Incidental Mutation 'IGL02335:Gm5538'
ID 289705
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm5538
Ensembl Gene ENSMUSG00000090527
Gene Name predicted gene 5538
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # IGL02335
Quality Score
Status
Chromosome 3
Chromosomal Location 59729790-59752333 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 59743605 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 49 (M49I)
Ref Sequence ENSEMBL: ENSMUSP00000128877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168156]
AlphaFold W4VSP6
Predicted Effect probably benign
Transcript: ENSMUST00000168156
AA Change: M49I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128877
Gene: ENSMUSG00000090527
AA Change: M49I

DomainStartEndE-ValueType
transmembrane domain 5 22 N/A INTRINSIC
Pfam:DUF2424 70 214 9.3e-9 PFAM
Pfam:COesterase 91 236 5.4e-10 PFAM
Pfam:Abhydrolase_3 107 287 6.6e-36 PFAM
Pfam:Abhydrolase_3 271 375 1.4e-13 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik A T 7: 140,296,540 (GRCm38) N526Y probably damaging Het
A4gnt C T 9: 99,620,213 (GRCm38) T142I probably benign Het
Acaca A G 11: 84,214,258 (GRCm38) T147A possibly damaging Het
Agbl3 A G 6: 34,799,750 (GRCm38) D397G probably damaging Het
Ank1 C T 8: 23,135,638 (GRCm38) T1597M possibly damaging Het
Arl4d A G 11: 101,666,929 (GRCm38) T94A possibly damaging Het
Cd22 A G 7: 30,876,134 (GRCm38) I161T probably damaging Het
Clcn7 C T 17: 25,146,847 (GRCm38) L166F probably benign Het
Cnbd1 G T 4: 19,055,095 (GRCm38) N110K possibly damaging Het
Col14a1 A T 15: 55,463,769 (GRCm38) probably benign Het
Col6a6 C T 9: 105,784,101 (GRCm38) V270M probably damaging Het
Cox8b C A 7: 140,899,077 (GRCm38) G42W probably damaging Het
Csn1s1 A T 5: 87,680,845 (GRCm38) D275V probably benign Het
Cubn T A 2: 13,427,834 (GRCm38) probably null Het
Dctn2 T C 10: 127,275,821 (GRCm38) probably benign Het
Dnm1l A G 16: 16,342,740 (GRCm38) probably benign Het
Dpp4 T C 2: 62,334,644 (GRCm38) E687G probably benign Het
Fbxw20 T C 9: 109,223,309 (GRCm38) K249E possibly damaging Het
Fhl2 C T 1: 43,128,390 (GRCm38) W181* probably null Het
G2e3 T A 12: 51,369,158 (GRCm38) M559K probably benign Het
Gdap1l1 A T 2: 163,447,595 (GRCm38) Y160F possibly damaging Het
Gm1110 T C 9: 26,881,763 (GRCm38) I572M probably benign Het
Gpatch2l T A 12: 86,256,937 (GRCm38) probably benign Het
Kcnq4 A G 4: 120,715,854 (GRCm38) L250P probably damaging Het
Lamc2 A T 1: 153,166,216 (GRCm38) N57K probably benign Het
Lingo1 A G 9: 56,620,081 (GRCm38) L408P probably damaging Het
Mmrn1 A T 6: 60,977,147 (GRCm38) N804I possibly damaging Het
Mroh7 A G 4: 106,707,782 (GRCm38) L545S probably damaging Het
Nup188 T A 2: 30,323,636 (GRCm38) probably null Het
Olfr1442 T C 19: 12,674,238 (GRCm38) I11T probably damaging Het
Olfr1494 A G 19: 13,749,934 (GRCm38) D276G probably benign Het
Olfr96 A G 17: 37,225,326 (GRCm38) N67S probably damaging Het
Pls1 A T 9: 95,784,183 (GRCm38) N138K probably benign Het
Prkch C A 12: 73,702,512 (GRCm38) N345K probably benign Het
Reps1 T C 10: 18,056,117 (GRCm38) probably null Het
Rrp7a T C 15: 83,122,691 (GRCm38) E15G probably benign Het
Scn1a T A 2: 66,277,661 (GRCm38) T1557S possibly damaging Het
Smtn T C 11: 3,526,215 (GRCm38) E602G probably damaging Het
Syvn1 T C 19: 6,050,093 (GRCm38) probably null Het
Tbxas1 A G 6: 39,023,080 (GRCm38) D267G probably damaging Het
Topbp1 A G 9: 103,328,523 (GRCm38) N787D probably damaging Het
Vmn2r22 T G 6: 123,638,092 (GRCm38) S180R probably damaging Het
Zfp345 T A 2: 150,474,543 (GRCm38) E48D possibly damaging Het
Zfp608 G A 18: 54,897,437 (GRCm38) Q1144* probably null Het
Zfp936 T A 7: 43,187,267 (GRCm38) L34Q probably damaging Het
Other mutations in Gm5538
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:Gm5538 APN 3 59,752,121 (GRCm38) missense possibly damaging 0.91
IGL00934:Gm5538 APN 3 59,752,053 (GRCm38) missense probably benign 0.00
IGL02709:Gm5538 APN 3 59,747,198 (GRCm38) missense probably damaging 1.00
IGL03114:Gm5538 APN 3 59,743,723 (GRCm38) missense possibly damaging 0.55
R0107:Gm5538 UTSW 3 59,752,316 (GRCm38) missense possibly damaging 0.78
R0591:Gm5538 UTSW 3 59,752,129 (GRCm38) nonsense probably null
R0850:Gm5538 UTSW 3 59,752,248 (GRCm38) missense possibly damaging 0.80
R1127:Gm5538 UTSW 3 59,751,893 (GRCm38) missense probably benign 0.00
R1916:Gm5538 UTSW 3 59,745,503 (GRCm38) missense possibly damaging 0.48
R3008:Gm5538 UTSW 3 59,745,509 (GRCm38) missense possibly damaging 0.93
R3921:Gm5538 UTSW 3 59,752,077 (GRCm38) missense probably damaging 0.98
R4368:Gm5538 UTSW 3 59,751,966 (GRCm38) missense probably damaging 1.00
R5240:Gm5538 UTSW 3 59,752,028 (GRCm38) missense probably damaging 0.99
R5268:Gm5538 UTSW 3 59,752,023 (GRCm38) missense probably damaging 0.99
R5511:Gm5538 UTSW 3 59,747,264 (GRCm38) missense probably damaging 1.00
R5564:Gm5538 UTSW 3 59,752,092 (GRCm38) missense probably benign
R5812:Gm5538 UTSW 3 59,747,272 (GRCm38) missense probably damaging 1.00
R5981:Gm5538 UTSW 3 59,751,878 (GRCm38) missense probably benign
R6049:Gm5538 UTSW 3 59,752,149 (GRCm38) missense probably damaging 1.00
R6195:Gm5538 UTSW 3 59,752,202 (GRCm38) missense probably damaging 0.98
R6353:Gm5538 UTSW 3 59,752,108 (GRCm38) missense probably damaging 1.00
R6449:Gm5538 UTSW 3 59,745,551 (GRCm38) missense probably damaging 1.00
R6845:Gm5538 UTSW 3 59,752,118 (GRCm38) missense probably damaging 1.00
R7382:Gm5538 UTSW 3 59,743,616 (GRCm38) missense probably benign 0.18
R7585:Gm5538 UTSW 3 59,743,722 (GRCm38) missense possibly damaging 0.94
R7827:Gm5538 UTSW 3 59,743,691 (GRCm38) missense probably damaging 0.99
R7844:Gm5538 UTSW 3 59,729,897 (GRCm38) missense probably benign 0.32
R8308:Gm5538 UTSW 3 59,752,149 (GRCm38) missense probably damaging 1.00
R8830:Gm5538 UTSW 3 59,747,323 (GRCm38) missense probably benign 0.03
R9447:Gm5538 UTSW 3 59,743,630 (GRCm38) missense probably damaging 0.96
R9557:Gm5538 UTSW 3 59,751,739 (GRCm38) missense possibly damaging 0.89
Z1176:Gm5538 UTSW 3 59,747,194 (GRCm38) missense probably benign 0.08
Posted On 2015-04-16