Incidental Mutation 'R4322:Them5'
ID 323859
Institutional Source Beutler Lab
Gene Symbol Them5
Ensembl Gene ENSMUSG00000028148
Gene Name thioesterase superfamily member 5
Synonyms 1110007B02Rik, 1110038F21Rik
MMRRC Submission 041093-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R4322 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 94249406-94254659 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 94253463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 158 (H158N)
Ref Sequence ENSEMBL: ENSMUSP00000029794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029794] [ENSMUST00000198083]
AlphaFold Q9CQJ0
Predicted Effect probably damaging
Transcript: ENSMUST00000029794
AA Change: H158N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029794
Gene: ENSMUSG00000028148
AA Change: H158N

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: H158N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142808
Gene: ENSMUSG00000028148
AA Change: H158N

DomainStartEndE-ValueType
Pfam:4HBT 154 229 7.4e-5 PFAM
Meta Mutation Damage Score 0.7389 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 94% (48/51)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt2 G A 4: 154,751,701 (GRCm39) A145V probably damaging Het
Allc C A 12: 28,604,023 (GRCm39) L353F probably benign Het
Alx3 C T 3: 107,502,691 (GRCm39) P67L probably benign Het
Arhgef10l C A 4: 140,270,037 (GRCm39) G882V probably benign Het
Asb13 G T 13: 3,695,012 (GRCm39) R160L possibly damaging Het
Atxn7l2 A T 3: 108,113,148 (GRCm39) D218E probably damaging Het
Bdp1 T A 13: 100,228,731 (GRCm39) N299I probably damaging Het
Ccdc80 G T 16: 44,915,951 (GRCm39) V236L probably damaging Het
Cdhr2 A T 13: 54,881,534 (GRCm39) I1085L probably benign Het
Csn2 C T 5: 87,845,886 (GRCm39) probably null Het
Dnajb14 G A 3: 137,591,060 (GRCm39) G54S probably damaging Het
Fyb1 T A 15: 6,610,300 (GRCm39) L291Q possibly damaging Het
Ggcx A G 6: 72,405,803 (GRCm39) S545G probably benign Het
Gm12250 G A 11: 58,079,126 (GRCm39) noncoding transcript Het
Hipk3 C A 2: 104,276,916 (GRCm39) V388L probably damaging Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Kng1 A C 16: 22,898,270 (GRCm39) M557L probably benign Het
Lilrb4a T C 10: 51,367,707 (GRCm39) F83S probably damaging Het
Lmcd1 A G 6: 112,292,724 (GRCm39) E192G possibly damaging Het
Lrp2 C A 2: 69,256,335 (GRCm39) E4602* probably null Het
Mc4r T C 18: 66,992,121 (GRCm39) R331G probably benign Het
Mybpc3 A G 2: 90,954,306 (GRCm39) D393G possibly damaging Het
Or2y1f G A 11: 49,184,503 (GRCm39) M118I probably damaging Het
Or4c10b A G 2: 89,712,078 (GRCm39) K303E probably benign Het
Or5p69 C T 7: 107,967,555 (GRCm39) P286L probably damaging Het
Orc1 G A 4: 108,445,973 (GRCm39) M30I probably benign Het
Pira13 A G 7: 3,825,754 (GRCm39) S372P possibly damaging Het
Pot1a T C 6: 25,745,929 (GRCm39) T591A probably benign Het
Rnf125 G A 18: 21,110,817 (GRCm39) R25K probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sh3rf2 A T 18: 42,244,464 (GRCm39) H310L probably damaging Het
Shld2 G T 14: 33,981,632 (GRCm39) T502K probably damaging Het
Srgap1 T C 10: 121,705,711 (GRCm39) K238E probably damaging Het
Ssc5d C T 7: 4,931,449 (GRCm39) R219C probably damaging Het
Vmn1r203 A T 13: 22,708,408 (GRCm39) N63I probably damaging Het
Vps41 T A 13: 19,007,960 (GRCm39) F264L probably damaging Het
Vtn A T 11: 78,390,916 (GRCm39) probably benign Het
Other mutations in Them5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Them5 APN 3 94,253,496 (GRCm39) missense possibly damaging 0.50
IGL00790:Them5 APN 3 94,250,716 (GRCm39) missense probably damaging 1.00
IGL00813:Them5 APN 3 94,250,595 (GRCm39) missense probably damaging 1.00
IGL02100:Them5 APN 3 94,251,782 (GRCm39) missense probably damaging 1.00
R0668:Them5 UTSW 3 94,251,720 (GRCm39) missense probably benign 0.11
R1616:Them5 UTSW 3 94,253,567 (GRCm39) critical splice donor site probably null
R1782:Them5 UTSW 3 94,251,796 (GRCm39) missense probably benign 0.10
R5789:Them5 UTSW 3 94,253,908 (GRCm39) missense probably damaging 1.00
R7853:Them5 UTSW 3 94,250,603 (GRCm39) nonsense probably null
R7911:Them5 UTSW 3 94,253,496 (GRCm39) missense possibly damaging 0.50
R8744:Them5 UTSW 3 94,253,472 (GRCm39) missense probably damaging 1.00
R9337:Them5 UTSW 3 94,254,048 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGACCTTCTGAAGCCCACAG -3'
(R):5'- ACAGGCAGGATCTTCACACTC -3'

Sequencing Primer
(F):5'- GCCCACAGGACATATCTCTGTG -3'
(R):5'- GGCAGGATCTTCACACTCAACTTG -3'
Posted On 2015-06-24