Incidental Mutation 'R6326:Cluh'
ID 510428
Institutional Source Beutler Lab
Gene Symbol Cluh
Ensembl Gene ENSMUSG00000020741
Gene Name clustered mitochondria homolog
Synonyms 1300001I01Rik
MMRRC Submission 044480-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R6326 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 74540321-74561673 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 74557068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 1010 (A1010V)
Ref Sequence ENSEMBL: ENSMUSP00000113371 (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: A1061V

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000090593
Gene: ENSMUSG00000020741
AA Change: A1061V

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 benign
Transcript: ENSMUST00000117818
AA Change: A1010V

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000113371
Gene: ENSMUSG00000020741
AA Change: A1010V

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: ENSMUST00000128155
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155558
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 A T 7: 66,770,636 (GRCm39) Y915F probably benign Het
Adap2 T A 11: 80,045,848 (GRCm39) F43I probably damaging Het
Adprs A T 4: 126,210,406 (GRCm39) L358Q possibly damaging Het
Akap9 A C 5: 4,012,061 (GRCm39) Q921H probably damaging Het
Amigo2 A G 15: 97,143,256 (GRCm39) S389P probably benign Het
Atg2b A T 12: 105,627,351 (GRCm39) C545* probably null Het
C2cd3 A G 7: 100,065,635 (GRCm39) E807G probably benign Het
Ccdc110 A G 8: 46,395,078 (GRCm39) E323G probably damaging Het
Cdk5rap2 T A 4: 70,153,691 (GRCm39) S1711C probably damaging Het
Cebpzos T G 17: 79,226,486 (GRCm39) D39E probably damaging Het
Cenpe A G 3: 134,945,539 (GRCm39) N1018D probably benign Het
Cfap68 T G 9: 50,676,057 (GRCm39) N87T probably damaging Het
Clspn C A 4: 126,459,532 (GRCm39) H141Q probably damaging Het
Col27a1 G T 4: 63,242,678 (GRCm39) probably benign Het
Cpt2 T C 4: 107,771,513 (GRCm39) M61V probably benign Het
Ddr2 T A 1: 169,814,709 (GRCm39) H578L probably damaging Het
Dnah14 T A 1: 181,611,121 (GRCm39) I3749N probably damaging Het
Dnajc18 T C 18: 35,813,978 (GRCm39) T264A possibly damaging Het
Ecpas T A 4: 58,827,068 (GRCm39) T1022S probably benign Het
Eml6 T C 11: 29,769,066 (GRCm39) N693S probably damaging Het
Ephx4 A G 5: 107,553,977 (GRCm39) E9G probably damaging Het
Eps15l1 G A 8: 73,095,278 (GRCm39) Q747* probably null Het
Flrt1 C T 19: 7,073,974 (GRCm39) S191N probably damaging Het
Gm5114 C T 7: 39,057,579 (GRCm39) R680H probably benign Het
Gm5431 T C 11: 48,780,172 (GRCm39) H250R probably damaging Het
Gm7233 T C 14: 43,040,342 (GRCm39) C198R possibly damaging Het
Herc2 C G 7: 55,872,682 (GRCm39) Q4407E probably damaging Het
Hmx3 C G 7: 131,144,734 (GRCm39) probably benign Het
Hoxb7 C A 11: 96,177,909 (GRCm39) A119E probably benign Het
Ifi207 A T 1: 173,557,532 (GRCm39) M402K probably benign Het
Ints14 T C 9: 64,871,719 (GRCm39) V19A probably benign Het
Itgae T A 11: 73,022,519 (GRCm39) N911K possibly damaging Het
Kif1a T C 1: 93,004,048 (GRCm39) S145G probably damaging Het
Klhdc4 A G 8: 122,531,793 (GRCm39) W187R probably damaging Het
Krt1 A T 15: 101,758,684 (GRCm39) I160N probably damaging Het
Krt12 T C 11: 99,307,745 (GRCm39) T448A probably benign Het
Lcmt2 G A 2: 120,969,938 (GRCm39) R382* probably null Het
Map3k8 C T 18: 4,340,651 (GRCm39) S221N probably damaging Het
Med17 T C 9: 15,190,854 (GRCm39) D79G probably benign Het
Mlf1 A T 3: 67,307,060 (GRCm39) I257F probably damaging Het
Mov10l1 T A 15: 88,879,098 (GRCm39) F153I probably damaging Het
Msto1 A C 3: 88,819,405 (GRCm39) V149G probably damaging Het
Mybl1 T C 1: 9,748,732 (GRCm39) probably null Het
Myoc A G 1: 162,476,580 (GRCm39) Y428C probably damaging Het
Nin A G 12: 70,091,955 (GRCm39) S785P possibly damaging Het
Oit3 A T 10: 59,264,061 (GRCm39) F358I probably damaging Het
Or5t15 C T 2: 86,681,338 (GRCm39) V235I probably benign Het
Or6c88 A G 10: 129,406,571 (GRCm39) T16A possibly damaging Het
Paip1 A G 13: 119,566,753 (GRCm39) N29S probably benign Het
Pcdhgb4 T C 18: 37,855,509 (GRCm39) S635P probably benign Het
Pcsk1 A G 13: 75,280,298 (GRCm39) N708D possibly damaging Het
Plch1 C T 3: 63,688,811 (GRCm39) W131* probably null Het
Prag1 A T 8: 36,569,860 (GRCm39) M148L possibly damaging Het
Ptch1 A G 13: 63,691,359 (GRCm39) L176P probably damaging Het
Ralgapa1 A T 12: 55,793,931 (GRCm39) V568D probably damaging Het
Rb1 A T 14: 73,435,974 (GRCm39) M897K probably benign Het
Resf1 T A 6: 149,230,493 (GRCm39) Y1180N probably damaging Het
Robo3 T A 9: 37,338,323 (GRCm39) Q386L probably damaging Het
Rtn4rl1 T C 11: 75,156,828 (GRCm39) V420A possibly damaging Het
Sall1 A T 8: 89,756,896 (GRCm39) N1069K probably benign Het
Sipa1l1 A G 12: 82,419,242 (GRCm39) E640G probably damaging Het
Slc22a2 C A 17: 12,831,297 (GRCm39) Y362* probably null Het
Slc5a9 T C 4: 111,737,450 (GRCm39) E603G probably benign Het
Slc6a17 A T 3: 107,407,722 (GRCm39) I83N probably damaging Het
Snx29 G T 16: 11,221,430 (GRCm39) M285I probably benign Het
Spata2 T C 2: 167,326,094 (GRCm39) T242A possibly damaging Het
Stard13 A G 5: 150,970,384 (GRCm39) L733P possibly damaging Het
Svep1 A G 4: 58,073,045 (GRCm39) V2088A possibly damaging Het
Tdp2 A G 13: 25,024,540 (GRCm39) E279G probably damaging Het
Tnfrsf8 T G 4: 144,995,794 (GRCm39) I422L probably damaging Het
Tpk1 T A 6: 43,323,736 (GRCm39) T189S possibly damaging Het
Trhde A T 10: 114,403,129 (GRCm39) M498K probably damaging Het
Trim35 T A 14: 66,540,653 (GRCm39) H168Q possibly damaging Het
Tubb5 T C 17: 36,147,347 (GRCm39) probably benign Het
Tut4 C T 4: 108,336,177 (GRCm39) T6I probably benign Het
Vmn1r181 G A 7: 23,684,183 (GRCm39) R216Q probably benign Het
Vmn2r77 G A 7: 86,451,031 (GRCm39) G306R probably benign Het
Xkr4 C T 1: 3,741,261 (GRCm39) R104H possibly damaging Het
Zfp398 T C 6: 47,843,355 (GRCm39) I337T 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
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
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'- TGGTCAAGCATGTCAACCCC -3'
(R):5'- TGGACCTCCCTACATGGAAAC -3'

Sequencing Primer
(F):5'- TGTCAACCCCAAGGCGTC -3'
(R):5'- ATGGAAACCCATTCTCCCTG -3'
Posted On 2018-04-02