Incidental Mutation 'IGL03145:Trib2'
ID 410877
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 # IGL03145
Quality Score
Status
Chromosome 12
Chromosomal Location 15841728-15866923 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 15859932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 110 (H110Y)
Ref Sequence ENSEMBL: ENSMUSP00000020922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020922] [ENSMUST00000221215] [ENSMUST00000221518]
AlphaFold Q8K4K3
Predicted Effect probably damaging
Transcript: ENSMUST00000020922
AA Change: H110Y

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020922
Gene: ENSMUSG00000020601
AA Change: H110Y

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: ENSMUST00000221215
Predicted Effect probably benign
Transcript: ENSMUST00000221518
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik A G 10: 21,469,337 (GRCm39) D17G probably damaging Het
Adam39 C T 8: 41,277,695 (GRCm39) P29S probably benign Het
Afap1l1 T C 18: 61,874,880 (GRCm39) K434E possibly damaging Het
Akap7 T C 10: 25,115,565 (GRCm39) T187A probably damaging Het
Atp7b A C 8: 22,508,159 (GRCm39) I479S probably damaging Het
Cdh23 T A 10: 60,212,593 (GRCm39) E1606V probably damaging Het
Cnga3 A G 1: 37,300,755 (GRCm39) S530G probably damaging Het
Col13a1 A G 10: 61,727,040 (GRCm39) Y228H probably benign Het
Cybb C A X: 9,319,892 (GRCm39) E203* probably null Het
Dnah6 A T 6: 73,018,037 (GRCm39) M3594K probably damaging Het
Galnt14 C A 17: 73,811,903 (GRCm39) Q439H possibly damaging Het
Gck T A 11: 5,859,093 (GRCm39) D158V probably damaging Het
Gm5624 A G 14: 44,798,222 (GRCm39) M85T possibly damaging Het
Hgsnat A T 8: 26,436,480 (GRCm39) N557K probably damaging Het
Idua A G 5: 108,829,362 (GRCm39) T388A probably benign Het
Itgam A G 7: 127,712,191 (GRCm39) D692G probably benign Het
Lrrtm3 A G 10: 63,924,799 (GRCm39) Y123H probably benign Het
Mccc1 C T 3: 36,022,595 (GRCm39) R566H probably benign Het
Myh7 A T 14: 55,220,802 (GRCm39) L999Q probably damaging Het
Myo6 T G 9: 80,207,947 (GRCm39) Y1146* probably null Het
Nr3c1 C A 18: 39,619,313 (GRCm39) G325W probably damaging Het
Or2r11 A G 6: 42,437,434 (GRCm39) V173A probably benign Het
Or5p72 T A 7: 108,021,806 (GRCm39) H9Q probably benign Het
Or7e170 T A 9: 19,794,735 (GRCm39) I289F possibly damaging Het
Phf1 T C 17: 27,153,344 (GRCm39) probably null Het
Piezo1 T C 8: 123,209,660 (GRCm39) T2349A probably benign Het
Pih1d1 T C 7: 44,808,545 (GRCm39) probably null Het
Pold3 A G 7: 99,745,719 (GRCm39) S145P probably damaging Het
Prpf38b G T 3: 108,811,261 (GRCm39) probably benign Het
Racgap1 A T 15: 99,521,521 (GRCm39) M545K probably benign Het
Safb T C 17: 56,912,287 (GRCm39) Y802H probably damaging Het
Serpina3f A T 12: 104,183,716 (GRCm39) M193L probably benign Het
Slc43a2 G A 11: 75,459,263 (GRCm39) V432M probably benign Het
Spata2l T C 8: 123,960,075 (GRCm39) R405G possibly damaging Het
Sv2c A G 13: 96,125,606 (GRCm39) V377A probably damaging Het
Tbc1d15 C T 10: 115,038,421 (GRCm39) M597I probably benign Het
Tenm4 A T 7: 96,492,175 (GRCm39) R1036S probably damaging Het
Tjp3 A G 10: 81,119,522 (GRCm39) Y15H probably benign Het
Tkt A G 14: 30,282,645 (GRCm39) probably benign Het
Tpm2 T C 4: 43,519,447 (GRCm39) E145G probably damaging Het
Trim60 A T 8: 65,453,224 (GRCm39) S342T probably damaging Het
Ube2o T C 11: 116,434,835 (GRCm39) E542G probably damaging Het
Usp36 T C 11: 118,170,067 (GRCm39) D218G probably damaging Het
Zfp407 A G 18: 84,227,846 (GRCm39) L1921P probably damaging Het
Zfp983 G T 17: 21,877,924 (GRCm39) M42I probably damaging Het
Other mutations in Trib2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00958:Trib2 APN 12 15,843,634 (GRCm39) missense possibly damaging 0.86
IGL02248:Trib2 APN 12 15,843,967 (GRCm39) missense possibly damaging 0.67
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 2016-08-02