Incidental Mutation 'R7288:Gemin4'
ID 566178
Institutional Source Beutler Lab
Gene Symbol Gemin4
Ensembl Gene ENSMUSG00000049396
Gene Name gem nuclear organelle associated protein 4
Synonyms
MMRRC Submission 045395-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R7288 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 76101397-76108398 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76104206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 185 (M185K)
Ref Sequence ENSEMBL: ENSMUSP00000099558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040806] [ENSMUST00000094014] [ENSMUST00000102500] [ENSMUST00000169560] [ENSMUST00000169701]
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 possibly damaging
Transcript: ENSMUST00000102500
AA Change: M185K

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T A 11: 58,771,131 (GRCm39) D204E probably benign Het
Adh1 T G 3: 137,988,493 (GRCm39) D155E probably benign Het
Akt1s1 T C 7: 44,498,571 (GRCm39) L2P unknown Het
Ash1l T A 3: 88,873,199 (GRCm39) probably benign Het
Bend7 C T 2: 4,757,641 (GRCm39) P228S probably damaging Het
Bpifc T C 10: 85,824,585 (GRCm39) E218G possibly damaging Het
Cdk6 T A 5: 3,479,001 (GRCm39) F127Y probably benign Het
Cgnl1 A T 9: 71,632,846 (GRCm39) H168Q possibly damaging Het
Chd7 C T 4: 8,847,093 (GRCm39) T1612I possibly damaging Het
Col4a4 A T 1: 82,470,184 (GRCm39) C782S unknown Het
Copg2 T A 6: 30,801,341 (GRCm39) I364L probably damaging Het
Crygb A G 1: 65,121,084 (GRCm39) L81P probably benign Het
Cyp4f18 A T 8: 72,747,017 (GRCm39) M326K probably damaging Het
Dhx34 A G 7: 15,949,361 (GRCm39) S356P probably benign Het
Dmbt1 C T 7: 130,685,519 (GRCm39) Q855* probably null Het
Dnai3 T C 3: 145,787,007 (GRCm39) T343A probably damaging Het
Dnph1 A G 17: 46,809,938 (GRCm39) N160S probably benign Het
Esrra A T 19: 6,890,139 (GRCm39) C228* probably null Het
Evpl T C 11: 116,114,775 (GRCm39) N972D probably benign Het
Fat3 T C 9: 15,909,888 (GRCm39) D2038G probably damaging Het
Fhit T A 14: 9,763,784 (GRCm38) R102W probably damaging Het
Gal3st1 A T 11: 3,948,609 (GRCm39) D272V probably damaging Het
Gal3st1 T A 11: 3,948,651 (GRCm39) V286D probably damaging Het
Hecw1 T C 13: 14,490,821 (GRCm39) I311V probably benign Het
Ift172 T C 5: 31,442,630 (GRCm39) Y179C probably damaging Het
Ighv7-3 C T 12: 114,116,963 (GRCm39) W66* probably null Het
Iqgap3 T A 3: 88,016,142 (GRCm39) I975N probably damaging Het
Khdrbs3 A G 15: 68,921,262 (GRCm39) E281G possibly damaging Het
Lamb2 A T 9: 108,365,523 (GRCm39) T1369S probably benign Het
Mettl8 A T 2: 70,812,382 (GRCm39) D84E probably benign Het
Mrgprb3 C A 7: 48,293,059 (GRCm39) C164F probably damaging Het
Mtg2 A G 2: 179,725,180 (GRCm39) Y131C probably damaging Het
Nacc1 C T 8: 85,403,174 (GRCm39) A234T probably benign Het
Nsmaf C T 4: 6,416,641 (GRCm39) V551I probably benign Het
Or13a26 T A 7: 140,284,942 (GRCm39) C259* probably null Het
Or7e175 T A 9: 20,048,737 (GRCm39) Y108* probably null Het
Oxr1 C T 15: 41,677,004 (GRCm39) P187L not run Het
Pcdhb12 T A 18: 37,569,068 (GRCm39) D71E probably benign Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Pkm A G 9: 59,576,196 (GRCm39) S127G probably benign Het
Plxna2 T A 1: 194,479,227 (GRCm39) L1296H probably damaging Het
Ppil6 C G 10: 41,374,524 (GRCm39) T135R probably benign Het
Ppp2r3d T C 9: 101,004,203 (GRCm39) Y378C probably damaging Het
Rabep2 C T 7: 126,043,377 (GRCm39) R426C probably damaging Het
Rad21 A T 15: 51,845,976 (GRCm39) H31Q possibly damaging Het
Rad50 G T 11: 53,545,776 (GRCm39) Y1182* probably null Het
Serpinb9c C T 13: 33,335,883 (GRCm39) A218T possibly damaging Het
Slc34a1 C A 13: 24,003,095 (GRCm39) H248Q probably benign Het
Slc45a4 C A 15: 73,458,785 (GRCm39) E255* probably null Het
Slc8a3 T A 12: 81,263,598 (GRCm39) K596N possibly damaging Het
Tbc1d32 A C 10: 55,927,483 (GRCm39) probably null Het
Tbl2 T A 5: 135,183,253 (GRCm39) I112N possibly damaging Het
Tchp A C 5: 114,853,630 (GRCm39) K238T probably damaging Het
Tfap2d G A 1: 19,189,207 (GRCm39) G251D probably damaging Het
Thrb T A 14: 18,030,186 (GRCm38) M324K probably damaging Het
Tmem259 A T 10: 79,814,300 (GRCm39) L328Q probably damaging Het
Tmtc2 T C 10: 105,249,469 (GRCm39) H88R probably damaging Het
Tnfrsf21 A G 17: 43,348,709 (GRCm39) H107R possibly damaging Het
Trib1 T C 15: 59,526,471 (GRCm39) V347A probably benign Het
Ung T A 5: 114,269,315 (GRCm39) L9* probably null Het
Vmn1r195 G T 13: 22,463,174 (GRCm39) V215F probably damaging Het
Wdr90 A G 17: 26,065,286 (GRCm39) S1657P probably benign Het
Wdsub1 A T 2: 59,708,487 (GRCm39) Y129N possibly damaging Het
Zfp369 T G 13: 65,432,832 (GRCm39) probably null Het
Zfp770 G T 2: 114,026,142 (GRCm39) C642* probably null Het
Zfp981 C T 4: 146,622,100 (GRCm39) R342C probably benign Het
Zhx3 A C 2: 160,623,042 (GRCm39) V375G probably 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
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
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'- AGCATGTCAGCCAAGTTAGC -3'
(R):5'- AGCTGCTCAAGTCTCTGGAAG -3'

Sequencing Primer
(F):5'- GTTAGCTAAGGCACAGCACTTCATTC -3'
(R):5'- CAAGTCTCTGGAAGCTTCTGGAC -3'
Posted On 2019-06-26