ensembl Gene

ENSMUSG00000020741

Gene Name

clustered mitochondria homolog

Synonyms

1300001I01Rik

MMRRC Submission

042957-MU

Accession Numbers

Essential gene?

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

Stock #

R5382 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74540321-74561673 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 74555935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000090593
Gene: ENSMUSG00000020741

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

SMART Domains

Protein: ENSMUSP00000113371
Gene: ENSMUSG00000020741

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (59/59)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,314,844 (GRCm39)	P250S	possibly damaging	Het
Actn2	T	A	13: 12,323,837 (GRCm39)	M133L	probably benign	Het
Arhgap32	A	T	9: 32,063,306 (GRCm39)	K105M	probably damaging	Het
BC034090	A	G	1: 155,101,349 (GRCm39)	V305A	probably benign	Het
Brd1	G	A	15: 88,613,767 (GRCm39)	T376M	probably damaging	Het
Cbl	C	T	9: 44,070,318 (GRCm39)	A505T	probably benign	Het
Cga	G	T	4: 34,904,048 (GRCm39)	M14I	probably benign	Het
Ciao3	A	G	17: 25,995,894 (GRCm39)		probably benign	Het
Col14a1	A	T	15: 55,225,832 (GRCm39)	D165V	unknown	Het
Cp	T	C	3: 20,033,089 (GRCm39)	W639R	probably damaging	Het
Cyp7b1	T	A	3: 18,151,385 (GRCm39)	D276V	possibly damaging	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Ecpas	A	T	4: 58,850,934 (GRCm39)	M413K	probably benign	Het
Erc1	T	A	6: 119,738,233 (GRCm39)	M509L	probably benign	Het
Evi5l	A	G	8: 4,228,653 (GRCm39)		probably benign	Het
Exoc6	T	C	19: 37,587,127 (GRCm39)		probably null	Het
Gm38706	C	T	6: 130,460,744 (GRCm39)		noncoding transcript	Het
Gpr183	T	C	14: 122,192,333 (GRCm39)	T63A	possibly damaging	Het
Gpr63	T	A	4: 25,007,952 (GRCm39)	D225E	probably benign	Het
Grb14	T	A	2: 64,745,078 (GRCm39)	K93N	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kif28	C	T	1: 179,527,847 (GRCm39)	G768D	probably damaging	Het
Krt79	A	T	15: 101,839,875 (GRCm39)	D373E	probably benign	Het
Mro	G	A	18: 74,009,893 (GRCm39)	S187N	probably benign	Het
Ms4a14	G	T	19: 11,280,421 (GRCm39)	D712E	possibly damaging	Het
Ndufaf1	T	C	2: 119,490,893 (GRCm39)	T56A	possibly damaging	Het
Nell2	A	T	15: 95,127,091 (GRCm39)	D761E	probably damaging	Het
Numb	A	G	12: 83,854,979 (GRCm39)	F116L	probably damaging	Het
Or3a1	T	A	11: 74,225,806 (GRCm39)	M84L	probably benign	Het
Or4c114	A	G	2: 88,905,079 (GRCm39)	Y119H	probably damaging	Het
Or5an11	A	T	19: 12,245,773 (GRCm39)	M60L	possibly damaging	Het
Or6c66	T	A	10: 129,461,876 (GRCm39)	D18V	probably damaging	Het
Or8k27	A	G	2: 86,275,660 (GRCm39)	L222P	probably damaging	Het
Or9g20	T	C	2: 85,630,492 (GRCm39)	N41D	probably damaging	Het
Otog	A	C	7: 45,898,428 (GRCm39)	N182T	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Padi6	A	T	4: 140,458,521 (GRCm39)	V457E	probably damaging	Het
Pex16	G	A	2: 92,207,875 (GRCm39)	R109H	possibly damaging	Het
Phactr1	T	C	13: 43,288,695 (GRCm39)		probably benign	Het
Phf20	G	A	2: 156,109,417 (GRCm39)	E255K	probably damaging	Het
Pim1	A	G	17: 29,710,457 (GRCm39)		probably benign	Het
Prr23a2	T	A	9: 98,739,229 (GRCm39)	Y196N	probably damaging	Het
Prune2	A	T	19: 16,981,023 (GRCm39)	N60I	probably damaging	Het
Ptprb	T	A	10: 116,189,776 (GRCm39)	Y1812N	probably damaging	Het
Rab11fip4	A	G	11: 79,581,541 (GRCm39)	Y512C	possibly damaging	Het
Resf1	G	T	6: 149,227,958 (GRCm39)	E335*	probably null	Het
Rft1	T	C	14: 30,388,739 (GRCm39)	V221A	probably benign	Het
Tacr2	T	C	10: 62,097,276 (GRCm39)	M252T	probably damaging	Het
Tgfbrap1	A	G	1: 43,115,025 (GRCm39)	I25T	probably benign	Het
Th	A	G	7: 142,449,177 (GRCm39)	F191S	probably damaging	Het
Trim3	C	A	7: 105,267,554 (GRCm39)	R275L	probably benign	Het
Trpm3	A	G	19: 22,862,705 (GRCm39)		probably null	Het
Wars1	A	T	12: 108,848,706 (GRCm39)	D80E	probably benign	Het
Wdr90	T	A	17: 26,064,572 (GRCm39)	Y1806F	probably damaging	Het
Zfp644	A	T	5: 106,782,735 (GRCm39)	I1182N	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACCAGCTGGACCACATTTATGTG -3'
(R):5'- AGTGTTGTCTGCAGCTCCTG -3'

Sequencing Primer
(F):5'- ACATTTATGTGAGTGGGGCTTG -3'
(R):5'- TTCTTGGAGAGCAGCTCATCAGC -3'

Posted On

2016-08-04