Incidental Mutation 'IGL02614:Gmnn'
ID 300609
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gmnn
Ensembl Gene ENSMUSG00000006715
Gene Name geminin
Synonyms Gem
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02614
Quality Score
Status
Chromosome 13
Chromosomal Location 24935828-24945906 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 24944137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006898] [ENSMUST00000110382] [ENSMUST00000175689] [ENSMUST00000176890] [ENSMUST00000177253]
AlphaFold O88513
Predicted Effect probably benign
Transcript: ENSMUST00000006898
SMART Domains Protein: ENSMUSP00000006898
Gene: ENSMUSG00000006715

DomainStartEndE-ValueType
Pfam:Geminin 1 187 1.4e-91 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110382
SMART Domains Protein: ENSMUSP00000106011
Gene: ENSMUSG00000006715

DomainStartEndE-ValueType
Pfam:Geminin 1 186 8.3e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175689
SMART Domains Protein: ENSMUSP00000135823
Gene: ENSMUSG00000006715

DomainStartEndE-ValueType
Pfam:Geminin 1 187 6.4e-91 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176890
SMART Domains Protein: ENSMUSP00000135006
Gene: ENSMUSG00000006715

DomainStartEndE-ValueType
Pfam:Geminin 1 167 4.1e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177253
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 protein that plays a critical role in cell cycle regulation. The encoded protein inhibits DNA replication by binding to DNA replication factor Cdt1, preventing the incorporation of minichromosome maintenance proteins into the pre-replication complex. The encoded protein is expressed during the S and G2 phases of the cell cycle and is degraded by the anaphase-promoting complex during the metaphase-anaphase transition. Increased expression of this gene may play a role in several malignancies including colon, rectal and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and two pseudogenes of this gene are located on the short arm of chromosome 16. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit early embryonic lethality, defective inner cell mass formation, and endoreduplication. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,044,215 (GRCm39) probably benign Het
Acadsb A G 7: 131,026,357 (GRCm39) T67A probably benign Het
Aff2 A G X: 68,907,693 (GRCm39) D1225G possibly damaging Het
Atp2a2 T C 5: 122,627,366 (GRCm39) D133G probably benign Het
Cacul1 A T 19: 60,551,661 (GRCm39) M187K possibly damaging Het
Celf4 A G 18: 25,637,207 (GRCm39) Y263H probably damaging Het
Cmbl G T 15: 31,589,830 (GRCm39) V187F probably damaging Het
Epha1 T C 6: 42,337,491 (GRCm39) N896S probably benign Het
Fbxo27 G A 7: 28,396,201 (GRCm39) probably null Het
Galnt16 T C 12: 80,623,337 (GRCm39) S166P probably damaging Het
Gm1110 A G 9: 26,832,010 (GRCm39) V47A probably benign Het
Gpbp1 T C 13: 111,573,007 (GRCm39) I382V probably benign Het
Gpr87 C A 3: 59,086,738 (GRCm39) V256L probably damaging Het
Il4ra C A 7: 125,174,962 (GRCm39) S390* probably null Het
Itprid1 A T 6: 55,945,262 (GRCm39) D661V probably damaging Het
Lrrc47 T C 4: 154,103,392 (GRCm39) probably null Het
Lrriq4 A T 3: 30,709,788 (GRCm39) L362F probably damaging Het
Lrrtm4 A T 6: 79,998,827 (GRCm39) N79Y probably benign Het
Nr1i2 T A 16: 38,074,118 (GRCm39) H165L probably damaging Het
Or10g1b T C 14: 52,627,627 (GRCm39) E201G probably damaging Het
Phf11a T A 14: 59,516,817 (GRCm39) T214S possibly damaging Het
Prr14l A T 5: 32,987,887 (GRCm39) I536K possibly damaging Het
Rpn1 T A 6: 88,079,087 (GRCm39) I510N probably benign Het
Sall4 A T 2: 168,597,805 (GRCm39) L20Q probably null Het
Sema3f T C 9: 107,559,710 (GRCm39) E759G probably benign Het
Slc5a1 T C 5: 33,311,945 (GRCm39) S446P probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tcn2 C A 11: 3,876,158 (GRCm39) S90I possibly damaging Het
Ttn T C 2: 76,542,331 (GRCm39) T31806A possibly damaging Het
Ubr1 T C 2: 120,701,460 (GRCm39) probably benign Het
Vac14 T G 8: 111,361,750 (GRCm39) L214R probably damaging Het
Vmn2r58 T C 7: 41,486,553 (GRCm39) K781E probably damaging Het
Vmn2r92 T C 17: 18,387,503 (GRCm39) probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp609 G A 9: 65,610,072 (GRCm39) P964S probably damaging Het
Other mutations in Gmnn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Gmnn APN 13 24,936,105 (GRCm39) missense probably benign 0.30
IGL01657:Gmnn APN 13 24,937,687 (GRCm39) missense probably damaging 1.00
R1513:Gmnn UTSW 13 24,940,615 (GRCm39) missense possibly damaging 0.94
R1671:Gmnn UTSW 13 24,936,054 (GRCm39) makesense probably null
R2184:Gmnn UTSW 13 24,937,706 (GRCm39) missense probably damaging 1.00
R5435:Gmnn UTSW 13 24,936,084 (GRCm39) missense probably benign 0.01
R8489:Gmnn UTSW 13 24,941,614 (GRCm39) missense probably damaging 1.00
R9015:Gmnn UTSW 13 24,940,638 (GRCm39) missense probably benign 0.23
R9255:Gmnn UTSW 13 24,937,351 (GRCm39) missense probably benign 0.13
Posted On 2015-04-16