Incidental Mutation 'R5601:Hccs'
ID439051
Institutional Source Beutler Lab
Gene Symbol Hccs
Ensembl Gene ENSMUSG00000031352
Gene Nameholocytochrome c synthetase
Synonyms
MMRRC Submission 043153-MU
Accession Numbers
Is this an essential gene? Not available question?
Stock #R5601 (G1)
Quality Score217
Status Not validated
ChromosomeX
Chromosomal Location169250193-169320372 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 169313601 bp
ZygosityHeterozygous
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]
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: 91,782,910 V426I probably benign Het
Asmt T C X: 170,676,392 V212A probably damaging Het
Atn1 A G 6: 124,743,228 probably null Het
Auts2 G T 5: 131,476,823 probably benign Het
AW551984 C T 9: 39,591,267 V672M possibly damaging Het
Ccdc13 G A 9: 121,800,572 Q114* probably null Het
Ces2e A T 8: 104,929,494 I146F probably benign Het
Cfap44 A G 16: 44,460,186 K1443E probably damaging Het
Cma2 T A 14: 55,973,789 H179Q possibly damaging Het
Cpsf2 G T 12: 101,985,355 probably null Het
Cwh43 A G 5: 73,417,940 probably null Het
Dnajb12 GC G 10: 59,892,752 probably null Het
Dram1 A G 10: 88,324,767 S231P probably damaging Het
Fbxw7 A G 3: 84,976,208 D482G probably damaging Het
Fstl1 T C 16: 37,826,799 I177T probably benign Het
Fut9 T C 4: 25,620,299 T172A probably benign Het
Gm10436 T C 12: 88,176,047 D267G probably damaging Het
Gm5134 G A 10: 75,985,952 V207M probably damaging Het
Hmgxb3 A T 18: 61,137,622 F877I probably damaging Het
Ide A G 19: 37,314,980 V272A unknown Het
Impact C T 18: 12,976,007 T65I probably benign Het
Lgr6 C T 1: 134,994,010 A199T probably damaging Het
Muc3 A G 5: 137,138,015 S309P probably damaging Het
Myf6 A C 10: 107,494,614 S31A probably damaging Het
Olfr733 C A 14: 50,298,861 W149C probably damaging Het
Olfr881 C G 9: 37,992,714 T74R possibly damaging Het
P4hb T A 11: 120,571,615 E88D possibly damaging Het
Pcdhb9 T C 18: 37,402,206 C418R probably damaging Het
Prdm4 TCTCCTCCT TCTCCT 10: 85,893,123 probably null Het
Prss58 A T 6: 40,897,849 N19K possibly damaging Het
Ptprq C T 10: 107,608,430 A1438T probably benign Het
Rfx4 A T 10: 84,798,578 T61S probably damaging Het
Sclt1 T A 3: 41,730,919 N35Y probably benign Het
Sec24b CTG CTGGTG 3: 130,040,834 probably benign Het
Serpinb12 T C 1: 106,953,697 I188T probably damaging Het
Slc27a4 A T 2: 29,805,660 Y69F probably benign Het
Slc3a1 T C 17: 85,032,891 V247A probably benign Het
Slc4a2 C T 5: 24,438,774 T854I probably benign Het
Stat5b G A 11: 100,783,175 T761M probably damaging Het
Stkld1 T C 2: 26,952,705 L563P probably damaging Het
Tbc1d23 C A 16: 57,198,309 C283F probably benign Het
Tcaf3 T C 6: 42,587,528 N900S possibly damaging Het
Tkfc T C 19: 10,594,563 T370A probably benign Het
Tpr T C 1: 150,435,853 V1868A possibly damaging Het
Triobp T A 15: 78,973,633 W1145R probably damaging Het
Uhrf1bp1 C A 17: 27,884,494 A392D probably damaging Het
Vmn2r82 T G 10: 79,396,191 L675V probably damaging Het
Zfp423 T C 8: 87,782,009 E444G probably damaging Het
Other mutations in Hccs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02642:Hccs APN X 169315592 splice site probably benign
Z1088:Hccs UTSW X 169313612 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 On2016-10-26