Incidental Mutation 'IGL02733:Gypc'
ID305567
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gypc
Ensembl Gene ENSMUSG00000090523
Gene Nameglycophorin C
Synonyms0610037F22Rik, Gerbich antigen, Cd236r
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL02733
Quality Score
Status
Chromosome18
Chromosomal Location32528322-32560034 bp(-) (GRCm38)
Type of Mutationutr 5 prime
DNA Base Change (assembly) T to C at 32559826 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000174000] [ENSMUST00000174459]
Predicted Effect probably benign
Transcript: ENSMUST00000174000
SMART Domains Protein: ENSMUSP00000133874
Gene: ENSMUSG00000090523

DomainStartEndE-ValueType
4.1m 30 48 1.55e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174459
SMART Domains Protein: ENSMUSP00000134317
Gene: ENSMUSG00000090523

DomainStartEndE-ValueType
low complexity region 26 44 N/A INTRINSIC
4.1m 47 65 1.55e-5 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat1 T A 4: 49,447,793 T245S probably benign Het
Agl T C 3: 116,780,997 I718V probably benign Het
Cbs T A 17: 31,625,031 N209Y probably benign Het
Cd163 T C 6: 124,325,341 C955R probably damaging Het
Dnajb3 A G 1: 88,204,940 probably benign Het
Dopey2 G A 16: 93,739,191 R59Q possibly damaging Het
Dtx1 A G 5: 120,681,435 L566P probably damaging Het
Fam198a A G 9: 121,965,028 R83G probably benign Het
Fgf14 G T 14: 123,983,801 P197Q probably damaging Het
Gcc1 G A 6: 28,420,662 Q66* probably null Het
Helz2 G A 2: 181,235,026 A1225V probably benign Het
Herc1 A G 9: 66,450,992 T2452A probably benign Het
Hoxc4 A G 15: 103,034,726 I2V probably benign Het
Impa1 A G 3: 10,328,965 I14T probably benign Het
Itih1 T A 14: 30,936,720 D400V probably damaging Het
Lama3 T C 18: 12,578,127 Y3206H probably damaging Het
Lce1k T A 3: 92,806,885 probably benign Het
Mcpt4 C T 14: 56,060,667 M142I probably benign Het
Myo15b A G 11: 115,884,250 E2168G probably benign Het
Myom3 G T 4: 135,814,303 E1402* probably null Het
Nfyb G T 10: 82,755,033 Q55K probably damaging Het
Nobox T C 6: 43,307,202 K137E possibly damaging Het
Pnlip T A 19: 58,680,788 D406E probably benign Het
Pole A T 5: 110,312,728 probably benign Het
Ppp2r2b T C 18: 42,648,728 Y336C possibly damaging Het
Prkg1 T C 19: 31,302,301 T178A probably damaging Het
Prr11 C T 11: 87,103,545 A92T possibly damaging Het
Racgap1 G T 15: 99,639,704 S67R probably damaging Het
Scn10a G A 9: 119,616,705 P1462S probably damaging Het
Sptbn1 T C 11: 30,197,747 E29G probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Vmn2r72 T A 7: 85,751,813 T133S probably benign Het
Zbtb20 A G 16: 43,609,933 H269R possibly damaging Het
Zwilch A T 9: 64,146,836 N526K probably benign Het
Other mutations in Gypc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02590:Gypc APN 18 32530007 makesense probably null
R6019:Gypc UTSW 18 32530195 missense probably damaging 0.99
X0054:Gypc UTSW 18 32530010 missense probably damaging 1.00
Posted On2015-04-16