Incidental Mutation 'R1523:Gemin8'
ID 167683
Institutional Source Beutler Lab
Gene Symbol Gemin8
Ensembl Gene ENSMUSG00000040621
Gene Name gem nuclear organelle associated protein 8
Synonyms B130034M20Rik, B930082C09Rik
Accession Numbers
Essential gene? Not available question?
Stock # R1523 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 164953450-164973508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 164963644 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 100 (S100N)
Ref Sequence ENSEMBL: ENSMUSP00000131284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056410] [ENSMUST00000087169] [ENSMUST00000096252] [ENSMUST00000130880] [ENSMUST00000152248] [ENSMUST00000166440]
AlphaFold Q8BHE1
Predicted Effect probably benign
Transcript: ENSMUST00000056410
AA Change: S100N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000085137
Gene: ENSMUSG00000040621
AA Change: S100N

DomainStartEndE-ValueType
Pfam:GEMIN8 9 238 1.5e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000087169
AA Change: S100N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000084414
Gene: ENSMUSG00000040621
AA Change: S100N

DomainStartEndE-ValueType
Pfam:GEMIN8 9 238 1.5e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000096252
AA Change: S69N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093971
Gene: ENSMUSG00000040621
AA Change: S69N

DomainStartEndE-ValueType
Pfam:GEMIN8 1 207 7.7e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130880
AA Change: S100N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118482
Gene: ENSMUSG00000040621
AA Change: S100N

DomainStartEndE-ValueType
Pfam:GEMIN8 10 238 8.8e-111 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152248
AA Change: S100N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000131284
Gene: ENSMUSG00000040621
AA Change: S100N

DomainStartEndE-ValueType
Pfam:GEMIN8 9 186 5.4e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166440
AA Change: S100N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128502
Gene: ENSMUSG00000040621
AA Change: S100N

DomainStartEndE-ValueType
Pfam:GEMIN8 9 147 7.4e-35 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. The encoded protein binds to both SMN1 and the GEMIN6/GEMIN7 heterodimer, mediating their interaction. This protein is found in nuclear Gemini of Cajal bodies (gems) and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik G T 11: 83,331,232 (GRCm39) E48* probably null Het
4930503B20Rik A G 3: 146,356,864 (GRCm39) S15P probably damaging Het
5530400C23Rik A G 6: 133,271,256 (GRCm39) E100G possibly damaging Het
Abcg2 T C 6: 58,662,679 (GRCm39) F507S possibly damaging Het
Adgrf5 A T 17: 43,761,044 (GRCm39) Q913L probably benign Het
Ak7 A T 12: 105,732,867 (GRCm39) N537I probably benign Het
Anks1 T A 17: 28,270,629 (GRCm39) probably null Het
Arhgap32 T A 9: 32,168,048 (GRCm39) V677D probably damaging Het
Ark2c G A 18: 77,550,634 (GRCm39) T98I probably benign Het
Arnt C T 3: 95,396,965 (GRCm39) P466L possibly damaging Het
Arrb1 T G 7: 99,243,872 (GRCm39) L274R probably damaging Het
Atf2 A T 2: 73,693,552 (GRCm39) D3E probably damaging Het
Baz2b C T 2: 59,798,981 (GRCm39) R381Q possibly damaging Het
Cacna1g C T 11: 94,333,555 (GRCm39) probably null Het
Ccr10 C T 11: 101,064,501 (GRCm39) R343Q probably damaging Het
Clca3a2 G T 3: 144,777,405 (GRCm39) S822* probably null Het
Col12a1 A T 9: 79,568,278 (GRCm39) Y1649N probably benign Het
Col23a1 G A 11: 51,452,743 (GRCm39) probably null Het
Cp T C 3: 20,043,229 (GRCm39) Y1006H probably benign Het
Ctbs A G 3: 146,160,735 (GRCm39) T101A probably benign Het
Cyp4a31 T C 4: 115,426,951 (GRCm39) F170L probably benign Het
Dock1 A C 7: 134,345,976 (GRCm39) I173L possibly damaging Het
Dock4 A G 12: 40,743,024 (GRCm39) D393G possibly damaging Het
Dsg1a T A 18: 20,455,374 (GRCm39) S113T probably damaging Het
Epha3 T C 16: 63,431,311 (GRCm39) D530G probably damaging Het
Erbb4 T A 1: 68,435,411 (GRCm39) H162L possibly damaging Het
Fam131c C T 4: 141,110,142 (GRCm39) T180I probably benign Het
Fndc1 A G 17: 7,992,041 (GRCm39) S552P unknown Het
Foxf1 A G 8: 121,811,297 (GRCm39) probably null Het
Frem2 T C 3: 53,562,828 (GRCm39) T560A possibly damaging Het
Gabra4 G A 5: 71,790,975 (GRCm39) T289M probably damaging Het
Gcnt1 A G 19: 17,307,197 (GRCm39) V176A probably damaging Het
Gm1527 T C 3: 28,974,567 (GRCm39) I460T probably damaging Het
Gm6729 A G 10: 86,376,039 (GRCm39) noncoding transcript Het
Gprin2 T C 14: 33,917,036 (GRCm39) S245G probably benign Het
Gsdmc A T 15: 63,675,479 (GRCm39) I112N probably damaging Het
Hspb6 A G 7: 30,252,848 (GRCm39) D30G probably benign Het
Hydin A G 8: 111,259,903 (GRCm39) D2625G probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Irf2 T A 8: 47,290,875 (GRCm39) probably null Het
Kdm3b T C 18: 34,926,226 (GRCm39) probably null Het
Khdc3 G A 9: 73,010,773 (GRCm39) E208K possibly damaging Het
Kifc1 A T 17: 34,102,636 (GRCm39) S263T probably benign Het
Lrig3 C A 10: 125,844,567 (GRCm39) T677K probably damaging Het
Magec2 T A X: 61,334,512 (GRCm39) D177E probably benign Het
Mapkapk3 A T 9: 107,140,822 (GRCm39) probably null Het
Mertk T C 2: 128,632,248 (GRCm39) probably null Het
Metrn A G 17: 26,013,951 (GRCm39) *292R probably null Het
Mllt6 G T 11: 97,555,849 (GRCm39) A60S probably damaging Het
Mmp21 T C 7: 133,280,774 (GRCm39) I65M probably benign Het
Myo7b A G 18: 32,099,929 (GRCm39) L1651P probably damaging Het
Nhsl1 A G 10: 18,284,103 (GRCm39) S15G probably benign Het
Nos1ap T C 1: 170,165,687 (GRCm39) D192G probably benign Het
Nrcam A G 12: 44,619,032 (GRCm39) T844A probably damaging Het
Pax4 A G 6: 28,444,840 (GRCm39) L203P probably damaging Het
Pbld2 T C 10: 62,912,212 (GRCm39) I280T probably benign Het
Pclo A G 5: 14,838,420 (GRCm39) Y4681C unknown Het
Phyhip T A 14: 70,699,200 (GRCm39) M1K probably null Het
Plppr4 T C 3: 117,116,490 (GRCm39) N456D probably damaging Het
Prpf31 T C 7: 3,643,856 (GRCm39) Y473H probably damaging Het
Rapgef2 A T 3: 79,000,056 (GRCm39) V564D probably damaging Het
Rexo1 T C 10: 80,378,585 (GRCm39) S1123G probably benign Het
Rnasel C A 1: 153,631,759 (GRCm39) Q513K probably damaging Het
Rnf213 T C 11: 119,332,714 (GRCm39) V2641A probably damaging Het
Rnf40 G T 7: 127,189,787 (GRCm39) R184L probably damaging Het
Rnf8 A G 17: 29,845,946 (GRCm39) K179R probably damaging Het
Sipa1l2 C T 8: 126,174,352 (GRCm39) D1309N possibly damaging Het
Slc25a38 T A 9: 119,952,769 (GRCm39) M307K possibly damaging Het
Snx33 T C 9: 56,833,466 (GRCm39) D201G possibly damaging Het
Sulf1 T A 1: 12,887,574 (GRCm39) Y249* probably null Het
Sult2a4 G A 7: 13,643,785 (GRCm39) Q261* probably null Het
Syndig1 G A 2: 149,845,154 (GRCm39) A226T probably damaging Het
Tcaf2 C T 6: 42,601,385 (GRCm39) W891* probably null Het
Tcf15 C A 2: 151,985,808 (GRCm39) T88K probably damaging Het
Tmem19 A T 10: 115,183,122 (GRCm39) M117K probably damaging Het
Trim32 T C 4: 65,532,241 (GRCm39) L266P probably benign Het
Vmn2r11 T C 5: 109,201,707 (GRCm39) I266V probably benign Het
Vmn2r73 A T 7: 85,519,486 (GRCm39) Y491N probably benign Het
Wrn C T 8: 33,782,744 (GRCm39) E486K probably benign Het
Zfp457 T C 13: 67,441,501 (GRCm39) E262G probably damaging Het
Zfp598 A G 17: 24,897,603 (GRCm39) D308G probably null Het
Zup1 T C 10: 33,803,436 (GRCm39) I549M probably damaging Het
Predicted Primers PCR Primer
(F):5'- CACCAGAATGCCTACAGAAAGTTCAGG -3'
(R):5'- CCCAGAGAAAGCTGCATTGCAGAG -3'

Sequencing Primer
(F):5'- GGATTCCTATTTCACATCCCCG -3'
(R):5'- ctgatgctcacaaaatggtagg -3'
Posted On 2014-04-13