Incidental Mutation 'IGL01289:Timd2'
ID72852
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Timd2
Ensembl Gene ENSMUSG00000040413
Gene NameT cell immunoglobulin and mucin domain containing 2
SynonymsTIM-2, Tim2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL01289
Quality Score
Status
Chromosome11
Chromosomal Location46668960-46707061 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 46679672 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T A 7: 131,138,621 M289L probably benign Het
Actg2 A T 6: 83,523,175 M38K probably damaging Het
Atp8a2 G A 14: 59,691,461 A1048V probably benign Het
Cables1 T C 18: 11,944,564 V583A probably damaging Het
Ccng2 A G 5: 93,273,417 K262R probably null Het
Cfap206 C A 4: 34,716,469 S332I probably null Het
Dscam A T 16: 96,643,882 Y1536* probably null Het
Fam136b-ps T A 15: 31,276,864 probably benign Het
Fga A G 3: 83,031,245 Y309C possibly damaging Het
Fgd4 A T 16: 16,484,303 N129K probably damaging Het
Gbp8 G A 5: 105,017,869 A306V probably benign Het
Hecw1 T C 13: 14,264,134 Y888C probably damaging Het
Herc6 G A 6: 57,598,623 G210R probably damaging Het
Ints7 G A 1: 191,615,778 R754H probably benign Het
Itga1 T C 13: 114,986,226 I731M possibly damaging Het
Itpr2 T A 6: 146,112,535 K2588* probably null Het
Itpr3 T A 17: 27,099,765 M965K probably damaging Het
Kif22 A G 7: 127,033,473 V247A probably damaging Het
Lrrc17 T C 5: 21,560,901 F127S probably damaging Het
Lrriq4 T A 3: 30,650,393 L190Q probably damaging Het
Mcee T A 7: 64,400,318 F66I probably damaging Het
Med23 T C 10: 24,902,121 F789S probably damaging Het
Nmd3 T G 3: 69,724,287 S25R possibly damaging Het
Npy5r T A 8: 66,681,866 N92Y possibly damaging Het
Olfr1241 A G 2: 89,482,847 M96T probably benign Het
Rnf224 G T 2: 25,236,247 D31E possibly damaging Het
Ttll13 T A 7: 80,260,439 C777S probably benign Het
Tubgcp3 A G 8: 12,639,625 L547P probably damaging Het
Usp47 G T 7: 112,063,358 V236F probably damaging Het
Xirp2 A T 2: 67,513,181 N1922I probably damaging Het
Zdhhc24 G T 19: 4,878,822 W25L probably damaging Het
Other mutations in Timd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01015:Timd2 APN 11 46676343 missense probably benign 0.15
IGL02066:Timd2 APN 11 46678223 missense probably damaging 0.98
IGL02439:Timd2 APN 11 46678236 splice site probably benign
R2217:Timd2 UTSW 11 46687017 missense probably damaging 1.00
R2218:Timd2 UTSW 11 46687017 missense probably damaging 1.00
R2240:Timd2 UTSW 11 46678216 missense probably benign 0.01
R3621:Timd2 UTSW 11 46678213 missense probably benign 0.00
R3876:Timd2 UTSW 11 46671020 critical splice acceptor site probably null
R4173:Timd2 UTSW 11 46670960 missense probably benign 0.00
R4793:Timd2 UTSW 11 46687181 missense probably damaging 1.00
R4799:Timd2 UTSW 11 46677267 nonsense probably null
R4963:Timd2 UTSW 11 46682790 missense possibly damaging 0.66
R5314:Timd2 UTSW 11 46677260 missense probably benign 0.09
R5798:Timd2 UTSW 11 46677237 missense probably benign 0.06
R6074:Timd2 UTSW 11 46687172 missense possibly damaging 0.88
R6090:Timd2 UTSW 11 46687236 missense probably benign 0.11
R6694:Timd2 UTSW 11 46670952 nonsense probably null
R7817:Timd2 UTSW 11 46670954 missense probably benign 0.00
Z1177:Timd2 UTSW 11 46679679 missense probably benign 0.26
Posted On2013-10-07