Mutagenetix > Incidental Mutation

Incidental Mutation 'R3853:Cluh'

276021

Institutional Source

Beutler Lab

Gene Symbol

Cluh

Ensembl Gene

ENSMUSG00000020741

Gene Name

clustered mitochondria homolog

Synonyms

1300001I01Rik

MMRRC Submission

040900-MU

Accession Numbers

Essential gene?

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

Stock #

R3853 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74540321-74561673 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74547279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 44 (D44G)

Ref Sequence

ENSEMBL: ENSMUSP00000090593 (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: D44G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000090593
Gene: ENSMUSG00000020741
AA Change: D44G

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: D44G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113371
Gene: ENSMUSG00000020741
AA Change: D44G

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: ENSMUST00000130398

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155558

Meta Mutation Damage Score

0.0603

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.2%
20x: 94.4%

Validation Efficiency

96% (47/49)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,055,976 (GRCm39)	H316L	probably damaging	Het
Cadps	A	G	14: 12,509,090 (GRCm38)		probably benign	Het
Copb1	A	G	7: 113,822,551 (GRCm39)	V726A	probably damaging	Het
Dsg4	T	C	18: 20,582,291 (GRCm39)	V79A	probably benign	Het
Exo1	A	T	1: 175,720,554 (GRCm39)	I291F	probably benign	Het
Eya4	C	T	10: 22,992,574 (GRCm39)	A460T	probably damaging	Het
Gjd3	G	T	11: 102,690,952 (GRCm39)	D350E	probably benign	Het
Hcar2	T	C	5: 124,002,475 (GRCm39)	M343V	probably benign	Het
Ifna15	T	C	4: 88,476,046 (GRCm39)	Y146C	probably damaging	Het
Lce3e	C	T	3: 92,875,139 (GRCm39)	Q32*	probably null	Het
Llgl1	T	C	11: 60,598,075 (GRCm39)	L373P	probably damaging	Het
Mark2	A	G	19: 7,254,655 (GRCm39)	C642R	probably damaging	Het
Mbd3l2	A	G	9: 18,356,092 (GRCm39)	Q139R	probably benign	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Nynrin	T	A	14: 56,101,562 (GRCm39)	N410K	probably benign	Het
Or10g7	A	T	9: 39,905,450 (GRCm39)	T115S	probably damaging	Het
Or4a71	A	T	2: 89,357,917 (GRCm39)	M279K	possibly damaging	Het
Or5b112	A	G	19: 13,319,862 (GRCm39)	T247A	possibly damaging	Het
Or7a38	T	A	10: 78,752,781 (GRCm39)	Y36N	probably damaging	Het
Or8b1	G	T	9: 38,400,247 (GRCm39)	R307S	probably benign	Het
Padi3	T	C	4: 140,518,580 (GRCm39)		probably benign	Het
Prkce	A	G	17: 86,476,277 (GRCm39)	D86G	probably damaging	Het
Pwwp3b	C	T	X: 138,137,403 (GRCm39)		probably null	Het
Rad21	T	G	15: 51,835,712 (GRCm39)	I234L	probably benign	Het
Scn4a	A	T	11: 106,210,932 (GRCm39)	M1695K	possibly damaging	Het
Sdccag8	T	C	1: 176,681,361 (GRCm39)	S325P	probably damaging	Het
Sebox	G	A	11: 78,394,975 (GRCm39)	G106R	probably benign	Het
Serpinb9	A	G	13: 33,199,503 (GRCm39)	E266G	possibly damaging	Het
Shoc1	T	C	4: 59,047,390 (GRCm39)	N1410D	possibly damaging	Het
Snx14	T	C	9: 88,289,372 (GRCm39)		probably benign	Het
Tmc6	A	T	11: 117,663,884 (GRCm39)	L474*	probably null	Het
Tmem132c	T	C	5: 127,436,933 (GRCm39)	Y141H	probably benign	Het
Trap1	G	A	16: 3,872,686 (GRCm39)	R328C	possibly damaging	Het
Trim36	C	A	18: 46,305,439 (GRCm39)		probably benign	Het
Trmt2a	A	T	16: 18,069,055 (GRCm39)	Y299F	possibly damaging	Het
Trrap	A	G	5: 144,728,975 (GRCm39)	K630E	probably damaging	Het
Tsnaxip1	A	T	8: 106,567,333 (GRCm39)		probably benign	Het
Ttc6	G	T	12: 57,775,335 (GRCm39)	C1677F	possibly damaging	Het
Ugt2a3	A	T	5: 87,485,018 (GRCm39)	V2D		Het
Usp9x	A	G	X: 12,964,822 (GRCm39)	D77G	probably benign	Het
Wfs1	C	A	5: 37,125,968 (GRCm39)	V308L	probably benign	Het
Zan	A	C	5: 137,472,326 (GRCm39)	L140R	probably damaging	Het
Zc3h3	A	T	15: 75,709,346 (GRCm39)	S508T	probably benign	Het
Zswim3	A	G	2: 164,662,777 (GRCm39)	Y419C	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
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

Predicted Primers

PCR Primer
(F):5'- GAATCCTGACTGCTGTGGTGAG -3'
(R):5'- ATCTTACCTGCAGGGAAAAGGG -3'

Sequencing Primer
(F):5'- CTGCTGTGGTGAGGAACAG -3'
(R):5'- CAGGGAAAAGGGCTCGATGC -3'

Posted On

2015-04-06