Incidental Mutation 'IGL01648:Trib1'
ID102734
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trib1
Ensembl Gene ENSMUSG00000032501
Gene Nametribbles pseudokinase 1
SynonymsTrb1, A530090O15Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01648
Quality Score
Status
Chromosome15
Chromosomal Location59648350-59657099 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 59654501 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 307 (V307F)
Ref Sequence ENSEMBL: ENSMUSP00000068834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067543] [ENSMUST00000118228]
Predicted Effect probably benign
Transcript: ENSMUST00000067543
AA Change: V307F

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000068834
Gene: ENSMUSG00000032501
AA Change: V307F

DomainStartEndE-ValueType
low complexity region 61 82 N/A INTRINSIC
Pfam:Pkinase 105 338 1.1e-33 PFAM
Pfam:Pkinase_Tyr 120 335 2.1e-15 PFAM
Pfam:Kinase-like 124 326 1.4e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118228
SMART Domains Protein: ENSMUSP00000112828
Gene: ENSMUSG00000032501

DomainStartEndE-ValueType
low complexity region 61 82 N/A INTRINSIC
Pfam:Pkinase 104 218 7.9e-12 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Macrophages from mice homozygous for a knock-out allele exhibit impaired IL12 response to LPS, MALP-1, or CpG DNA. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930584F24Rik A G 5: 26,490,400 noncoding transcript Het
Abca7 C T 10: 80,011,080 S1664L probably damaging Het
Aebp1 G T 11: 5,870,607 R499L possibly damaging Het
Agt C A 8: 124,564,406 S54I probably benign Het
Chic2 T A 5: 75,027,199 S67C probably damaging Het
Col12a1 T A 9: 79,601,169 *3066Y probably null Het
Fan1 A G 7: 64,372,549 S319P probably damaging Het
Fgd5 C T 6: 91,989,359 Q700* probably null Het
Frem2 T A 3: 53,535,732 H2537L possibly damaging Het
Lingo1 C A 9: 56,619,827 A493S probably damaging Het
Med20 A G 17: 47,623,000 H180R possibly damaging Het
Megf8 T C 7: 25,327,572 C152R probably damaging Het
Mms22l T C 4: 24,502,805 F59S probably damaging Het
Olfr1238 A T 2: 89,406,191 M296K probably damaging Het
Pgm5 T C 19: 24,824,351 D171G probably damaging Het
Rbm47 A T 5: 66,024,978 N437K possibly damaging Het
Tpra1 T A 6: 88,909,671 probably benign Het
Tradd A G 8: 105,259,786 L118S probably damaging Het
Vps50 T A 6: 3,498,545 M8K probably benign Het
Xrcc6 A T 15: 82,025,634 E238V probably damaging Het
Other mutations in Trib1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01140:Trib1 APN 15 59651627 missense probably damaging 1.00
IGL02267:Trib1 APN 15 59651600 missense probably damaging 0.98
IGL03018:Trib1 APN 15 59654484 missense probably damaging 1.00
topcat UTSW 15 59651638 nonsense probably null
R1994:Trib1 UTSW 15 59649343 missense possibly damaging 0.70
R2073:Trib1 UTSW 15 59654340 missense probably damaging 1.00
R2407:Trib1 UTSW 15 59654600 missense probably benign 0.00
R3709:Trib1 UTSW 15 59654361 missense probably damaging 1.00
R5759:Trib1 UTSW 15 59654501 missense probably benign
R5986:Trib1 UTSW 15 59654602 unclassified probably null
R6083:Trib1 UTSW 15 59654475 missense probably damaging 1.00
R6084:Trib1 UTSW 15 59654475 missense probably damaging 1.00
R6086:Trib1 UTSW 15 59654475 missense probably damaging 1.00
R6112:Trib1 UTSW 15 59651638 nonsense probably null
R6113:Trib1 UTSW 15 59651638 nonsense probably null
R6316:Trib1 UTSW 15 59649415 missense probably benign
R7288:Trib1 UTSW 15 59654622 missense probably benign
R7663:Trib1 UTSW 15 59651713 missense probably damaging 1.00
R7744:Trib1 UTSW 15 59654663 missense probably benign 0.04
R8061:Trib1 UTSW 15 59651555 missense probably damaging 0.97
Posted On2014-01-21