Incidental Mutation 'IGL00587:Ticam2'
| ID |
14462 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ticam2
|
| Ensembl Gene |
ENSMUSG00000056130 |
| Gene Name |
TIR domain containing adaptor molecule 2 |
| Synonyms |
TRAM, Tirp |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00587
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
46691298-46707600 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46693880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 69
(E69G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036030]
[ENSMUST00000070084]
|
| AlphaFold |
Q8BJQ4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036030
|
| SMART Domains |
Protein: ENSMUSP00000043660
Gene: ENSMUSG00000033184
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
EMP24_GP25L
|
36 |
188 |
1.1e-45 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070084
AA Change: E69G
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000066239
Gene: ENSMUSG00000056130
AA Change: E69G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TIR_2
|
78 |
192 |
2e-10 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TIRP is a Toll/interleukin-1 receptor (IL1R; MIM 147810) (TIR) domain-containing adaptor protein involved in Toll receptor signaling (see TLR4; MIM 603030).[supplied by OMIM, Apr 2004]
PHENOTYPE: Homozygous inactivation of this gene affects TLR4-mediated immune responses. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted, knock-out(2)
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amigo2 |
A |
C |
15: 97,143,327 (GRCm39) |
M365R |
possibly damaging |
Het |
| Atat1 |
T |
C |
17: 36,208,775 (GRCm39) |
D352G |
probably benign |
Het |
| Bbs12 |
A |
G |
3: 37,374,346 (GRCm39) |
T265A |
probably damaging |
Het |
| Cd300c |
A |
T |
11: 114,850,616 (GRCm39) |
N62K |
probably benign |
Het |
| Cdk5rap3 |
A |
G |
11: 96,804,225 (GRCm39) |
S43P |
probably damaging |
Het |
| Chchd6 |
A |
T |
6: 89,546,399 (GRCm39) |
|
probably null |
Het |
| Cr2 |
C |
T |
1: 194,836,559 (GRCm39) |
R868Q |
possibly damaging |
Het |
| Cyp2d9 |
T |
C |
15: 82,339,344 (GRCm39) |
S126P |
possibly damaging |
Het |
| Dsg3 |
T |
A |
18: 20,672,711 (GRCm39) |
I794N |
probably damaging |
Het |
| Fga |
A |
T |
3: 82,937,596 (GRCm39) |
S158C |
possibly damaging |
Het |
| Gm14240 |
T |
C |
2: 155,894,870 (GRCm39) |
|
probably null |
Het |
| Itga1 |
C |
A |
13: 115,148,785 (GRCm39) |
V279L |
probably damaging |
Het |
| Kdm1b |
T |
C |
13: 47,222,016 (GRCm39) |
V485A |
probably benign |
Het |
| Mfap3l |
T |
C |
8: 61,124,943 (GRCm39) |
V395A |
probably benign |
Het |
| Nlrp14 |
T |
A |
7: 106,780,974 (GRCm39) |
V57E |
probably benign |
Het |
| P2ry12 |
A |
T |
3: 59,125,303 (GRCm39) |
I124K |
probably damaging |
Het |
| Paxip1 |
A |
G |
5: 27,977,550 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,470,222 (GRCm39) |
|
probably benign |
Het |
| Rab28 |
T |
C |
5: 41,860,799 (GRCm39) |
R52G |
probably benign |
Het |
| Rrp15 |
T |
C |
1: 186,453,745 (GRCm39) |
|
probably null |
Het |
| Sel1l2 |
G |
A |
2: 140,085,864 (GRCm39) |
L539F |
possibly damaging |
Het |
| Zcchc2 |
T |
A |
1: 105,957,993 (GRCm39) |
S821R |
probably benign |
Het |
| Zcchc4 |
T |
A |
5: 52,973,511 (GRCm39) |
S379T |
probably benign |
Het |
| Zfp53 |
T |
C |
17: 21,728,600 (GRCm39) |
V211A |
probably benign |
Het |
| Zmym2 |
T |
G |
14: 57,140,817 (GRCm39) |
S219A |
possibly damaging |
Het |
|
| Other mutations in Ticam2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Branch
|
UTSW |
18 |
46,693,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Consequential
|
UTSW |
18 |
46,693,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Messi
|
UTSW |
18 |
46,693,989 (GRCm39) |
nonsense |
probably null |
|
|
R0056:Ticam2
|
UTSW |
18 |
46,693,401 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0056:Ticam2
|
UTSW |
18 |
46,693,401 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0666:Ticam2
|
UTSW |
18 |
46,693,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1676:Ticam2
|
UTSW |
18 |
46,693,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2209:Ticam2
|
UTSW |
18 |
46,693,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4927:Ticam2
|
UTSW |
18 |
46,693,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Ticam2
|
UTSW |
18 |
46,693,989 (GRCm39) |
nonsense |
probably null |
|
|
R6841:Ticam2
|
UTSW |
18 |
46,693,998 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7489:Ticam2
|
UTSW |
18 |
46,693,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8407:Ticam2
|
UTSW |
18 |
46,693,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9166:Ticam2
|
UTSW |
18 |
46,694,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9451:Ticam2
|
UTSW |
18 |
46,693,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9467:Ticam2
|
UTSW |
18 |
46,693,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9508:Ticam2
|
UTSW |
18 |
46,693,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9711:Ticam2
|
UTSW |
18 |
46,693,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ticam2
|
UTSW |
18 |
46,693,915 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2012-12-06 |
Incidental Mutation