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
Is this an essential gene? Probably non essential (E-score: 0.086) 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 N526Y probably damaging Het
A4gnt C T 9: 99,620,213 T142I probably benign Het
Acaca A G 11: 84,214,258 T147A possibly damaging Het
Agbl3 A G 6: 34,799,750 D397G probably damaging Het
Ank1 C T 8: 23,135,638 T1597M possibly damaging Het
Arl4d A G 11: 101,666,929 T94A possibly damaging Het
Cd22 A G 7: 30,876,134 I161T probably damaging Het
Clcn7 C T 17: 25,146,847 L166F probably benign Het
Cnbd1 G T 4: 19,055,095 N110K possibly damaging Het
Col14a1 A T 15: 55,463,769 probably benign Het
Col6a6 C T 9: 105,784,101 V270M probably damaging Het
Cox8b C A 7: 140,899,077 G42W probably damaging Het
Csn1s1 A T 5: 87,680,845 D275V probably benign Het
Cubn T A 2: 13,427,834 probably null Het
Dctn2 T C 10: 127,275,821 probably benign Het
Dnm1l A G 16: 16,342,740 probably benign Het
Dpp4 T C 2: 62,334,644 E687G probably benign Het
Fbxw20 T C 9: 109,223,309 K249E possibly damaging Het
Fhl2 C T 1: 43,128,390 W181* probably null Het
G2e3 T A 12: 51,369,158 M559K probably benign Het
Gdap1l1 A T 2: 163,447,595 Y160F possibly damaging Het
Gm1110 T C 9: 26,881,763 I572M probably benign Het
Gpatch2l T A 12: 86,256,937 probably benign Het
Kcnq4 A G 4: 120,715,854 L250P probably damaging Het
Lamc2 A T 1: 153,166,216 N57K probably benign Het
Lingo1 A G 9: 56,620,081 L408P probably damaging Het
Mmrn1 A T 6: 60,977,147 N804I possibly damaging Het
Mroh7 A G 4: 106,707,782 L545S probably damaging Het
Nup188 T A 2: 30,323,636 probably null Het
Olfr1442 T C 19: 12,674,238 I11T probably damaging Het
Olfr1494 A G 19: 13,749,934 D276G probably benign Het
Olfr96 A G 17: 37,225,326 N67S probably damaging Het
Pls1 A T 9: 95,784,183 N138K probably benign Het
Prkch C A 12: 73,702,512 N345K probably benign Het
Reps1 T C 10: 18,056,117 probably null Het
Rrp7a T C 15: 83,122,691 E15G probably benign Het
Scn1a T A 2: 66,277,661 T1557S possibly damaging Het
Smtn T C 11: 3,526,215 E602G probably damaging Het
Syvn1 T C 19: 6,050,093 probably null Het
Tbxas1 A G 6: 39,023,080 D267G probably damaging Het
Topbp1 A G 9: 103,328,523 N787D probably damaging Het
Vmn2r22 T G 6: 123,638,092 S180R probably damaging Het
Zfp345 T A 2: 150,474,543 E48D possibly damaging Het
Zfp608 G A 18: 54,897,437 Q1144* probably null Het
Zfp936 T A 7: 43,187,267 L34Q probably damaging Het
Other mutations in Gm5538
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:Gm5538 APN 3 59752121 missense possibly damaging 0.91
IGL00934:Gm5538 APN 3 59752053 missense probably benign 0.00
IGL02709:Gm5538 APN 3 59747198 missense probably damaging 1.00
IGL03114:Gm5538 APN 3 59743723 missense possibly damaging 0.55
R0107:Gm5538 UTSW 3 59752316 missense possibly damaging 0.78
R0591:Gm5538 UTSW 3 59752129 nonsense probably null
R0850:Gm5538 UTSW 3 59752248 missense possibly damaging 0.80
R1127:Gm5538 UTSW 3 59751893 missense probably benign 0.00
R1916:Gm5538 UTSW 3 59745503 missense possibly damaging 0.48
R3008:Gm5538 UTSW 3 59745509 missense possibly damaging 0.93
R3921:Gm5538 UTSW 3 59752077 missense probably damaging 0.98
R4368:Gm5538 UTSW 3 59751966 missense probably damaging 1.00
R5240:Gm5538 UTSW 3 59752028 missense probably damaging 0.99
R5268:Gm5538 UTSW 3 59752023 missense probably damaging 0.99
R5511:Gm5538 UTSW 3 59747264 missense probably damaging 1.00
R5564:Gm5538 UTSW 3 59752092 missense probably benign
R5812:Gm5538 UTSW 3 59747272 missense probably damaging 1.00
R5981:Gm5538 UTSW 3 59751878 missense probably benign
R6049:Gm5538 UTSW 3 59752149 missense probably damaging 1.00
R6195:Gm5538 UTSW 3 59752202 missense probably damaging 0.98
R6353:Gm5538 UTSW 3 59752108 missense probably damaging 1.00
R6449:Gm5538 UTSW 3 59745551 missense probably damaging 1.00
R6845:Gm5538 UTSW 3 59752118 missense probably damaging 1.00
R7382:Gm5538 UTSW 3 59743616 missense probably benign 0.18
R7585:Gm5538 UTSW 3 59743722 missense possibly damaging 0.94
R7827:Gm5538 UTSW 3 59743691 missense probably damaging 0.99
R7844:Gm5538 UTSW 3 59729897 missense probably benign 0.32
R8308:Gm5538 UTSW 3 59752149 missense probably damaging 1.00
R8830:Gm5538 UTSW 3 59747323 missense probably benign 0.03
R9447:Gm5538 UTSW 3 59743630 missense probably damaging 0.96
R9557:Gm5538 UTSW 3 59751739 missense possibly damaging 0.89
Z1176:Gm5538 UTSW 3 59747194 missense probably benign 0.08
Posted On 2015-04-16