Incidental Mutation 'IGL02620:Cluh'
ID300829
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cluh
Ensembl Gene ENSMUSG00000020741
Gene Nameclustered mitochondria (cluA/CLU1) homolog
Synonyms1300001I01Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.259) question?
Stock #IGL02620
Quality Score
Status
Chromosome11
Chromosomal Location74649495-74670847 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 74665067 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 819 (Q819*)
Ref Sequence ENSEMBL: ENSMUSP00000113371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092915] [ENSMUST00000117818]
Predicted Effect probably null
Transcript: ENSMUST00000092915
AA Change: Q870*
SMART Domains Protein: ENSMUSP00000090593
Gene: ENSMUSG00000020741
AA Change: Q870*

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 null
Transcript: ENSMUST00000117818
AA Change: Q819*
SMART Domains Protein: ENSMUSP00000113371
Gene: ENSMUSG00000020741
AA Change: Q819*

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik C T 2: 111,211,625 V322I probably benign Het
4932438A13Rik T C 3: 37,035,945 V4174A possibly damaging Het
Abcc12 A T 8: 86,505,314 probably null Het
Ccdc150 T A 1: 54,263,545 L108* probably null Het
Cdon C T 9: 35,452,799 T71I probably benign Het
Chdh T C 14: 30,031,139 W2R probably damaging Het
Ckap5 T G 2: 91,606,369 L1605V probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cwc27 C A 13: 104,802,206 probably benign Het
Elk4 C A 1: 132,018,371 A329D probably benign Het
Fbxo40 T C 16: 36,966,080 H709R probably benign Het
Flna A G X: 74,229,976 probably benign Het
Gm20390 G T 11: 93,952,856 R173S possibly damaging Het
Grip2 G T 6: 91,778,606 D592E possibly damaging Het
H2-T24 T G 17: 36,017,291 N100T probably damaging Het
Hepacam2 C A 6: 3,487,280 probably benign Het
Ighv2-2 T A 12: 113,588,292 T109S possibly damaging Het
Ipo11 T C 13: 106,876,281 probably null Het
Kcnh8 T C 17: 52,898,497 M540T probably damaging Het
Kifc3 A G 8: 95,109,954 S82P probably damaging Het
Map4k5 T C 12: 69,892,702 Y20C probably benign Het
Milr1 C A 11: 106,754,918 S95R probably damaging Het
Mtnr1b A C 9: 15,874,321 V47G possibly damaging Het
Olfr2 T A 7: 107,001,618 K81* probably null Het
Phactr2 T C 10: 13,291,888 R100G probably damaging Het
Ppargc1b A G 18: 61,298,739 Y997H probably damaging Het
Pramel3 A G X: 135,310,409 M397V probably benign Het
Ptprz1 A G 6: 22,959,740 K79E probably damaging Het
Rabgef1 T C 5: 130,191,022 S109P probably damaging Het
Raf1 A T 6: 115,632,887 probably benign Het
Rptor T C 11: 119,780,587 L292P probably benign Het
Slc25a45 A G 19: 5,884,526 D174G probably damaging Het
Tbcd C T 11: 121,461,255 T146M probably damaging Het
Zfp458 T A 13: 67,257,994 H127L probably damaging Het
Other mutations in Cluh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Cluh APN 11 74664064 missense probably benign 0.28
IGL00858:Cluh APN 11 74659605 missense possibly damaging 0.86
IGL01380:Cluh APN 11 74665946 missense probably benign 0.04
IGL02402:Cluh APN 11 74657171 missense probably damaging 1.00
IGL02990:Cluh APN 11 74667765 splice site probably null
IGL03163:Cluh APN 11 74666068 missense probably benign 0.44
IGL03208:Cluh APN 11 74669506 splice site probably null
IGL03293:Cluh APN 11 74665752 missense probably benign 0.03
IGL03408:Cluh APN 11 74665953 missense probably benign 0.06
spent UTSW 11 74660372 missense probably damaging 1.00
FR4342:Cluh UTSW 11 74669524 small insertion probably benign
FR4342:Cluh UTSW 11 74669526 small insertion probably benign
FR4449:Cluh UTSW 11 74669532 small insertion probably benign
FR4589:Cluh UTSW 11 74669531 small insertion probably benign
FR4737:Cluh UTSW 11 74669514 small insertion probably benign
FR4737:Cluh UTSW 11 74669519 small insertion probably benign
FR4737:Cluh UTSW 11 74669524 small insertion probably benign
FR4737:Cluh UTSW 11 74669533 small insertion probably benign
FR4976:Cluh UTSW 11 74669520 small insertion probably benign
R0147:Cluh UTSW 11 74665938 missense probably damaging 1.00
R0153:Cluh UTSW 11 74657350 splice site probably benign
R0506:Cluh UTSW 11 74664894 missense probably benign 0.20
R0526:Cluh UTSW 11 74665986 missense probably benign 0.05
R0834:Cluh UTSW 11 74663805 missense probably benign 0.02
R1873:Cluh UTSW 11 74662076 missense possibly damaging 0.72
R1991:Cluh UTSW 11 74659529 nonsense probably null
R1992:Cluh UTSW 11 74660002 missense probably damaging 1.00
R2095:Cluh UTSW 11 74661724 nonsense probably null
R2101:Cluh UTSW 11 74660502 splice site probably benign
R2103:Cluh UTSW 11 74659529 nonsense probably null
R2220:Cluh UTSW 11 74667121 missense probably damaging 1.00
R3702:Cluh UTSW 11 74665356 missense probably benign
R3853:Cluh UTSW 11 74656453 missense probably benign 0.00
R3900:Cluh UTSW 11 74667104 missense probably benign 0.29
R4891:Cluh UTSW 11 74665059 missense possibly damaging 0.51
R4895:Cluh UTSW 11 74667405 missense probably damaging 1.00
R5056:Cluh UTSW 11 74661946 missense probably damaging 1.00
R5089:Cluh UTSW 11 74660372 missense probably damaging 1.00
R5217:Cluh UTSW 11 74659705 missense probably damaging 1.00
R5346:Cluh UTSW 11 74665218 missense probably damaging 1.00
R5382:Cluh UTSW 11 74665109 intron probably benign
R5516:Cluh UTSW 11 74660444 missense probably damaging 1.00
R5809:Cluh UTSW 11 74661700 missense probably damaging 1.00
R6146:Cluh UTSW 11 74667228 splice site probably null
R6326:Cluh UTSW 11 74666242 missense probably benign 0.10
R6541:Cluh UTSW 11 74657214 missense probably damaging 1.00
R6674:Cluh UTSW 11 74666227 missense probably damaging 1.00
R6870:Cluh UTSW 11 74665384 missense probably damaging 1.00
R6875:Cluh UTSW 11 74661918 missense probably damaging 1.00
R7086:Cluh UTSW 11 74667340 missense possibly damaging 0.46
R7225:Cluh UTSW 11 74666406 splice site probably null
R7310:Cluh UTSW 11 74669459 missense probably benign 0.10
R7317:Cluh UTSW 11 74665704 missense possibly damaging 0.90
R7674:Cluh UTSW 11 74667720 missense probably damaging 1.00
R7941:Cluh UTSW 11 74659757 missense probably benign 0.00
RF020:Cluh UTSW 11 74669538 small insertion probably benign
RF032:Cluh UTSW 11 74669515 small insertion probably benign
X0028:Cluh UTSW 11 74663466 missense probably benign 0.26
Z1177:Cluh UTSW 11 74667754 missense possibly damaging 0.82
Posted On2015-04-16