Incidental Mutation 'R5089:Cluh'
ID 387649
Institutional Source Beutler Lab
Gene Symbol Cluh
Ensembl Gene ENSMUSG00000020741
Gene Name clustered mitochondria homolog
Synonyms 1300001I01Rik
MMRRC Submission 042678-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R5089 (G1)
Quality Score 208
Status Validated
Chromosome 11
Chromosomal Location 74540321-74561673 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74551198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 349 (E349G)
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: E349G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090593
Gene: ENSMUSG00000020741
AA Change: E349G

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: E349G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113371
Gene: ENSMUSG00000020741
AA Change: E349G

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: ENSMUST00000130398
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155558
Meta Mutation Damage Score 0.3485 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency 98% (65/66)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik T C 8: 117,698,672 (GRCm39) N145S possibly damaging Het
Acp2 T C 2: 91,042,267 (GRCm39) probably benign Het
Adgrf2 G A 17: 43,020,988 (GRCm39) A612V probably benign Het
Bltp1 T A 3: 37,041,651 (GRCm39) D2676E probably benign Het
Cct3 T G 3: 88,208,150 (GRCm39) M46R probably damaging Het
Cdc123 T C 2: 5,809,811 (GRCm39) D200G probably benign Het
Cdh9 T A 15: 16,778,362 (GRCm39) F59Y probably damaging Het
Col16a1 C T 4: 129,972,988 (GRCm39) T643M probably benign Het
Col5a1 G A 2: 27,908,614 (GRCm39) W67* probably null Het
Crbn T C 6: 106,758,679 (GRCm39) H381R possibly damaging Het
Crim1 A G 17: 78,681,519 (GRCm39) D991G probably damaging Het
Dhx16 A T 17: 36,194,981 (GRCm39) M503L probably damaging Het
Dthd1 A G 5: 63,007,248 (GRCm39) T650A probably benign Het
Etfa T A 9: 55,396,150 (GRCm39) K139* probably null Het
Flnc T C 6: 29,447,812 (GRCm39) I1205T probably damaging Het
Fzd6 T A 15: 38,870,875 (GRCm39) C32S probably damaging Het
Gm1110 T A 9: 26,793,683 (GRCm39) D515V probably damaging Het
Gm7676 T C 8: 13,946,401 (GRCm39) noncoding transcript Het
Gpr157 T C 4: 150,186,750 (GRCm39) S293P possibly damaging Het
Hc T C 2: 34,914,902 (GRCm39) D810G probably benign Het
Helz2 T C 2: 180,876,942 (GRCm39) H1184R probably benign Het
Hoxc5 A T 15: 102,922,487 (GRCm39) probably benign Het
Iah1 C T 12: 21,373,309 (GRCm39) S196L possibly damaging Het
Il5 C T 11: 53,612,655 (GRCm39) T55I possibly damaging Het
Kras T C 6: 145,170,869 (GRCm39) K169E probably benign Het
Larp1 C A 11: 57,938,693 (GRCm39) T492K possibly damaging Het
Lgr5 T C 10: 115,314,328 (GRCm39) D203G probably damaging Het
Lpcat2 G A 8: 93,606,071 (GRCm39) V241M probably damaging Het
Mpeg1 G A 19: 12,440,361 (GRCm39) M606I probably benign Het
Ms4a1 G A 19: 11,236,176 (GRCm39) P4S probably benign Het
Nat10 A T 2: 103,587,488 (GRCm39) probably benign Het
Ncaph2 T A 15: 89,240,148 (GRCm39) probably null Het
Nfat5 T A 8: 108,078,070 (GRCm39) V403D probably damaging Het
Or2y10 T A 11: 49,455,240 (GRCm39) M164K possibly damaging Het
Or4c109 A G 2: 88,818,516 (GRCm39) F10S probably damaging Het
Pax7 T C 4: 139,557,576 (GRCm39) H65R probably damaging Het
Phf20 C A 2: 156,144,782 (GRCm39) H797N probably benign Het
Pkhd1l1 T A 15: 44,455,283 (GRCm39) S4015T probably benign Het
Prdm5 C T 6: 65,833,074 (GRCm39) H148Y probably benign Het
Prpf8 A G 11: 75,400,054 (GRCm39) probably null Het
Rangap1 A C 15: 81,594,664 (GRCm39) D388E probably benign Het
Sardh A G 2: 27,129,625 (GRCm39) probably null Het
Serpinb6b G A 13: 33,162,133 (GRCm39) E192K probably benign Het
Shfl A T 9: 20,780,212 (GRCm39) M1L probably benign Het
Skor1 A G 9: 63,053,205 (GRCm39) S216P probably damaging Het
Slc51a A G 16: 32,296,364 (GRCm39) probably null Het
Smarcb1 T C 10: 75,751,013 (GRCm39) T74A probably benign Het
Spg11 A T 2: 121,945,198 (GRCm39) Y107* probably null Het
Spmip5 A T 19: 58,774,678 (GRCm39) L176H probably damaging Het
Stk25 T A 1: 93,552,330 (GRCm39) K350M probably benign Het
Syne1 C T 10: 5,355,444 (GRCm39) W379* probably null Het
Taco1 A T 11: 105,960,437 (GRCm39) E126V probably benign Het
Tbc1d12 T A 19: 38,905,232 (GRCm39) L649* probably null Het
Trpm3 G A 19: 22,744,120 (GRCm39) G238R probably damaging Het
Yy1 C A 12: 108,759,663 (GRCm39) Q109K 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
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'- AAATGGTGTCCCAGTGCCTG -3'
(R):5'- CTACTGGGAGGTGCATATGAG -3'

Sequencing Primer
(F):5'- TGAGAGTCCCTAGTCCAAGG -3'
(R):5'- TGCATATGAGCCTGGCAG -3'
Posted On 2016-06-06