Incidental Mutation 'R4444:Gemin4'
ID 329807
Institutional Source Beutler Lab
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 # R4444 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 76101397-76108398 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76102917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 615 (F615L)
Ref Sequence ENSEMBL: ENSMUSP00000099558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094014] [ENSMUST00000102500] [ENSMUST00000129853] [ENSMUST00000169701] [ENSMUST00000169560]
AlphaFold Q6P6L6
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: F615L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127340
Predicted Effect probably benign
Transcript: ENSMUST00000129853
SMART Domains Protein: ENSMUSP00000114936
Gene: ENSMUSG00000069808

DomainStartEndE-ValueType
TLC 1 166 6.2e-8 SMART
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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 G T 7: 45,785,618 (GRCm39) T695N probably benign Het
Cdkl2 G A 5: 92,168,168 (GRCm39) T342I probably benign Het
Cntn5 C A 9: 9,704,947 (GRCm39) E822D probably damaging Het
Cysltr2 G A 14: 73,267,333 (GRCm39) H126Y possibly damaging Het
Dlg2 T C 7: 91,737,801 (GRCm39) S428P probably damaging Het
Egfr A G 11: 16,821,027 (GRCm39) D314G probably benign Het
Ercc5 GAAAA GAAAAA 1: 44,197,369 (GRCm39) probably null Het
Ggn A G 7: 28,871,585 (GRCm39) T322A probably benign Het
Hunk C T 16: 90,229,679 (GRCm39) A180V probably benign Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Myo1b A T 1: 51,797,078 (GRCm39) I988N probably damaging Het
Nlrp4e A G 7: 23,020,652 (GRCm39) I380V probably benign Het
Or2ag1b T A 7: 106,288,353 (GRCm39) Y195F possibly damaging Het
Plb1 G A 5: 32,487,909 (GRCm39) V930I probably benign Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Retreg1 T G 15: 25,968,530 (GRCm39) probably null Het
Rnf13 A C 3: 57,728,010 (GRCm39) K230T probably damaging Het
Rpl9-ps1 T C 11: 83,536,207 (GRCm39) I81V possibly damaging Het
Slco1c1 A G 6: 141,492,417 (GRCm39) T267A possibly damaging Het
Spc25 A T 2: 69,035,220 (GRCm39) M47K probably benign Het
Syne2 A G 12: 76,069,804 (GRCm39) E4377G probably damaging Het
Usp34 A G 11: 23,385,998 (GRCm39) T2142A probably damaging Het
Zc3h7a A G 16: 10,968,457 (GRCm39) probably null Het
Zfp169 T A 13: 48,643,813 (GRCm39) K438M possibly damaging Het
Other mutations in Gemin4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01412:Gemin4 APN 11 76,104,311 (GRCm39) missense probably benign 0.16
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
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
Predicted Primers PCR Primer
(F):5'- ATACTCTTCCAGGCCTGCATTG -3'
(R):5'- TCCTGAACCCAGAAGTTGTGG -3'

Sequencing Primer
(F):5'- CGAGGGTCTGGATGAAGAGCTTC -3'
(R):5'- CTGAACCCAGAAGTTGTGGTGAAG -3'
Posted On 2015-07-21