Incidental Mutation 'IGL02376:Gemin2'
ID 291136
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 # IGL02376
Quality Score
Status
Chromosome 12
Chromosomal Location 59060179-59075256 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59068506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 195 (D195G)
Ref Sequence ENSEMBL: ENSMUSP00000021379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021379]
AlphaFold Q9CQQ4
Predicted Effect probably benign
Transcript: ENSMUST00000021379
AA Change: D195G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021379
Gene: ENSMUSG00000060121
AA Change: D195G

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A G 6: 88,815,466 (GRCm39) probably benign Het
Adcy3 G A 12: 4,251,031 (GRCm39) E597K possibly damaging Het
Adcy9 A G 16: 4,236,544 (GRCm39) V289A probably benign Het
Akr1d1 A T 6: 37,507,220 (GRCm39) D14V probably damaging Het
Ankrd12 T C 17: 66,349,524 (GRCm39) probably benign Het
Arap3 T C 18: 38,111,506 (GRCm39) T1137A possibly damaging Het
Arhgef4 A T 1: 34,845,140 (GRCm39) Q77L probably damaging Het
Arhgef7 A G 8: 11,867,735 (GRCm39) T444A probably damaging Het
Arr3 A C X: 99,658,281 (GRCm39) K281Q probably damaging Het
Arrdc2 A T 8: 71,291,623 (GRCm39) I114N probably benign Het
Atg2b A T 12: 105,611,727 (GRCm39) F1217Y probably damaging Het
C1qtnf1 A C 11: 118,338,894 (GRCm39) Y188S probably benign Het
Cbx6 C A 15: 79,712,500 (GRCm39) R309L probably benign Het
Cfap410 A G 10: 77,820,388 (GRCm39) probably benign Het
Chrna9 T C 5: 66,128,502 (GRCm39) S237P probably damaging Het
Dapk1 G A 13: 60,844,208 (GRCm39) V76I probably benign Het
Elk4 T A 1: 131,942,288 (GRCm39) N53K probably benign Het
Epha7 A C 4: 28,951,287 (GRCm39) T799P probably damaging Het
Exosc2 G A 2: 31,569,887 (GRCm39) V233M possibly damaging Het
Fam217b A G 2: 178,059,366 (GRCm39) D3G probably benign Het
Farp1 T A 14: 121,510,268 (GRCm39) N755K probably damaging Het
Fer A G 17: 64,241,341 (GRCm39) E327G possibly damaging Het
Fmnl3 A T 15: 99,216,844 (GRCm39) F1017Y possibly damaging Het
Gabbr2 A C 4: 46,684,300 (GRCm39) I658S probably damaging Het
Gtf3c1 T A 7: 125,268,168 (GRCm39) Y875F probably benign Het
Hnrnpr G A 4: 136,046,766 (GRCm39) G149D probably damaging Het
Krt74 A C 15: 101,662,938 (GRCm39) noncoding transcript Het
Ltf A G 9: 110,858,692 (GRCm39) D480G probably benign Het
Map1b A G 13: 99,572,103 (GRCm39) L206P probably damaging Het
Meis1 T C 11: 18,831,752 (GRCm39) M429V probably benign Het
Myh4 C A 11: 67,136,554 (GRCm39) T444N probably benign Het
Nckap1l A T 15: 103,379,658 (GRCm39) Y315F possibly damaging Het
Ndst3 A G 3: 123,350,447 (GRCm39) I646T probably damaging Het
Ndufv1 T C 19: 4,057,823 (GRCm39) probably null Het
Ogdhl T C 14: 32,065,275 (GRCm39) Y710H probably damaging Het
Or4c52 A G 2: 89,845,804 (GRCm39) I177V probably benign Het
Otud7b A G 3: 96,062,354 (GRCm39) K531R possibly damaging Het
Pax3 T C 1: 78,108,929 (GRCm39) Y243C probably damaging Het
Pde1a A G 2: 79,705,567 (GRCm39) probably benign Het
Pik3cb C T 9: 98,934,405 (GRCm39) M813I probably benign Het
Prss42 A T 9: 110,632,175 (GRCm39) D302V possibly damaging Het
Rad52 T C 6: 119,892,191 (GRCm39) probably benign Het
Reln A T 5: 22,285,789 (GRCm39) Y393* probably null Het
Rhbdd3 T C 11: 5,053,192 (GRCm39) probably benign Het
Sbf2 C T 7: 110,062,163 (GRCm39) G138D probably damaging Het
Slco1a1 A T 6: 141,870,060 (GRCm39) probably null Het
Smg9 A G 7: 24,114,455 (GRCm39) I265V probably benign Het
Sppl2b G T 10: 80,703,432 (GRCm39) E565* probably null Het
Stx6 T A 1: 155,077,725 (GRCm39) V244D probably benign Het
Tle4 T C 19: 14,571,768 (GRCm39) N78D probably damaging Het
Tmcc3 A G 10: 94,414,429 (GRCm39) I44V possibly damaging Het
Tnnt3 C T 7: 142,066,295 (GRCm39) T220I possibly damaging Het
Ttn A T 2: 76,557,811 (GRCm39) D29798E possibly damaging Het
Vtcn1 A T 3: 100,799,981 (GRCm39) M281L probably benign Het
Zfp595 T C 13: 67,464,514 (GRCm39) K586R possibly damaging Het
Zfta C T 19: 7,399,741 (GRCm39) P496L probably damaging Het
Other mutations in Gemin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02054:Gemin2 APN 12 59,068,523 (GRCm39) critical splice donor site probably null
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 2015-04-16