Mutagenetix > Incidental Mutations

Incidental Mutation 'R5217:Cluh'

403554

Institutional Source

Beutler Lab

Gene Symbol

Cluh

Ensembl Gene

ENSMUSG00000020741

Gene Name

clustered mitochondria (cluA/CLU1) homolog

Synonyms

1300001I01Rik

MMRRC Submission

042790-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.241) question?

Stock #

R5217 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74649495-74670847 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 74659705 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 252 (C252W)

Ref Sequence

ENSEMBL: ENSMUSP00000113371 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000092915
AA Change: C252W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090593
Gene: ENSMUSG00000020741
AA Change: C252W

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 damaging
Transcript: ENSMUST00000117818
AA Change: C252W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113371
Gene: ENSMUSG00000020741
AA Change: C252W

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

100% (80/80)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410141K09Rik	A	T	13: 66,433,726	L28H	probably damaging	Het
4933428M09Rik	G	T	X: 139,179,533	G16*	probably null	Het
Abhd11	T	A	5: 135,011,544	W144R	probably damaging	Het
Abhd2	A	G	7: 79,323,630	E119G	probably benign	Het
Acbd3	A	G	1: 180,726,373	Y91C	probably benign	Het
Aox4	C	A	1: 58,246,241	S628*	probably null	Het
Bahcc1	T	A	11: 120,274,459	Y905*	probably null	Het
Baiap2l2	T	G	15: 79,270,487	S211R	probably benign	Het
C77080	C	T	4: 129,222,685	E729K	probably damaging	Het
Cab39l	T	A	14: 59,526,809	Y206*	probably null	Het
Cacna1i	A	T	15: 80,390,840	T1830S	possibly damaging	Het
Catsperg1	A	T	7: 29,190,298	L793*	probably null	Het
Cdh10	G	T	15: 18,966,022	V198F	probably damaging	Het
Cenpk	A	T	13: 104,249,409	I271F	probably damaging	Het
Chchd4	A	T	6: 91,465,278	C53S	probably damaging	Het
Cmklr1	G	T	5: 113,614,649	A97E	probably damaging	Het
Coil	C	A	11: 88,981,161	A116D	possibly damaging	Het
F830045P16Rik	C	A	2: 129,463,573	V294F	probably damaging	Het
Fgd6	T	A	10: 94,134,077	M1196K	possibly damaging	Het
Gabra5	G	A	7: 57,490,856	S31L	probably benign	Het
Gm10264	A	G	12: 88,329,426	H58R	probably benign	Het
Gm7135	A	T	1: 97,435,065		noncoding transcript	Het
Gon4l	C	A	3: 88,887,575	T695K	probably damaging	Het
Hectd4	A	G	5: 121,353,551	H3684R	possibly damaging	Het
Ica1l	T	A	1: 60,015,758	M105L	probably benign	Het
Igkv8-24	A	T	6: 70,217,402	V7D	probably damaging	Het
Klf10	G	A	15: 38,296,087	R420W	probably damaging	Het
Klrc2	C	A	6: 129,656,880	W177C	probably damaging	Het
Krit1	T	A	5: 3,806,451	C15*	probably null	Het
Lamc1	C	A	1: 153,227,696	V1375L	probably damaging	Het
Lrrc37a	C	T	11: 103,456,954	V2972I	unknown	Het
Mapkapk5	T	C	5: 121,534,429	D13G	probably damaging	Het
Mcph1	T	A	8: 18,788,473	L804I	probably damaging	Het
Mdn1	C	T	4: 32,723,690	P2542L	probably damaging	Het
Mrto4	A	G	4: 139,348,459	Y119H	probably benign	Het
Nbeal2	G	T	9: 110,632,090	A1635E	possibly damaging	Het
Ndc1	T	C	4: 107,389,576	S399P	probably benign	Het
Ndufv2	A	G	17: 66,087,429	I147T	probably damaging	Het
Neb	C	A	2: 52,162,130	E382*	probably null	Het
Nme8	T	A	13: 19,696,691	I32F	probably damaging	Het
Obox5	T	A	7: 15,757,868		probably null	Het
Olfr937	A	G	9: 39,059,769	V299A	probably benign	Het
Pcdhb19	A	T	18: 37,497,886	M245L	probably benign	Het
Pex5l	A	T	3: 33,007,328		probably null	Het
Phrf1	T	G	7: 141,260,703	D1270E	probably damaging	Het
Pik3r5	A	G	11: 68,491,964	K277E	possibly damaging	Het
Ppan	T	C	9: 20,890,925	V204A	possibly damaging	Het
Ppp1r9a	A	T	6: 5,115,367	N830I	probably damaging	Het
Pxn	C	G	5: 115,544,915	A92G	probably benign	Het
Qsox1	A	G	1: 155,790,996	V249A	probably benign	Het
Rgl3	T	A	9: 21,987,648	*88C	probably null	Het
Rps6kc1	A	T	1: 190,783,605	W975R	probably damaging	Het
Sash1	G	T	10: 8,780,604	A208D	possibly damaging	Het
Simc1	A	T	13: 54,539,896		probably benign	Het
Sox7	T	C	14: 63,948,000	Y162H	probably damaging	Het
Srp72	T	A	5: 76,980,528	L171H	probably damaging	Het
Stab1	T	A	14: 31,159,519	Y577F	probably benign	Het
Stam2	G	A	2: 52,736,293		probably benign	Het
Tagln	T	C	9: 45,930,879	T139A	probably benign	Het
Thbs3	T	C	3: 89,223,164		probably null	Het
Tmem216	G	A	19: 10,551,791	T131M	possibly damaging	Het
Tmprss11c	A	G	5: 86,256,390	V142A	probably benign	Het
Ttc30a1	A	G	2: 75,980,803	L312P	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Tusc5	C	G	11: 76,694,276	A164G	possibly damaging	Het
Ubtf	T	C	11: 102,308,302	M511V	probably null	Het
Ugt2b36	A	T	5: 87,066,255	V510E	probably damaging	Het
Vars2	G	C	17: 35,658,149	P887A	probably damaging	Het
Vmn2r80	A	G	10: 79,169,146	M206V	possibly damaging	Het
Zbtb5	A	G	4: 44,993,990	F465L	probably benign	Het
Zfp119a	G	A	17: 55,865,425	Q473*	probably null	Het
Zfp607a	T	G	7: 27,877,844	I113R	probably damaging	Het
Zmym6	C	A	4: 127,105,374	N450K	possibly 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	splice site	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
R2095:Cluh	UTSW	11	74661724	nonsense	probably null
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
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	splice site	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
R7941:Cluh	UTSW	11	74659757	missense	probably benign	0.00
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'- CACCTGAGTATATCCTGCCG -3'
(R):5'- TCACAAAGCAGGTGCCGTAAG -3'

Sequencing Primer
(F):5'- AGTATATCCTGCCGGGGAG -3'
(R):5'- TTTGTCATTAGACTCAGAACACGGGG -3'

Posted On

2016-07-22