Incidental Mutation 'R9634:Cyc1'
ID 725729
Institutional Source Beutler Lab
Gene Symbol Cyc1
Ensembl Gene ENSMUSG00000022551
Gene Name cytochrome c-1
Synonyms Cyct1, 2610002H19Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R9634 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 76227723-76230460 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76227794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 11 (T11A)
Ref Sequence ENSEMBL: ENSMUSP00000023210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023210] [ENSMUST00000023211] [ENSMUST00000160560] [ENSMUST00000229013] [ENSMUST00000230314] [ENSMUST00000230706] [ENSMUST00000231045]
AlphaFold Q9D0M3
Predicted Effect probably benign
Transcript: ENSMUST00000023210
AA Change: T11A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023210
Gene: ENSMUSG00000022551
AA Change: T11A

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 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 unknown
Transcript: ENSMUST00000229013
AA Change: T11A
Predicted Effect probably benign
Transcript: ENSMUST00000230314
Predicted Effect probably benign
Transcript: ENSMUST00000230706
Predicted Effect probably benign
Transcript: ENSMUST00000231045
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca C A 11: 84,184,816 (GRCm39) D1277E probably benign Het
Anapc7 T C 5: 122,560,689 (GRCm39) S17P probably damaging Het
Atad2b T C 12: 5,060,332 (GRCm39) F909S probably damaging Het
Ccnb1 G A 13: 100,920,112 (GRCm39) A133V probably benign Het
Chd7 A G 4: 8,832,499 (GRCm39) T1125A probably damaging Het
Ddx59 G A 1: 136,347,214 (GRCm39) A291T probably damaging Het
Dgkg T A 16: 22,338,387 (GRCm39) probably null Het
Dock8 A G 19: 25,169,585 (GRCm39) D1952G probably damaging Het
Dpf3 A G 12: 83,378,635 (GRCm39) probably null Het
Evi5 T C 5: 107,964,663 (GRCm39) I340V probably benign Het
Extl3 A T 14: 65,314,919 (GRCm39) S88T probably damaging Het
Fktn A G 4: 53,761,230 (GRCm39) H410R probably benign Het
Fyb2 A T 4: 104,856,579 (GRCm39) K596* probably null Het
Gas2l3 C T 10: 89,249,943 (GRCm39) A392T probably benign Het
Gbp7 T A 3: 142,242,115 (GRCm39) V83E probably benign Het
Gja10 A G 4: 32,601,877 (GRCm39) V169A probably damaging Het
Gnao1 A G 8: 94,682,723 (GRCm39) H303R probably benign Het
Iars2 A G 1: 185,027,727 (GRCm39) *734R probably null Het
Il2ra C T 2: 11,685,227 (GRCm39) R188* probably null Het
Inpp5f A C 7: 128,278,515 (GRCm39) D435A possibly damaging Het
Ints3 T C 3: 90,318,606 (GRCm39) T210A Het
Itpkc A G 7: 26,913,880 (GRCm39) I527T probably benign Het
Kcnrg CACAACAA CACAA 14: 61,845,009 (GRCm39) probably benign Het
Loxl3 C T 6: 83,027,835 (GRCm39) T749I probably benign Het
Lrp1b C T 2: 41,135,951 (GRCm39) probably null Het
Ncapg2 T A 12: 116,379,077 (GRCm39) H190Q probably damaging Het
Nkain2 G A 10: 32,766,262 (GRCm39) P66L unknown Het
Nubpl T C 12: 52,349,494 (GRCm39) F242L probably benign Het
Or4f4-ps1 T C 2: 111,330,131 (GRCm39) V178A possibly damaging Het
Or4x11 T C 2: 89,867,907 (GRCm39) S215P probably damaging Het
Or8b51 A G 9: 38,568,869 (GRCm39) I273T probably benign Het
Paip2b T C 6: 83,787,023 (GRCm39) D71G probably damaging Het
Plch1 T C 3: 63,605,152 (GRCm39) E1584G probably damaging Het
Poglut2 T C 1: 44,152,196 (GRCm39) D271G probably damaging Het
Prkag2 A G 5: 25,074,238 (GRCm39) I489T possibly damaging Het
Ptpn2 C T 18: 67,808,789 (GRCm39) probably null Het
Rims3 G A 4: 120,748,517 (GRCm39) R246H possibly damaging Het
Sorl1 T G 9: 41,907,590 (GRCm39) T1466P probably benign Het
Tbl3 T C 17: 24,926,531 (GRCm39) E3G probably benign Het
Tex2 A G 11: 106,458,978 (GRCm39) S151P unknown Het
Tmem260 C A 14: 48,709,816 (GRCm39) A123E probably damaging Het
Trim45 T C 3: 100,839,306 (GRCm39) V736A unknown Het
Vps8 T C 16: 21,372,893 (GRCm39) L1033P probably damaging Het
Vwa1 G A 4: 155,857,336 (GRCm39) P154L probably damaging Het
Wwc2 GCC GCCC 8: 48,304,959 (GRCm39) probably null Het
Ythdc2 A G 18: 45,006,037 (GRCm39) T1177A probably benign Het
Zfp36l2 A G 17: 84,494,056 (GRCm39) Y194H probably damaging Het
Other mutations in Cyc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Cyc1 APN 15 76,229,365 (GRCm39) missense probably benign 0.39
IGL01377:Cyc1 APN 15 76,229,162 (GRCm39) nonsense probably null
IGL03111:Cyc1 APN 15 76,229,072 (GRCm39) missense probably benign 0.01
Colorful UTSW 15 76,228,850 (GRCm39) missense probably damaging 1.00
R0131:Cyc1 UTSW 15 76,229,159 (GRCm39) missense probably benign 0.01
R0967:Cyc1 UTSW 15 76,229,848 (GRCm39) unclassified probably benign
R1428:Cyc1 UTSW 15 76,228,548 (GRCm39) missense probably benign 0.00
R2357:Cyc1 UTSW 15 76,229,766 (GRCm39) missense possibly damaging 0.89
R6794:Cyc1 UTSW 15 76,228,850 (GRCm39) missense probably damaging 1.00
R7506:Cyc1 UTSW 15 76,227,885 (GRCm39) missense probably benign 0.06
R8784:Cyc1 UTSW 15 76,227,863 (GRCm39) missense probably benign
R9013:Cyc1 UTSW 15 76,229,019 (GRCm39) missense possibly damaging 0.89
R9299:Cyc1 UTSW 15 76,228,506 (GRCm39) missense probably benign
R9337:Cyc1 UTSW 15 76,228,506 (GRCm39) missense probably benign
R9382:Cyc1 UTSW 15 76,229,273 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- AATTAGAGTTGCGGCCAGG -3'
(R):5'- TCGAGTTGTAGGAGGAACGC -3'

Sequencing Primer
(F):5'- TCAACCCGGACTAGAGGAGC -3'
(R):5'- AACGCAGGAGACCGATGCC -3'
Posted On 2022-09-12