Incidental Mutation 'R5601:Hccs'
ID 439051
Institutional Source Beutler Lab
Gene Symbol Hccs
Ensembl Gene ENSMUSG00000031352
Gene Name holocytochrome c synthetase
Synonyms
MMRRC Submission 043153-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5601 (G1)
Quality Score 217
Status Not validated
Chromosome X
Chromosomal Location 168094526-168103361 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 168096597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 203 (R203C)
Ref Sequence ENSEMBL: ENSMUSP00000107743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033717] [ENSMUST00000112115] [ENSMUST00000154638]
AlphaFold P53702
Predicted Effect probably damaging
Transcript: ENSMUST00000033717
AA Change: R203C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000033717
Gene: ENSMUSG00000031352
AA Change: R203C

DomainStartEndE-ValueType
Pfam:Cyto_heme_lyase 1 266 4.8e-93 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112115
AA Change: R203C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107743
Gene: ENSMUSG00000031352
AA Change: R203C

DomainStartEndE-ValueType
Pfam:Cyto_heme_lyase 1 266 4.8e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154638
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygous female or hemizygous males for a conditional allele activated in the heart exhibit fetal lethality associated with abnormal fetal cardiomyocyte morphology and physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 G A 13: 91,931,029 (GRCm39) V426I probably benign Het
Asmt T C X: 169,110,127 (GRCm39) V212A probably damaging Het
Atn1 A G 6: 124,720,191 (GRCm39) probably null Het
Auts2 G T 5: 131,505,662 (GRCm39) probably benign Het
AW551984 C T 9: 39,502,563 (GRCm39) V672M possibly damaging Het
Bltp3a C A 17: 28,103,468 (GRCm39) A392D probably damaging Het
Ccdc13 G A 9: 121,629,638 (GRCm39) Q114* probably null Het
Ces2e A T 8: 105,656,126 (GRCm39) I146F probably benign Het
Cfap44 A G 16: 44,280,549 (GRCm39) K1443E probably damaging Het
Cma2 T A 14: 56,211,246 (GRCm39) H179Q possibly damaging Het
Cpsf2 G T 12: 101,951,614 (GRCm39) probably null Het
Cwh43 A G 5: 73,575,283 (GRCm39) probably null Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Dram1 A G 10: 88,160,629 (GRCm39) S231P probably damaging Het
Fbxw7 A G 3: 84,883,515 (GRCm39) D482G probably damaging Het
Fstl1 T C 16: 37,647,161 (GRCm39) I177T probably benign Het
Fut9 T C 4: 25,620,299 (GRCm39) T172A probably benign Het
Gm5134 G A 10: 75,821,786 (GRCm39) V207M probably damaging Het
Hmgxb3 A T 18: 61,270,694 (GRCm39) F877I probably damaging Het
Ide A G 19: 37,292,379 (GRCm39) V272A unknown Het
Impact C T 18: 13,109,064 (GRCm39) T65I probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Muc17 A G 5: 137,166,863 (GRCm39) S309P probably damaging Het
Myf6 A C 10: 107,330,475 (GRCm39) S31A probably damaging Het
Or4n4b C A 14: 50,536,318 (GRCm39) W149C probably damaging Het
Or8b35 C G 9: 37,904,010 (GRCm39) T74R possibly damaging Het
P4hb T A 11: 120,462,441 (GRCm39) E88D possibly damaging Het
Pcdhb9 T C 18: 37,535,259 (GRCm39) C418R probably damaging Het
Pramel51 T C 12: 88,142,817 (GRCm39) D267G probably damaging Het
Prdm4 TCTCCTCCT TCTCCT 10: 85,728,987 (GRCm39) probably null Het
Prss58 A T 6: 40,874,783 (GRCm39) N19K possibly damaging Het
Ptprq C T 10: 107,444,291 (GRCm39) A1438T probably benign Het
Rfx4 A T 10: 84,634,442 (GRCm39) T61S probably damaging Het
Sclt1 T A 3: 41,685,354 (GRCm39) N35Y probably benign Het
Sec24b CTG CTGGTG 3: 129,834,483 (GRCm39) probably benign Het
Serpinb12 T C 1: 106,881,427 (GRCm39) I188T probably damaging Het
Slc27a4 A T 2: 29,695,672 (GRCm39) Y69F probably benign Het
Slc3a1 T C 17: 85,340,319 (GRCm39) V247A probably benign Het
Slc4a2 C T 5: 24,643,772 (GRCm39) T854I probably benign Het
Stat5b G A 11: 100,674,001 (GRCm39) T761M probably damaging Het
Stkld1 T C 2: 26,842,717 (GRCm39) L563P probably damaging Het
Tbc1d23 C A 16: 57,018,672 (GRCm39) C283F probably benign Het
Tcaf3 T C 6: 42,564,462 (GRCm39) N900S possibly damaging Het
Tkfc T C 19: 10,571,927 (GRCm39) T370A probably benign Het
Tpr T C 1: 150,311,604 (GRCm39) V1868A possibly damaging Het
Triobp T A 15: 78,857,833 (GRCm39) W1145R probably damaging Het
Vmn2r82 T G 10: 79,232,025 (GRCm39) L675V probably damaging Het
Zfp423 T C 8: 88,508,637 (GRCm39) E444G probably damaging Het
Other mutations in Hccs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02642:Hccs APN X 168,098,588 (GRCm39) splice site probably benign
Z1088:Hccs UTSW X 168,096,608 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCAGAGTGAAGCATGAAACC -3'
(R):5'- TGCTTCCTGAATCTGGCAAG -3'

Sequencing Primer
(F):5'- GCAACCCAACCTTTATAATTCTGC -3'
(R):5'- GCTTCCTGAATCTGGCAAGAAAGC -3'
Posted On 2016-10-26