Incidental Mutation 'IGL00790:Them5'
ID14452
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Them5
Ensembl Gene ENSMUSG00000028148
Gene Namethioesterase superfamily member 5
Synonyms1110007B02Rik, 1110038F21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL00790
Quality Score
Status
Chromosome3
Chromosomal Location94342099-94347352 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 94343409 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 93 (D93V)
Ref Sequence ENSEMBL: ENSMUSP00000142808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029794] [ENSMUST00000198083]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029794
AA Change: D93V

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029794
Gene: ENSMUSG00000028148
AA Change: D93V

DomainStartEndE-ValueType
Pfam:4HBT 154 229 2e-7 PFAM
low complexity region 237 248 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000198083
AA Change: D93V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142808
Gene: ENSMUSG00000028148
AA Change: D93V

DomainStartEndE-ValueType
Pfam:4HBT 154 229 7.4e-5 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knockout of this gene have abnormal mitochondria and display defects in mitochondrial respiration and in lipid metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik A G 17: 33,067,387 V147A probably damaging Het
AC139131.1 T G 7: 12,494,232 M702R probably damaging Het
Ankrd12 A T 17: 65,984,180 N1419K probably benign Het
Arhgef18 A G 8: 3,429,553 E79G probably damaging Het
Art4 T A 6: 136,854,495 Q216L probably damaging Het
Bbs4 T C 9: 59,324,065 D407G probably benign Het
Cherp A G 8: 72,468,246 I277T probably damaging Het
Cnot2 A G 10: 116,507,071 M119T probably benign Het
Disp2 T A 2: 118,786,278 C73S probably damaging Het
Dock4 T C 12: 40,834,391 S1686P probably damaging Het
Dsc1 C T 18: 20,094,896 G468S probably damaging Het
Duox2 T A 2: 122,292,300 D551V possibly damaging Het
Gmip T A 8: 69,817,011 Y585* probably null Het
Gnal A G 18: 67,134,289 probably null Het
Idh1 T G 1: 65,166,122 Q228P possibly damaging Het
Igsf10 A T 3: 59,319,517 I2245N probably damaging Het
Mrgpra4 A T 7: 47,981,304 M183K possibly damaging Het
Npr2 T A 4: 43,641,612 V472D possibly damaging Het
Pcdh7 A T 5: 57,721,464 N787I probably damaging Het
Ppp1r10 A T 17: 35,924,859 N111I probably damaging Het
Ppp3ca A G 3: 136,935,181 N508D probably benign Het
Rgs17 A G 10: 5,862,624 Q25P possibly damaging Het
Slco6d1 T A 1: 98,421,200 probably benign Het
Tab3 T A X: 85,621,604 N591K probably damaging Het
Tfcp2 T C 15: 100,513,178 probably benign Het
Thoc5 T G 11: 4,918,147 V275G probably damaging Het
Trmt1l T C 1: 151,442,712 probably null Het
Zdbf2 G T 1: 63,306,514 V1351F possibly damaging Het
Zfp14 G T 7: 30,038,887 Y224* probably null Het
Other mutations in Them5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Them5 APN 3 94346189 missense possibly damaging 0.50
IGL00813:Them5 APN 3 94343288 missense probably damaging 1.00
IGL02100:Them5 APN 3 94344475 missense probably damaging 1.00
R0668:Them5 UTSW 3 94344413 missense probably benign 0.11
R1616:Them5 UTSW 3 94346260 critical splice donor site probably null
R1782:Them5 UTSW 3 94344489 missense probably benign 0.10
R4322:Them5 UTSW 3 94346156 missense probably damaging 1.00
R5789:Them5 UTSW 3 94346601 missense probably damaging 1.00
R7853:Them5 UTSW 3 94343296 nonsense probably null
R7911:Them5 UTSW 3 94346189 missense possibly damaging 0.50
R7936:Them5 UTSW 3 94343296 nonsense probably null
R7992:Them5 UTSW 3 94346189 missense possibly damaging 0.50
Posted On2012-12-06