Mutagenetix > Incidental Mutation

Incidental Mutation 'RF032:Cluh'

604420

Institutional Source

Beutler Lab

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 #

RF032 (G1)

Quality Score

218.659

Status

Not validated

Chromosome

Chromosomal Location

74540321-74561673 bp(+) (GRCm39)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

CCCGAGCC to CCCGAGCCCGAGCC at 74560341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113371 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
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

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: 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

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.4%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	TACCT	TACCTGACCT	17: 24,506,701 (GRCm39)		probably null	Het
Acap3	CTGCTG	CTGCTGCATCCTGGGATGCTG	4: 155,989,559 (GRCm39)		probably benign	Het
Arid1b	GCG	GCGTCG	17: 5,045,863 (GRCm39)		probably benign	Het
Blm	CTCC	CTCCTCCTCCTCGTCC	7: 80,162,678 (GRCm39)		probably benign	Het
Cacna1f	GAG	GAGTAG	X: 7,486,302 (GRCm39)		probably null	Het
Calhm1	C	CTGTGGCCGTGG	19: 47,129,722 (GRCm39)		probably null	Het
Cyb5r4	ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACTGCCCAGGGATGTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 86,922,466 (GRCm39)		probably benign	Het
Dmkn	GT	GTTGTGAAAGTGGTGGAAGTGGTGGAATT	7: 30,466,607 (GRCm39)		probably benign	Het
Efhd2	CGCC	CGCCGCAGCC	4: 141,602,083 (GRCm39)		probably benign	Het
Enah	TGGCGGTGG	TG	1: 181,749,494 (GRCm39)		probably null	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,489,142 (GRCm39)		probably benign	Het
H2-T10	TTTCCCACTGTA	T	17: 36,431,186 (GRCm39)		probably null	Het
Ifi207	GCCTGAGCTGTGGAAGTCTCCCCCTGAGCTGTGGAAGTCTC	GCCTGAGCTGTGGAAGTCTC	1: 173,562,723 (GRCm39)		probably benign	Het
Igf1r	GATGGAGC	GATGGAGCTGGATATGGAGC	7: 67,875,927 (GRCm39)		probably benign	Het
Krtap28-10	AGCCACAGCCACCACAGCCACAGCCACCAC	AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC	1: 83,019,979 (GRCm39)		probably benign	Het
Lmx1b	TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA	TACATCTTGATGCCGTCCA	2: 33,530,501 (GRCm39)		probably null	Het
Med12l	CAG	CAGAAG	3: 59,183,402 (GRCm39)		probably benign	Het
Med12l	GCA	GCACCA	3: 59,183,410 (GRCm39)		probably benign	Het
Med12l	AGC	AGCGGC	3: 59,183,406 (GRCm39)		probably benign	Het
Mn1	CAG	CAGAAG	5: 111,567,577 (GRCm39)		probably benign	Het
Nf2	AAAAG	A	11: 4,779,936 (GRCm39)		probably null	Het
Nusap1	TTAGCAGTGAGGAGCAAGCTGAGA	TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA	2: 119,458,068 (GRCm39)		probably benign	Het
Or10j2	GTGACATC	G	1: 173,098,276 (GRCm39)		probably null	Het
Padi3	TCTCAC	TC	4: 140,520,283 (GRCm39)		probably benign	Het
Pik3c2g	G	GGAGA	6: 139,612,656 (GRCm39)		probably null	Het
Pou3f1	GGCGGCCG	GGCGGCCGCGGCCG	4: 124,551,598 (GRCm39)		probably benign	Het
Rassf6	ATTC	ATTCTGCCTCACTCATGGTCCTGTAGAGCAATGGGGCTTC	5: 90,756,798 (GRCm39)		probably benign	Het
Reep1	CC	CCCGAC	6: 71,684,952 (GRCm39)		probably null	Het
Slc12a1	ACAAACC	ACAAACCTTTGGCCACCAAACC	2: 124,996,130 (GRCm39)		probably benign	Het
Smpx	CCCCCCA	C	X: 156,503,919 (GRCm39)		probably benign	Het
Spaca1	TCGC	TCGCTCACGC	4: 34,049,854 (GRCm39)		probably benign	Het
Supt20	GCAGCA	GCAGCACCAGCA	3: 54,635,087 (GRCm39)		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT	6: 72,593,046 (GRCm39)		probably benign	Het
Tgoln1	T	TCACCTCCCGTGGGCTTGCCAGAAG	6: 72,593,057 (GRCm39)		probably benign	Het
Triobp	CCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG	CCCCAGGACTCCCTGTGCCCAACGGAACAATCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG	15: 78,851,236 (GRCm39)		probably benign	Het
Vat1l	C	T	8: 115,016,069 (GRCm39)	L320F	probably damaging	Het
Zfhx3	CAGCAACAG	CAGCAACAGAAGCAACAG	8: 109,682,724 (GRCm39)		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
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
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'- TCAGGTGTAGTCAGCACTCC -3'
(R):5'- CCCCAGAATTCTCCTGGAATCTG -3'

Sequencing Primer
(F):5'- AGGAGTGCCCGTTCATACATC -3'
(R):5'- AATCTGTCTGCATCGCCGG -3'

Posted On

2019-12-04