Mutagenetix > Incidental Mutations

Incidental Mutation 'R2095:Cluh'

232063

Institutional Source

Beutler Lab

Gene Symbol

Cluh

Ensembl Gene

ENSMUSG00000020741

Gene Name

clustered mitochondria (cluA/CLU1) homolog

Synonyms

1300001I01Rik

MMRRC Submission

040099-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.319) question?

Stock #

R2095 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74649495-74670847 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 74661724 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 532 (R532*)

Ref Sequence

ENSEMBL: ENSMUSP00000113371 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000092915
AA Change: R532*

SMART Domains

Protein: ENSMUSP00000090593
Gene: ENSMUSG00000020741
AA Change: R532*

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 null
Transcript: ENSMUST00000117818
AA Change: R532*

SMART Domains

Protein: ENSMUSP00000113371
Gene: ENSMUSG00000020741
AA Change: R532*

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: ENSMUST00000155558

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

97% (58/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	C	A	4: 122,702,358	Y127*	probably null	Het
Adam33	C	T	2: 131,053,709	G562D	probably damaging	Het
Adh1	T	C	3: 138,282,796	F177L	probably damaging	Het
Arhgef17	T	C	7: 100,881,263	T1439A	probably damaging	Het
Arl5c	C	T	11: 97,993,451	E105K	probably damaging	Het
Armc3	T	A	2: 19,288,929	D510E	possibly damaging	Het
Bbx	T	C	16: 50,224,689	E395G	possibly damaging	Het
Cacna2d2	G	A	9: 107,527,165	E1087K	probably benign	Het
Casq1	T	C	1: 172,215,962	N113S	probably benign	Het
Cbfa2t3	A	G	8: 122,634,988	S432P	probably benign	Het
Cd163	A	G	6: 124,317,822	D615G	probably damaging	Het
Chrnb2	A	T	3: 89,761,437	D190E	probably benign	Het
Clec9a	T	C	6: 129,416,358	L115P	possibly damaging	Het
Cntnap5a	T	A	1: 116,442,260	L869Q	probably damaging	Het
Ctgf	T	C	10: 24,596,479	V140A	probably benign	Het
Cyp3a57	A	T	5: 145,369,134	K143*	probably null	Het
Dcaf12	G	T	4: 41,294,085	H351N	probably benign	Het
Dtna	T	A	18: 23,569,748	L112Q	probably damaging	Het
Fnta	G	A	8: 25,999,879	Q303*	probably null	Het
Frs2	T	C	10: 117,074,602	E285G	probably benign	Het
Gabra4	T	C	5: 71,624,112	I293V	probably damaging	Het
Gm2431	A	T	7: 142,257,781	C129S	unknown	Het
Gnl2	C	T	4: 125,034,318	R49C	probably damaging	Het
Helz	T	A	11: 107,646,146	Y275N	probably damaging	Het
Hydin	A	G	8: 110,462,657	E1231G	probably damaging	Het
Kctd11	T	A	11: 69,879,576	D212V	probably damaging	Het
Klf3	T	A	5: 64,821,902	M29K	probably benign	Het
Klhl21	T	C	4: 152,009,393	S151P	probably benign	Het
Lsm14b	A	T	2: 180,031,787		probably benign	Het
Mlxipl	T	C	5: 135,122,120		probably benign	Het
Mov10	G	A	3: 104,801,531	R389C	probably damaging	Het
Msh6	A	G	17: 87,988,233	M1071V	possibly damaging	Het
Myh8	G	T	11: 67,286,224	A401S	probably benign	Het
Ndufv3	T	C	17: 31,527,486	S117P	possibly damaging	Het
Obscn	A	T	11: 59,093,584		probably null	Het
Olfr1205	T	C	2: 88,831,290	Y58H	probably damaging	Het
Olfr150	T	A	9: 39,737,261	Y149N	probably damaging	Het
Olfr166	T	C	16: 19,486,931	I31T	probably benign	Het
Olfr381	T	A	11: 73,486,594	T77S	probably damaging	Het
Pcdhb17	T	A	18: 37,486,322	D388E	probably benign	Het
Pgm3	T	C	9: 86,556,341	T423A	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
S1pr5	T	A	9: 21,244,858	T91S	probably benign	Het
Sgcz	T	C	8: 37,540,392		probably benign	Het
Slc33a1	A	G	3: 63,963,955	L79P	probably damaging	Het
Slco2a1	A	G	9: 103,076,968	T383A	probably benign	Het
Slit1	G	A	19: 41,606,380	R1184W	probably damaging	Het
Spta1	T	A	1: 174,244,198	M2248K	possibly damaging	Het
Stub1	A	G	17: 25,830,890	Y304H	probably damaging	Het
Taar7e	T	A	10: 24,038,051	Y146*	probably null	Het
Tbc1d1	C	T	5: 64,316,501	S660L	probably benign	Het
Tcea2	C	A	2: 181,686,932	F259L	probably damaging	Het
Tcp11l1	T	A	2: 104,681,840	K482N	probably damaging	Het
Trpv6	C	T	6: 41,621,756	R645Q	probably damaging	Het
Uaca	T	A	9: 60,840,843	S30T	probably benign	Het
Ubap2	C	G	4: 41,206,901	V492L	possibly damaging	Het
Ube3c	T	C	5: 29,668,040	F1026S	probably damaging	Het
Vmn2r8	T	G	5: 108,808,621	D45A	possibly damaging	Het
Zfp738	G	T	13: 67,671,303	L180I	probably damaging	Het

Other mutations in Cluh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Cluh	APN	11	74664064	missense	probably benign	0.28
IGL00858:Cluh	APN	11	74659605	missense	possibly damaging	0.86
IGL01380:Cluh	APN	11	74665946	missense	probably benign	0.04
IGL02402:Cluh	APN	11	74657171	missense	probably damaging	1.00
IGL02620:Cluh	APN	11	74665067	nonsense	probably null
IGL02990:Cluh	APN	11	74667765	splice site	probably null
IGL03163:Cluh	APN	11	74666068	missense	probably benign	0.44
IGL03208:Cluh	APN	11	74669506	unclassified	probably null
IGL03293:Cluh	APN	11	74665752	missense	probably benign	0.03
IGL03408:Cluh	APN	11	74665953	missense	probably benign	0.06
spent	UTSW	11	74660372	missense	probably damaging	1.00
FR4342:Cluh	UTSW	11	74669524	small insertion	probably benign
FR4342:Cluh	UTSW	11	74669526	small insertion	probably benign
FR4449:Cluh	UTSW	11	74669532	small insertion	probably benign
FR4589:Cluh	UTSW	11	74669531	small insertion	probably benign
FR4737:Cluh	UTSW	11	74669514	small insertion	probably benign
FR4737:Cluh	UTSW	11	74669519	small insertion	probably benign
FR4737:Cluh	UTSW	11	74669524	small insertion	probably benign
FR4737:Cluh	UTSW	11	74669533	small insertion	probably benign
FR4976:Cluh	UTSW	11	74669520	small insertion	probably benign
R0147:Cluh	UTSW	11	74665938	missense	probably damaging	1.00
R0153:Cluh	UTSW	11	74657350	splice site	probably benign
R0506:Cluh	UTSW	11	74664894	missense	probably benign	0.20
R0526:Cluh	UTSW	11	74665986	missense	probably benign	0.05
R0834:Cluh	UTSW	11	74663805	missense	probably benign	0.02
R1873:Cluh	UTSW	11	74662076	missense	possibly damaging	0.72
R1991:Cluh	UTSW	11	74659529	nonsense	probably null
R1992:Cluh	UTSW	11	74660002	missense	probably damaging	1.00
R2101:Cluh	UTSW	11	74660502	splice site	probably benign
R2103:Cluh	UTSW	11	74659529	nonsense	probably null
R2220:Cluh	UTSW	11	74667121	missense	probably damaging	1.00
R3702:Cluh	UTSW	11	74665356	missense	probably benign
R3853:Cluh	UTSW	11	74656453	missense	probably benign	0.00
R3900:Cluh	UTSW	11	74667104	missense	probably benign	0.29
R4891:Cluh	UTSW	11	74665059	missense	possibly damaging	0.51
R4895:Cluh	UTSW	11	74667405	missense	probably damaging	1.00
R5056:Cluh	UTSW	11	74661946	missense	probably damaging	1.00
R5089:Cluh	UTSW	11	74660372	missense	probably damaging	1.00
R5217:Cluh	UTSW	11	74659705	missense	probably damaging	1.00
R5346:Cluh	UTSW	11	74665218	missense	probably damaging	1.00
R5382:Cluh	UTSW	11	74665109	intron	probably benign
R5516:Cluh	UTSW	11	74660444	missense	probably damaging	1.00
R5809:Cluh	UTSW	11	74661700	missense	probably damaging	1.00
R6146:Cluh	UTSW	11	74667228	splice site	probably null
R6326:Cluh	UTSW	11	74666242	missense	probably benign	0.10
R6541:Cluh	UTSW	11	74657214	missense	probably damaging	1.00
R6674:Cluh	UTSW	11	74666227	missense	probably damaging	1.00
R6870:Cluh	UTSW	11	74665384	missense	probably damaging	1.00
R6875:Cluh	UTSW	11	74661918	missense	probably damaging	1.00
R7086:Cluh	UTSW	11	74667340	missense	possibly damaging	0.46
R7225:Cluh	UTSW	11	74666406	intron	probably null
R7310:Cluh	UTSW	11	74669459	missense	probably benign	0.10
R7317:Cluh	UTSW	11	74665704	missense	possibly damaging	0.90
R7674:Cluh	UTSW	11	74667720	missense	probably damaging	1.00
RF020:Cluh	UTSW	11	74669538	small insertion	probably benign
RF032:Cluh	UTSW	11	74669515	small insertion	probably benign
X0028:Cluh	UTSW	11	74663466	missense	probably benign	0.26
Z1177:Cluh	UTSW	11	74667754	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- AACAACATCTTCTTCAGCCTGGG -3'
(R):5'- TGATGCCCTTACACTCGACC -3'

Sequencing Primer
(F):5'- TTTGATGTCCGGGACCACTACAAAG -3'
(R):5'- TTACACTCGACCGAGGAGCAG -3'

Posted On

2014-09-18