Incidental Mutation 'IGL01324:Gmnn'
ID 74180
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 # IGL01324
Quality Score
Status
Chromosome 13
Chromosomal Location 24935828-24945906 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24936105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 190 (T190A)
Ref Sequence ENSEMBL: ENSMUSP00000135823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006898] [ENSMUST00000110382] [ENSMUST00000175689] [ENSMUST00000176890] [ENSMUST00000177253]
AlphaFold O88513
Predicted Effect probably benign
Transcript: ENSMUST00000006898
AA Change: T190A

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000006898
Gene: ENSMUSG00000006715
AA Change: T190A

DomainStartEndE-ValueType
Pfam:Geminin 1 187 1.4e-91 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110382
AA Change: T190A

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106011
Gene: ENSMUSG00000006715
AA Change: T190A

DomainStartEndE-ValueType
Pfam:Geminin 1 186 8.3e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175689
AA Change: T190A

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000135823
Gene: ENSMUSG00000006715
AA Change: T190A

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak G A 19: 8,980,396 (GRCm39) G560D probably damaging Het
Ap1g1 T A 8: 110,559,414 (GRCm39) D239E possibly damaging Het
Ap2a1 T A 7: 44,555,120 (GRCm39) T482S probably damaging Het
BC004004 T C 17: 29,501,225 (GRCm39) L58P probably damaging Het
Camsap1 C A 2: 25,823,635 (GRCm39) V1472L possibly damaging Het
Ces3b A T 8: 105,819,884 (GRCm39) E569V probably damaging Het
Commd6 G A 14: 101,877,738 (GRCm39) probably benign Het
Ddx54 A G 5: 120,761,703 (GRCm39) D493G probably benign Het
Dync1h1 C T 12: 110,593,299 (GRCm39) R1189C probably damaging Het
Ern2 T A 7: 121,782,413 (GRCm39) I68F possibly damaging Het
Eya4 A G 10: 22,992,449 (GRCm39) probably null Het
Gda A T 19: 21,387,250 (GRCm39) I325K probably damaging Het
Hdac4 G A 1: 91,887,137 (GRCm39) P801S probably damaging Het
Hnrnph3 A T 10: 62,853,903 (GRCm39) *72K probably null Het
Hoxd12 A T 2: 74,505,480 (GRCm39) N17I probably damaging Het
Incenp G A 19: 9,861,092 (GRCm39) R497C unknown Het
Iqsec1 C A 6: 90,666,685 (GRCm39) R584L probably damaging Het
Kcnip1 A G 11: 33,595,603 (GRCm39) M1T probably null Het
Kcnu1 T A 8: 26,339,735 (GRCm39) S18T probably benign Het
Lepr T A 4: 101,625,265 (GRCm39) D473E probably benign Het
Nfkbiz T C 16: 55,636,167 (GRCm39) T564A probably damaging Het
Nsd3 C T 8: 26,152,836 (GRCm39) T392I probably damaging Het
Or10a5 T C 7: 106,636,054 (GRCm39) S231P probably damaging Het
Or10w1 T C 19: 13,632,297 (GRCm39) I163T probably damaging Het
P4ha2 A G 11: 54,010,984 (GRCm39) D333G probably damaging Het
Parg T C 14: 32,018,142 (GRCm39) probably benign Het
Psmc2 G A 5: 22,005,007 (GRCm39) probably null Het
Rnf213 A G 11: 119,338,063 (GRCm39) Y3354C probably damaging Het
Siglec1 T G 2: 130,927,461 (GRCm39) D115A probably damaging Het
Slit3 G T 11: 35,501,529 (GRCm39) G421V probably damaging Het
Srgap3 T A 6: 112,716,358 (GRCm39) H590L probably damaging Het
Stk36 A C 1: 74,664,769 (GRCm39) T628P possibly damaging Het
Stx12 A T 4: 132,590,576 (GRCm39) M107K probably benign Het
Syne2 G T 12: 76,090,526 (GRCm39) V5105F probably damaging Het
Tecta T C 9: 42,256,727 (GRCm39) S1650G probably damaging Het
Tlr1 T C 5: 65,082,522 (GRCm39) N685S probably damaging Het
Trio A G 15: 27,905,409 (GRCm39) V60A probably benign Het
Ttyh3 G A 5: 140,617,268 (GRCm39) R334W probably benign Het
Ube2u A G 4: 100,336,422 (GRCm39) E15G possibly damaging Het
Ush2a G T 1: 188,581,189 (GRCm39) V3690L probably benign Het
Xab2 A G 8: 3,671,232 (GRCm39) V16A possibly damaging Het
Other mutations in Gmnn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01657:Gmnn APN 13 24,937,687 (GRCm39) missense probably damaging 1.00
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 2013-10-07