Incidental Mutation 'R4173:Timd2'
| ID |
318214 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Timd2
|
| Ensembl Gene |
ENSMUSG00000040413 |
| Gene Name |
T cell immunoglobulin and mucin domain containing 2 |
| Synonyms |
TIM-2, Tim2 |
| MMRRC Submission |
041012-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R4173 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
46559787-46597888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46561787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 286
(T286A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055102]
[ENSMUST00000109225]
[ENSMUST00000169584]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055102
AA Change: T286A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000060891
Gene: ENSMUSG00000040413
AA Change: T286A
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
22 |
127 |
7.08e-4 |
SMART |
|
low complexity region
|
131 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
167 |
N/A |
INTRINSIC |
|
transmembrane domain
|
231 |
253 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109225
AA Change: T286A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000104848
Gene: ENSMUSG00000040413
AA Change: T286A
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
22 |
127 |
7.08e-4 |
SMART |
|
low complexity region
|
131 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
167 |
N/A |
INTRINSIC |
|
transmembrane domain
|
231 |
253 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169584
AA Change: T286A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000131540
Gene: ENSMUSG00000040413
AA Change: T286A
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
22 |
127 |
7.08e-4 |
SMART |
|
low complexity region
|
131 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
167 |
N/A |
INTRINSIC |
|
transmembrane domain
|
231 |
253 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit an exacerbated inflammatory response. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akip1 |
C |
T |
7: 109,306,716 (GRCm39) |
Q138* |
probably null |
Het |
| Cdk1 |
T |
C |
10: 69,180,991 (GRCm39) |
D73G |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,795,214 (GRCm39) |
E983G |
probably damaging |
Het |
| Gnmt |
A |
G |
17: 47,037,047 (GRCm39) |
V217A |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,153,540 (GRCm39) |
E142G |
probably damaging |
Het |
| Nr1h5 |
C |
T |
3: 102,859,546 (GRCm39) |
R171H |
probably damaging |
Het |
| Opcml |
C |
T |
9: 28,814,654 (GRCm39) |
T302I |
probably benign |
Het |
| Or4c58 |
T |
G |
2: 89,675,122 (GRCm39) |
D65A |
probably damaging |
Het |
| Pcdha11 |
T |
C |
18: 37,145,676 (GRCm39) |
V589A |
probably damaging |
Het |
| Pigl |
T |
A |
11: 62,349,337 (GRCm39) |
F18I |
probably benign |
Het |
| Pip4k2b |
T |
C |
11: 97,613,201 (GRCm39) |
K265R |
probably benign |
Het |
| Rora |
C |
A |
9: 68,561,192 (GRCm39) |
T35K |
probably benign |
Het |
| Serpinb9e |
A |
G |
13: 33,439,141 (GRCm39) |
N189S |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc25a45 |
C |
A |
19: 5,930,611 (GRCm39) |
Y99* |
probably null |
Het |
| Smgc |
T |
C |
15: 91,744,759 (GRCm39) |
S655P |
possibly damaging |
Het |
| Thbs2 |
A |
C |
17: 14,901,893 (GRCm39) |
|
probably null |
Het |
| Trav6d-3 |
A |
G |
14: 52,962,806 (GRCm39) |
I14M |
probably benign |
Het |
| Trim28 |
A |
G |
7: 12,763,805 (GRCm39) |
D622G |
probably benign |
Het |
| Txnl4b |
G |
A |
8: 110,295,706 (GRCm39) |
V37I |
probably benign |
Het |
| Ubr1 |
C |
T |
2: 120,777,103 (GRCm39) |
|
probably null |
Het |
| Vps13c |
A |
G |
9: 67,843,595 (GRCm39) |
N1959D |
probably benign |
Het |
| Xkr4 |
A |
G |
1: 3,286,711 (GRCm39) |
F493S |
probably damaging |
Het |
| Xrn2 |
T |
C |
2: 146,889,612 (GRCm39) |
V665A |
probably damaging |
Het |
|
| Other mutations in Timd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01015:Timd2
|
APN |
11 |
46,567,170 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01289:Timd2
|
APN |
11 |
46,570,499 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02066:Timd2
|
APN |
11 |
46,569,050 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02439:Timd2
|
APN |
11 |
46,569,063 (GRCm39) |
splice site |
probably benign |
|
|
R2217:Timd2
|
UTSW |
11 |
46,577,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2218:Timd2
|
UTSW |
11 |
46,577,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2240:Timd2
|
UTSW |
11 |
46,569,043 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3621:Timd2
|
UTSW |
11 |
46,569,040 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3876:Timd2
|
UTSW |
11 |
46,561,847 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4793:Timd2
|
UTSW |
11 |
46,578,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Timd2
|
UTSW |
11 |
46,568,094 (GRCm39) |
nonsense |
probably null |
|
|
R4963:Timd2
|
UTSW |
11 |
46,573,617 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5314:Timd2
|
UTSW |
11 |
46,568,087 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5798:Timd2
|
UTSW |
11 |
46,568,064 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6074:Timd2
|
UTSW |
11 |
46,577,999 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6090:Timd2
|
UTSW |
11 |
46,578,063 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6694:Timd2
|
UTSW |
11 |
46,561,779 (GRCm39) |
nonsense |
probably null |
|
|
R7817:Timd2
|
UTSW |
11 |
46,561,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8379:Timd2
|
UTSW |
11 |
46,568,027 (GRCm39) |
splice site |
probably null |
|
|
R9321:Timd2
|
UTSW |
11 |
46,577,916 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9483:Timd2
|
UTSW |
11 |
46,577,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9763:Timd2
|
UTSW |
11 |
46,573,540 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Timd2
|
UTSW |
11 |
46,570,506 (GRCm39) |
missense |
probably benign |
0.26 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGTGTACACAGTAGAGGGTTACC -3'
(R):5'- AATACTGAGGGCCTGTGTGG -3'
Sequencing Primer
(F):5'- CCTCTCCACTACAGCTGGAAG -3'
(R):5'- AGGGCCTGTGTGGAACTATTCAC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation