Incidental Mutation 'R5809:Cluh'
ID 448927
Institutional Source Beutler Lab
Gene Symbol Cluh
Ensembl Gene ENSMUSG00000020741
Gene Name clustered mitochondria homolog
Synonyms 1300001I01Rik
MMRRC Submission 043394-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R5809 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 74540321-74561673 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74552526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 524 (S524P)
Ref Sequence ENSEMBL: ENSMUSP00000113371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092915] [ENSMUST00000117818]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000092915
AA Change: S524P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090593
Gene: ENSMUSG00000020741
AA Change: S524P

DomainStartEndE-ValueType
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: S524P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113371
Gene: ENSMUSG00000020741
AA Change: S524P

DomainStartEndE-ValueType
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 0.8556 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 99% (77/78)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik A G 8: 12,329,556 (GRCm39) S4G unknown Het
AA623943 T C 11: 94,703,828 (GRCm39) noncoding transcript Het
Abca13 T A 11: 9,243,692 (GRCm39) S1852T probably damaging Het
Ackr2 G A 9: 121,738,540 (GRCm39) C305Y probably damaging Het
Aebp1 T C 11: 5,820,257 (GRCm39) V411A probably benign Het
Akp3 G A 1: 87,054,270 (GRCm39) R269H probably benign Het
Alox15 C A 11: 70,241,708 (GRCm39) G58W probably damaging Het
Ankle2 A G 5: 110,385,856 (GRCm39) N369S probably damaging Het
Ankrd28 T A 14: 31,465,311 (GRCm39) I289L probably benign Het
Atp13a4 T A 16: 29,252,805 (GRCm39) T714S possibly damaging Het
Birc6 A C 17: 74,977,369 (GRCm39) N4388T probably damaging Het
Blm A T 7: 80,114,592 (GRCm39) L1159Q probably damaging Het
Caskin1 G A 17: 24,723,521 (GRCm39) V770I probably benign Het
Ccdc148 T A 2: 58,713,657 (GRCm39) H498L probably damaging Het
Cdh26 T A 2: 178,101,919 (GRCm39) Y179* probably null Het
Cela2a T A 4: 141,552,864 (GRCm39) T38S probably benign Het
Cep350 A T 1: 155,809,087 (GRCm39) N496K probably damaging Het
Cep89 A G 7: 35,117,151 (GRCm39) Y251C probably damaging Het
Cpeb4 T C 11: 31,822,801 (GRCm39) S172P probably damaging Het
Ctnnd2 T C 15: 30,847,523 (GRCm39) S705P probably damaging Het
Dock2 T G 11: 34,212,445 (GRCm39) D1232A probably benign Het
Donson T C 16: 91,484,738 (GRCm39) N9S possibly damaging Het
Gdf9 T C 11: 53,324,381 (GRCm39) L50P probably benign Het
Gm10300 C T 4: 131,802,458 (GRCm39) probably benign Het
Gm8369 A G 19: 11,482,248 (GRCm39) probably benign Het
Gm8674 T A 13: 50,055,924 (GRCm39) noncoding transcript Het
Hepacam T A 9: 37,296,101 (GRCm39) S417R possibly damaging Het
Hibch T A 1: 52,892,859 (GRCm39) L23Q probably benign Het
Hmcn1 G A 1: 150,525,358 (GRCm39) R3389C probably damaging Het
Hsp90ab1 G T 17: 45,881,575 (GRCm39) probably benign Het
Hunk C A 16: 90,272,791 (GRCm39) T365K probably damaging Het
Il12a A T 3: 68,602,595 (GRCm39) probably benign Het
Ints13 A G 6: 146,477,847 (GRCm39) V34A probably benign Het
Intu A C 3: 40,634,020 (GRCm39) M418L probably damaging Het
Khdc4 A G 3: 88,616,192 (GRCm39) R460G probably damaging Het
Klra9 A G 6: 130,156,036 (GRCm39) S240P probably damaging Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Ndrg1 A G 15: 66,802,699 (GRCm39) probably benign Het
Or11g24 T C 14: 50,662,905 (GRCm39) *310Q probably null Het
Or5k17 T C 16: 58,746,860 (GRCm39) T25A probably benign Het
Pate6 C T 9: 35,700,297 (GRCm39) C96Y probably damaging Het
Pax7 A G 4: 139,557,682 (GRCm39) S30P probably damaging Het
Pdcd11 A T 19: 47,082,247 (GRCm39) T54S probably benign Het
Pex19 T C 1: 171,958,306 (GRCm39) V95A probably damaging Het
Pkhd1l1 A G 15: 44,383,103 (GRCm39) I1121V probably benign Het
Pklr A T 3: 89,049,091 (GRCm39) I146F probably benign Het
Plcb1 T C 2: 135,104,164 (GRCm39) Y278H possibly damaging Het
Plcl1 T A 1: 55,735,160 (GRCm39) I167N probably damaging Het
Plekhh1 A T 12: 79,125,461 (GRCm39) I1241F probably benign Het
Plxnb2 G T 15: 89,051,774 (GRCm39) D148E possibly damaging Het
Pthlh T C 6: 147,158,745 (GRCm39) I72V probably damaging Het
Ptpru C T 4: 131,513,067 (GRCm39) R880Q probably benign Het
Rrp36 T C 17: 46,978,932 (GRCm39) K209E probably damaging Het
Scarb1 A G 5: 125,381,286 (GRCm39) V86A probably damaging Het
Sh2d7 A C 9: 54,446,860 (GRCm39) S37R probably benign Het
Slc13a2 A T 11: 78,288,647 (GRCm39) V543E probably damaging Het
Smarcal1 A G 1: 72,630,296 (GRCm39) T117A probably benign Het
Smok2a A G 17: 13,445,865 (GRCm39) R481G possibly damaging Het
Smr2 G A 5: 88,256,699 (GRCm39) A126T probably benign Het
Sspo G T 6: 48,436,979 (GRCm39) W1304C possibly damaging Het
Svep1 A G 4: 58,116,524 (GRCm39) S909P possibly damaging Het
Tchh A T 3: 93,352,880 (GRCm39) K773N unknown Het
Tmem156 T C 5: 65,232,950 (GRCm39) N140S possibly damaging Het
Tmem213 T C 6: 38,092,589 (GRCm39) I107T possibly damaging Het
Tpd52l2 A G 2: 181,153,372 (GRCm39) Y161C probably damaging Het
Trappc8 C T 18: 20,951,139 (GRCm39) A1436T probably benign Het
Ubr3 A G 2: 69,795,855 (GRCm39) Y933C possibly damaging Het
Ufm1 A T 3: 53,765,303 (GRCm39) probably benign Het
Wdr27 A T 17: 15,103,931 (GRCm39) L725Q probably damaging Het
Zdbf2 A G 1: 63,345,035 (GRCm39) D1138G possibly damaging Het
Zkscan16 G A 4: 58,946,481 (GRCm39) V119M probably damaging Het
Zmat5 A G 11: 4,672,431 (GRCm39) D16G probably damaging Het
Other mutations in Cluh
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ACAACATCTTCTTCAGCCTGGG -3'
(R):5'- ATGATGCCCTTACACTCGACC -3'

Sequencing Primer
(F):5'- GCTTTGATGTCCGGGACCAC -3'
(R):5'- TTACACTCGACCGAGGAGCAG -3'
Posted On 2016-12-15