Incidental Mutation 'IGL03018:Trib1'
| ID |
407947 |
| 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 # |
IGL03018
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
59520503-59528948 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59526333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 301
(F301S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068834
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067543]
[ENSMUST00000118228]
|
| AlphaFold |
Q8K4K4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067543
AA Change: F301S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000068834
Gene: ENSMUSG00000032501
AA Change: F301S
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,752,451 (GRCm39) |
V474E |
probably damaging |
Het |
| Cpsf6 |
A |
T |
10: 117,203,861 (GRCm39) |
D30E |
probably benign |
Het |
| Dnai7 |
A |
G |
6: 145,129,031 (GRCm39) |
F394S |
probably damaging |
Het |
| Edem1 |
T |
C |
6: 108,806,103 (GRCm39) |
F135L |
probably damaging |
Het |
| Elf3 |
C |
T |
1: 135,183,803 (GRCm39) |
E239K |
possibly damaging |
Het |
| Farp1 |
C |
T |
14: 121,339,581 (GRCm39) |
A53V |
probably benign |
Het |
| Gli3 |
T |
A |
13: 15,834,717 (GRCm39) |
L400Q |
probably damaging |
Het |
| Gtf2i |
T |
A |
5: 134,318,189 (GRCm39) |
I109F |
possibly damaging |
Het |
| Lat2 |
A |
T |
5: 134,631,445 (GRCm39) |
I191N |
probably damaging |
Het |
| Mtf1 |
G |
A |
4: 124,732,456 (GRCm39) |
A505T |
probably benign |
Het |
| Naa30 |
G |
T |
14: 49,410,697 (GRCm39) |
E208D |
probably benign |
Het |
| Nlrp5 |
T |
C |
7: 23,117,172 (GRCm39) |
Y299H |
probably benign |
Het |
| Npc1 |
T |
A |
18: 12,347,436 (GRCm39) |
N195Y |
probably damaging |
Het |
| Or2f1 |
A |
G |
6: 42,721,748 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or4p21 |
T |
C |
2: 88,277,163 (GRCm39) |
N40D |
probably damaging |
Het |
| Or5t16 |
T |
G |
2: 86,819,349 (GRCm39) |
Y57S |
probably damaging |
Het |
| Or7g18 |
T |
C |
9: 18,787,523 (GRCm39) |
M300T |
probably benign |
Het |
| Or7g19 |
A |
T |
9: 18,856,177 (GRCm39) |
I78F |
probably damaging |
Het |
| Pate12 |
A |
G |
9: 36,344,723 (GRCm39) |
T84A |
possibly damaging |
Het |
| Pcdh9 |
G |
A |
14: 93,253,012 (GRCm39) |
A1217V |
probably null |
Het |
| Pdhb |
C |
T |
14: 8,171,537 (GRCm38) |
|
probably benign |
Het |
| Pknox2 |
A |
G |
9: 36,865,993 (GRCm39) |
Y75H |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 117,175,563 (GRCm39) |
S748P |
probably damaging |
Het |
| Ranbp6 |
A |
G |
19: 29,788,789 (GRCm39) |
V521A |
probably damaging |
Het |
| Samd7 |
A |
G |
3: 30,816,294 (GRCm39) |
K347E |
probably damaging |
Het |
| Selenom |
A |
G |
11: 3,466,508 (GRCm39) |
D63G |
probably damaging |
Het |
| Sema6d |
T |
C |
2: 124,501,520 (GRCm39) |
V487A |
possibly damaging |
Het |
| Tapt1 |
A |
T |
5: 44,361,666 (GRCm39) |
M109K |
probably damaging |
Het |
| Tspyl1 |
T |
C |
10: 34,159,112 (GRCm39) |
V279A |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,264,972 (GRCm39) |
V1184I |
possibly damaging |
Het |
| Urb1 |
T |
C |
16: 90,585,044 (GRCm39) |
I526V |
probably benign |
Het |
| Vtcn1 |
A |
G |
3: 100,791,226 (GRCm39) |
D88G |
probably damaging |
Het |
| Yod1 |
T |
G |
1: 130,646,695 (GRCm39) |
L191V |
probably benign |
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 |
|
IGL01648:Trib1
|
APN |
15 |
59,526,350 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02267:Trib1
|
APN |
15 |
59,523,449 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2016-08-02 |
Incidental Mutation