Incidental Mutation 'R5798:Timd2'
| ID |
447316 |
| 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 |
043210-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R5798 (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 46568064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 243
(I243M)
|
| 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: I243M
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000060891
Gene: ENSMUSG00000040413
AA Change: I243M
| 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: I243M
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000104848
Gene: ENSMUSG00000040413
AA Change: I243M
| 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: I243M
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000131540
Gene: ENSMUSG00000040413
AA Change: I243M
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,616,929 (GRCm39) |
Y1226* |
probably null |
Het |
| Ankle2 |
A |
G |
5: 110,399,401 (GRCm39) |
Y587C |
probably damaging |
Het |
| Ankrd52 |
T |
A |
10: 128,223,479 (GRCm39) |
M697K |
probably benign |
Het |
| Arhgef40 |
G |
T |
14: 52,234,489 (GRCm39) |
A931S |
probably damaging |
Het |
| Atp9a |
A |
G |
2: 168,532,884 (GRCm39) |
|
probably null |
Het |
| Ccdc169 |
T |
C |
3: 55,047,545 (GRCm39) |
V12A |
possibly damaging |
Het |
| Ces3b |
T |
A |
8: 105,815,072 (GRCm39) |
C284S |
probably damaging |
Het |
| Crocc |
TCTGAGCTGCTGAGCTGC |
TCTGAGCTGC |
4: 140,769,118 (GRCm39) |
|
probably null |
Het |
| Ecel1 |
A |
T |
1: 87,079,205 (GRCm39) |
M491K |
probably damaging |
Het |
| Gnaz |
C |
T |
10: 74,850,703 (GRCm39) |
R243W |
probably damaging |
Het |
| Homer1 |
C |
A |
13: 93,538,603 (GRCm39) |
R311S |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,191,480 (GRCm39) |
D1118G |
probably benign |
Het |
| Or14j10 |
A |
G |
17: 37,934,881 (GRCm39) |
V215A |
probably benign |
Het |
| Or52e7 |
A |
C |
7: 104,685,344 (GRCm39) |
K313T |
probably benign |
Het |
| Pecam1 |
C |
T |
11: 106,586,658 (GRCm39) |
E185K |
possibly damaging |
Het |
| Rfx2 |
A |
T |
17: 57,111,362 (GRCm39) |
V70E |
possibly damaging |
Het |
| Sdk2 |
G |
A |
11: 113,717,942 (GRCm39) |
T1474M |
probably damaging |
Het |
| Slc39a12 |
G |
A |
2: 14,454,637 (GRCm39) |
A516T |
probably damaging |
Het |
| Tanc2 |
TGCAGCAGCAGCAGCAGCAGCAGC |
TGCAGCAGCAGCAGCAGCAGC |
11: 105,812,681 (GRCm39) |
|
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,692,545 (GRCm39) |
S104T |
probably benign |
Het |
| Vmn2r56 |
T |
C |
7: 12,446,892 (GRCm39) |
N420S |
probably benign |
Het |
| Zfp148 |
T |
C |
16: 33,316,513 (GRCm39) |
I353T |
probably benign |
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 |
|
|
R4173:Timd2
|
UTSW |
11 |
46,561,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- CCACCTGCAGTCCTTTGTAG -3'
(R):5'- AGCTCCTTGGATCTTGCTGC -3'
Sequencing Primer
(F):5'- GTAGGTTCTAACACATCCCTTTAGG -3'
(R):5'- TGCTGCAAATTCTAGACTAGCC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation