Incidental Mutation 'R7331:Cycs'
ID 569234
Institutional Source Beutler Lab
Gene Symbol Cycs
Ensembl Gene ENSMUSG00000063694
Gene Name cytochrome c, somatic
Synonyms
MMRRC Submission 045424-MU
Accession Numbers
Essential gene? Not available question?
Stock # R7331 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 50539543-50543518 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50542532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 37 (F37L)
Ref Sequence ENSEMBL: ENSMUSP00000124523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161401]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000161401
AA Change: F37L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000124523
Gene: ENSMUSG00000063694
AA Change: F37L

DomainStartEndE-ValueType
Pfam:Cytochrom_C 4 103 6.4e-16 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small heme protein that functions as a central component of the electron transport chain in mitochondria. The encoded protein associates with the inner membrane of the mitochondrion where it accepts electrons from cytochrome b and transfers them to the cytochrome oxidase complex. This protein is also involved in initiation of apoptosis. Mutations in this gene are associated with autosomal dominant nonsyndromic thrombocytopenia. Numerous processed pseudogenes of this gene are found throughout the human genome.[provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a targeted mutation die at midgestation. By E8.5, homozygous null embryos exhibit a strikingly reduced size and are developmentally retarded. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,331,728 (GRCm39) H47L possibly damaging Het
Adgrf5 T C 17: 43,748,484 (GRCm39) S438P probably damaging Het
Atg16l2 C A 7: 100,948,255 (GRCm39) K96N probably damaging Het
Bglap2 A T 3: 88,285,567 (GRCm39) M35K possibly damaging Het
Btbd1 T A 7: 81,465,720 (GRCm39) I209L probably damaging Het
Cdc34 T C 10: 79,521,146 (GRCm39) Y148H probably damaging Het
Clcc1 A G 3: 108,575,394 (GRCm39) D157G probably damaging Het
Csmd2 A T 4: 128,458,021 (GRCm39) probably null Het
Ctsj G A 13: 61,151,645 (GRCm39) S90L probably benign Het
Dync2li1 T A 17: 84,955,086 (GRCm39) C248* probably null Het
Dzank1 A T 2: 144,332,190 (GRCm39) I382N probably benign Het
Eif4a3l2 G A 6: 116,529,130 (GRCm39) V336I probably benign Het
Enpp2 T C 15: 54,739,066 (GRCm39) I406V probably damaging Het
Ero1b A G 13: 12,615,015 (GRCm39) E282G probably damaging Het
Fastkd5 A T 2: 130,457,647 (GRCm39) N314K possibly damaging Het
Fbh1 A T 2: 11,768,797 (GRCm39) C300S probably benign Het
Fchsd1 T C 18: 38,101,823 (GRCm39) I49V possibly damaging Het
Foxn1 A G 11: 78,249,615 (GRCm39) Y637H probably damaging Het
Gabarap A G 11: 69,885,298 (GRCm39) E101G possibly damaging Het
Gm7247 A G 14: 51,601,792 (GRCm39) R22G probably damaging Het
Gm7694 A T 1: 170,129,180 (GRCm39) D116E possibly damaging Het
Gm9508 A G 10: 77,532,629 (GRCm39) C147R unknown Het
Gpr152 A G 19: 4,192,608 (GRCm39) M50V probably damaging Het
Hunk T A 16: 90,269,450 (GRCm39) N331K possibly damaging Het
Il1r2 A G 1: 40,162,409 (GRCm39) T351A probably benign Het
Iqub A G 6: 24,500,393 (GRCm39) V287A possibly damaging Het
Lix1 A T 17: 17,647,474 (GRCm39) T47S probably benign Het
Lrp1b A T 2: 40,553,622 (GRCm39) probably null Het
Nup107 G A 10: 117,606,103 (GRCm39) T500I probably damaging Het
Phf21b G C 15: 84,675,295 (GRCm39) R405G probably benign Het
Piezo2 A G 18: 63,241,101 (GRCm39) V709A probably damaging Het
Psme3ip1 T A 8: 95,309,564 (GRCm39) K143* probably null Het
Rfc1 T C 5: 65,468,387 (GRCm39) T109A probably damaging Het
Rpa1 A G 11: 75,203,941 (GRCm39) V302A probably damaging Het
Ryr2 A G 13: 11,760,517 (GRCm39) I1522T probably benign Het
Ryr3 C A 2: 112,594,010 (GRCm39) R2578L possibly damaging Het
Scgb2b18 C T 7: 32,872,681 (GRCm39) W41* probably null Het
Sdccag8 C G 1: 176,695,856 (GRCm39) Q387E possibly damaging Het
Slc25a17 G A 15: 81,213,346 (GRCm39) T119M probably damaging Het
Slc45a4 G T 15: 73,477,489 (GRCm39) Q16K probably benign Het
Slc4a1 G A 11: 102,252,245 (GRCm39) probably benign Het
Slc7a14 T C 3: 31,311,880 (GRCm39) T47A probably benign Het
Stard6 A G 18: 70,616,553 (GRCm39) R71G probably damaging Het
Tecr A G 8: 84,298,564 (GRCm39) V321A probably damaging Het
Ttc3 T A 16: 94,195,218 (GRCm39) F290L probably benign Het
Uqcc1 A G 2: 155,753,731 (GRCm39) V48A probably benign Het
V1rd19 T A 7: 23,703,308 (GRCm39) I258N probably damaging Het
Zar1 T A 5: 72,737,655 (GRCm39) E249V possibly damaging Het
Zfp101 T C 17: 33,601,559 (GRCm39) T66A possibly damaging Het
Zyx A G 6: 42,328,593 (GRCm39) H230R probably benign Het
Other mutations in Cycs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00975:Cycs APN 6 50,542,347 (GRCm39) missense probably benign 0.01
R1854:Cycs UTSW 6 50,542,309 (GRCm39) missense possibly damaging 0.85
R6622:Cycs UTSW 6 50,543,443 (GRCm39) start gained probably benign
R9236:Cycs UTSW 6 50,543,507 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TCCAAATACTCCATCAGGGTATCC -3'
(R):5'- CTGCCTGGTGTTAAGAGGAC -3'

Sequencing Primer
(F):5'- GGTATCCTCTCCCCAGGTGATG -3'
(R):5'- CTGCCTGGTGTTAAGAGGACATAAG -3'
Posted On 2019-09-13