Incidental Mutation 'R5649:Them4'
ID 441308
Institutional Source Beutler Lab
Gene Symbol Them4
Ensembl Gene ENSMUSG00000028145
Gene Name thioesterase superfamily member 4
Synonyms 2700077M13Rik, 4921507I02Rik
MMRRC Submission 043170-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5649 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 94217415-94239847 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94238851 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 219 (L219F)
Ref Sequence ENSEMBL: ENSMUSP00000062841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049822]
AlphaFold Q3UUI3
Predicted Effect possibly damaging
Transcript: ENSMUST00000049822
AA Change: L219F

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000062841
Gene: ENSMUSG00000028145
AA Change: L219F

DomainStartEndE-ValueType
low complexity region 13 25 N/A INTRINSIC
Pfam:4HBT 139 213 8.1e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197898
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198353
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,330,501 (GRCm39) T1385A probably damaging Het
Apc2 T A 10: 80,149,972 (GRCm39) D1646E probably damaging Het
Aspm G A 1: 139,407,407 (GRCm39) R2098H probably benign Het
Atl3 C A 19: 7,509,592 (GRCm39) T435N possibly damaging Het
Cdh22 G T 2: 164,958,200 (GRCm39) T589K probably damaging Het
Cnot3 T C 7: 3,661,082 (GRCm39) L561S probably benign Het
Col5a1 A G 2: 27,841,468 (GRCm39) D363G unknown Het
Cyp24a1 T C 2: 170,338,229 (GRCm39) D105G possibly damaging Het
Dennd4a C A 9: 64,758,491 (GRCm39) probably null Het
Dnah8 A G 17: 31,019,561 (GRCm39) K3878R probably benign Het
Dock4 T C 12: 40,894,539 (GRCm39) S1900P probably benign Het
Fancg A G 4: 43,008,736 (GRCm39) L167P probably damaging Het
Ighd2-8 A G 12: 113,414,487 (GRCm39) S1P possibly damaging Het
Kif28 A G 1: 179,525,336 (GRCm39) probably null Het
Mrpl55 T A 11: 59,095,397 (GRCm39) C20* probably null Het
Myo5a A G 9: 75,079,001 (GRCm39) K920E possibly damaging Het
Naa35 G A 13: 59,770,680 (GRCm39) probably benign Het
Olfm3 A G 3: 114,890,573 (GRCm39) R76G probably damaging Het
Or14a258 T C 7: 86,035,521 (GRCm39) M116V probably damaging Het
Or2ag1 T C 7: 106,313,373 (GRCm39) R172G possibly damaging Het
Pcdha12 A T 18: 37,155,468 (GRCm39) D729V probably benign Het
Phf11c T C 14: 59,622,981 (GRCm39) probably null Het
Phf20 T A 2: 156,093,688 (GRCm39) probably null Het
Plbd1 T A 6: 136,593,987 (GRCm39) Y376F probably benign Het
Poglut1 A G 16: 38,352,173 (GRCm39) V257A probably damaging Het
Reln A G 5: 22,106,623 (GRCm39) I3249T probably benign Het
Rgsl1 G A 1: 153,701,639 (GRCm39) P272S possibly damaging Het
Slc15a2 A T 16: 36,592,472 (GRCm39) Y197* probably null Het
Slc45a2 C T 15: 11,012,693 (GRCm39) T232I probably benign Het
Ssc5d T A 7: 4,929,517 (GRCm39) probably null Het
Thbs2 T C 17: 14,910,215 (GRCm39) Y128C probably damaging Het
Tmem30b G T 12: 73,592,940 (GRCm39) N58K probably benign Het
Trappc2b T C 11: 51,576,799 (GRCm39) E33G probably benign Het
Ttc29 G A 8: 78,972,942 (GRCm39) E131K possibly damaging Het
Vmn1r29 C G 6: 58,284,676 (GRCm39) S132C probably benign Het
Vmn1r53 G A 6: 90,200,742 (GRCm39) A194V probably benign Het
Wdr86 A T 5: 24,923,085 (GRCm39) H202Q probably benign Het
Xirp2 A G 2: 67,347,239 (GRCm39) D3160G probably benign Het
Xkr5 T C 8: 18,983,982 (GRCm39) D520G probably benign Het
Zfp607b T G 7: 27,403,406 (GRCm39) C621G probably damaging Het
Other mutations in Them4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02403:Them4 APN 3 94,230,978 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGCAGCAGCCAAAAGTTGATTC -3'
(R):5'- GCCATATTTCAGAGGCTGTTC -3'

Sequencing Primer
(F):5'- GGCTATACAGAGAGACCCTGTC -3'
(R):5'- CAGAGGCTGTTCTGAAGGGTC -3'
Posted On 2016-11-08