Incidental Mutation 'IGL02820:Gcm1'
ID360978
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 #IGL02820
Quality Score
Status
Chromosome9
Chromosomal Location78051924-78065624 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 78064562 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 262 (F262L)
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 probably benign
Transcript: ENSMUST00000024104
AA Change: F262L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024104
Gene: ENSMUSG00000023333
AA Change: F262L

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik T C 12: 24,074,416 Y86C probably benign Het
Adgra2 G A 8: 27,117,507 V47M probably damaging Het
Anks1b T C 10: 90,077,059 C349R possibly damaging Het
Anks4b A T 7: 120,182,691 probably benign Het
Apobec2 A G 17: 48,423,267 S124P probably damaging Het
Brd8 G A 18: 34,607,301 S493L probably benign Het
Cbln3 A G 14: 55,883,487 Y126H probably damaging Het
Ccdc138 T C 10: 58,528,899 probably benign Het
Cckbr C T 7: 105,434,031 A147V probably damaging Het
Ceacam2 T A 7: 25,519,986 H283L probably damaging Het
Clasp1 A G 1: 118,551,104 D718G possibly damaging Het
Clmn A T 12: 104,773,234 Y979N probably damaging Het
Ddias T C 7: 92,859,343 T455A probably benign Het
Dennd5b T C 6: 149,019,342 R851G probably null Het
Dock1 T C 7: 135,167,215 V1771A probably benign Het
Dysf T A 6: 84,100,205 L694Q probably damaging Het
Faim2 T C 15: 99,521,257 Y77C probably benign Het
Fbxw22 A T 9: 109,386,664 I172N probably damaging Het
Fhad1 C T 4: 141,918,758 D298N probably benign Het
Fyb T G 15: 6,658,559 V800G possibly damaging Het
Gm21983 T C 7: 27,180,180 M121V probably benign Het
Gm9996 A T 10: 29,143,661 probably benign Het
Gstm3 A T 3: 107,968,758 probably benign Het
Gsto2 G T 19: 47,874,959 E91D probably damaging Het
Hs6st3 G T 14: 119,139,080 M222I possibly damaging Het
Ighv3-6 T C 12: 114,288,230 D90G probably damaging Het
Itgb1bp1 C T 12: 21,276,853 A40T possibly damaging Het
Kcns3 C T 12: 11,091,871 E276K probably benign Het
Lamc3 C T 2: 31,923,022 R1007C probably damaging Het
Lnx2 A T 5: 147,042,067 M125K probably damaging Het
Lyst T A 13: 13,638,058 N1018K probably benign Het
Mctp2 T A 7: 72,245,542 S186C probably damaging Het
Mettl7a1 C A 15: 100,305,052 S51* probably null Het
Olfr352 A T 2: 36,869,859 T98S probably benign Het
Polg T C 7: 79,459,771 T433A possibly damaging Het
Rdh13 C T 7: 4,435,060 V127M probably damaging Het
Rdh16 A G 10: 127,813,601 T309A probably benign Het
Reep5 A T 18: 34,373,259 D21E probably benign Het
Rptn A T 3: 93,396,920 N520I probably benign Het
Rttn T C 18: 89,028,998 L928P probably damaging Het
Slc44a2 A G 9: 21,342,977 I212V probably benign Het
Snupn A G 9: 56,963,048 T71A probably benign Het
Ssu2 T C 6: 112,382,392 N89S probably benign Het
Thsd7a A G 6: 12,321,072 S1535P probably damaging Het
Uba7 A T 9: 107,981,516 S849C probably benign Het
Vmn2r80 A G 10: 79,171,605 T472A probably benign Het
Wdr6 A G 9: 108,578,544 I17T probably benign Het
Wdr66 A G 5: 123,254,636 probably benign Het
Xkr9 G A 1: 13,700,949 V230I 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
IGL03074:Gcm1 APN 9 78064775 missense possibly damaging 0.84
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 On2015-12-18