Incidental Mutation 'R7506:Cyc1'
ID 581818
Institutional Source Beutler Lab
Gene Symbol Cyc1
Ensembl Gene ENSMUSG00000022551
Gene Name cytochrome c-1
Synonyms Cyct1, 2610002H19Rik
MMRRC Submission 045579-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R7506 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 76227723-76230460 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 76227885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 41 (T41K)
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: T41K

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000023210
Gene: ENSMUSG00000022551
AA Change: T41K

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: T41K
Predicted Effect probably benign
Transcript: ENSMUST00000230314
Predicted Effect probably benign
Transcript: ENSMUST00000230706
Predicted Effect probably benign
Transcript: ENSMUST00000231045
Meta Mutation Damage Score 0.0713 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (58/59)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik C T 9: 15,209,202 (GRCm39) V31I probably benign Het
4933430I17Rik T C 4: 62,450,498 (GRCm39) V24A possibly damaging Het
Adamtsl3 A T 7: 82,164,186 (GRCm39) R334W probably damaging Het
Aox1 G A 1: 58,088,562 (GRCm39) C116Y probably damaging Het
B3gntl1 A T 11: 121,561,740 (GRCm39) I74N probably damaging Het
Bicra C T 7: 15,722,138 (GRCm39) V460M possibly damaging Het
Ccdc18 G A 5: 108,311,605 (GRCm39) C437Y possibly damaging Het
Cdh6 A G 15: 13,034,396 (GRCm39) S755P probably damaging Het
Crtc2 G T 3: 90,166,519 (GRCm39) A165S probably damaging Het
Cwf19l2 C T 9: 3,456,775 (GRCm39) H703Y probably damaging Het
Defb28 A T 2: 152,360,221 (GRCm39) H12L possibly damaging Het
Dsg3 T A 18: 20,666,521 (GRCm39) C577S probably benign Het
Ggt6 G T 11: 72,328,724 (GRCm39) C408F possibly damaging Het
Gm3278 T A 14: 16,080,479 (GRCm39) Y97N probably damaging Het
Gpr155 A G 2: 73,198,683 (GRCm39) L412P probably damaging Het
Gucd1 T C 10: 75,347,019 (GRCm39) H77R probably benign Het
H2bc8 G A 13: 23,755,658 (GRCm39) A18T unknown Het
Hat1 T A 2: 71,250,691 (GRCm39) I158N probably damaging Het
Hhla1 C T 15: 65,808,231 (GRCm39) W271* probably null Het
Igsf10 T A 3: 59,226,775 (GRCm39) L2299F probably damaging Het
Iqsec1 A G 6: 90,644,891 (GRCm39) S914P probably damaging Het
Iqsec1 G T 6: 90,639,788 (GRCm39) H983Q possibly damaging Het
Irx2 G T 13: 72,777,328 (GRCm39) G50C probably damaging Het
Kif26b T C 1: 178,357,064 (GRCm39) probably benign Het
Lmo7 A G 14: 102,157,045 (GRCm39) E1405G unknown Het
Mdm2 T C 10: 117,526,596 (GRCm39) D330G possibly damaging Het
Mgat5 A C 1: 127,294,192 (GRCm39) D178A probably benign Het
Mier2 C A 10: 79,386,176 (GRCm39) R25L probably benign Het
Mlip T C 9: 77,072,085 (GRCm39) K257E probably damaging Het
Mtfr2 T C 10: 20,229,131 (GRCm39) S80P probably benign Het
Ndst2 A G 14: 20,780,153 (GRCm39) V29A probably benign Het
Negr1 T G 3: 156,774,870 (GRCm39) Y195* probably null Het
Nptn T C 9: 58,526,156 (GRCm39) L101P probably damaging Het
Nrip1 G A 16: 76,091,347 (GRCm39) T70I probably damaging Het
Nrtn C T 17: 57,058,633 (GRCm39) V123M probably damaging Het
Onecut1 T A 9: 74,770,522 (GRCm39) F315Y possibly damaging Het
Or1p1 A T 11: 74,179,949 (GRCm39) H159L possibly damaging Het
P4htm A G 9: 108,460,878 (GRCm39) L198S probably damaging Het
Pappa A C 4: 65,149,419 (GRCm39) I920L probably benign Het
Pcdhgb5 A C 18: 37,865,525 (GRCm39) D440A probably damaging Het
Ppard A T 17: 28,517,735 (GRCm39) N268Y possibly damaging Het
Rapgef6 T A 11: 54,526,997 (GRCm39) S563T probably benign Het
Rtn3 T A 19: 7,407,118 (GRCm39) E949D probably benign Het
Sf3a1 T C 11: 4,127,561 (GRCm39) M629T probably benign Het
Slc39a8 T C 3: 135,590,067 (GRCm39) I319T probably benign Het
Sorcs1 C T 19: 50,171,112 (GRCm39) W925* probably null Het
Spag9 G A 11: 93,999,290 (GRCm39) D1069N probably damaging Het
Taar7a A G 10: 23,868,892 (GRCm39) V163A possibly damaging Het
Tmem150a G A 6: 72,333,753 (GRCm39) probably null Het
Tnxb G A 17: 34,934,665 (GRCm39) V2425I possibly damaging Het
Tppp2 A G 14: 52,158,058 (GRCm39) K168E possibly damaging Het
Ttn T A 2: 76,719,812 (GRCm39) D7099V unknown Het
Vmn1r41 A T 6: 89,724,159 (GRCm39) R50* probably null Het
Vmn1r60 T C 7: 5,547,861 (GRCm39) K80E Het
Vmn2r18 A G 5: 151,508,485 (GRCm39) F213S possibly damaging Het
Vmn2r26 G A 6: 124,016,700 (GRCm39) S388N probably benign Het
Vmn2r63 A T 7: 42,576,391 (GRCm39) F474Y probably damaging Het
Zc3hav1 G A 6: 38,309,875 (GRCm39) R316* probably null Het
Zfp654 A T 16: 64,612,211 (GRCm39) I225N probably damaging Het
Zfp97 A G 17: 17,365,542 (GRCm39) E347G 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
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
R9634:Cyc1 UTSW 15 76,227,794 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACAGTCCTGGTCCACTGATG -3'
(R):5'- GCCTAAGTGACCCAGAGTAC -3'

Sequencing Primer
(F):5'- TGATGGACAGCTCCCTACC -3'
(R):5'- CTAAGTGACCCAGAGTACTGCAG -3'
Posted On 2019-10-17