Mutagenetix > Incidental Mutations

Incidental Mutation 'R9326:Cluh'

706538

Institutional Source

Beutler Lab

Gene Symbol

Cluh

Ensembl Gene

ENSMUSG00000020741

Gene Name

clustered mitochondria (cluA/CLU1) homolog

Synonyms

1300001I01Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R9326 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74649495-74670847 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74664076 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 780 (K780R)

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: K780R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000090593
Gene: ENSMUSG00000020741
AA Change: K780R

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: K780R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000113371
Gene: ENSMUSG00000020741
AA Change: K780R

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013F07Rik	C	T	3: 108,544,615	R159W	probably damaging	Het
2310057J18Rik	A	T	10: 28,973,886	Y230*	probably null	Het
Adamts14	A	G	10: 61,200,459	S1015P	probably benign	Het
Adamts8	A	G	9: 30,943,590	T252A	probably benign	Het
Adamtsl1	T	A	4: 86,232,567	S149T	possibly damaging	Het
Afp	A	G	5: 90,504,346	K399E	probably damaging	Het
Atp8b1	T	A	18: 64,573,273	S222C	probably damaging	Het
C330027C09Rik	G	A	16: 49,013,872		probably null	Het
Ccdc88c	C	A	12: 101,028,850		probably benign	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 115,012,431		probably benign	Het
Cope	C	A	8: 70,302,866	F20L	possibly damaging	Het
Cps1	G	T	1: 67,209,636	R1174L	probably damaging	Het
Csmd1	G	A	8: 15,999,803	T2271I	probably benign	Het
Ctbp2	A	G	7: 133,014,630	I192T	probably benign	Het
Dcun1d4	A	G	5: 73,522,675	T106A	probably benign	Het
Ddb2	A	T	2: 91,217,214	M240K	probably benign	Het
Ddx20	A	T	3: 105,684,419	V145D	probably damaging	Het
Ddx31	A	G	2: 28,858,996	D268G	probably damaging	Het
Drc7	A	G	8: 95,075,258	I716V	probably benign	Het
Epb41l4a	G	T	18: 33,828,208	Y424*	probably null	Het
Exog	A	G	9: 119,462,488	N277S	probably damaging	Het
Fzd7	T	C	1: 59,483,678	L240P	possibly damaging	Het
Gpr87	T	C	3: 59,179,188	T299A	probably damaging	Het
Hecw2	A	G	1: 54,040,210	Y95H	probably damaging	Het
Idh1	T	C	1: 65,166,257	Y183C	probably damaging	Het
Ighv14-4	T	A	12: 114,176,849	I7F	possibly damaging	Het
Il1rap	A	T	16: 26,676,891	I83F	probably damaging	Het
Jag1	A	G	2: 137,089,825	S609P	probably benign	Het
Klhl33	T	C	14: 50,897,158	E9G	possibly damaging	Het
Lama2	A	G	10: 27,030,197	F2421L	probably benign	Het
Lmod2	A	T	6: 24,598,000	I40F	probably damaging	Het
Lsm5	A	T	6: 56,704,631	L13Q	possibly damaging	Het
Man2c1	G	T	9: 57,135,620	C258F	probably damaging	Het
Mgst1	T	C	6: 138,143,025	S28P	probably benign	Het
Msh3	A	T	13: 92,263,799	V744E	probably benign	Het
Mtx2	C	T	2: 74,825,943		probably benign	Het
N4bp3	C	T	11: 51,644,486	R292H	probably benign	Het
Neto2	A	T	8: 85,642,434	W354R	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nos1	G	C	5: 117,879,337	R255P	probably benign	Het
Nup98	C	A	7: 102,138,830	R1011L	probably benign	Het
Nutm1	A	T	2: 112,248,347	S1074R	possibly damaging	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Olfr1110	T	C	2: 87,136,303	H6R	probably benign	Het
Olfr1118	T	A	2: 87,309,386	M219K	probably benign	Het
Olfr281	T	C	15: 98,457,054	V248A	probably damaging	Het
Olfr847	A	T	9: 19,375,050	M277K	probably damaging	Het
Pi4kb	T	A	3: 94,993,195		probably null	Het
Rgsl1	C	T	1: 153,804,022	D103N	probably benign	Het
Rrbp1	G	A	2: 143,964,824	T958M	probably damaging	Het
S100a13	G	T	3: 90,515,863	D54Y	unknown	Het
Setd2	T	C	9: 110,549,603	C829R	probably benign	Het
Snd1	A	T	6: 28,795,843	R562*	probably null	Het
Snx27	A	T	3: 94,502,062	Y526N	probably damaging	Het
Stab2	A	G	10: 86,955,146	L483P	probably damaging	Het
Sybu	A	G	15: 44,673,623	S436P	probably damaging	Het
Thy1	A	G	9: 44,046,686	D37G	probably damaging	Het
Tmed8	A	T	12: 87,174,621	I126N	probably damaging	Het
Tmem161b	T	A	13: 84,292,483	L340*	probably null	Het
Tpr	C	T	1: 150,425,656	A1331V	possibly damaging	Het
Tprg	G	A	16: 25,317,357	E33K	probably benign	Het
Vps26b	T	C	9: 27,019,331	N123D	probably damaging	Het
Wdr7	G	A	18: 63,739,189	S398N	probably benign	Het
Zbtb48	T	C	4: 152,027,052	D2G	probably damaging	Het
Zfp975	G	A	7: 42,662,413	R259*	probably null	Het
Zfp986	T	A	4: 145,899,881	H370Q	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	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
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	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
R9061:Cluh	UTSW	11	74660366	missense	possibly damaging	0.73
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
Z1186:Cluh	UTSW	11	74669517	small insertion	probably benign
Z1186:Cluh	UTSW	11	74669531	small insertion	probably benign
Z1187:Cluh	UTSW	11	74669514	small insertion	probably benign
Z1187:Cluh	UTSW	11	74669516	small insertion	probably benign
Z1187:Cluh	UTSW	11	74669517	small insertion	probably benign
Z1187:Cluh	UTSW	11	74669520	small insertion	probably benign
Z1187:Cluh	UTSW	11	74669521	small insertion	probably benign
Z1187:Cluh	UTSW	11	74669524	small insertion	probably benign
Z1187:Cluh	UTSW	11	74669529	small insertion	probably benign
Z1188:Cluh	UTSW	11	74669517	small insertion	probably benign
Z1189:Cluh	UTSW	11	74669514	frame shift	probably null
Z1189:Cluh	UTSW	11	74669517	small insertion	probably benign
Z1189:Cluh	UTSW	11	74669519	small insertion	probably benign
Z1189:Cluh	UTSW	11	74669523	small insertion	probably benign
Z1189:Cluh	UTSW	11	74669529	small insertion	probably benign
Z1189:Cluh	UTSW	11	74669530	nonsense	probably null
Z1189:Cluh	UTSW	11	74669531	small insertion	probably benign
Z1190:Cluh	UTSW	11	74669517	small insertion	probably benign
Z1190:Cluh	UTSW	11	74669518	small insertion	probably benign
Z1190:Cluh	UTSW	11	74669530	small insertion	probably benign
Z1190:Cluh	UTSW	11	74669532	small insertion	probably benign
Z1191:Cluh	UTSW	11	74669514	small insertion	probably benign
Z1191:Cluh	UTSW	11	74669517	small insertion	probably benign
Z1191:Cluh	UTSW	11	74669523	small insertion	probably benign
Z1191:Cluh	UTSW	11	74669526	small insertion	probably benign
Z1191:Cluh	UTSW	11	74669530	small insertion	probably benign
Z1192:Cluh	UTSW	11	74669517	small insertion	probably benign
Z1192:Cluh	UTSW	11	74669525	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- CTCCCCAGGCAAGTAAGAATG -3'
(R):5'- CTTTGACTTATTGGGCACTGC -3'

Sequencing Primer
(F):5'- TGGATAATCAGTGAGTGAACCCTGC -3'
(R):5'- CAGTGTGCCAGGCTAGGAG -3'

Posted On

2022-04-18