Incidental Mutation 'IGL01412:Gemin4'
ID 80085
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gemin4
Ensembl Gene ENSMUSG00000049396
Gene Name gem nuclear organelle associated protein 4
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # IGL01412
Quality Score
Status
Chromosome 11
Chromosomal Location 76101397-76108398 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76104311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 150 (V150D)
Ref Sequence ENSEMBL: ENSMUSP00000099558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040806] [ENSMUST00000094014] [ENSMUST00000102500] [ENSMUST00000169701] [ENSMUST00000169560]
AlphaFold Q6P6L6
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 benign
Transcript: ENSMUST00000102500
AA Change: V150D

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169532
Predicted Effect probably benign
Transcript: ENSMUST00000169701
SMART Domains Protein: ENSMUSP00000131174
Gene: ENSMUSG00000017286

DomainStartEndE-ValueType
Pfam:Glyoxalase_2 143 256 2.7e-8 PFAM
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
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik G A 15: 12,815,958 (GRCm39) Q222* probably null Het
Adamts2 A G 11: 50,686,230 (GRCm39) E1016G probably benign Het
Agmo G A 12: 37,452,140 (GRCm39) E269K possibly damaging Het
Agrn A T 4: 156,255,491 (GRCm39) probably benign Het
Alpk1 A T 3: 127,473,621 (GRCm39) L794Q possibly damaging Het
Asb14 T A 14: 26,637,022 (GRCm39) L588H probably damaging Het
Btbd16 A T 7: 130,407,549 (GRCm39) probably null Het
Cacna1h T C 17: 25,610,924 (GRCm39) K625E probably benign Het
Cdh23 T C 10: 60,150,473 (GRCm39) D2499G probably damaging Het
Cdhr2 A T 13: 54,873,707 (GRCm39) D687V probably damaging Het
Cops8 G T 1: 90,532,153 (GRCm39) L45F possibly damaging Het
D130043K22Rik A G 13: 25,071,843 (GRCm39) H929R probably damaging Het
Dnah12 A G 14: 26,492,962 (GRCm39) E1241G probably damaging Het
Dock4 T A 12: 40,780,040 (GRCm39) probably benign Het
Dsg1c A G 18: 20,380,518 (GRCm39) I8V probably benign Het
Dst T C 1: 34,281,701 (GRCm39) V5435A probably benign Het
Fat4 A G 3: 38,945,330 (GRCm39) I1408V probably benign Het
Fhit G T 14: 9,870,065 (GRCm38) H72N probably damaging Het
Foxp2 C A 6: 15,376,757 (GRCm39) probably benign Het
Fpgt T C 3: 154,792,359 (GRCm39) Q556R probably benign Het
Galntl6 T A 8: 58,230,328 (GRCm39) E30V probably damaging Het
Grm8 C T 6: 27,762,460 (GRCm39) R255H probably damaging Het
Hapln3 G A 7: 78,767,184 (GRCm39) probably null Het
Htt T A 5: 35,055,916 (GRCm39) L2609Q probably damaging Het
Igdcc4 A G 9: 65,021,731 (GRCm39) probably benign Het
Isx T C 8: 75,619,306 (GRCm39) L166P probably benign Het
Kcnt2 G A 1: 140,498,155 (GRCm39) M884I probably benign Het
Leo1 A G 9: 75,373,524 (GRCm39) N650D probably benign Het
Man1a A G 10: 53,950,810 (GRCm39) V195A probably benign Het
Map2k5 A T 9: 63,200,988 (GRCm39) I215N probably damaging Het
Mier2 A G 10: 79,377,014 (GRCm39) *542R probably null Het
Mrgbp T A 2: 180,225,209 (GRCm39) F55Y probably damaging Het
Nadsyn1 A T 7: 143,362,527 (GRCm39) probably null Het
Nedd9 A T 13: 41,469,262 (GRCm39) Y630* probably null Het
Nrp1 T C 8: 129,145,188 (GRCm39) probably benign Het
Or4k15b A G 14: 50,272,770 (GRCm39) I30T probably benign Het
Or51q1c T A 7: 103,652,842 (GRCm39) M120K probably damaging Het
Or52z12 A G 7: 103,234,114 (GRCm39) N295S probably damaging Het
Or5w17 A T 2: 87,583,461 (GRCm39) L292Q probably damaging Het
Or7g21 T A 9: 19,032,895 (GRCm39) C212S probably benign Het
Pcnx1 A T 12: 81,953,239 (GRCm39) I127F probably damaging Het
Pik3ap1 T C 19: 41,364,329 (GRCm39) E130G possibly damaging Het
Pkd1l1 G T 11: 8,900,409 (GRCm39) T44N possibly damaging Het
Polr1c A G 17: 46,555,135 (GRCm39) S226P probably damaging Het
Pramel28 A C 4: 143,691,565 (GRCm39) V386G probably damaging Het
Prep A G 10: 45,029,208 (GRCm39) Y536C probably damaging Het
Ptprb A G 10: 116,179,820 (GRCm39) T1413A probably benign Het
Pwwp3a T A 10: 80,070,163 (GRCm39) probably null Het
Ryr2 T A 13: 11,756,922 (GRCm39) K1577N probably benign Het
Selplg G T 5: 113,957,529 (GRCm39) T33K probably damaging Het
Slc26a5 T A 5: 22,020,734 (GRCm39) I505L probably damaging Het
Slc39a6 T C 18: 24,718,413 (GRCm39) N548S probably damaging Het
Sp7 T C 15: 102,267,798 (GRCm39) T3A possibly damaging Het
Tango6 T C 8: 107,545,131 (GRCm39) V998A probably benign Het
Tas2r130 A T 6: 131,607,473 (GRCm39) Y107* probably null Het
Tjp2 T C 19: 24,078,139 (GRCm39) E918G probably damaging Het
Trim12a C T 7: 103,956,202 (GRCm39) A113T probably benign Het
Zan T A 5: 137,391,294 (GRCm39) D4730V unknown Het
Zfp607a A T 7: 27,578,109 (GRCm39) D393V probably damaging Het
Other mutations in Gemin4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01654:Gemin4 APN 11 76,104,224 (GRCm39) missense probably damaging 1.00
IGL01656:Gemin4 APN 11 76,104,636 (GRCm39) missense probably damaging 1.00
IGL02890:Gemin4 APN 11 76,102,090 (GRCm39) missense probably damaging 1.00
IGL02967:Gemin4 APN 11 76,103,067 (GRCm39) missense probably damaging 1.00
R0359:Gemin4 UTSW 11 76,102,988 (GRCm39) missense probably benign 0.02
R0413:Gemin4 UTSW 11 76,102,148 (GRCm39) missense probably benign 0.00
R1538:Gemin4 UTSW 11 76,101,987 (GRCm39) missense probably benign 0.00
R1632:Gemin4 UTSW 11 76,101,815 (GRCm39) missense probably benign 0.26
R1762:Gemin4 UTSW 11 76,101,876 (GRCm39) missense probably damaging 1.00
R1783:Gemin4 UTSW 11 76,101,876 (GRCm39) missense probably damaging 1.00
R1784:Gemin4 UTSW 11 76,101,876 (GRCm39) missense probably damaging 1.00
R1785:Gemin4 UTSW 11 76,101,876 (GRCm39) missense probably damaging 1.00
R1786:Gemin4 UTSW 11 76,101,876 (GRCm39) missense probably damaging 1.00
R1835:Gemin4 UTSW 11 76,104,122 (GRCm39) missense possibly damaging 0.62
R2007:Gemin4 UTSW 11 76,103,444 (GRCm39) missense possibly damaging 0.78
R2117:Gemin4 UTSW 11 76,101,827 (GRCm39) missense possibly damaging 0.59
R2131:Gemin4 UTSW 11 76,101,876 (GRCm39) missense probably damaging 1.00
R2133:Gemin4 UTSW 11 76,101,876 (GRCm39) missense probably damaging 1.00
R2140:Gemin4 UTSW 11 76,101,876 (GRCm39) missense probably damaging 1.00
R2141:Gemin4 UTSW 11 76,101,876 (GRCm39) missense probably damaging 1.00
R2142:Gemin4 UTSW 11 76,101,876 (GRCm39) missense probably damaging 1.00
R3937:Gemin4 UTSW 11 76,103,714 (GRCm39) missense probably damaging 1.00
R4112:Gemin4 UTSW 11 76,103,645 (GRCm39) missense probably damaging 0.99
R4444:Gemin4 UTSW 11 76,102,917 (GRCm39) missense probably benign 0.00
R5502:Gemin4 UTSW 11 76,104,227 (GRCm39) nonsense probably null
R5702:Gemin4 UTSW 11 76,101,663 (GRCm39) missense probably benign 0.01
R5744:Gemin4 UTSW 11 76,102,991 (GRCm39) missense probably damaging 1.00
R6044:Gemin4 UTSW 11 76,103,760 (GRCm39) missense probably benign
R6924:Gemin4 UTSW 11 76,103,162 (GRCm39) missense probably damaging 1.00
R6931:Gemin4 UTSW 11 76,101,782 (GRCm39) missense probably damaging 0.99
R7278:Gemin4 UTSW 11 76,102,932 (GRCm39) missense probably damaging 0.98
R7286:Gemin4 UTSW 11 76,103,579 (GRCm39) missense probably damaging 0.96
R7288:Gemin4 UTSW 11 76,104,206 (GRCm39) missense possibly damaging 0.60
R7358:Gemin4 UTSW 11 76,104,278 (GRCm39) nonsense probably null
R7572:Gemin4 UTSW 11 76,104,408 (GRCm39) missense probably damaging 1.00
R8132:Gemin4 UTSW 11 76,103,739 (GRCm39) missense probably benign 0.25
R8345:Gemin4 UTSW 11 76,101,605 (GRCm39) missense probably damaging 1.00
R8695:Gemin4 UTSW 11 76,102,656 (GRCm39) missense probably damaging 1.00
R8902:Gemin4 UTSW 11 76,102,848 (GRCm39) nonsense probably null
R9233:Gemin4 UTSW 11 76,103,942 (GRCm39) missense possibly damaging 0.92
R9495:Gemin4 UTSW 11 76,101,749 (GRCm39) missense probably damaging 1.00
Z1176:Gemin4 UTSW 11 76,108,405 (GRCm39) unclassified probably benign
Posted On 2013-11-05