Incidental Mutation 'IGL01377:Cyc1'
ID78752
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyc1
Ensembl Gene ENSMUSG00000022551
Gene Namecytochrome c-1
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.943) question?
Stock #IGL01377
Quality Score
Status
Chromosome15
Chromosomal Location76343523-76346260 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 76344962 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 143 (R143*)
Ref Sequence ENSEMBL: ENSMUSP00000155170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023210] [ENSMUST00000023211] [ENSMUST00000160560] [ENSMUST00000229013] [ENSMUST00000230314] [ENSMUST00000230706] [ENSMUST00000231045]
Predicted Effect probably null
Transcript: ENSMUST00000023210
AA Change: R202*
SMART Domains Protein: ENSMUSP00000023210
Gene: ENSMUSG00000022551
AA Change: R202*

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
transmembrane domain 59 81 N/A INTRINSIC
Pfam:Cytochrom_C1 96 314 1.5e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000023211
SMART Domains Protein: ENSMUSP00000023211
Gene: ENSMUSG00000022552

DomainStartEndE-ValueType
Pfam:Sharpin_PH 13 125 1.2e-44 PFAM
low complexity region 187 202 N/A INTRINSIC
PDB:4DBG|A 203 299 1e-17 PDB
SCOP:d1euvb_ 212 301 2e-5 SMART
Blast:UBQ 218 299 2e-26 BLAST
ZnF_RBZ 343 367 9.65e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147001
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154477
Predicted Effect probably benign
Transcript: ENSMUST00000159429
SMART Domains Protein: ENSMUSP00000124755
Gene: ENSMUSG00000022552

DomainStartEndE-ValueType
ZnF_RBZ 46 70 9.65e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160560
SMART Domains Protein: ENSMUSP00000125382
Gene: ENSMUSG00000022552

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
PDB:4EMO|D 24 62 2e-13 PDB
low complexity region 64 81 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229013
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229536
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229710
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230016
Predicted Effect probably benign
Transcript: ENSMUST00000230314
Predicted Effect probably benign
Transcript: ENSMUST00000230706
Predicted Effect probably null
Transcript: ENSMUST00000231045
AA Change: R143*
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the cytochrome bc1 complex, which plays an important role in the mitochondrial respiratory chain by transferring electrons from the Rieske iron-sulfur protein to cytochrome c. Mutations in this gene may cause mitochondrial complex III deficiency, nuclear type 6. [provided by RefSeq, Dec 2013]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,973,452 probably null Het
A530064D06Rik A T 17: 48,152,940 V196D probably damaging Het
Ago1 C T 4: 126,459,817 V279M probably damaging Het
Ccdc170 A G 10: 4,560,966 D675G probably damaging Het
Cdc42bpa T A 1: 180,065,143 Y291N probably damaging Het
Cdca5 T C 19: 6,090,282 S158P probably damaging Het
Cdh8 A G 8: 99,033,389 I576T probably damaging Het
Cpsf2 T A 12: 101,987,381 probably null Het
Dcaf6 A T 1: 165,388,724 S437T probably benign Het
Eif5b A G 1: 38,036,098 D552G probably benign Het
Epor T C 9: 21,959,297 D429G probably damaging Het
Farp2 A G 1: 93,603,459 I560V possibly damaging Het
Fbxw21 T A 9: 109,146,645 R228* probably null Het
Fyb T C 15: 6,580,320 S125P probably benign Het
Gfm1 A T 3: 67,474,753 Y720F probably damaging Het
Hspbap1 T A 16: 35,825,311 D455E possibly damaging Het
Katnal2 T C 18: 77,002,457 R285G probably damaging Het
Kif12 G A 4: 63,170,725 T153I probably damaging Het
Klhl31 T C 9: 77,650,731 F243S probably benign Het
Large2 A G 2: 92,369,331 Y208H probably damaging Het
Lrp1b A G 2: 40,601,538 V239A probably damaging Het
Mblac2 G A 13: 81,750,147 R214H probably damaging Het
Mlf2 A G 6: 124,934,691 N168D probably damaging Het
Mtmr6 T A 14: 60,282,034 Y134* probably null Het
Mtus1 T C 8: 41,083,135 K515E possibly damaging Het
Nek1 A G 8: 61,089,456 T718A probably benign Het
Nfx1 A G 4: 40,977,241 N305S probably benign Het
Nrxn3 T A 12: 89,533,012 probably null Het
Nsf T C 11: 103,872,647 D377G probably damaging Het
Pde4b A G 4: 102,487,402 E102G probably damaging Het
Pdlim4 G T 11: 54,056,304 S56R probably benign Het
Poc5 T C 13: 96,401,631 V268A probably benign Het
Sec23b A C 2: 144,559,237 E6A probably damaging Het
Sgsm1 A T 5: 113,276,182 probably benign Het
Slc16a12 T A 19: 34,672,684 N317I possibly damaging Het
Slc1a7 A T 4: 107,992,965 D91V probably damaging Het
Slc30a9 T G 5: 67,315,830 S86A probably benign Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Tacr1 T C 6: 82,403,655 S16P probably benign Het
Tmtc1 A C 6: 148,245,787 V804G possibly damaging Het
Ttc7b A G 12: 100,355,112 F587L probably benign Het
Vmn2r86 A T 10: 130,452,986 D215E probably damaging Het
Other mutations in Cyc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Cyc1 APN 15 76345165 missense probably benign 0.39
IGL03111:Cyc1 APN 15 76344872 missense probably benign 0.01
R0131:Cyc1 UTSW 15 76344959 missense probably benign 0.01
R0967:Cyc1 UTSW 15 76345648 unclassified probably benign
R1428:Cyc1 UTSW 15 76344348 missense probably benign 0.00
R2357:Cyc1 UTSW 15 76345566 missense possibly damaging 0.89
R6794:Cyc1 UTSW 15 76344650 missense probably damaging 1.00
R7506:Cyc1 UTSW 15 76343685 missense probably benign 0.06
R7989:Cyc1 UTSW 15 76343591 utr 5 prime probably null
Posted On2013-11-05