Incidental Mutation 'R8369:Tirap'
| ID |
646304 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tirap
|
| Ensembl Gene |
ENSMUSG00000032041 |
| Gene Name |
toll-interleukin 1 receptor (TIR) domain-containing adaptor protein |
| Synonyms |
Mal, wyatt, MyD88-adapter-like, Mal, C130027E04Rik |
| MMRRC Submission |
067739-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.182)
|
| Stock # |
R8369 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
35095847-35111587 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35100052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 211
(S211P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000175765]
[ENSMUST00000176021]
[ENSMUST00000176531]
[ENSMUST00000176611]
[ENSMUST00000176685]
[ENSMUST00000177052]
[ENSMUST00000177129]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175765
AA Change: S211P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135435
Gene: ENSMUSG00000032041
AA Change: S211P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
107 |
N/A |
INTRINSIC |
|
Pfam:TIR
|
113 |
206 |
2.4e-8 |
PFAM |
|
Pfam:TIR_2
|
116 |
226 |
1.9e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176021
AA Change: S211P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135738
Gene: ENSMUSG00000032041
AA Change: S211P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
107 |
N/A |
INTRINSIC |
|
Pfam:TIR
|
116 |
215 |
3.1e-10 |
PFAM |
|
Pfam:TIR_2
|
116 |
219 |
6.1e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176531
AA Change: S211P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135224
Gene: ENSMUSG00000032041
AA Change: S211P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
107 |
N/A |
INTRINSIC |
|
Pfam:TIR
|
116 |
225 |
2.6e-10 |
PFAM |
|
Pfam:TIR_2
|
116 |
226 |
1.4e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176611
|
| SMART Domains |
Protein: ENSMUSP00000134984
Gene: ENSMUSG00000032041
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
107 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176685
AA Change: S211P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135876
Gene: ENSMUSG00000032041
AA Change: S211P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
107 |
N/A |
INTRINSIC |
|
Pfam:TIR
|
116 |
225 |
2.6e-10 |
PFAM |
|
Pfam:TIR_2
|
116 |
226 |
1.4e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177052
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177129
AA Change: S211P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135462
Gene: ENSMUSG00000032041
AA Change: S211P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
107 |
N/A |
INTRINSIC |
|
Pfam:TIR
|
116 |
225 |
2.6e-10 |
PFAM |
|
Pfam:TIR_2
|
116 |
226 |
1.4e-14 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The innate immune system recognizes microbial pathogens through Toll-like receptors (TLRs), which identify pathogen-associated molecular patterns. Different TLRs recognize different pathogen-associated molecular patterns and all TLRs have a Toll-interleukin 1 receptor (TIR) domain, which is responsible for signal transduction. The protein encoded by this gene is a TIR adaptor protein involved in the TLR4 signaling pathway of the immune system. It activates NF-kappa-B, MAPK1, MAPK3 and JNK, which then results in cytokine secretion and the inflammatory response. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene lead to impaired cytokine secretion in response to TLR2 and TLR4 ligands. Homozygous null mice may also show low serum IgG3 levels, a reduced response to attenuated yellow fever vaccine, high susceptibility to bacterial infection, and altered response to myocardial infarction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
G |
A |
16: 90,852,657 (GRCm39) |
H160Y |
probably benign |
Het |
| Abcc4 |
T |
G |
14: 118,864,869 (GRCm39) |
I386L |
probably benign |
Het |
| Arap2 |
G |
A |
5: 62,761,669 (GRCm39) |
R1686* |
probably null |
Het |
| Arfgef3 |
A |
T |
10: 18,465,477 (GRCm39) |
I2122N |
probably benign |
Het |
| Arhgap44 |
A |
T |
11: 64,950,680 (GRCm39) |
D119E |
probably damaging |
Het |
| Atp2b2 |
C |
T |
6: 113,790,747 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
A |
3: 37,065,752 (GRCm39) |
L9M |
|
Het |
| Brinp1 |
A |
T |
4: 68,716,936 (GRCm39) |
L304Q |
possibly damaging |
Het |
| C2cd3 |
T |
C |
7: 100,044,465 (GRCm39) |
V349A |
probably benign |
Het |
| Ccdc93 |
T |
C |
1: 121,405,597 (GRCm39) |
Y347H |
probably damaging |
Het |
| Ccdc93 |
T |
G |
1: 121,422,126 (GRCm39) |
I534S |
probably benign |
Het |
| Cyb5r4 |
A |
T |
9: 86,922,486 (GRCm39) |
D165V |
probably benign |
Het |
| Cygb |
G |
A |
11: 116,540,109 (GRCm39) |
T180I |
probably benign |
Het |
| Cyp4f15 |
T |
A |
17: 32,916,939 (GRCm39) |
S285R |
probably benign |
Het |
| Daxx |
G |
T |
17: 34,131,590 (GRCm39) |
C433F |
probably damaging |
Het |
| Dcaf6 |
T |
C |
1: 165,185,043 (GRCm39) |
E483G |
probably damaging |
Het |
| Dennd1a |
T |
A |
2: 37,938,766 (GRCm39) |
I115F |
probably damaging |
Het |
| Dnajc5b |
A |
G |
3: 19,664,796 (GRCm39) |
D198G |
probably damaging |
Het |
| Ercc1 |
T |
A |
7: 19,088,377 (GRCm39) |
C243* |
probably null |
Het |
| Ermard |
T |
C |
17: 15,273,560 (GRCm39) |
F382L |
probably damaging |
Het |
| Fer1l4 |
C |
A |
2: 155,861,680 (GRCm39) |
G1879V |
probably benign |
Het |
| Focad |
T |
A |
4: 88,150,905 (GRCm39) |
H516Q |
unknown |
Het |
| Gcsam |
T |
A |
16: 45,436,369 (GRCm39) |
W51R |
probably damaging |
Het |
| Ikbkb |
A |
G |
8: 23,181,097 (GRCm39) |
V122A |
probably benign |
Het |
| Iqgap2 |
A |
T |
13: 95,798,111 (GRCm39) |
S1065T |
probably damaging |
Het |
| Kif16b |
G |
A |
2: 142,553,777 (GRCm39) |
A1007V |
probably benign |
Het |
| Krt24 |
A |
T |
11: 99,173,534 (GRCm39) |
C262* |
probably null |
Het |
| Lrat |
T |
C |
3: 82,810,865 (GRCm39) |
E52G |
probably damaging |
Het |
| Misp3 |
T |
A |
8: 84,737,627 (GRCm39) |
H94L |
unknown |
Het |
| N4bp3 |
A |
G |
11: 51,535,253 (GRCm39) |
L312P |
probably damaging |
Het |
| Naxe |
T |
C |
3: 87,963,994 (GRCm39) |
T246A |
probably benign |
Het |
| Pcolce2 |
A |
T |
9: 95,519,847 (GRCm39) |
M1L |
probably benign |
Het |
| Slc7a6 |
G |
A |
8: 106,919,796 (GRCm39) |
A270T |
probably damaging |
Het |
| Sord |
T |
A |
2: 122,076,976 (GRCm39) |
I27K |
probably benign |
Het |
| Srek1ip1 |
A |
G |
13: 104,970,798 (GRCm39) |
E83G |
probably benign |
Het |
| Srgap3 |
A |
C |
6: 112,699,779 (GRCm39) |
N1090K |
probably benign |
Het |
| Sult2a6 |
A |
C |
7: 13,987,327 (GRCm39) |
|
probably null |
Het |
| Tacc2 |
T |
A |
7: 130,223,888 (GRCm39) |
I191N |
probably damaging |
Het |
| Thoc3 |
A |
G |
13: 54,615,708 (GRCm39) |
S119P |
probably damaging |
Het |
| Tle4 |
T |
C |
19: 14,429,876 (GRCm39) |
T632A |
probably benign |
Het |
| Tnfaip8l2 |
T |
A |
3: 95,047,486 (GRCm39) |
I126F |
probably benign |
Het |
| Txnrd1 |
A |
G |
10: 82,710,480 (GRCm39) |
T114A |
probably benign |
Het |
| Vmn2r14 |
A |
G |
5: 109,369,342 (GRCm39) |
L77P |
probably damaging |
Het |
| Wwc1 |
G |
A |
11: 35,758,198 (GRCm39) |
T716I |
probably damaging |
Het |
| Yod1 |
A |
G |
1: 130,645,360 (GRCm39) |
K47R |
probably benign |
Het |
| Zfhx2 |
A |
T |
14: 55,304,201 (GRCm39) |
M1261K |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,583,448 (GRCm39) |
I1105T |
possibly damaging |
Het |
| Zfp9 |
C |
A |
6: 118,441,353 (GRCm39) |
K436N |
probably damaging |
Het |
| Zfp979 |
T |
C |
4: 147,697,548 (GRCm39) |
H387R |
possibly damaging |
Het |
|
| Other mutations in Tirap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
torpid
|
UTSW |
9 |
35,198,707 (GRCm38) |
intron |
probably benign |
|
|
R0084:Tirap
|
UTSW |
9 |
35,100,458 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0184:Tirap
|
UTSW |
9 |
35,100,490 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0594:Tirap
|
UTSW |
9 |
35,100,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1490:Tirap
|
UTSW |
9 |
35,100,362 (GRCm39) |
small deletion |
probably benign |
|
|
R1833:Tirap
|
UTSW |
9 |
35,099,999 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1993:Tirap
|
UTSW |
9 |
35,102,312 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5703:Tirap
|
UTSW |
9 |
35,100,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5875:Tirap
|
UTSW |
9 |
35,100,465 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7257:Tirap
|
UTSW |
9 |
35,100,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7283:Tirap
|
UTSW |
9 |
35,100,225 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGACTACCTCCTAAAGTTCTTATC -3'
(R):5'- ACTACGATGTCTGCGTGTGC -3'
Sequencing Primer
(F):5'- AGTTCTTATCTAGACACTGGATGCC -3'
(R):5'- TCCTACTTGGAGGGTAGCCAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation