Incidental Mutation 'IGL02403:Them4'
ID 291972
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Them4
Ensembl Gene ENSMUSG00000028145
Gene Name thioesterase superfamily member 4
Synonyms 2700077M13Rik, 4921507I02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02403
Quality Score
Status
Chromosome 3
Chromosomal Location 94217415-94239847 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94230978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 117 (F117L)
Ref Sequence ENSEMBL: ENSMUSP00000062841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049822]
AlphaFold Q3UUI3
Predicted Effect probably damaging
Transcript: ENSMUST00000049822
AA Change: F117L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062841
Gene: ENSMUSG00000028145
AA Change: F117L

DomainStartEndE-ValueType
low complexity region 13 25 N/A INTRINSIC
Pfam:4HBT 139 213 8.1e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198494
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein kinase B (PKB) is a major downstream target of receptor tyrosine kinases that signal via phosphatidylinositol 3-kinase. Upon cell stimulation, PKB is translocated to the plasma membrane, where it is phosphorylated in the C-terminal regulatory domain. The protein encoded by this gene negatively regulates PKB activity by inhibiting phosphorylation. Transcription of this gene is commonly downregulated in glioblastomas. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit elongated mitochondria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A G 7: 45,755,227 (GRCm39) probably null Het
Alk C A 17: 72,208,388 (GRCm39) G944V probably damaging Het
Alox15 T C 11: 70,236,727 (GRCm39) D446G probably damaging Het
Apof A G 10: 128,105,353 (GRCm39) probably null Het
Arhgap28 T G 17: 68,180,154 (GRCm39) D81A possibly damaging Het
Bltp1 T C 3: 37,084,813 (GRCm39) S3922P probably benign Het
Bms1 T C 6: 118,382,185 (GRCm39) E451G possibly damaging Het
C9orf72 A G 4: 35,205,887 (GRCm39) probably benign Het
Capn13 T A 17: 73,658,421 (GRCm39) T216S possibly damaging Het
Ccdc28a A T 10: 18,089,931 (GRCm39) probably benign Het
Cdip1 T C 16: 4,586,676 (GRCm39) T150A probably damaging Het
Chrnb3 T A 8: 27,883,836 (GRCm39) L191Q probably damaging Het
Chst2 G A 9: 95,287,285 (GRCm39) Q354* probably null Het
Cldn11 T C 3: 31,204,345 (GRCm39) V16A probably benign Het
Cyp4f18 A G 8: 72,752,072 (GRCm39) M198T probably damaging Het
Dhx30 A G 9: 109,920,587 (GRCm39) L280P probably damaging Het
Disc1 A G 8: 125,862,258 (GRCm39) probably benign Het
Dnm1l T C 16: 16,154,840 (GRCm39) I172V possibly damaging Het
Edem2 T C 2: 155,550,983 (GRCm39) D328G possibly damaging Het
Fbxo10 G A 4: 45,062,517 (GRCm39) T3M probably benign Het
Fdxacb1 T A 9: 50,682,863 (GRCm39) S275R possibly damaging Het
Gm7275 C A 16: 47,893,991 (GRCm39) noncoding transcript Het
Helz2 A T 2: 180,872,815 (GRCm39) I2468N probably damaging Het
Ift46 C A 9: 44,698,176 (GRCm39) P213Q probably damaging Het
Ift56 A G 6: 38,386,373 (GRCm39) M365V possibly damaging Het
Irf2 G T 8: 47,299,207 (GRCm39) V334F probably damaging Het
Lrp4 T A 2: 91,338,927 (GRCm39) V1786E probably benign Het
Mfsd5 A G 15: 102,188,973 (GRCm39) Y115C probably benign Het
Muc5ac A G 7: 141,357,187 (GRCm39) R1154G possibly damaging Het
Nek4 G T 14: 30,686,008 (GRCm39) E314* probably null Het
Oas2 C T 5: 120,886,815 (GRCm39) G117D possibly damaging Het
Or8j3b A T 2: 86,204,867 (GRCm39) D296E probably benign Het
Pikfyve C T 1: 65,283,663 (GRCm39) H767Y probably damaging Het
Pkhd1 T C 1: 20,632,642 (GRCm39) H591R probably benign Het
Pygl T A 12: 70,241,032 (GRCm39) I672F probably benign Het
Rft1 G T 14: 30,382,278 (GRCm39) probably benign Het
Ripor3 A C 2: 167,831,250 (GRCm39) L517R probably damaging Het
Serpina3b A G 12: 104,096,721 (GRCm39) M1V probably null Het
Sgce C T 6: 4,694,059 (GRCm39) R263Q probably damaging Het
Stard6 A T 18: 70,629,183 (GRCm39) probably null Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Vmn2r116 G T 17: 23,606,338 (GRCm39) D417Y probably damaging Het
Other mutations in Them4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0135:Them4 UTSW 3 94,230,877 (GRCm39) splice site probably benign
R0586:Them4 UTSW 3 94,237,101 (GRCm39) missense possibly damaging 0.95
R4345:Them4 UTSW 3 94,237,172 (GRCm39) missense possibly damaging 0.93
R4998:Them4 UTSW 3 94,237,088 (GRCm39) missense probably damaging 1.00
R5214:Them4 UTSW 3 94,224,818 (GRCm39) missense probably benign 0.13
R5649:Them4 UTSW 3 94,238,851 (GRCm39) missense possibly damaging 0.62
R6041:Them4 UTSW 3 94,224,806 (GRCm39) missense possibly damaging 0.93
R6814:Them4 UTSW 3 94,231,678 (GRCm39) missense probably damaging 1.00
R6872:Them4 UTSW 3 94,231,678 (GRCm39) missense probably damaging 1.00
R7611:Them4 UTSW 3 94,238,865 (GRCm39) missense possibly damaging 0.96
R8505:Them4 UTSW 3 94,224,847 (GRCm39) missense probably benign 0.00
R8815:Them4 UTSW 3 94,231,610 (GRCm39) missense probably damaging 1.00
R9290:Them4 UTSW 3 94,231,630 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16