Incidental Mutation 'R7317:Cluh'
ID 563481
Institutional Source Beutler Lab
Gene Symbol Cluh
Ensembl Gene ENSMUSG00000020741
Gene Name clustered mitochondria homolog
Synonyms 1300001I01Rik
MMRRC Submission 045369-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R7317 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 74540321-74561673 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74556530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 956 (D956G)
Ref Sequence ENSEMBL: ENSMUSP00000090593 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092915] [ENSMUST00000117818]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000092915
AA Change: D956G

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000090593
Gene: ENSMUSG00000020741
AA Change: D956G

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 possibly damaging
Transcript: ENSMUST00000117818
AA Change: D905G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113371
Gene: ENSMUSG00000020741
AA Change: D905G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 G A 5: 8,140,202 (GRCm39) P832L probably benign Het
Adamts17 C T 7: 66,490,304 (GRCm39) R129* probably null Het
Alg5 G T 3: 54,656,752 (GRCm39) R321L probably benign Het
Amotl1 T A 9: 14,486,515 (GRCm39) T460S probably benign Het
Ankrd50 T C 3: 38,537,332 (GRCm39) E7G possibly damaging Het
Ap3b2 T C 7: 81,110,776 (GRCm39) T1000A unknown Het
Arap2 G A 5: 62,807,067 (GRCm39) T1200M probably damaging Het
Asb2 A T 12: 103,299,616 (GRCm39) I272N probably damaging Het
Bicd2 T C 13: 49,531,784 (GRCm39) L342P probably damaging Het
C1qtnf6 T A 15: 78,409,206 (GRCm39) I214F probably damaging Het
Cdc42bpg T A 19: 6,364,534 (GRCm39) H587Q probably benign Het
Cfap70 T A 14: 20,450,502 (GRCm39) I1010F possibly damaging Het
Chd1 A T 17: 15,962,536 (GRCm39) K764N possibly damaging Het
Ehbp1l1 T C 19: 5,770,730 (GRCm39) D243G probably benign Het
Ercc4 T C 16: 12,939,977 (GRCm39) V169A probably benign Het
Erich6 T C 3: 58,544,305 (GRCm39) E94G probably benign Het
Fubp3 A G 2: 31,494,624 (GRCm39) probably null Het
Gabbr1 C T 17: 37,380,305 (GRCm39) T736I probably damaging Het
Garre1 A G 7: 33,963,072 (GRCm39) V200A probably benign Het
Gm14496 T A 2: 181,637,613 (GRCm39) M229K possibly damaging Het
Gm4553 ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC 7: 141,719,157 (GRCm39) probably benign Het
Gspt1 T C 16: 11,040,521 (GRCm39) T596A probably benign Het
H1f4 A G 13: 23,806,350 (GRCm39) I44T probably damaging Het
Htr5b T A 1: 121,438,157 (GRCm39) Y358F probably damaging Het
Il18r1 A T 1: 40,513,992 (GRCm39) Y66F possibly damaging Het
Il18rap A G 1: 40,564,536 (GRCm39) T189A probably damaging Het
Irag2 G A 6: 145,104,424 (GRCm39) G164R possibly damaging Het
Itgav G T 2: 83,625,327 (GRCm39) A771S probably benign Het
Klf11 T C 12: 24,705,518 (GRCm39) V324A possibly damaging Het
Krtap15-1 T C 16: 88,626,193 (GRCm39) C87R probably benign Het
Mapk8ip3 C T 17: 25,120,692 (GRCm39) G807D probably benign Het
Mbd5 A G 2: 49,169,755 (GRCm39) D1642G probably benign Het
Med15 G T 16: 17,489,507 (GRCm39) Q356K unknown Het
Mmp3 A G 9: 7,446,937 (GRCm39) Y39C probably damaging Het
Mon2 A G 10: 122,849,851 (GRCm39) S1149P probably damaging Het
Msh3 A G 13: 92,422,512 (GRCm39) I548T probably damaging Het
Noc2l T A 4: 156,323,673 (GRCm39) V179E possibly damaging Het
Or4b1b A T 2: 90,112,748 (GRCm39) M57K probably damaging Het
Or5k3 T G 16: 58,969,684 (GRCm39) M157R possibly damaging Het
Or5p64 G T 7: 107,854,425 (GRCm39) Q307K probably benign Het
Oxa1l A T 14: 54,598,312 (GRCm39) M1L probably benign Het
Pcdhb10 A T 18: 37,546,079 (GRCm39) Q385L possibly damaging Het
Pdzd2 T C 15: 12,592,329 (GRCm39) K105R probably damaging Het
Pex1 A T 5: 3,668,875 (GRCm39) D582V probably damaging Het
Pheta1 A T 5: 121,991,336 (GRCm39) T233S possibly damaging Het
Pi4ka A G 16: 17,223,496 (GRCm39) probably null Het
Pigw T C 11: 84,768,066 (GRCm39) N421S probably benign Het
Plek T C 11: 16,944,739 (GRCm39) K97R probably benign Het
R3hcc1l C T 19: 42,571,979 (GRCm39) R753* probably null Het
R3hdml G A 2: 163,344,367 (GRCm39) W252* probably null Het
Septin12 T C 16: 4,809,599 (GRCm39) K238E probably damaging Het
Sgce G A 6: 4,691,615 (GRCm39) T320I probably benign Het
Sidt2 A T 9: 45,854,988 (GRCm39) C562* probably null Het
Skint8 T C 4: 111,796,717 (GRCm39) C274R possibly damaging Het
Slc13a5 A T 11: 72,135,953 (GRCm39) M529K probably damaging Het
Smg8 T G 11: 86,976,391 (GRCm39) S397R possibly damaging Het
Spock3 G T 8: 63,566,590 (GRCm39) R68L possibly damaging Het
Stau2 T A 1: 16,530,553 (GRCm39) H122L unknown Het
Tent5a G C 9: 85,206,670 (GRCm39) A376G possibly damaging Het
Tert G A 13: 73,790,495 (GRCm39) R858H probably damaging Het
Tgm3 G A 2: 129,890,211 (GRCm39) R658Q probably benign Het
Tmc4 A G 7: 3,672,918 (GRCm39) I455T probably benign Het
Tmtc4 G A 14: 123,215,593 (GRCm39) P18S probably benign Het
Tnc A G 4: 63,890,959 (GRCm39) I1641T probably damaging Het
Trav14-3 A T 14: 54,000,951 (GRCm39) N54I probably damaging Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Unc5c T A 3: 141,495,703 (GRCm39) M524K probably benign Het
Unc93a A G 17: 13,335,171 (GRCm39) F292L probably benign Het
Uso1 A G 5: 92,321,851 (GRCm39) N248S possibly damaging Het
Usp5 A G 6: 124,803,281 (GRCm39) L73P probably damaging Het
Utp20 T A 10: 88,598,797 (GRCm39) I60F possibly damaging Het
Vmn2r94 T A 17: 18,463,882 (GRCm39) I803F probably benign 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
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
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'- ACAGGCTTAGTTATGTGGGACC -3'
(R):5'- TTCCTTCAGCAGAATCTGGGG -3'

Sequencing Primer
(F):5'- ATGTGGGACCAGCGTGG -3'
(R):5'- ATCCAAAGTCTCAGCCGTGG -3'
Posted On 2019-06-26