Incidental Mutation 'IGL02054:Gemin2'
ID 185185
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gemin2
Ensembl Gene ENSMUSG00000060121
Gene Name gem nuclear organelle associated protein 2
Synonyms 1700012N19Rik, Sip1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02054
Quality Score
Status
Chromosome 12
Chromosomal Location 59060179-59075256 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 59068523 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182710
Coding Region Coverage
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G T 11: 110,182,949 (GRCm39) P1036Q probably damaging Het
Bag4 T C 8: 26,261,253 (GRCm39) S163G probably benign Het
Camkk1 G A 11: 72,916,708 (GRCm39) R102Q probably damaging Het
Caprin1 A C 2: 103,602,143 (GRCm39) probably null Het
Cct8 A T 16: 87,287,364 (GRCm39) probably benign Het
Dlgap2 A G 8: 14,893,552 (GRCm39) M941V probably damaging Het
Dock7 C T 4: 98,861,646 (GRCm39) R1327Q probably damaging Het
Fhip1b A G 7: 105,033,630 (GRCm39) S529P probably damaging Het
Gbp9 T C 5: 105,230,673 (GRCm39) D417G probably benign Het
Grk6 G T 13: 55,602,210 (GRCm39) A346S probably benign Het
Gtf2h1 A G 7: 46,464,849 (GRCm39) probably benign Het
Irak3 T A 10: 120,012,164 (GRCm39) Q200L probably benign Het
Irx4 A G 13: 73,416,947 (GRCm39) T448A probably damaging Het
Iws1 T C 18: 32,223,595 (GRCm39) probably null Het
Kcnk18 G A 19: 59,224,045 (GRCm39) probably benign Het
Klk1b11 C A 7: 43,648,251 (GRCm39) S86Y possibly damaging Het
Lgals7 T C 7: 28,565,614 (GRCm39) F136S probably damaging Het
Luc7l T A 17: 26,498,314 (GRCm39) probably benign Het
Mta2 T A 19: 8,928,276 (GRCm39) V525E probably benign Het
Mtnr1b G T 9: 15,785,536 (GRCm39) A74E possibly damaging Het
Myo1c A G 11: 75,551,962 (GRCm39) T354A probably benign Het
Nat1 T C 8: 67,944,074 (GRCm39) F153S probably damaging Het
Oasl2 T C 5: 115,035,867 (GRCm39) C48R probably damaging Het
Or4f60 T G 2: 111,902,269 (GRCm39) I220L probably benign Het
Pkm C A 9: 59,585,484 (GRCm39) R489S probably damaging Het
Pth2r T A 1: 65,375,940 (GRCm39) I66N probably damaging Het
Slc25a18 T C 6: 120,769,358 (GRCm39) probably null Het
Tnip3 T C 6: 65,567,595 (GRCm39) S2P possibly damaging Het
Vmn2r61 T C 7: 41,926,158 (GRCm39) probably null Het
Other mutations in Gemin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1385:Gemin2 UTSW 12 59,064,932 (GRCm39) splice site probably null
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
Posted On 2014-05-07