Incidental Mutation 'IGL02394:Gemin2'
ID293945
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gemin2
Ensembl Gene ENSMUSG00000060121
Gene Namegem nuclear organelle associated protein 2
Synonyms1700012N19Rik, Sip1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02394
Quality Score
Status
Chromosome12
Chromosomal Location59013393-59028470 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 59014056 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000021379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021375] [ENSMUST00000021379]
Predicted Effect probably benign
Transcript: ENSMUST00000021375
SMART Domains Protein: ENSMUSP00000021375
Gene: ENSMUSG00000020986

DomainStartEndE-ValueType
Pfam:zf-Sec23_Sec24 58 98 2.7e-17 PFAM
Pfam:Sec23_trunk 126 390 2e-81 PFAM
Pfam:Sec23_BS 401 504 3.2e-35 PFAM
Pfam:Sec23_helical 520 618 1e-30 PFAM
Pfam:Gelsolin 629 718 9.3e-17 PFAM
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: ENSMUST00000134223
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182188
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt3 G A 1: 177,059,419 T288M probably damaging Het
Baat A T 4: 49,489,812 probably benign Het
Bclaf3 A G X: 159,555,489 Y444C probably damaging Het
Bcs1l A G 1: 74,590,300 T166A probably damaging Het
Cep135 C T 5: 76,631,471 T776I probably benign Het
Clasrp A G 7: 19,603,254 L12P probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp4f15 A G 17: 32,692,635 I164V possibly damaging Het
Eps15 T A 4: 109,312,965 L155M probably damaging Het
Fbxl20 G A 11: 98,113,256 R69W probably damaging Het
Galnt9 A G 5: 110,615,499 M457V probably damaging Het
Gm20521 T A 14: 54,898,042 Y175N probably damaging Het
Gm3298 T A 14: 5,018,778 C178S probably benign Het
Gpr37l1 T C 1: 135,167,008 N166S probably damaging Het
Gpr45 A G 1: 43,030,112 probably benign Het
Gpr75 T C 11: 30,892,190 I365T possibly damaging Het
Gsdmc2 T C 15: 63,835,880 R22G probably damaging Het
Il23r T C 6: 67,466,272 probably benign Het
Itgam A T 7: 128,084,942 T340S probably benign Het
Klk1b24 A G 7: 44,191,870 D209G possibly damaging Het
Med13l A C 5: 118,748,833 T1600P probably benign Het
Muc16 G T 9: 18,498,700 H137Q probably damaging Het
Nin T C 12: 70,044,031 E870G probably damaging Het
Olfr1477 A G 19: 13,502,864 N174D probably damaging Het
Olfr360 A G 2: 37,068,485 Y60C probably damaging Het
Olfr811 A T 10: 129,802,313 F71I possibly damaging Het
Pkhd1 T C 1: 20,199,486 K3278R possibly damaging Het
Prlr A G 15: 10,328,578 N380D probably benign Het
Rpgr A C X: 10,166,217 S582R probably benign Het
Rph3a T C 5: 120,946,348 probably null Het
Setd5 A G 6: 113,110,898 H140R probably benign Het
Stoml3 C A 3: 53,498,119 probably benign Het
Teddm1a A C 1: 153,891,799 D3A probably benign Het
Tmem207 A G 16: 26,516,836 probably benign Het
Triml1 T A 8: 43,138,592 Q243L possibly damaging Het
Usp5 G A 6: 124,822,709 T274M probably damaging Het
Vav2 A G 2: 27,297,659 probably benign Het
Wdr5b A G 16: 36,042,263 N251D probably damaging Het
Wnk2 C A 13: 49,081,899 probably null Het
Other mutations in Gemin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02054:Gemin2 APN 12 59021737 critical splice donor site probably null
IGL02376:Gemin2 APN 12 59021720 missense probably benign
IGL03093:Gemin2 APN 12 59021725 missense probably benign 0.01
IGL03238:Gemin2 APN 12 59016962 splice site probably benign
R0462:Gemin2 UTSW 12 59013519 missense probably damaging 0.96
R1385:Gemin2 UTSW 12 59018146 intron probably null
R3080:Gemin2 UTSW 12 59025091 missense probably damaging 1.00
R4957:Gemin2 UTSW 12 59017168 missense probably benign 0.03
R6187:Gemin2 UTSW 12 59013585 missense probably damaging 0.99
Posted On2015-04-16