Incidental Mutation 'IGL00958:Trib2'
ID 28767
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trib2
Ensembl Gene ENSMUSG00000020601
Gene Name tribbles pseudokinase 2
Synonyms TRB2
Accession Numbers
Essential gene? Possibly essential (E-score: 0.512) question?
Stock # IGL00958
Quality Score
Status
Chromosome 12
Chromosomal Location 15841728-15866923 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15843634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 336 (E336G)
Ref Sequence ENSEMBL: ENSMUSP00000020922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020922] [ENSMUST00000221518]
AlphaFold Q8K4K3
Predicted Effect possibly damaging
Transcript: ENSMUST00000020922
AA Change: E336G

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020922
Gene: ENSMUSG00000020601
AA Change: E336G

DomainStartEndE-ValueType
Pfam:Pkinase 72 308 1.2e-36 PFAM
Pfam:Pkinase_Tyr 98 305 4.6e-19 PFAM
Pfam:Kinase-like 111 296 5.7e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221518
AA Change: E200G

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of three members of the Tribbles family. The Tribbles members share a Trb domain, which is homologous to protein serine-threonine kinases, but lacks the active site lysine and probably lacks a catalytic function. The Tribbles proteins interact and modulate the activity of signal transduction pathways in a number of physiological and pathological processes. This Tribbles member induces apoptosis of cells mainly of the hematopoietic origin. It has been identified as a protein up-regulated by inflammatory stimuli in myeloid (THP-1) cells, and also as an oncogene that inactivates the transcription factor C/EBPalpha (CCAAT/enhancer-binding protein alpha) and causes acute myelogenous leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit nitrituria. Female homozygotes display decreased circulating triglyceride levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik G T 10: 29,103,324 (GRCm39) R635M probably benign Het
Arhgef19 T C 4: 140,976,294 (GRCm39) probably benign Het
Cd101 T C 3: 100,911,018 (GRCm39) D880G probably damaging Het
Cdk5rap3 T C 11: 96,800,793 (GRCm39) N348D probably benign Het
Cep295nl G A 11: 118,224,730 (GRCm39) T38I probably damaging Het
Col3a1 T G 1: 45,366,755 (GRCm39) S232A unknown Het
Ddx1 T C 12: 13,290,849 (GRCm39) probably null Het
Gckr A T 5: 31,456,129 (GRCm39) probably null Het
Gm5800 A G 14: 51,951,269 (GRCm39) L110P possibly damaging Het
H2ac25 G T 11: 58,845,766 (GRCm39) G68V probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Mfap3l A G 8: 61,124,516 (GRCm39) I253V probably benign Het
Or10q1b G A 19: 13,683,096 (GRCm39) V302I probably benign Het
Or13a28 T A 7: 140,218,169 (GRCm39) L185H probably damaging Het
Or1j10 A G 2: 36,266,928 (GRCm39) I47V probably damaging Het
Or4k42 A G 2: 111,319,565 (GRCm39) *313Q probably null Het
Or51a42 T C 7: 103,708,620 (GRCm39) Y63C probably benign Het
Or8b3b A G 9: 38,584,320 (GRCm39) V153A probably benign Het
Pias3 C T 3: 96,606,738 (GRCm39) probably benign Het
Ppox A G 1: 171,105,453 (GRCm39) probably null Het
Raet1d A G 10: 22,246,791 (GRCm39) T40A possibly damaging Het
Rcan2 G A 17: 44,347,908 (GRCm39) V206I probably damaging Het
Skic3 T C 13: 76,270,864 (GRCm39) Y288H probably damaging Het
Slc8b1 T C 5: 120,671,049 (GRCm39) L545P probably damaging Het
Tmem145 T G 7: 25,006,782 (GRCm39) probably null Het
Other mutations in Trib2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02248:Trib2 APN 12 15,843,967 (GRCm39) missense possibly damaging 0.67
IGL03145:Trib2 APN 12 15,859,932 (GRCm39) missense probably damaging 0.99
R0008:Trib2 UTSW 12 15,859,930 (GRCm39) missense probably benign 0.15
R0008:Trib2 UTSW 12 15,859,930 (GRCm39) missense probably benign 0.15
R0118:Trib2 UTSW 12 15,843,929 (GRCm39) missense probably damaging 1.00
R0399:Trib2 UTSW 12 15,843,664 (GRCm39) missense probably damaging 1.00
R0600:Trib2 UTSW 12 15,844,069 (GRCm39) missense probably damaging 0.99
R1928:Trib2 UTSW 12 15,865,454 (GRCm39) missense probably damaging 0.99
R2153:Trib2 UTSW 12 15,843,830 (GRCm39) missense probably damaging 1.00
R5056:Trib2 UTSW 12 15,843,795 (GRCm39) missense possibly damaging 0.95
R6571:Trib2 UTSW 12 15,844,060 (GRCm39) missense probably damaging 1.00
R6874:Trib2 UTSW 12 15,865,338 (GRCm39) missense probably damaging 1.00
R6931:Trib2 UTSW 12 15,843,640 (GRCm39) missense probably benign 0.18
R6988:Trib2 UTSW 12 15,865,339 (GRCm39) missense probably damaging 0.99
R8519:Trib2 UTSW 12 15,865,347 (GRCm39) missense probably damaging 1.00
R9352:Trib2 UTSW 12 15,865,413 (GRCm39) missense probably benign 0.01
R9541:Trib2 UTSW 12 15,866,827 (GRCm39) missense unknown
Posted On 2013-04-17