Incidental Mutation 'IGL01657:Gmnn'
ID 103059
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 # IGL01657
Quality Score
Status
Chromosome 13
Chromosomal Location 24935828-24945906 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24937687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 101 (E101G)
Ref Sequence ENSEMBL: ENSMUSP00000135006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006898] [ENSMUST00000110382] [ENSMUST00000175689] [ENSMUST00000176890] [ENSMUST00000177253]
AlphaFold O88513
Predicted Effect probably damaging
Transcript: ENSMUST00000006898
AA Change: E101G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006898
Gene: ENSMUSG00000006715
AA Change: E101G

DomainStartEndE-ValueType
Pfam:Geminin 1 187 1.4e-91 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110382
AA Change: E101G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106011
Gene: ENSMUSG00000006715
AA Change: E101G

DomainStartEndE-ValueType
Pfam:Geminin 1 186 8.3e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000175689
AA Change: E101G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135823
Gene: ENSMUSG00000006715
AA Change: E101G

DomainStartEndE-ValueType
Pfam:Geminin 1 187 6.4e-91 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000176890
AA Change: E101G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135006
Gene: ENSMUSG00000006715
AA Change: E101G

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,865,574 (GRCm39) F90L probably benign Het
Anapc4 T A 5: 53,021,968 (GRCm39) Y683* probably null Het
Astn2 T G 4: 65,570,186 (GRCm39) D773A probably damaging Het
Atp2b3 T C X: 72,588,966 (GRCm39) probably benign Het
Atp8b5 T C 4: 43,291,693 (GRCm39) M22T probably benign Het
Birc6 T A 17: 74,967,606 (GRCm39) L4169H probably damaging Het
Cdc42bpa T C 1: 179,939,431 (GRCm39) V81A probably benign Het
Clcn2 A T 16: 20,532,369 (GRCm39) C80S probably damaging Het
Clu C T 14: 66,217,121 (GRCm39) A318V possibly damaging Het
Csnk1g2 A G 10: 80,475,463 (GRCm39) H378R probably benign Het
Decr2 T A 17: 26,301,926 (GRCm39) D268V probably damaging Het
Dpp3 T C 19: 4,968,332 (GRCm39) T247A possibly damaging Het
Eif4g1 A G 16: 20,500,966 (GRCm39) N774D possibly damaging Het
Epha4 A T 1: 77,403,475 (GRCm39) V344E probably damaging Het
Epha6 A C 16: 59,659,666 (GRCm39) N817K probably benign Het
Ggcx T A 6: 72,406,941 (GRCm39) probably null Het
Gm1965 C T 6: 89,123,648 (GRCm39) noncoding transcript Het
Grik2 C T 10: 49,404,082 (GRCm39) probably null Het
H2-M11 T A 17: 36,858,465 (GRCm39) D86E probably benign Het
Il6st T A 13: 112,618,077 (GRCm39) W164R probably damaging Het
Ilvbl G T 10: 78,412,602 (GRCm39) V108L possibly damaging Het
Klk10 A G 7: 43,431,013 (GRCm39) K19E possibly damaging Het
Mbd4 G T 6: 115,826,598 (GRCm39) T131N probably damaging Het
Ncapd3 T C 9: 26,983,120 (GRCm39) V956A possibly damaging Het
Nif3l1 A C 1: 58,494,771 (GRCm39) T247P probably damaging Het
Nrcam T C 12: 44,606,583 (GRCm39) V443A probably damaging Het
Or4c35 A G 2: 89,808,221 (GRCm39) Y33C probably damaging Het
Pigk T A 3: 152,428,157 (GRCm39) H61Q probably damaging Het
Pla2g4d C A 2: 120,105,768 (GRCm39) V431F possibly damaging Het
Pxt1 A T 17: 29,153,778 (GRCm39) H18Q possibly damaging Het
Rpusd4 T C 9: 35,184,757 (GRCm39) probably benign Het
Slc22a18 T G 7: 143,052,837 (GRCm39) L354R probably damaging Het
Slc26a10 A G 10: 127,010,903 (GRCm39) V443A probably damaging Het
Smpx A G X: 156,497,676 (GRCm39) probably benign Het
Sptan1 A G 2: 29,908,491 (GRCm39) S1751G probably benign Het
Ush2a C T 1: 188,558,658 (GRCm39) T3629I probably benign Het
Vcan C T 13: 89,838,705 (GRCm39) V2280M probably damaging Het
Vmn1r30 T C 6: 58,412,619 (GRCm39) E71G probably benign Het
Vmn2r100 A T 17: 19,746,178 (GRCm39) I446F possibly damaging Het
Vmn2r75 A T 7: 85,813,455 (GRCm39) V449D probably damaging Het
Other mutations in Gmnn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Gmnn APN 13 24,936,105 (GRCm39) missense probably benign 0.30
IGL02614:Gmnn APN 13 24,944,137 (GRCm39) splice site probably benign
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 2014-01-21