Incidental Mutation 'R5217:Cluh'
ID 403554
Institutional Source Beutler Lab
Gene Symbol Cluh
Ensembl Gene ENSMUSG00000020741
Gene Name clustered mitochondria homolog
Synonyms 1300001I01Rik
MMRRC Submission 042790-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R5217 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 74540321-74561673 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 74550531 bp (GRCm39)
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]
AlphaFold no structure available at present
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

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: C252W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113371
Gene: ENSMUSG00000020741
AA Change: C252W

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 0.6467 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933428M09Rik G T X: 138,080,282 (GRCm39) G16* probably null Het
Abhd11 T A 5: 135,040,398 (GRCm39) W144R probably damaging Het
Abhd2 A G 7: 78,973,378 (GRCm39) E119G probably benign Het
Acbd3 A G 1: 180,553,938 (GRCm39) Y91C probably benign Het
Aox4 C A 1: 58,285,400 (GRCm39) S628* probably null Het
Bahcc1 T A 11: 120,165,285 (GRCm39) Y905* probably null Het
Baiap2l2 T G 15: 79,154,687 (GRCm39) S211R probably benign Het
Cab39l T A 14: 59,764,258 (GRCm39) Y206* probably null Het
Cacna1i A T 15: 80,275,041 (GRCm39) T1830S possibly damaging Het
Catsperg1 A T 7: 28,889,723 (GRCm39) L793* probably null Het
Cdh10 G T 15: 18,966,108 (GRCm39) V198F probably damaging Het
Cenpk A T 13: 104,385,917 (GRCm39) I271F probably damaging Het
Chchd4 A T 6: 91,442,260 (GRCm39) C53S probably damaging Het
Cmklr1 G T 5: 113,752,710 (GRCm39) A97E probably damaging Het
Coil C A 11: 88,871,987 (GRCm39) A116D possibly damaging Het
Eif1ad9 A G 12: 88,296,196 (GRCm39) H58R probably benign Het
F830045P16Rik C A 2: 129,305,493 (GRCm39) V294F probably damaging Het
Fgd6 T A 10: 93,969,939 (GRCm39) M1196K possibly damaging Het
Gabra5 G A 7: 57,140,604 (GRCm39) S31L probably benign Het
Gm7135 A T 1: 97,362,790 (GRCm39) noncoding transcript Het
Gon4l C A 3: 88,794,882 (GRCm39) T695K probably damaging Het
Hectd4 A G 5: 121,491,614 (GRCm39) H3684R possibly damaging Het
Ica1l T A 1: 60,054,917 (GRCm39) M105L probably benign Het
Ift70a1 A G 2: 75,811,147 (GRCm39) L312P probably damaging Het
Igkv8-24 A T 6: 70,194,386 (GRCm39) V7D probably damaging Het
Klf10 G A 15: 38,296,331 (GRCm39) R420W probably damaging Het
Klrc2 C A 6: 129,633,843 (GRCm39) W177C probably damaging Het
Krit1 T A 5: 3,856,451 (GRCm39) C15* probably null Het
Lamc1 C A 1: 153,103,442 (GRCm39) V1375L probably damaging Het
Lrrc37a C T 11: 103,347,780 (GRCm39) V2972I unknown Het
Mapkapk5 T C 5: 121,672,492 (GRCm39) D13G probably damaging Het
Mcph1 T A 8: 18,838,489 (GRCm39) L804I probably damaging Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mrto4 A G 4: 139,075,770 (GRCm39) Y119H probably benign Het
Nbeal2 G T 9: 110,461,158 (GRCm39) A1635E possibly damaging Het
Ndc1 T C 4: 107,246,773 (GRCm39) S399P probably benign Het
Ndufv2 A G 17: 66,394,424 (GRCm39) I147T probably damaging Het
Neb C A 2: 52,052,142 (GRCm39) E382* probably null Het
Nhsl3 C T 4: 129,116,478 (GRCm39) E729K probably damaging Het
Nme8 T A 13: 19,880,861 (GRCm39) I32F probably damaging Het
Obox5 T A 7: 15,491,793 (GRCm39) probably null Het
Or8g23 A G 9: 38,971,065 (GRCm39) V299A probably benign Het
Pcdhb19 A T 18: 37,630,939 (GRCm39) M245L probably benign Het
Pex5l A T 3: 33,061,477 (GRCm39) probably null Het
Phrf1 T G 7: 140,840,616 (GRCm39) D1270E probably damaging Het
Pik3r5 A G 11: 68,382,790 (GRCm39) K277E possibly damaging Het
Ppan T C 9: 20,802,221 (GRCm39) V204A possibly damaging Het
Ppp1r9a A T 6: 5,115,367 (GRCm39) N830I probably damaging Het
Pxn C G 5: 115,682,974 (GRCm39) A92G probably benign Het
Qsox1 A G 1: 155,666,742 (GRCm39) V249A probably benign Het
Rgl3 T A 9: 21,898,944 (GRCm39) *88C probably null Het
Rps6kc1 A T 1: 190,515,802 (GRCm39) W975R probably damaging Het
Sash1 G T 10: 8,656,368 (GRCm39) A208D possibly damaging Het
Simc1 A T 13: 54,687,709 (GRCm39) probably benign Het
Sox7 T C 14: 64,185,449 (GRCm39) Y162H probably damaging Het
Srp72 T A 5: 77,128,375 (GRCm39) L171H probably damaging Het
Stab1 T A 14: 30,881,476 (GRCm39) Y577F probably benign Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Tagln T C 9: 45,842,177 (GRCm39) T139A probably benign Het
Thbs3 T C 3: 89,130,471 (GRCm39) probably null Het
Tmem216 G A 19: 10,529,155 (GRCm39) T131M possibly damaging Het
Tmprss11c A G 5: 86,404,249 (GRCm39) V142A probably benign Het
Trarg1 C G 11: 76,585,102 (GRCm39) A164G possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubtf T C 11: 102,199,128 (GRCm39) M511V probably null Het
Ugt2b36 A T 5: 87,214,114 (GRCm39) V510E probably damaging Het
Vars2 G C 17: 35,969,041 (GRCm39) P887A probably damaging Het
Vmn2r80 A G 10: 79,004,980 (GRCm39) M206V possibly damaging Het
Zbtb5 A G 4: 44,993,990 (GRCm39) F465L probably benign Het
Zfp119a G A 17: 56,172,425 (GRCm39) Q473* probably null Het
Zfp607a T G 7: 27,577,269 (GRCm39) I113R probably damaging Het
Zfp998 A T 13: 66,581,787 (GRCm39) L28H probably damaging Het
Zmym6 C A 4: 126,999,167 (GRCm39) N450K possibly 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
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'- CACCTGAGTATATCCTGCCG -3'
(R):5'- TCACAAAGCAGGTGCCGTAAG -3'

Sequencing Primer
(F):5'- AGTATATCCTGCCGGGGAG -3'
(R):5'- TTTGTCATTAGACTCAGAACACGGGG -3'
Posted On 2016-07-22