Incidental Mutation 'IGL03074:Gcm1'
ID417613
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gcm1
Ensembl Gene ENSMUSG00000023333
Gene Nameglial cells missing homolog 1
Synonymsglide, GCMa, Gcm a, Gcm 1, Gcm1-rs1, glial cell deficient
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03074
Quality Score
Status
Chromosome9
Chromosomal Location78051924-78065624 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 78064775 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 333 (S333P)
Ref Sequence ENSEMBL: ENSMUSP00000024104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024104]
PDB Structure
STRUCTURE OF THE GCM DOMAIN BOUND TO DNA [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000024104
AA Change: S333P

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000024104
Gene: ENSMUSG00000023333
AA Change: S333P

DomainStartEndE-ValueType
Pfam:GCM 30 167 4.2e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217247
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA-binding protein with a gcm-motif (glial cell missing motif). The encoded protein is a homolog of the Drosophila glial cells missing gene (gcm). This protein binds to the GCM-motif (A/G)CCCGCAT, a novel sequence among known targets of DNA-binding proteins. The N-terminal DNA-binding domain confers the unique DNA-binding activity of this protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired branching of the chorioallantoic interface, absence of the placental labyrinth, lack of fusion of chorionic trophoblast cells, and lethality between embryonic days 5.5-10. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,310,275 Y433F probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Anks4b A T 7: 120,181,917 D57V probably damaging Het
Brwd1 A G 16: 96,011,850 V1486A probably benign Het
Cd163 A G 6: 124,317,986 T670A probably benign Het
Dmtf1 T C 5: 9,124,435 probably benign Het
Dnajc22 T A 15: 99,101,522 L196Q probably damaging Het
Dock9 A G 14: 121,607,270 L1097P possibly damaging Het
Dtna T C 18: 23,602,605 V339A possibly damaging Het
Dysf T A 6: 84,188,226 S1646T probably benign Het
Ermp1 A T 19: 29,612,535 Y893N probably damaging Het
Etv6 A T 6: 134,222,925 N76I probably damaging Het
Farp2 T C 1: 93,560,327 V92A probably benign Het
Fgf21 T C 7: 45,614,181 T158A probably benign Het
Grm7 T A 6: 111,495,643 probably null Het
Itgae T C 11: 73,125,310 F782L probably benign Het
Kbtbd8 A G 6: 95,122,352 T204A probably damaging Het
Kcp A G 6: 29,496,631 C627R probably damaging Het
Loxhd1 T C 18: 77,441,784 V2041A possibly damaging Het
Mcm5 T C 8: 75,119,301 M379T possibly damaging Het
Mcu A G 10: 59,467,758 S86P probably damaging Het
Naa25 T C 5: 121,408,337 probably null Het
Olfr1129 T A 2: 87,575,336 L84H possibly damaging Het
Olfr1472 A G 19: 13,454,053 S155P probably damaging Het
Osbpl9 T C 4: 109,071,961 H400R probably damaging Het
Pip5kl1 A G 2: 32,580,341 N278D probably damaging Het
Ppp1r12b T C 1: 134,836,020 T759A probably benign Het
Psg27 T C 7: 18,560,529 T318A probably benign Het
Rtkn2 T G 10: 68,041,721 L537R probably damaging Het
Sdr39u1 C T 14: 55,899,646 probably null Het
Slc38a1 A T 15: 96,592,524 I124N possibly damaging Het
Sumf2 T A 5: 129,859,833 probably benign Het
Thsd7a A G 6: 12,324,681 Y1464H probably damaging Het
Unc80 C T 1: 66,671,718 probably benign Het
Zfp366 A G 13: 99,246,405 D692G probably benign Het
Other mutations in Gcm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00690:Gcm1 APN 9 78065016 missense probably benign 0.09
IGL02132:Gcm1 APN 9 78064839 missense possibly damaging 0.95
IGL02820:Gcm1 APN 9 78064562 missense probably benign
PIT4280001:Gcm1 UTSW 9 78059633 missense probably damaging 1.00
R0720:Gcm1 UTSW 9 78064641 missense possibly damaging 0.68
R1271:Gcm1 UTSW 9 78059577 missense probably benign 0.05
R1421:Gcm1 UTSW 9 78059700 missense probably damaging 1.00
R1481:Gcm1 UTSW 9 78059717 nonsense probably null
R1884:Gcm1 UTSW 9 78059579 missense probably benign 0.01
R1907:Gcm1 UTSW 9 78064773 missense probably benign 0.00
R2029:Gcm1 UTSW 9 78065044 missense possibly damaging 0.70
R2160:Gcm1 UTSW 9 78061380 missense probably benign 0.05
R3103:Gcm1 UTSW 9 78064452 missense probably damaging 0.98
R3944:Gcm1 UTSW 9 78059816 nonsense probably null
R5292:Gcm1 UTSW 9 78061426 missense probably damaging 1.00
R5769:Gcm1 UTSW 9 78064967 missense probably benign
R6446:Gcm1 UTSW 9 78059783 missense probably benign 0.08
R6465:Gcm1 UTSW 9 78064869 missense probably damaging 0.99
R7114:Gcm1 UTSW 9 78059779 missense probably damaging 1.00
R7212:Gcm1 UTSW 9 78059643 missense possibly damaging 0.84
R7398:Gcm1 UTSW 9 78064679 missense probably benign 0.00
R7584:Gcm1 UTSW 9 78064467 missense possibly damaging 0.62
R8130:Gcm1 UTSW 9 78064534 missense probably benign 0.01
Posted On2016-08-02