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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |