Incidental Mutation 'R9015:Gmnn'
ID 685940
Institutional Source Beutler Lab
Gene Symbol Gmnn
Ensembl Gene ENSMUSG00000006715
Gene Name geminin
Synonyms Gem
MMRRC Submission 068845-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9015 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 24935828-24945906 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24940638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 70 (N70K)
Ref Sequence ENSEMBL: ENSMUSP00000006898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006898] [ENSMUST00000110382] [ENSMUST00000175689] [ENSMUST00000176890] [ENSMUST00000177253]
AlphaFold O88513
PDB Structure Crystal structure of Cdt1/geminin complex [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000006898
AA Change: N70K

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000006898
Gene: ENSMUSG00000006715
AA Change: N70K

DomainStartEndE-ValueType
Pfam:Geminin 1 187 1.4e-91 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110382
AA Change: N70K

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000106011
Gene: ENSMUSG00000006715
AA Change: N70K

DomainStartEndE-ValueType
Pfam:Geminin 1 186 8.3e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175689
AA Change: N70K

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000135823
Gene: ENSMUSG00000006715
AA Change: N70K

DomainStartEndE-ValueType
Pfam:Geminin 1 187 6.4e-91 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176890
AA Change: N70K

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000135006
Gene: ENSMUSG00000006715
AA Change: N70K

DomainStartEndE-ValueType
Pfam:Geminin 1 167 4.1e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177253
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (93/93)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,136,688 (GRCm39) probably benign Het
Adamtsl1 A G 4: 86,150,847 (GRCm39) D335G probably damaging Het
Adcy8 T C 15: 64,597,206 (GRCm39) probably benign Het
Alas1 A T 9: 106,113,670 (GRCm39) I525N probably benign Het
Aoah A T 13: 21,184,197 (GRCm39) silent Het
Aox1 G A 1: 58,382,851 (GRCm39) V1044M probably damaging Het
Apcdd1 A T 18: 63,083,157 (GRCm39) Y329F possibly damaging Het
Arhgap10 A C 8: 77,985,687 (GRCm39) C727G probably benign Het
Arid4a G A 12: 71,122,168 (GRCm39) D528N possibly damaging Het
Atp8a1 A G 5: 67,887,250 (GRCm39) V611A Het
BC004004 T C 17: 29,517,637 (GRCm39) F284L probably damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Cep295 T C 9: 15,244,264 (GRCm39) I1397M probably benign Het
Cep63 A G 9: 102,496,111 (GRCm39) S99P probably damaging Het
Coq3 T A 4: 21,899,107 (GRCm39) S147T probably benign Het
Crym A T 7: 119,801,090 (GRCm39) S20T probably benign Het
Ctr9 T A 7: 110,643,108 (GRCm39) N493K probably benign Het
Dchs2 A G 3: 83,188,751 (GRCm39) I1372V possibly damaging Het
Ddi2 G A 4: 141,412,747 (GRCm39) T55M probably benign Het
Dnah1 T C 14: 30,986,316 (GRCm39) M3724V probably damaging Het
Dst A G 1: 34,326,337 (GRCm39) I4690V probably benign Het
Ect2l T C 10: 18,039,148 (GRCm39) T429A probably benign Het
Eif3c G T 7: 126,155,538 (GRCm39) H577N probably damaging Het
Erg A G 16: 95,162,126 (GRCm39) S334P possibly damaging Het
Faf2 A G 13: 54,796,139 (GRCm39) S127G probably benign Het
Fbxl3 T A 14: 103,329,790 (GRCm39) T141S possibly damaging Het
Fbxw4 T A 19: 45,624,874 (GRCm39) M122L probably benign Het
Fgd4 T C 16: 16,271,941 (GRCm39) M476V probably damaging Het
Flvcr2 A T 12: 85,829,779 (GRCm39) I263F probably benign Het
Gadl1 A T 9: 115,794,705 (GRCm39) R293S probably benign Het
Gm11983 G T 11: 6,787,033 (GRCm39) F31L unknown Het
Gpr3 A G 4: 132,938,390 (GRCm39) V94A possibly damaging Het
Greb1l A G 18: 10,541,675 (GRCm39) S1141G probably benign Het
Helz2 A T 2: 180,870,792 (GRCm39) V2892E probably damaging Het
Hivep1 T A 13: 42,311,849 (GRCm39) M1363K probably benign Het
Hk1 T A 10: 62,128,118 (GRCm39) T336S possibly damaging Het
Hpgds A T 6: 65,115,229 (GRCm39) I18N possibly damaging Het
Insrr T A 3: 87,720,910 (GRCm39) L1056Q probably damaging Het
Ints10 A G 8: 69,260,139 (GRCm39) M288V probably benign Het
Itgb6 T C 2: 60,485,032 (GRCm39) D237G probably damaging Het
Kcnf1 A G 12: 17,225,303 (GRCm39) I306T probably damaging Het
Kdm3b G A 18: 34,963,212 (GRCm39) G1556D probably damaging Het
Kif5b A G 18: 6,216,892 (GRCm39) L477P probably damaging Het
Klf5 T G 14: 99,540,919 (GRCm39) *310G probably null Het
Lnx1 A G 5: 74,780,783 (GRCm39) V246A probably benign Het
Ly75 C T 2: 60,146,442 (GRCm39) E1279K probably benign Het
Lztr1 T A 16: 17,337,305 (GRCm39) C233S probably benign Het
Mfsd6l T G 11: 68,447,536 (GRCm39) I129S probably benign Het
Mrgprx2 T A 7: 48,148,938 (GRCm39) probably benign Het
Ncapd2 A T 6: 125,145,285 (GRCm39) probably benign Het
Or10ag53 T A 2: 87,082,546 (GRCm39) Y88* probably null Het
Or12e9 T A 2: 87,202,485 (GRCm39) M203K possibly damaging Het
Or2a25 G T 6: 42,888,825 (GRCm39) V123L possibly damaging Het
Or8g30 A C 9: 39,230,019 (GRCm39) V297G probably damaging Het
Pde6a A G 18: 61,397,047 (GRCm39) H631R probably damaging Het
Pfkl C T 10: 77,824,794 (GRCm39) G665D probably damaging Het
Pik3ap1 T A 19: 41,270,430 (GRCm39) E753V probably damaging Het
Pik3cd G T 4: 149,740,055 (GRCm39) R502S probably benign Het
Piwil2 T A 14: 70,627,984 (GRCm39) I762L probably benign Het
Pkd1 T A 17: 24,784,636 (GRCm39) L394* probably null Het
Plekhb2 A G 1: 34,916,046 (GRCm39) D195G probably benign Het
Plppr5 T C 3: 117,456,103 (GRCm39) M208T probably damaging Het
Polr2i G A 7: 29,932,513 (GRCm39) V115I unknown Het
Prkacb T C 3: 146,456,239 (GRCm39) S187G probably null Het
Prkag3 G T 1: 74,780,353 (GRCm39) H437Q probably benign Het
Prlr T A 15: 10,319,352 (GRCm39) Y94N probably damaging Het
Prmt6 T C 3: 110,157,214 (GRCm39) I358M probably benign Het
Psd4 A G 2: 24,287,492 (GRCm39) R475G Het
Rad51b G A 12: 79,347,417 (GRCm39) C27Y probably damaging Het
Scfd2 A G 5: 74,691,625 (GRCm39) L219P probably damaging Het
Scn5a G A 9: 119,381,142 (GRCm39) probably benign Het
Sec24d T C 3: 123,121,287 (GRCm39) V391A probably benign Het
Selenbp2 T A 3: 94,607,332 (GRCm39) L251Q probably damaging Het
Sh3rf1 T C 8: 61,827,202 (GRCm39) V652A probably benign Het
Slc11a2 A G 15: 100,301,186 (GRCm39) V289A probably benign Het
Smim29 T C 17: 27,783,223 (GRCm39) D48G probably benign Het
Sox8 T A 17: 25,789,135 (GRCm39) Y121F probably damaging Het
Taar7a A T 10: 23,868,733 (GRCm39) I216N probably damaging Het
Tanc1 T A 2: 59,622,224 (GRCm39) S448T probably benign Het
Tas2r119 G A 15: 32,178,226 (GRCm39) G264D probably damaging Het
Trav7-6 A G 14: 53,954,604 (GRCm39) K65E probably benign Het
Trim17 A G 11: 58,856,057 (GRCm39) E38G probably damaging Het
Trub2 A T 2: 29,668,276 (GRCm39) probably benign Het
Ttn T A 2: 76,571,964 (GRCm39) M26310L probably damaging Het
Unc13c T G 9: 73,453,322 (GRCm39) I1823L probably benign Het
Vav2 C A 2: 27,160,151 (GRCm39) E728* probably null Het
Virma A G 4: 11,540,494 (GRCm39) D1465G probably benign Het
Vmn2r72 T G 7: 85,398,388 (GRCm39) M531L probably benign Het
Vwa3b G A 1: 37,203,597 (GRCm39) V59I possibly damaging Het
Xrcc1 G A 7: 24,271,642 (GRCm39) E542K probably benign Het
Zdhhc6 T G 19: 55,287,318 (GRCm39) T381P probably benign Het
Zdhhc8 T C 16: 18,041,141 (GRCm39) S740G probably damaging Het
Zfp106 T C 2: 120,364,019 (GRCm39) K819R 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
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
R9255:Gmnn UTSW 13 24,937,351 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- CAAATGGTCTGTCCCATGCG -3'
(R):5'- TTAAAGCCCATAAGTACTACAGTCC -3'

Sequencing Primer
(F):5'- GTCCCATGCGTCCAAATTTAGAG -3'
(R):5'- GTCTTGGTGGCAAGTACCATTAACC -3'
Posted On 2021-10-11