Incidental Mutation 'IGL01654:Gemin4'
ID102922
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gemin4
Ensembl Gene ENSMUSG00000049396
Gene Namegem nuclear organelle associated protein 4
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.955) question?
Stock #IGL01654
Quality Score
Status
Chromosome11
Chromosomal Location76210571-76217664 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 76213398 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Histidine at position 179 (L179H)
Ref Sequence ENSEMBL: ENSMUSP00000099558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040806] [ENSMUST00000094014] [ENSMUST00000102500] [ENSMUST00000169560] [ENSMUST00000169701]
Predicted Effect probably benign
Transcript: ENSMUST00000040806
SMART Domains Protein: ENSMUSP00000039763
Gene: ENSMUSG00000038057

DomainStartEndE-ValueType
Pfam:ACBP 3 83 7.4e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094014
SMART Domains Protein: ENSMUSP00000091553
Gene: ENSMUSG00000069808

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
TLC 33 249 7.47e-34 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102500
AA Change: L179H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169532
Predicted Effect probably benign
Transcript: ENSMUST00000169560
SMART Domains Protein: ENSMUSP00000131151
Gene: ENSMUSG00000069808

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
TLC 33 217 4.92e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169701
SMART Domains Protein: ENSMUSP00000131174
Gene: ENSMUSG00000017286

DomainStartEndE-ValueType
Pfam:Glyoxalase_2 143 256 2.7e-8 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele die before E5.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,953,340 E68V probably damaging Het
Abcb1a T C 5: 8,715,065 probably null Het
Abcg2 T A 6: 58,683,321 probably null Het
Adgrf5 T C 17: 43,451,170 I1252T possibly damaging Het
Apol10b A T 15: 77,588,796 D19E probably benign Het
Bbs9 T A 9: 22,490,942 probably null Het
Bod1l T C 5: 41,818,176 T1932A probably damaging Het
C2cd5 A G 6: 143,081,407 V124A probably benign Het
Cd151 T A 7: 141,470,362 I170N probably benign Het
Ckap5 C T 2: 91,577,609 H827Y probably benign Het
Clk3 C T 9: 57,751,763 V572M probably damaging Het
Ddrgk1 T C 2: 130,654,709 D245G probably damaging Het
Enpp5 A G 17: 44,081,175 D165G possibly damaging Het
Epha6 A C 16: 59,839,303 N817K probably benign Het
Fbxw14 T C 9: 109,286,580 probably benign Het
Fes C T 7: 80,386,810 probably null Het
Gm3327 A G 14: 44,124,860 E72G unknown Het
Gm4847 C T 1: 166,638,348 R224Q probably damaging Het
Lonp2 T C 8: 86,714,086 V357A probably damaging Het
Mc2r A G 18: 68,408,072 I50T probably benign Het
Mmp19 C T 10: 128,798,520 A310V probably damaging Het
Naip6 C T 13: 100,299,345 R890Q probably benign Het
Npdc1 T C 2: 25,407,637 S101P possibly damaging Het
Phldb1 T C 9: 44,718,357 probably null Het
Pkd2l1 T C 19: 44,154,223 N460S probably damaging Het
Pnpo A G 11: 96,943,729 probably null Het
Prkcq A T 2: 11,283,843 T536S probably damaging Het
Rft1 T A 14: 30,676,880 V269E probably damaging Het
Skint4 A T 4: 112,120,057 I215F probably damaging Het
Slc12a5 G A 2: 164,973,755 D41N possibly damaging Het
Srp68 T C 11: 116,247,812 probably benign Het
Wdr17 T C 8: 54,662,879 T623A probably damaging Het
Zfand2a A G 5: 139,482,068 probably benign Het
Zfp644 T C 5: 106,635,930 Y917C probably damaging Het
Zmym6 C T 4: 127,123,726 S1008L probably damaging Het
Other mutations in Gemin4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01412:Gemin4 APN 11 76213485 missense probably benign 0.16
IGL01656:Gemin4 APN 11 76213810 missense probably damaging 1.00
IGL02890:Gemin4 APN 11 76211264 missense probably damaging 1.00
IGL02967:Gemin4 APN 11 76212241 missense probably damaging 1.00
R0359:Gemin4 UTSW 11 76212162 missense probably benign 0.02
R0413:Gemin4 UTSW 11 76211322 missense probably benign 0.00
R1538:Gemin4 UTSW 11 76211161 missense probably benign 0.00
R1632:Gemin4 UTSW 11 76210989 missense probably benign 0.26
R1762:Gemin4 UTSW 11 76211050 missense probably damaging 1.00
R1783:Gemin4 UTSW 11 76211050 missense probably damaging 1.00
R1784:Gemin4 UTSW 11 76211050 missense probably damaging 1.00
R1785:Gemin4 UTSW 11 76211050 missense probably damaging 1.00
R1786:Gemin4 UTSW 11 76211050 missense probably damaging 1.00
R1835:Gemin4 UTSW 11 76213296 missense possibly damaging 0.62
R2007:Gemin4 UTSW 11 76212618 missense possibly damaging 0.78
R2117:Gemin4 UTSW 11 76211001 missense possibly damaging 0.59
R2131:Gemin4 UTSW 11 76211050 missense probably damaging 1.00
R2133:Gemin4 UTSW 11 76211050 missense probably damaging 1.00
R2140:Gemin4 UTSW 11 76211050 missense probably damaging 1.00
R2141:Gemin4 UTSW 11 76211050 missense probably damaging 1.00
R2142:Gemin4 UTSW 11 76211050 missense probably damaging 1.00
R3937:Gemin4 UTSW 11 76212888 missense probably damaging 1.00
R4112:Gemin4 UTSW 11 76212819 missense probably damaging 0.99
R4444:Gemin4 UTSW 11 76212091 missense probably benign 0.00
R5502:Gemin4 UTSW 11 76213401 nonsense probably null
R5702:Gemin4 UTSW 11 76210837 missense probably benign 0.01
R5744:Gemin4 UTSW 11 76212165 missense probably damaging 1.00
R6044:Gemin4 UTSW 11 76212934 missense probably benign
R6924:Gemin4 UTSW 11 76212336 missense probably damaging 1.00
R6931:Gemin4 UTSW 11 76210956 missense probably damaging 0.99
R7278:Gemin4 UTSW 11 76212106 missense probably damaging 0.98
R7286:Gemin4 UTSW 11 76212753 missense probably damaging 0.96
R7288:Gemin4 UTSW 11 76213380 missense possibly damaging 0.60
R7358:Gemin4 UTSW 11 76213452 nonsense probably null
R7572:Gemin4 UTSW 11 76213582 missense probably damaging 1.00
Z1176:Gemin4 UTSW 11 76217579 unclassified probably benign
Posted On2014-01-21