Incidental Mutation 'R1385:Gemin2'
ID 262780
Institutional Source Beutler Lab
Gene Symbol Gemin2
Ensembl Gene ENSMUSG00000060121
Gene Name gem nuclear organelle associated protein 2
Synonyms 1700012N19Rik, Sip1
MMRRC Submission 039447-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1385 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 59060179-59075256 bp(+) (GRCm39)
Type of Mutation splice site (21 bp from exon)
DNA Base Change (assembly) A to G at 59064932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000021379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021379]
AlphaFold Q9CQQ4
Predicted Effect probably null
Transcript: ENSMUST00000021379
SMART Domains Protein: ENSMUSP00000021379
Gene: ENSMUSG00000060121

DomainStartEndE-ValueType
Pfam:SIP1 22 262 4e-82 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182188
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.5%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes one of the proteins found in the survival of motor neuron (SMN) complex, which consists of the SMN protein and several gemin proteins. The SMN complex is localized to a subnuclear compartment called gems (gemini of coiled bodies) and is required for assembly of spliceosomal small nuclear ribonucleoproteins (snRNP) and for pre-mRNA splicing. This protein interacts directly with the SMN protein and it is required for formation of the SMN complex. Disruption of this gene in mouse resulted in impaired snRNP assembly, and motor neuron degeneration. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh7a1 A G 18: 56,675,357 (GRCm39) S269P probably damaging Het
Arf3 A G 15: 98,640,494 (GRCm39) V43A probably damaging Het
Arhgap1 C A 2: 91,501,176 (GRCm39) N457K probably damaging Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Bltp3b A G 10: 89,626,503 (GRCm39) N399S possibly damaging Het
Ccdc39 C T 3: 33,875,561 (GRCm39) E544K probably damaging Het
Cfap44 A G 16: 44,291,138 (GRCm39) E1546G probably damaging Het
Cntn6 A G 6: 104,838,861 (GRCm39) I900V probably benign Het
Edem1 A G 6: 108,823,645 (GRCm39) N347S probably damaging Het
Erich6 A G 3: 58,544,251 (GRCm39) I112T probably benign Het
Hunk T A 16: 90,269,374 (GRCm39) V306E possibly damaging Het
Hydin A G 8: 111,249,836 (GRCm39) I2260V probably benign Het
Insyn1 AGAGGAGGAGGAGGAGG AGAGGAGGAGGAGG 9: 58,406,715 (GRCm39) probably benign Het
Itgbl1 A G 14: 123,898,923 (GRCm39) probably null Het
Iws1 T A 18: 32,223,483 (GRCm39) N630K probably benign Het
Lama2 C A 10: 27,100,039 (GRCm39) R822L probably benign Het
Lrrc56 A G 7: 140,785,438 (GRCm39) D130G probably damaging Het
Mageb11 T A X: 89,935,874 (GRCm39) C43S probably benign Het
Malrd1 A T 2: 16,047,039 (GRCm39) I1722F unknown Het
Mark4 G T 7: 19,159,952 (GRCm39) probably null Het
Muc5b T C 7: 141,415,874 (GRCm39) V2940A probably benign Het
Mxd1 T A 6: 86,628,549 (GRCm39) Q62L probably damaging Het
Ncapd2 A T 6: 125,150,078 (GRCm39) S917T probably benign Het
Nr2c2 T G 6: 92,131,451 (GRCm39) F171C probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Nynrin A T 14: 56,102,356 (GRCm39) Q675L probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Ocstamp T C 2: 165,237,959 (GRCm39) D435G probably benign Het
Pdzd2 T C 15: 12,411,108 (GRCm39) T553A probably benign Het
Pllp A G 8: 95,405,996 (GRCm39) Y96H probably benign Het
Polg2 A G 11: 106,659,149 (GRCm39) S455P probably damaging Het
Ppp1r9b A G 11: 94,883,037 (GRCm39) T222A probably benign Het
Prkcd G A 14: 30,329,362 (GRCm39) T26I probably damaging Het
Prkcq A G 2: 11,261,097 (GRCm39) H383R probably damaging Het
Prune2 A G 19: 17,102,312 (GRCm39) I2490M possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Scn9a G A 2: 66,393,886 (GRCm39) P229L probably damaging Het
Serpinb5 A G 1: 106,803,853 (GRCm39) T180A probably damaging Het
Slc5a2 G C 7: 127,869,803 (GRCm39) R412P probably damaging Het
Sphk2 A G 7: 45,361,715 (GRCm39) I82T probably damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Treml1 T G 17: 48,667,226 (GRCm39) V37G probably damaging Het
Trim33 A G 3: 103,218,266 (GRCm39) K272E possibly damaging Het
Trpv6 T C 6: 41,598,063 (GRCm39) D748G probably benign Het
Ubr4 A G 4: 139,129,923 (GRCm39) H681R probably benign Het
Vmn2r82 A T 10: 79,232,325 (GRCm39) R775* probably null Het
Xpo1 T C 11: 23,211,863 (GRCm39) L8S probably damaging Het
Zfand4 G A 6: 116,250,599 (GRCm39) G10R probably damaging Het
Zfp119a T A 17: 56,172,826 (GRCm39) H339L probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Other mutations in Gemin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02054:Gemin2 APN 12 59,068,523 (GRCm39) critical splice donor site probably null
IGL02376:Gemin2 APN 12 59,068,506 (GRCm39) missense probably benign
IGL02394:Gemin2 APN 12 59,060,842 (GRCm39) critical splice donor site probably null
IGL03093:Gemin2 APN 12 59,068,511 (GRCm39) missense probably benign 0.01
IGL03238:Gemin2 APN 12 59,063,748 (GRCm39) splice site probably benign
R0462:Gemin2 UTSW 12 59,060,305 (GRCm39) missense probably damaging 0.96
R3080:Gemin2 UTSW 12 59,071,877 (GRCm39) missense probably damaging 1.00
R4957:Gemin2 UTSW 12 59,063,954 (GRCm39) missense probably benign 0.03
R6187:Gemin2 UTSW 12 59,060,371 (GRCm39) missense probably damaging 0.99
Predicted Primers
Posted On 2015-02-04