Incidental Mutation 'R5435:Gmnn'
ID 428284
Institutional Source Beutler Lab
Gene Symbol Gmnn
Ensembl Gene ENSMUSG00000006715
Gene Name geminin
Synonyms Gem
MMRRC Submission 043000-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5435 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 24935828-24945906 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24936084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 197 (S197P)
Ref Sequence ENSEMBL: ENSMUSP00000106011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006898] [ENSMUST00000110382] [ENSMUST00000175689] [ENSMUST00000176890] [ENSMUST00000177253]
AlphaFold O88513
Predicted Effect probably benign
Transcript: ENSMUST00000006898
AA Change: S197P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000006898
Gene: ENSMUSG00000006715
AA Change: S197P

DomainStartEndE-ValueType
Pfam:Geminin 1 187 1.4e-91 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110382
AA Change: S197P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000106011
Gene: ENSMUSG00000006715
AA Change: S197P

DomainStartEndE-ValueType
Pfam:Geminin 1 186 8.3e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175689
AA Change: S197P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000135823
Gene: ENSMUSG00000006715
AA Change: S197P

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
Meta Mutation Damage Score 0.1367 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (74/74)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,383,413 (GRCm39) F851L probably benign Het
Abca17 C T 17: 24,486,588 (GRCm39) V1480I possibly damaging Het
Acsbg1 G T 9: 54,523,153 (GRCm39) Y491* probably null Het
Acsf3 T A 8: 123,507,020 (GRCm39) N104K probably damaging Het
Adam23 T C 1: 63,585,612 (GRCm39) Y400H possibly damaging Het
Adgra3 G A 5: 50,147,468 (GRCm39) T524M probably damaging Het
Aff1 G A 5: 103,902,198 (GRCm39) probably benign Het
Anxa9 T C 3: 95,204,561 (GRCm39) Y321C probably damaging Het
Ap1g1 T A 8: 110,565,552 (GRCm39) Y329N probably damaging Het
Aph1c A T 9: 66,741,783 (GRCm39) I33N possibly damaging Het
B3galnt2 A G 13: 14,171,575 (GRCm39) E491G probably benign Het
Bdh1 C T 16: 31,275,475 (GRCm39) R235C probably damaging Het
Ccar2 A G 14: 70,376,776 (GRCm39) L856P probably damaging Het
Ccdc107 A T 4: 43,493,519 (GRCm39) D30V probably damaging Het
Ccdc116 G T 16: 16,960,626 (GRCm39) H64N probably benign Het
Ccl12 T C 11: 81,994,001 (GRCm39) I86T possibly damaging Het
Col2a1 T C 15: 97,898,391 (GRCm39) probably benign Het
Col4a4 T A 1: 82,431,728 (GRCm39) I1519F unknown Het
Ddx19b T C 8: 111,735,458 (GRCm39) Q416R possibly damaging Het
Dnah6 T A 6: 73,037,121 (GRCm39) M3374L probably benign Het
Dnajc6 A T 4: 101,463,807 (GRCm39) I119F probably damaging Het
Ensa C A 3: 95,529,769 (GRCm39) probably benign Het
Fbxo4 C T 15: 3,995,274 (GRCm39) V357I possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Foxf1 G A 8: 121,811,231 (GRCm39) G32S probably damaging Het
Gls2 G A 10: 128,030,995 (GRCm39) probably benign Het
Gm13599 T A 2: 67,226,496 (GRCm39) noncoding transcript Het
Guf1 A T 5: 69,720,512 (GRCm39) H324L probably benign Het
H2-Q6 A G 17: 35,644,661 (GRCm39) D150G probably damaging Het
Herc3 T A 6: 58,832,791 (GRCm39) L152Q probably damaging Het
Hnrnpul2 T G 19: 8,797,682 (GRCm39) S13A probably benign Het
Ighv5-4 A G 12: 113,561,283 (GRCm39) F46L probably benign Het
Kank1 T G 19: 25,388,507 (GRCm39) S727A probably benign Het
Kcnma1 A T 14: 23,578,472 (GRCm39) Y201* probably null Het
Lyst A T 13: 13,951,649 (GRCm39) H3750L possibly damaging Het
Mettl25 A G 10: 105,615,447 (GRCm39) probably null Het
Mpdz A G 4: 81,201,724 (GRCm39) probably benign Het
Myh9 C T 15: 77,653,809 (GRCm39) V1280I probably benign Het
Neto1 A T 18: 86,416,388 (GRCm39) T32S probably benign Het
Nol7 C A 13: 43,554,848 (GRCm39) H187Q possibly damaging Het
Or5ak22 T A 2: 85,230,814 (GRCm39) N21I probably benign Het
Pcdha8 A G 18: 37,126,652 (GRCm39) D378G probably damaging Het
Peak1 A G 9: 56,113,770 (GRCm39) S694P probably damaging Het
Pih1d1 T A 7: 44,805,696 (GRCm39) probably null Het
Pik3c2g T G 6: 139,661,581 (GRCm39) probably null Het
Prkar2a A G 9: 108,617,682 (GRCm39) R247G probably damaging Het
Psg26 A G 7: 18,212,398 (GRCm39) I319T possibly damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rasa3 T C 8: 13,681,811 (GRCm39) E46G possibly damaging Het
Rbbp5 T A 1: 132,422,013 (GRCm39) H304Q probably damaging Het
Relch T A 1: 105,668,975 (GRCm39) probably benign Het
Scn1a T A 2: 66,103,878 (GRCm39) E1783V probably damaging Het
Stag1 A G 9: 100,835,603 (GRCm39) N151S probably benign Het
Tbc1d32 C A 10: 55,916,246 (GRCm39) A1191S probably damaging Het
Tchh C A 3: 93,350,979 (GRCm39) R140S possibly damaging Het
Trank1 A G 9: 111,220,958 (GRCm39) Y2565C probably benign Het
Ttn A T 2: 76,744,702 (GRCm39) V5449D probably damaging Het
Tubgcp2 G A 7: 139,575,985 (GRCm39) P893S possibly damaging Het
Wdfy4 A G 14: 32,742,268 (GRCm39) F2325S probably damaging Het
Wdr35 A G 12: 9,039,951 (GRCm39) D352G probably benign Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Ypel3 A G 7: 126,374,960 (GRCm39) probably benign Het
Zan T A 5: 137,402,024 (GRCm39) T4023S unknown Het
Zfp735 T A 11: 73,602,939 (GRCm39) C628S possibly 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
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'- TCCACGACATACAATGTTCAACAGG -3'
(R):5'- TTGAGGAGCTCAGTCAATGC -3'

Sequencing Primer
(F):5'- TCTGACACTGACAAAAATGAAAATGC -3'
(R):5'- GCTCAGTCAATGCATTAAAAGAGC -3'
Posted On 2016-09-01