Incidental Mutation 'R6090:Timd2'
| ID |
486152 |
| 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 |
044247-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R6090 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
46559787-46597888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46578063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 23
(T23A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055102]
[ENSMUST00000109225]
[ENSMUST00000125008]
[ENSMUST00000169584]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055102
AA Change: T23A
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000060891
Gene: ENSMUSG00000040413
AA Change: T23A
| 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: T23A
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000104848
Gene: ENSMUSG00000040413
AA Change: T23A
| 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: ENSMUST00000125008
AA Change: T23A
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000123042
Gene: ENSMUSG00000040413
AA Change: T23A
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2OR7|B
|
19 |
92 |
6e-50 |
PDB |
|
Blast:IG
|
22 |
92 |
4e-47 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169584
AA Change: T23A
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000131540
Gene: ENSMUSG00000040413
AA Change: T23A
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.6%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
T |
6: 121,624,972 (GRCm39) |
A450V |
probably benign |
Het |
| Abca8a |
T |
C |
11: 109,954,048 (GRCm39) |
|
probably null |
Het |
| Adgrl3 |
A |
T |
5: 81,660,173 (GRCm39) |
N246I |
probably damaging |
Het |
| Bmal2 |
T |
A |
6: 146,731,194 (GRCm39) |
S500T |
possibly damaging |
Het |
| Cdipt |
A |
T |
7: 126,576,131 (GRCm39) |
M29L |
possibly damaging |
Het |
| Chml |
G |
T |
1: 175,514,624 (GRCm39) |
Y432* |
probably null |
Het |
| Clasp2 |
G |
T |
9: 113,681,803 (GRCm39) |
V320L |
probably benign |
Het |
| Col12a1 |
G |
A |
9: 79,599,675 (GRCm39) |
T826M |
probably damaging |
Het |
| Cpsf3 |
A |
G |
12: 21,345,194 (GRCm39) |
I169V |
probably damaging |
Het |
| Dhx36 |
G |
A |
3: 62,404,241 (GRCm39) |
T234M |
probably damaging |
Het |
| Dhx57 |
A |
G |
17: 80,571,375 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
A |
T |
14: 30,991,382 (GRCm39) |
I3132N |
possibly damaging |
Het |
| Fbxw20 |
G |
T |
9: 109,052,431 (GRCm39) |
Q231K |
probably benign |
Het |
| Gfod1 |
G |
T |
13: 43,354,437 (GRCm39) |
Y179* |
probably null |
Het |
| Glg1 |
T |
A |
8: 111,907,667 (GRCm39) |
I510F |
probably damaging |
Het |
| Gm10801 |
TC |
TCGGC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
| Gse1 |
C |
A |
8: 121,297,908 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Klrd1 |
T |
C |
6: 129,572,499 (GRCm39) |
L97P |
probably damaging |
Het |
| Lgmn |
A |
T |
12: 102,366,413 (GRCm39) |
M240K |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,075,880 (GRCm39) |
|
probably null |
Het |
| Notch2 |
A |
T |
3: 98,042,693 (GRCm39) |
R1353* |
probably null |
Het |
| Or2d2b |
A |
G |
7: 106,705,456 (GRCm39) |
V204A |
possibly damaging |
Het |
| Or5t18 |
A |
C |
2: 86,636,701 (GRCm39) |
V214G |
possibly damaging |
Het |
| Pcdhb14 |
G |
A |
18: 37,581,659 (GRCm39) |
S255N |
probably benign |
Het |
| Pcgf2 |
C |
T |
11: 97,581,817 (GRCm39) |
M25I |
possibly damaging |
Het |
| Poll |
G |
T |
19: 45,544,436 (GRCm39) |
D328E |
probably benign |
Het |
| Pomgnt2 |
A |
T |
9: 121,811,863 (GRCm39) |
L306Q |
probably damaging |
Het |
| Proser1 |
A |
T |
3: 53,386,088 (GRCm39) |
M657L |
probably benign |
Het |
| Rbm47 |
G |
C |
5: 66,183,626 (GRCm39) |
R326G |
probably damaging |
Het |
| Rdh11 |
G |
T |
12: 79,235,838 (GRCm39) |
P37T |
probably benign |
Het |
| Rsph10b |
A |
T |
5: 143,913,946 (GRCm39) |
I286L |
probably benign |
Het |
| Septin4 |
G |
A |
11: 87,480,343 (GRCm39) |
R238K |
possibly damaging |
Het |
| Sptan1 |
C |
T |
2: 29,883,899 (GRCm39) |
R580C |
probably damaging |
Het |
| Stard9 |
T |
A |
2: 120,524,135 (GRCm39) |
W777R |
probably damaging |
Het |
| Tmc4 |
A |
G |
7: 3,674,052 (GRCm39) |
Y376H |
probably damaging |
Het |
| Tmem143 |
A |
G |
7: 45,558,950 (GRCm39) |
I297M |
probably benign |
Het |
| Togaram1 |
A |
G |
12: 65,014,575 (GRCm39) |
T609A |
probably benign |
Het |
| Tyw3 |
T |
C |
3: 154,302,704 (GRCm39) |
H10R |
probably benign |
Het |
| Unc13b |
C |
A |
4: 43,239,306 (GRCm39) |
H3456Q |
probably damaging |
Het |
| Zfp131 |
A |
T |
13: 120,237,532 (GRCm39) |
H275Q |
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 |
|
|
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 |
|
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 |
|
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'- TCTATGGTCAAGGACACATTTCC -3'
(R):5'- CACCAATGATCAGCAAGGGC -3'
Sequencing Primer
(F):5'- GAAATATTCCCCTTTAGCTGGTATCG -3'
(R):5'- CAAGGGCTGAAGCTGTCCAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation