Incidental Mutation 'IGL02339:Gm5117'
ID 289008
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm5117
Ensembl Gene ENSMUSG00000093862
Gene Name predicted gene 5117
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.893) question?
Stock # IGL02339
Quality Score
Status
Chromosome 8
Chromosomal Location 31737208-31739760 bp(-) (GRCm38)
Type of Mutation exon
DNA Base Change (assembly) T to C at 31738226 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s):
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178878
SMART Domains Protein: ENSMUSP00000137046
Gene: ENSMUSG00000093862

DomainStartEndE-ValueType
low complexity region 147 158 N/A INTRINSIC
low complexity region 608 627 N/A INTRINSIC
Pfam:Met_10 666 799 1.5e-9 PFAM
Pfam:UPF0020 672 770 4e-8 PFAM
Pfam:Methyltransf_18 687 815 5e-10 PFAM
Pfam:Methyltransf_31 688 801 1.5e-10 PFAM
Pfam:Methyltransf_26 688 803 1e-8 PFAM
Pfam:Methyltransf_15 688 842 5e-48 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik A G 2: 130,739,465 S546P probably damaging Het
Aass C A 6: 23,093,966 V119F probably damaging Het
Abcg5 T C 17: 84,673,604 I186V possibly damaging Het
B4gat1 G A 19: 5,039,418 E148K probably benign Het
Ccr6 A T 17: 8,256,253 T97S probably benign Het
Cd209f A C 8: 4,104,483 probably null Het
Chst1 T A 2: 92,613,577 D131E possibly damaging Het
Dennd4a C T 9: 64,842,561 R145* probably null Het
Dnah6 A G 6: 73,101,898 Y2361H probably benign Het
Dpp6 C T 5: 27,652,230 T333I probably damaging Het
Glt8d1 C A 14: 31,008,810 T91K probably damaging Het
Gm4952 G A 19: 12,626,911 R229Q probably damaging Het
Gp5 T C 16: 30,309,190 E222G probably damaging Het
Herc2 T A 7: 56,121,722 D1077E probably benign Het
Hfe T C 13: 23,704,390 E171G probably damaging Het
Hsp90b1 A G 10: 86,701,814 V209A probably damaging Het
Ktn1 A T 14: 47,683,378 probably benign Het
Med13 T C 11: 86,288,939 I1394M probably benign Het
Meioc T G 11: 102,668,448 S65R probably benign Het
Myof T C 19: 37,972,213 Y460C possibly damaging Het
Olfr1276 A T 2: 111,257,243 T43S probably benign Het
Pms1 A G 1: 53,275,165 Y74H possibly damaging Het
Ptprn2 A C 12: 116,722,104 Q61P probably damaging Het
Rab29 A G 1: 131,872,142 T152A probably benign Het
Rest A G 5: 77,275,288 H313R probably damaging Het
Slc9a5 T C 8: 105,358,459 Y531H probably damaging Het
St3gal3 T C 4: 117,958,562 T148A probably damaging Het
Stxbp5 C T 10: 9,816,297 V368I possibly damaging Het
Taf1c T C 8: 119,604,280 D33G probably damaging Het
Trim38 G A 13: 23,788,230 R178Q probably damaging Het
Uvssa A T 5: 33,414,849 K704N probably damaging Het
Vmn1r69 G A 7: 10,580,718 Q29* probably null Het
Ypel2 T C 11: 86,940,603 D119G possibly damaging Het
Other mutations in Gm5117
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01022:Gm5117 APN 8 31738487 exon noncoding transcript
IGL01362:Gm5117 APN 8 31737919 exon noncoding transcript
IGL01972:Gm5117 APN 8 31737759 exon noncoding transcript
IGL02100:Gm5117 APN 8 31737384 exon noncoding transcript
IGL02366:Gm5117 APN 8 31737859 exon noncoding transcript
IGL02505:Gm5117 APN 8 31738316 exon noncoding transcript
IGL02698:Gm5117 APN 8 31739739 exon noncoding transcript
IGL03310:Gm5117 APN 8 31738808 exon noncoding transcript
IGL02835:Gm5117 UTSW 8 31737170 unclassified noncoding transcript
R1816:Gm5117 UTSW 8 31738958 exon noncoding transcript
R2157:Gm5117 UTSW 8 31738194 exon noncoding transcript
R2353:Gm5117 UTSW 8 31739195 exon noncoding transcript
R2404:Gm5117 UTSW 8 31737278 exon noncoding transcript
R2408:Gm5117 UTSW 8 31737278 exon noncoding transcript
R2409:Gm5117 UTSW 8 31737278 exon noncoding transcript
R2510:Gm5117 UTSW 8 31738355 exon noncoding transcript
R4686:Gm5117 UTSW 8 31739256 exon noncoding transcript
R4953:Gm5117 UTSW 8 31738580 exon noncoding transcript
R5244:Gm5117 UTSW 8 31738277 exon noncoding transcript
R5275:Gm5117 UTSW 8 31739567 exon noncoding transcript
R5329:Gm5117 UTSW 8 31737882 exon noncoding transcript
Posted On 2015-04-16