Incidental Mutation 'R9382:Cyc1'
ID 710119
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 # R9382 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 76227723-76230460 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76229273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 211 (V211A)
Ref Sequence ENSEMBL: ENSMUSP00000023210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023210] [ENSMUST00000023211] [ENSMUST00000160560] [ENSMUST00000229013] [ENSMUST00000230314] [ENSMUST00000230706] [ENSMUST00000231045]
AlphaFold Q9D0M3
Predicted Effect possibly damaging
Transcript: ENSMUST00000023210
AA Change: V211A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023210
Gene: ENSMUSG00000022551
AA Change: V211A

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 probably benign
Transcript: ENSMUST00000229013
Predicted Effect probably benign
Transcript: ENSMUST00000230314
Predicted Effect probably benign
Transcript: ENSMUST00000230706
Predicted Effect possibly damaging
Transcript: ENSMUST00000231045
AA Change: V152A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G A 11: 109,870,711 (GRCm39) S147L probably benign Het
Abraxas1 A G 5: 100,957,649 (GRCm39) V190A probably benign Het
Aoc1l2 A T 6: 48,907,298 (GRCm39) K99N probably benign Het
Aox1 T A 1: 58,104,501 (GRCm39) H559Q possibly damaging Het
Arhgap31 C T 16: 38,422,988 (GRCm39) G1026D probably benign Het
C1ra T C 6: 124,490,819 (GRCm39) F71L probably benign Het
C530025M09Rik T C 2: 149,672,640 (GRCm39) H165R unknown Het
Celf2 A T 2: 6,726,404 (GRCm39) M43K probably damaging Het
Celsr3 T C 9: 108,706,961 (GRCm39) V1148A possibly damaging Het
Cmya5 T G 13: 93,229,884 (GRCm39) K1735Q probably benign Het
Cntln A C 4: 84,968,318 (GRCm39) M846L probably benign Het
Cntn5 T C 9: 9,673,817 (GRCm39) T762A probably benign Het
Col11a1 T A 3: 113,899,046 (GRCm39) L525Q unknown Het
Col12a1 T C 9: 79,589,364 (GRCm39) T1064A probably benign Het
Ddx56 A G 11: 6,215,516 (GRCm39) S296P probably damaging Het
Deptor A T 15: 54,975,798 (GRCm39) probably benign Het
Ezh1 C T 11: 101,094,265 (GRCm39) R409H possibly damaging Het
Fam228b T A 12: 4,798,147 (GRCm39) E190V probably damaging Het
Fkbp15 A T 4: 62,237,210 (GRCm39) L635H probably damaging Het
Frem1 G A 4: 82,901,622 (GRCm39) L969F possibly damaging Het
Gabrg2 T C 11: 41,858,433 (GRCm39) R232G probably benign Het
Gpr26 G A 7: 131,568,963 (GRCm39) D103N probably damaging Het
Grid2ip T G 5: 143,361,103 (GRCm39) probably null Het
Ints7 T C 1: 191,351,793 (GRCm39) V834A probably damaging Het
Kcnh7 T A 2: 62,667,612 (GRCm39) H309L probably benign Het
Mael T C 1: 166,053,282 (GRCm39) E241G probably damaging Het
Neb T A 2: 52,122,277 (GRCm39) E584V Het
Nexn C T 3: 151,959,401 (GRCm39) V23M probably damaging Het
Npas1 T C 7: 16,190,231 (GRCm39) probably null Het
Or51f1 T C 7: 102,506,014 (GRCm39) I158M probably benign Het
Pcdh17 T G 14: 84,685,522 (GRCm39) V663G probably damaging Het
Pga5 C T 19: 10,646,897 (GRCm39) G303S probably damaging Het
Poln T A 5: 34,164,842 (GRCm39) K844N probably damaging Het
Prkar1b C T 5: 139,036,442 (GRCm39) D227N probably damaging Het
Proc T A 18: 32,256,336 (GRCm39) I444F probably damaging Het
Ptprn G T 1: 75,229,135 (GRCm39) H791N probably benign Het
Ror1 T C 4: 100,191,709 (GRCm39) S160P probably benign Het
Satb2 T A 1: 56,870,797 (GRCm39) probably null Het
Slc43a3 C T 2: 84,780,771 (GRCm39) A332V probably benign Het
Sp100 G A 1: 85,627,336 (GRCm39) V410M probably damaging Het
Srgap2 T C 1: 131,217,346 (GRCm39) T989A probably benign Het
Ssc5d T C 7: 4,930,283 (GRCm39) probably null Het
Tll2 A G 19: 41,116,997 (GRCm39) Y273H probably benign Het
Tub T C 7: 108,626,211 (GRCm39) V295A possibly damaging Het
Unc13b T A 4: 43,172,512 (GRCm39) D1113E unknown Het
Usp9y C A Y: 1,364,776 (GRCm39) M1012I probably benign Het
Vmn1r238 A G 18: 3,122,676 (GRCm39) V246A probably damaging Het
Vmn2r88 T G 14: 51,656,197 (GRCm39) V802G Het
Wnt7b T C 15: 85,443,175 (GRCm39) Q76R probably damaging Het
Zan T C 5: 137,389,917 (GRCm39) R4852G unknown Het
Zfp618 A T 4: 63,051,258 (GRCm39) T680S probably damaging Het
Zfp784 T A 7: 5,041,338 (GRCm39) D25V unknown 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
R9634:Cyc1 UTSW 15 76,227,794 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TAACCCTGAGGCTGCAAGAG -3'
(R):5'- TGCAGTCAATAAGCACTCCAG -3'

Sequencing Primer
(F):5'- GAGCTGCTAACAATGGAGCTTTACC -3'
(R):5'- CTCCAGACTCAGAAATATCAGGG -3'
Posted On 2022-04-18