Incidental Mutation 'R7286:Gemin4'
ID 566029
Institutional Source Beutler Lab
Gene Symbol Gemin4
Ensembl Gene ENSMUSG00000049396
Gene Name gem nuclear organelle associated protein 4
Synonyms
MMRRC Submission 045394-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R7286 (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 C at 76103579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 394 (L394R)
Ref Sequence ENSEMBL: ENSMUSP00000099558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040806] [ENSMUST00000094014] [ENSMUST00000102500] [ENSMUST00000129853] [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 probably damaging
Transcript: ENSMUST00000102500
AA Change: L394R

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000129853
SMART Domains Protein: ENSMUSP00000114936
Gene: ENSMUSG00000069808

DomainStartEndE-ValueType
TLC 1 166 6.2e-8 SMART
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: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A T 9: 53,334,317 (GRCm39) M187L possibly damaging Het
9930012K11Rik T C 14: 70,394,686 (GRCm39) E156G possibly damaging Het
Acad9 C T 3: 36,130,139 (GRCm39) A194V probably damaging Het
Agps T A 2: 75,683,128 (GRCm39) V151E probably benign Het
Ak9 A T 10: 41,283,367 (GRCm39) I1273L Het
Akr1c19 T A 13: 4,296,818 (GRCm39) L288Q probably damaging Het
Carmil1 T G 13: 24,197,377 (GRCm39) D1353A probably damaging Het
Ccz1 T A 5: 143,949,897 (GRCm39) I43F probably damaging Het
Cep70 G A 9: 99,157,638 (GRCm39) C179Y probably damaging Het
Comt A T 16: 18,229,440 (GRCm39) L196H probably damaging Het
Cspg5 A T 9: 110,076,023 (GRCm39) D253V probably damaging Het
Dars2 A G 1: 160,874,378 (GRCm39) V437A possibly damaging Het
Dcaf5 A G 12: 80,395,164 (GRCm39) I335T probably damaging Het
Ddn T C 15: 98,703,906 (GRCm39) K462R possibly damaging Het
Dscaml1 T C 9: 45,654,044 (GRCm39) probably null Het
Eef1ece2 T C 16: 20,451,341 (GRCm39) S325P probably benign Het
Ethe1 A G 7: 24,307,377 (GRCm39) Y197C probably damaging Het
Evc A T 5: 37,479,527 (GRCm39) L269* probably null Het
Fam161a T C 11: 22,970,001 (GRCm39) S60P possibly damaging Het
Fam20b A G 1: 156,509,012 (GRCm39) V400A probably benign Het
Fam53b T A 7: 132,361,390 (GRCm39) S213C possibly damaging Het
Flot2 A G 11: 77,945,612 (GRCm39) I45V probably benign Het
Glis2 T G 16: 4,429,182 (GRCm39) S128R possibly damaging Het
Gm3696 A G 14: 18,435,009 (GRCm39) Y92H probably damaging Het
Gpbp1l1 T C 4: 116,447,442 (GRCm39) V374A probably benign Het
Grm1 T C 10: 10,565,440 (GRCm39) N956S probably benign Het
Hbb-bh1 T C 7: 103,492,238 (GRCm39) E27G probably damaging Het
Hmcn1 A T 1: 150,458,088 (GRCm39) C5233S probably damaging Het
Hmgcr C T 13: 96,803,105 (GRCm39) C30Y probably damaging Het
Hoxb6 A G 11: 96,183,651 (GRCm39) probably benign Het
Igf2 T C 7: 142,209,555 (GRCm39) Q35R possibly damaging Het
Ighv1-4 C T 12: 114,450,941 (GRCm39) V56I probably benign Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Lmtk2 C T 5: 144,111,178 (GRCm39) Q633* probably null Het
Mesd T C 7: 83,544,957 (GRCm39) Y136H probably damaging Het
Mga T A 2: 119,795,269 (GRCm39) S2984R possibly damaging Het
Mkrn3 T C 7: 62,068,675 (GRCm39) N372S probably benign Het
Mtpap A G 18: 4,387,068 (GRCm39) I373V probably benign Het
Mycbp2 G A 14: 103,358,027 (GRCm39) T4589M probably damaging Het
Myh2 A G 11: 67,079,195 (GRCm39) Q921R probably benign Het
Myom1 A G 17: 71,352,544 (GRCm39) D324G possibly damaging Het
Nat10 T C 2: 103,584,514 (GRCm39) K88E probably benign Het
Ncapd3 A G 9: 26,981,254 (GRCm39) R915G probably damaging Het
Nek4 T C 14: 30,679,249 (GRCm39) Y190H probably damaging Het
Nfasc A C 1: 132,529,790 (GRCm39) Y797D probably damaging Het
Ngp A G 9: 110,249,978 (GRCm39) D92G probably benign Het
Nos2 A C 11: 78,820,680 (GRCm39) H95P probably damaging Het
Nr3c1 ACGTC ACGTCGTC 18: 39,619,513 (GRCm39) probably benign Het
Or10ag59 C T 2: 87,405,863 (GRCm39) T145I probably benign Het
Or5bw2 C A 7: 6,573,715 (GRCm39) H242N probably damaging Het
Or5p73 T C 7: 108,064,642 (GRCm39) I37T possibly damaging Het
Or5t18 A T 2: 86,636,967 (GRCm39) H125Q possibly damaging Het
Otogl T A 10: 107,606,471 (GRCm39) D2154V probably benign Het
Pdss1 T A 2: 22,825,653 (GRCm39) probably null Het
Pex5 A T 6: 124,375,022 (GRCm39) L609* probably null Het
Pglyrp4 C A 3: 90,640,281 (GRCm39) A177D probably damaging Het
Phactr4 A G 4: 132,104,489 (GRCm39) probably null Het
Phf8-ps T C 17: 33,284,501 (GRCm39) D767G probably benign Het
Pik3cd G C 4: 149,744,171 (GRCm39) N193K probably benign Het
Prr36 TACCTCTTC T 8: 4,265,163 (GRCm39) probably benign Het
Prss38 A T 11: 59,266,384 (GRCm39) W25R probably benign Het
Prss8 T A 7: 127,526,056 (GRCm39) Q189L probably damaging Het
Psd T A 19: 46,303,240 (GRCm39) D713V probably damaging Het
Rad51ap2 C T 12: 11,507,692 (GRCm39) T538I probably benign Het
Rarres1 T C 3: 67,422,517 (GRCm39) T78A probably benign Het
Rbl2 G T 8: 91,828,922 (GRCm39) G651* probably null Het
Rev3l A T 10: 39,699,601 (GRCm39) Q1366L probably damaging Het
Rundc1 T C 11: 101,320,413 (GRCm39) S215P probably benign Het
Sanbr A T 11: 23,572,479 (GRCm39) C130S probably benign Het
Scarf2 G A 16: 17,620,837 (GRCm39) W168* probably null Het
Sh2d7 A G 9: 54,448,186 (GRCm39) D69G possibly damaging Het
Slc26a4 A T 12: 31,579,527 (GRCm39) Y578* probably null Het
Slc2a9 A T 5: 38,610,538 (GRCm39) L87Q probably damaging Het
Slc39a10 A T 1: 46,849,230 (GRCm39) H795Q probably damaging Het
Spata13 C T 14: 60,993,871 (GRCm39) R1108W probably damaging Het
Sqle T C 15: 59,187,901 (GRCm39) S70P probably benign Het
Syncrip A T 9: 88,346,716 (GRCm39) F263I probably damaging Het
Synj2 T C 17: 6,088,220 (GRCm39) S1424P possibly damaging Het
Tax1bp3 A T 11: 73,071,941 (GRCm39) T89S possibly damaging Het
Tcaim G A 9: 122,648,092 (GRCm39) probably null Het
Tcp10c T C 17: 13,582,438 (GRCm39) I240T possibly damaging Het
Ttll8 G T 15: 88,801,442 (GRCm39) N415K probably benign Het
Tut7 T C 13: 59,969,463 (GRCm39) E144G probably benign Het
Ugcg T C 4: 59,217,111 (GRCm39) S212P possibly damaging Het
Vmn2r32 T C 7: 7,482,807 (GRCm39) K56E probably benign Het
Vmn2r55 T C 7: 12,386,000 (GRCm39) E660G probably damaging Het
Vmn2r7 T C 3: 64,598,301 (GRCm39) N752S probably benign Het
Vps54 T A 11: 21,225,005 (GRCm39) M167K probably benign Het
Vwa2 A C 19: 56,897,791 (GRCm39) M699L probably benign Het
Wdr59 A G 8: 112,192,494 (GRCm39) V689A Het
Whamm T G 7: 81,235,995 (GRCm39) N399K probably damaging Het
Zfp760 A G 17: 21,941,760 (GRCm39) K312E probably benign Het
Zkscan3 C A 13: 21,578,983 (GRCm39) V171L probably benign 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
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'- CCAAGTCTGGTTCTCTGAAGAGAG -3'
(R):5'- TACAACCTGCTGCAAGAGTG -3'

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