Incidental Mutation 'IGL02394:Gemin2'
ID 293945
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 # IGL02394
Quality Score
Status
Chromosome 12
Chromosomal Location 59060179-59075256 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 59060842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000021379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021375] [ENSMUST00000021379]
AlphaFold Q9CQQ4
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: 176,886,985 (GRCm39) T288M probably damaging Het
Baat A T 4: 49,489,812 (GRCm39) probably benign Het
Bclaf3 A G X: 158,338,485 (GRCm39) Y444C probably damaging Het
Bcs1l A G 1: 74,629,459 (GRCm39) T166A probably damaging Het
Cep135 C T 5: 76,779,318 (GRCm39) T776I probably benign Het
Clasrp A G 7: 19,337,179 (GRCm39) L12P probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp4f15 A G 17: 32,911,609 (GRCm39) I164V possibly damaging Het
Eps15 T A 4: 109,170,162 (GRCm39) L155M probably damaging Het
Fbxl20 G A 11: 98,004,082 (GRCm39) R69W probably damaging Het
Galnt9 A G 5: 110,763,365 (GRCm39) M457V probably damaging Het
Gm20521 T A 14: 55,135,499 (GRCm39) Y175N probably damaging Het
Gm3298 T A 14: 5,018,778 (GRCm38) C178S probably benign Het
Gpr37l1 T C 1: 135,094,746 (GRCm39) N166S probably damaging Het
Gpr45 A G 1: 43,069,272 (GRCm39) probably benign Het
Gpr75 T C 11: 30,842,190 (GRCm39) I365T possibly damaging Het
Gsdmc2 T C 15: 63,707,729 (GRCm39) R22G probably damaging Het
Il23r T C 6: 67,443,256 (GRCm39) probably benign Het
Itgam A T 7: 127,684,114 (GRCm39) T340S probably benign Het
Klk1b24 A G 7: 43,841,294 (GRCm39) D209G possibly damaging Het
Med13l A C 5: 118,886,898 (GRCm39) T1600P probably benign Het
Muc16 G T 9: 18,409,996 (GRCm39) H137Q probably damaging Het
Nin T C 12: 70,090,805 (GRCm39) E870G probably damaging Het
Or12k7 A G 2: 36,958,497 (GRCm39) Y60C probably damaging Het
Or5b120 A G 19: 13,480,228 (GRCm39) N174D probably damaging Het
Or6c215 A T 10: 129,638,182 (GRCm39) F71I possibly damaging Het
Pkhd1 T C 1: 20,269,710 (GRCm39) K3278R possibly damaging Het
Prlr A G 15: 10,328,664 (GRCm39) N380D probably benign Het
Rpgr A C X: 10,032,456 (GRCm39) S582R probably benign Het
Rph3a T C 5: 121,084,411 (GRCm39) probably null Het
Setd5 A G 6: 113,087,859 (GRCm39) H140R probably benign Het
Stoml3 C A 3: 53,405,540 (GRCm39) probably benign Het
Teddm1a A C 1: 153,767,545 (GRCm39) D3A probably benign Het
Tmem207 A G 16: 26,335,586 (GRCm39) probably benign Het
Triml1 T A 8: 43,591,629 (GRCm39) Q243L possibly damaging Het
Usp5 G A 6: 124,799,672 (GRCm39) T274M probably damaging Het
Vav2 A G 2: 27,187,671 (GRCm39) probably benign Het
Wdr5b A G 16: 35,862,633 (GRCm39) N251D probably damaging Het
Wnk2 C A 13: 49,235,375 (GRCm39) probably null 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
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