Incidental Mutation 'IGL01289:Timd2'
| ID |
72852 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Timd2
|
| Ensembl Gene |
ENSMUSG00000040413 |
| Gene Name |
T cell immunoglobulin and mucin domain containing 2 |
| Synonyms |
TIM-2, Tim2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
IGL01289
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
46559787-46597888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46570499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 192
(E192G)
|
| 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: E192G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000060891
Gene: ENSMUSG00000040413
AA Change: E192G
| 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: E192G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104848
Gene: ENSMUSG00000040413
AA Change: E192G
| 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: E192G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000131540
Gene: ENSMUSG00000040413
AA Change: E192G
| 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 |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
A |
7: 130,740,350 (GRCm39) |
M289L |
probably benign |
Het |
| Actg2 |
A |
T |
6: 83,500,157 (GRCm39) |
M38K |
probably damaging |
Het |
| Atp8a2 |
G |
A |
14: 59,928,910 (GRCm39) |
A1048V |
probably benign |
Het |
| Cables1 |
T |
C |
18: 12,077,621 (GRCm39) |
V583A |
probably damaging |
Het |
| Ccng2 |
A |
G |
5: 93,421,276 (GRCm39) |
K262R |
probably null |
Het |
| Cfap206 |
C |
A |
4: 34,716,469 (GRCm39) |
S332I |
probably null |
Het |
| Dscam |
A |
T |
16: 96,445,082 (GRCm39) |
Y1536* |
probably null |
Het |
| Fam136b-ps |
T |
A |
15: 31,277,010 (GRCm39) |
|
probably benign |
Het |
| Fga |
A |
G |
3: 82,938,552 (GRCm39) |
Y309C |
possibly damaging |
Het |
| Fgd4 |
A |
T |
16: 16,302,167 (GRCm39) |
N129K |
probably damaging |
Het |
| Gbp8 |
G |
A |
5: 105,165,735 (GRCm39) |
A306V |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,438,719 (GRCm39) |
Y888C |
probably damaging |
Het |
| Herc6 |
G |
A |
6: 57,575,608 (GRCm39) |
G210R |
probably damaging |
Het |
| Ints7 |
G |
A |
1: 191,347,890 (GRCm39) |
R754H |
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,122,762 (GRCm39) |
I731M |
possibly damaging |
Het |
| Itpr2 |
T |
A |
6: 146,014,033 (GRCm39) |
K2588* |
probably null |
Het |
| Itpr3 |
T |
A |
17: 27,318,739 (GRCm39) |
M965K |
probably damaging |
Het |
| Kif22 |
A |
G |
7: 126,632,645 (GRCm39) |
V247A |
probably damaging |
Het |
| Lrrc17 |
T |
C |
5: 21,765,899 (GRCm39) |
F127S |
probably damaging |
Het |
| Lrriq4 |
T |
A |
3: 30,704,542 (GRCm39) |
L190Q |
probably damaging |
Het |
| Mcee |
T |
A |
7: 64,050,066 (GRCm39) |
F66I |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,778,019 (GRCm39) |
F789S |
probably damaging |
Het |
| Nmd3 |
T |
G |
3: 69,631,620 (GRCm39) |
S25R |
possibly damaging |
Het |
| Npy5r |
T |
A |
8: 67,134,518 (GRCm39) |
N92Y |
possibly damaging |
Het |
| Or4a69 |
A |
G |
2: 89,313,191 (GRCm39) |
M96T |
probably benign |
Het |
| Rnf224 |
G |
T |
2: 25,126,259 (GRCm39) |
D31E |
possibly damaging |
Het |
| Ttll13 |
T |
A |
7: 79,910,187 (GRCm39) |
C777S |
probably benign |
Het |
| Tubgcp3 |
A |
G |
8: 12,689,625 (GRCm39) |
L547P |
probably damaging |
Het |
| Usp47 |
G |
T |
7: 111,662,565 (GRCm39) |
V236F |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,343,525 (GRCm39) |
N1922I |
probably damaging |
Het |
| Zdhhc24 |
G |
T |
19: 4,928,850 (GRCm39) |
W25L |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation