Incidental Mutation 'IGL01648:Trib1'
| ID |
102734 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trib1
|
| Ensembl Gene |
ENSMUSG00000032501 |
| Gene Name |
tribbles pseudokinase 1 |
| Synonyms |
A530090O15Rik, Trb1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01648
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
59520503-59528948 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 59526350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q8K4K4 |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930584F24Rik |
A |
G |
5: 26,695,398 (GRCm39) |
|
noncoding transcript |
Het |
| Abca7 |
C |
T |
10: 79,846,914 (GRCm39) |
S1664L |
probably damaging |
Het |
| Aebp1 |
G |
T |
11: 5,820,607 (GRCm39) |
R499L |
possibly damaging |
Het |
| Agt |
C |
A |
8: 125,291,145 (GRCm39) |
S54I |
probably benign |
Het |
| Chic2 |
T |
A |
5: 75,187,860 (GRCm39) |
S67C |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,508,451 (GRCm39) |
*3066Y |
probably null |
Het |
| Fan1 |
A |
G |
7: 64,022,297 (GRCm39) |
S319P |
probably damaging |
Het |
| Fgd5 |
C |
T |
6: 91,966,340 (GRCm39) |
Q700* |
probably null |
Het |
| Frem2 |
T |
A |
3: 53,443,153 (GRCm39) |
H2537L |
possibly damaging |
Het |
| Lingo1 |
C |
A |
9: 56,527,111 (GRCm39) |
A493S |
probably damaging |
Het |
| Med20 |
A |
G |
17: 47,933,925 (GRCm39) |
H180R |
possibly damaging |
Het |
| Megf8 |
T |
C |
7: 25,026,997 (GRCm39) |
C152R |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,502,805 (GRCm39) |
F59S |
probably damaging |
Het |
| Or4a39 |
A |
T |
2: 89,236,535 (GRCm39) |
M296K |
probably damaging |
Het |
| Pgm5 |
T |
C |
19: 24,801,715 (GRCm39) |
D171G |
probably damaging |
Het |
| Rbm47 |
A |
T |
5: 66,182,321 (GRCm39) |
N437K |
possibly damaging |
Het |
| Tpra1 |
T |
A |
6: 88,886,653 (GRCm39) |
|
probably benign |
Het |
| Tradd |
A |
G |
8: 105,986,418 (GRCm39) |
L118S |
probably damaging |
Het |
| Vps50 |
T |
A |
6: 3,498,545 (GRCm39) |
M8K |
probably benign |
Het |
| Xrcc6 |
A |
T |
15: 81,909,835 (GRCm39) |
E238V |
probably damaging |
Het |
|
| Other mutations in Trib1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01140:Trib1
|
APN |
15 |
59,523,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02267:Trib1
|
APN |
15 |
59,523,449 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03018:Trib1
|
APN |
15 |
59,526,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Dibble
|
UTSW |
15 |
59,526,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
lawrence
|
UTSW |
15 |
59,521,264 (GRCm39) |
missense |
probably benign |
|
|
Topcat
|
UTSW |
15 |
59,523,487 (GRCm39) |
nonsense |
probably null |
|
|
R1994:Trib1
|
UTSW |
15 |
59,521,192 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2073:Trib1
|
UTSW |
15 |
59,526,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2407:Trib1
|
UTSW |
15 |
59,526,449 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3709:Trib1
|
UTSW |
15 |
59,526,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5759:Trib1
|
UTSW |
15 |
59,526,350 (GRCm39) |
missense |
probably benign |
|
|
R5986:Trib1
|
UTSW |
15 |
59,526,451 (GRCm39) |
splice site |
probably null |
|
|
R6083:Trib1
|
UTSW |
15 |
59,526,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6084:Trib1
|
UTSW |
15 |
59,526,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6086:Trib1
|
UTSW |
15 |
59,526,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6112:Trib1
|
UTSW |
15 |
59,523,487 (GRCm39) |
nonsense |
probably null |
|
|
R6113:Trib1
|
UTSW |
15 |
59,523,487 (GRCm39) |
nonsense |
probably null |
|
|
R6316:Trib1
|
UTSW |
15 |
59,521,264 (GRCm39) |
missense |
probably benign |
|
|
R7288:Trib1
|
UTSW |
15 |
59,526,471 (GRCm39) |
missense |
probably benign |
|
|
R7663:Trib1
|
UTSW |
15 |
59,523,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7744:Trib1
|
UTSW |
15 |
59,526,512 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8061:Trib1
|
UTSW |
15 |
59,523,404 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2014-01-21 |
Incidental Mutation