Incidental Mutation 'R3103:Gcm1'
ID 262908
Institutional Source Beutler Lab
Gene Symbol Gcm1
Ensembl Gene ENSMUSG00000023333
Gene Name glial cells missing homolog 1
Synonyms glial cell deficient, Gcm 1, Gcm a, GCMa, glide, Gcm1-rs1
MMRRC Submission 040577-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3103 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 77959240-77972906 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77971734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 225 (N225S)
Ref Sequence ENSEMBL: ENSMUSP00000024104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024104]
AlphaFold P70348
PDB Structure STRUCTURE OF THE GCM DOMAIN BOUND TO DNA [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000024104
AA Change: N225S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024104
Gene: ENSMUSG00000023333
AA Change: N225S

DomainStartEndE-ValueType
Pfam:GCM 30 167 4.2e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217247
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 A G 7: 28,310,409 (GRCm39) probably null Het
Adap2 G T 11: 80,047,859 (GRCm39) C105F probably damaging Het
Bace2 T C 16: 97,223,201 (GRCm39) probably null Het
Bpifc A G 10: 85,829,286 (GRCm39) S94P probably damaging Het
C2cd3 A G 7: 100,044,459 (GRCm39) D347G possibly damaging Het
Cad T C 5: 31,219,018 (GRCm39) V613A possibly damaging Het
Ccdc47 T C 11: 106,093,667 (GRCm39) H6R probably benign Het
Celsr3 A G 9: 108,714,338 (GRCm39) T1956A probably benign Het
Cep128 T A 12: 90,986,118 (GRCm39) D1006V probably damaging Het
Cog3 T C 14: 75,984,641 (GRCm39) probably null Het
Csmd1 C T 8: 15,967,405 (GRCm39) V3153M probably damaging Het
Ctnna2 T C 6: 77,630,127 (GRCm39) E122G possibly damaging Het
Cts8 T A 13: 61,398,772 (GRCm39) I245F probably damaging Het
Ddx27 T A 2: 166,868,166 (GRCm39) V333E probably damaging Het
Dmpk A G 7: 18,821,579 (GRCm39) Y279C probably damaging Het
Dpagt1 A G 9: 44,239,292 (GRCm39) I111V probably benign Het
Dvl2 C A 11: 69,899,695 (GRCm39) P546T possibly damaging Het
Fat4 G T 3: 38,946,089 (GRCm39) A1661S probably benign Het
Gcnt2 A T 13: 41,072,082 (GRCm39) M242L probably benign Het
Golgb1 A G 16: 36,715,211 (GRCm39) R226G probably damaging Het
Gpr63 G A 4: 25,007,353 (GRCm39) V26I probably benign Het
Grik2 A G 10: 49,116,868 (GRCm39) L631P probably damaging Het
Hapln3 T C 7: 78,771,484 (GRCm39) D135G probably benign Het
Il31ra C A 13: 112,666,885 (GRCm39) V398F probably damaging Het
Ipp G T 4: 116,381,446 (GRCm39) R315L possibly damaging Het
Kcmf1 A G 6: 72,838,830 (GRCm39) L32P probably damaging Het
Klf17 T A 4: 117,617,805 (GRCm39) Q184L possibly damaging Het
Lrp2 C T 2: 69,262,328 (GRCm39) V4442I probably benign Het
Lrrfip2 A T 9: 111,051,278 (GRCm39) E293D probably damaging Het
Oit3 A G 10: 59,274,713 (GRCm39) I29T probably damaging Het
Or1a1 G A 11: 74,086,901 (GRCm39) D191N probably benign Het
Or1j21 T C 2: 36,683,574 (GRCm39) C109R possibly damaging Het
Or51h1 T C 7: 102,308,688 (GRCm39) V220A probably benign Het
Plb1 T A 5: 32,485,373 (GRCm39) M842K possibly damaging Het
Ppt1 T C 4: 122,730,100 (GRCm39) C18R probably benign Het
Pstpip2 T C 18: 77,959,477 (GRCm39) Y191H probably damaging Het
Ryr1 C T 7: 28,774,373 (GRCm39) V2361I probably damaging Het
Serpinb11 A G 1: 107,305,338 (GRCm39) N238S probably benign Het
Skor2 A T 18: 76,946,973 (GRCm39) K232* probably null Het
Slc13a5 A T 11: 72,148,214 (GRCm39) W231R probably damaging Het
Svs5 A T 2: 164,175,313 (GRCm39) E55V probably benign Het
Tfcp2 A T 15: 100,423,481 (GRCm39) W142R probably damaging Het
Trpc2 A T 7: 101,744,441 (GRCm39) I738F possibly damaging Het
Vmn2r61 T A 7: 41,916,067 (GRCm39) S227T possibly damaging Het
Zfhx4 A G 3: 5,464,386 (GRCm39) T1540A probably damaging Het
Zfp616 A G 11: 73,962,561 (GRCm39) T74A probably benign Het
Other mutations in Gcm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00690:Gcm1 APN 9 77,972,298 (GRCm39) missense probably benign 0.09
IGL02132:Gcm1 APN 9 77,972,121 (GRCm39) missense possibly damaging 0.95
IGL02820:Gcm1 APN 9 77,971,844 (GRCm39) missense probably benign
IGL03074:Gcm1 APN 9 77,972,057 (GRCm39) missense possibly damaging 0.84
PIT4280001:Gcm1 UTSW 9 77,966,915 (GRCm39) missense probably damaging 1.00
R0720:Gcm1 UTSW 9 77,971,923 (GRCm39) missense possibly damaging 0.68
R1271:Gcm1 UTSW 9 77,966,859 (GRCm39) missense probably benign 0.05
R1421:Gcm1 UTSW 9 77,966,982 (GRCm39) missense probably damaging 1.00
R1481:Gcm1 UTSW 9 77,966,999 (GRCm39) nonsense probably null
R1884:Gcm1 UTSW 9 77,966,861 (GRCm39) missense probably benign 0.01
R1907:Gcm1 UTSW 9 77,972,055 (GRCm39) missense probably benign 0.00
R2029:Gcm1 UTSW 9 77,972,326 (GRCm39) missense possibly damaging 0.70
R2160:Gcm1 UTSW 9 77,968,662 (GRCm39) missense probably benign 0.05
R3944:Gcm1 UTSW 9 77,967,098 (GRCm39) nonsense probably null
R5292:Gcm1 UTSW 9 77,968,708 (GRCm39) missense probably damaging 1.00
R5769:Gcm1 UTSW 9 77,972,249 (GRCm39) missense probably benign
R6446:Gcm1 UTSW 9 77,967,065 (GRCm39) missense probably benign 0.08
R6465:Gcm1 UTSW 9 77,972,151 (GRCm39) missense probably damaging 0.99
R7114:Gcm1 UTSW 9 77,967,061 (GRCm39) missense probably damaging 1.00
R7212:Gcm1 UTSW 9 77,966,925 (GRCm39) missense possibly damaging 0.84
R7398:Gcm1 UTSW 9 77,971,961 (GRCm39) missense probably benign 0.00
R7584:Gcm1 UTSW 9 77,971,749 (GRCm39) missense possibly damaging 0.62
R8130:Gcm1 UTSW 9 77,971,816 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGCAGAATAACTCAGGGGTGC -3'
(R):5'- AAGTTTGCAGGTCTTCGTAGTCTC -3'

Sequencing Primer
(F):5'- TGCCTGGGGTAGCCATG -3'
(R):5'- TAGTCTCCATACGTCCCAGGG -3'
Posted On 2015-02-05