Incidental Mutation 'R2407:Trib1'
| ID |
248074 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trib1
|
| Ensembl Gene |
ENSMUSG00000032501 |
| Gene Name |
tribbles pseudokinase 1 |
| Synonyms |
A530090O15Rik, Trb1 |
| MMRRC Submission |
040373-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2407 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
59520503-59528948 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59526449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 340
(Y340H)
|
| 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: Y340H
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000068834
Gene: ENSMUSG00000032501
AA Change: Y340H
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.7%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544G11Rik |
A |
T |
6: 65,930,212 (GRCm39) |
N149I |
probably benign |
Het |
| Agxt |
G |
T |
1: 93,063,502 (GRCm39) |
A135S |
probably benign |
Het |
| Aldh1a2 |
A |
T |
9: 71,159,880 (GRCm39) |
I40F |
probably damaging |
Het |
| Ang |
T |
A |
14: 51,339,103 (GRCm39) |
C81* |
probably null |
Het |
| Apc |
G |
T |
18: 34,447,315 (GRCm39) |
V1370F |
possibly damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,553,614 (GRCm39) |
T127A |
possibly damaging |
Het |
| Cd1d1 |
A |
G |
3: 86,905,489 (GRCm39) |
L168P |
probably damaging |
Het |
| Cfap251 |
A |
T |
5: 123,428,032 (GRCm39) |
M510L |
probably benign |
Het |
| Epb42 |
C |
A |
2: 120,855,233 (GRCm39) |
V451F |
probably damaging |
Het |
| F5 |
T |
A |
1: 164,039,441 (GRCm39) |
L2017Q |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,225,424 (GRCm39) |
|
probably null |
Het |
| Kif13a |
G |
A |
13: 46,930,573 (GRCm39) |
P164S |
probably damaging |
Het |
| Kirrel1 |
T |
A |
3: 86,992,150 (GRCm39) |
I593F |
probably benign |
Het |
| Lin28b |
A |
T |
10: 45,257,183 (GRCm39) |
I265N |
possibly damaging |
Het |
| Mctp2 |
A |
T |
7: 71,850,155 (GRCm39) |
D507E |
probably benign |
Het |
| Morc3 |
G |
A |
16: 93,641,215 (GRCm39) |
|
probably null |
Het |
| Myo3b |
T |
C |
2: 70,085,597 (GRCm39) |
Y750H |
probably damaging |
Het |
| Nrp1 |
T |
C |
8: 129,158,426 (GRCm39) |
S238P |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Otog |
A |
G |
7: 45,890,964 (GRCm39) |
E41G |
probably benign |
Het |
| Pclo |
G |
T |
5: 14,728,946 (GRCm39) |
|
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,373,247 (GRCm39) |
D2296G |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,166,510 (GRCm39) |
C473R |
probably damaging |
Het |
| Rad51ap2 |
T |
A |
12: 11,508,502 (GRCm39) |
M808K |
probably damaging |
Het |
| Sec24b |
A |
C |
3: 129,795,965 (GRCm39) |
S651A |
probably benign |
Het |
| Slc17a3 |
G |
A |
13: 24,036,418 (GRCm39) |
|
probably null |
Het |
| Slc4a10 |
A |
G |
2: 62,143,687 (GRCm39) |
H1074R |
probably benign |
Het |
| Spata31d1b |
A |
G |
13: 59,864,660 (GRCm39) |
K603E |
possibly damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,721,919 (GRCm39) |
M1087K |
possibly damaging |
Het |
| Sptbn4 |
T |
A |
7: 27,117,523 (GRCm39) |
K409* |
probably null |
Het |
| Tacc2 |
G |
A |
7: 130,223,770 (GRCm39) |
V152I |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,527,536 (GRCm39) |
M65V |
probably benign |
Het |
| Tmem131l |
G |
T |
3: 83,829,355 (GRCm39) |
Q1100K |
probably benign |
Het |
| Togaram1 |
T |
C |
12: 65,014,444 (GRCm39) |
M565T |
probably damaging |
Het |
| Wdr7 |
A |
T |
18: 63,893,794 (GRCm39) |
M643L |
probably benign |
Het |
| Zfp51 |
A |
T |
17: 21,684,093 (GRCm39) |
H236L |
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 |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATGACTCAGATCCGAGTG -3'
(R):5'- AGAGAGGCGACACCACATTG -3'
Sequencing Primer
(F):5'- AAGCCTCCTAAGACGAGA -3'
(R):5'- ACAGGGACAATGGTGCTCC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation