Incidental Mutation 'R2184:Gmnn'
ID 237380
Institutional Source Beutler Lab
Gene Symbol Gmnn
Ensembl Gene ENSMUSG00000006715
Gene Name geminin
Synonyms Gem
MMRRC Submission 040186-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2184 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 24935828-24945906 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24937706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 95 (Y95H)
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: Y95H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000006898
Gene: ENSMUSG00000006715
AA Change: Y95H

DomainStartEndE-ValueType
Pfam:Geminin 1 187 1.4e-91 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110382
AA Change: Y95H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106011
Gene: ENSMUSG00000006715
AA Change: Y95H

DomainStartEndE-ValueType
Pfam:Geminin 1 186 8.3e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000175689
AA Change: Y95H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135823
Gene: ENSMUSG00000006715
AA Change: Y95H

DomainStartEndE-ValueType
Pfam:Geminin 1 187 6.4e-91 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000176890
AA Change: Y95H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135006
Gene: ENSMUSG00000006715
AA Change: Y95H

DomainStartEndE-ValueType
Pfam:Geminin 1 167 4.1e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177253
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 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 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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,019,389 (GRCm39) R184G probably damaging Het
2300002M23Rik C A 17: 35,879,115 (GRCm39) A151E probably benign Het
A930011G23Rik C T 5: 99,380,228 (GRCm39) R339Q possibly damaging Het
Abcd2 T C 15: 91,075,642 (GRCm39) Y57C probably benign Het
Adprhl1 A G 8: 13,292,559 (GRCm39) V244A probably benign Het
Agl T C 3: 116,574,426 (GRCm39) N753D probably benign Het
Amotl1 T A 9: 14,486,686 (GRCm39) M440L probably benign Het
Angpt2 A G 8: 18,742,132 (GRCm39) Y475H probably benign Het
Angpt4 A T 2: 151,780,874 (GRCm39) H374L probably damaging Het
Ank1 A T 8: 23,599,270 (GRCm39) T801S probably damaging Het
Ap5m1 G T 14: 49,323,752 (GRCm39) A481S probably damaging Het
AY358078 G T 14: 52,063,445 (GRCm39) G364W probably damaging Het
C4b C A 17: 34,956,676 (GRCm39) A641S probably benign Het
Capn13 T C 17: 73,672,943 (GRCm39) Y120C probably damaging Het
Cbx6 T C 15: 79,712,762 (GRCm39) T222A probably benign Het
Cckar T C 5: 53,860,254 (GRCm39) T192A probably damaging Het
Cdc42bpb T C 12: 111,262,478 (GRCm39) D30G probably damaging Het
Cdk18 A G 1: 132,043,690 (GRCm39) Y385H probably damaging Het
Cep170 A T 1: 176,584,542 (GRCm39) D612E probably benign Het
Dennd4b G T 3: 90,182,847 (GRCm39) R888L probably damaging Het
Egf A T 3: 129,517,007 (GRCm39) C373* probably null Het
Gabrb2 T C 11: 42,312,255 (GRCm39) probably null Het
Gle1 G T 2: 29,839,030 (GRCm39) A482S probably damaging Het
Gm10644 T C 8: 84,660,256 (GRCm39) T30A possibly damaging Het
Hectd3 T A 4: 116,858,100 (GRCm39) S643T possibly damaging Het
Hoga1 A G 19: 42,049,830 (GRCm39) Y225C probably damaging Het
Hook3 T C 8: 26,609,011 (GRCm39) E11G probably benign Het
Hsd17b1 C A 11: 100,969,357 (GRCm39) S30R probably benign Het
Htr3b G A 9: 48,858,544 (GRCm39) P112S probably damaging Het
Iqch T A 9: 63,432,351 (GRCm39) D348V probably damaging Het
Irgm2 A T 11: 58,111,254 (GRCm39) N327I probably benign Het
Itgb4 T C 11: 115,870,450 (GRCm39) I93T probably damaging Het
Lamb2 T C 9: 108,357,752 (GRCm39) F92L probably damaging Het
Lats2 T C 14: 57,929,016 (GRCm39) H953R probably damaging Het
Lrp1b T C 2: 40,620,714 (GRCm39) E3588G probably benign Het
Marchf1 A G 8: 66,840,075 (GRCm39) E286G probably benign Het
Mc2r G T 18: 68,541,196 (GRCm39) F32L probably benign Het
Mink1 C T 11: 70,494,623 (GRCm39) T268M probably damaging Het
Mta1 G A 12: 113,093,815 (GRCm39) probably null Het
Muc5b C A 7: 141,412,601 (GRCm39) S1849* probably null Het
Myh15 A G 16: 48,957,874 (GRCm39) E897G probably damaging Het
Nobox T C 6: 43,281,819 (GRCm39) Q418R possibly damaging Het
Obsl1 G T 1: 75,478,861 (GRCm39) Q626K probably benign Het
Or11h4 A G 14: 50,974,059 (GRCm39) S187P probably damaging Het
Or13a24 T C 7: 140,154,315 (GRCm39) V83A probably benign Het
Or1j12 A G 2: 36,343,046 (GRCm39) T150A probably benign Het
Or2w25 T A 11: 59,503,964 (GRCm39) M58K probably damaging Het
Or5w14 G A 2: 87,541,549 (GRCm39) R234C probably damaging Het
Or8k24 G A 2: 86,216,489 (GRCm39) T91I probably benign Het
Or9i1 A G 19: 13,839,399 (GRCm39) I81V probably benign Het
Pald1 C T 10: 61,182,915 (GRCm39) A345T possibly damaging Het
Pde8b G A 13: 95,162,723 (GRCm39) P800S probably damaging Het
Pgm2l1 G A 7: 99,917,362 (GRCm39) C493Y possibly damaging Het
Pias3 A G 3: 96,609,537 (GRCm39) S311G possibly damaging Het
Pkhd1l1 A G 15: 44,362,692 (GRCm39) N573D possibly damaging Het
Plaat3 A G 19: 7,556,583 (GRCm39) D128G probably damaging Het
Plxnc1 T G 10: 94,780,131 (GRCm39) S104R probably damaging Het
Pofut2 T A 10: 77,103,059 (GRCm39) F179I probably damaging Het
Prkcsh T A 9: 21,916,028 (GRCm39) C112S probably damaging Het
Prss32 G A 17: 24,078,297 (GRCm39) A328T probably benign Het
Ptgir G T 7: 16,642,708 (GRCm39) R103L probably damaging Het
Ptpn5 G A 7: 46,738,350 (GRCm39) S244F probably damaging Het
Rnpepl1 G A 1: 92,844,545 (GRCm39) V346I probably benign Het
Sh3rf1 T A 8: 61,825,688 (GRCm39) V561D probably damaging Het
Slc22a19 A T 19: 7,687,026 (GRCm39) Y160N probably benign Het
Sorbs3 A G 14: 70,428,880 (GRCm39) probably null Het
Sostdc1 T G 12: 36,367,295 (GRCm39) I157S probably damaging Het
Svil G T 18: 5,099,534 (GRCm39) R1777L probably damaging Het
Svil A T 18: 5,099,615 (GRCm39) E1804V probably damaging Het
Tasor T A 14: 27,188,141 (GRCm39) N862K possibly damaging Het
Thbs4 A G 13: 92,911,302 (GRCm39) S294P probably benign Het
Tle2 A G 10: 81,426,111 (GRCm39) Y750C probably damaging Het
Tmcc3 T C 10: 94,418,168 (GRCm39) L312P probably damaging Het
Tnip2 TCTCCT TCT 5: 34,656,957 (GRCm39) probably benign Het
Tnpo2 T A 8: 85,780,475 (GRCm39) M734K probably benign Het
Trmt2a A T 16: 18,070,859 (GRCm39) R531W probably benign Het
Ubn2 C T 6: 38,461,029 (GRCm39) R483W probably damaging Het
Zc3hav1 T A 6: 38,284,343 (GRCm39) Y924F 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
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
Predicted Primers PCR Primer
(F):5'- CGGTTCCCTTAGACCAACACTC -3'
(R):5'- AGCTCAGGGATCGAAAACTTTG -3'

Sequencing Primer
(F):5'- TCAAGCTAGTCTATGGCACCG -3'
(R):5'- CAGGCTTAGAGCACTGAT -3'
Posted On 2014-10-02