Incidental Mutation 'IGL01349:Itk'
ID75280
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itk
Ensembl Gene ENSMUSG00000020395
Gene NameIL2 inducible T cell kinase
SynonymsEmt, Tsk, Tcsk
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.146) question?
Stock #IGL01349
Quality Score
Status
Chromosome11
Chromosomal Location46325150-46389515 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 46341200 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 303 (T303S)
Ref Sequence ENSEMBL: ENSMUSP00000104860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020664] [ENSMUST00000101306] [ENSMUST00000109237]
PDB Structure INTRAMOLECULAR ITK-PROLINE COMPLEX, NMR, MINIMIZED AVERAGE STRUCTURE [SOLUTION NMR]
NMR Structures of Itk SH2 domain, Pro287cis isoform, ensemble of 20 low energy structures [SOLUTION NMR]
NMR Structure of the Itk SH2 domain, Pro287cis, Energy minimized average structure [SOLUTION NMR]
NMR Structure of the Itk SH2 domain, Pro287trans, 20 low energy structures [SOLUTION NMR]
NMR Structure of the Itk SH2 domain, Pro287trans, energy minimized average structure [SOLUTION NMR]
The NMR minimized average structure of the Itk SH2 domain bound to a phosphopeptide [SOLUTION NMR]
The NMR ensemble structure of the Itk SH2 domain bound to a phosphopeptide [SOLUTION NMR]
Solution Structure of the binary complex between the SH3 and SH2 domain of interleukin-2 tyrosine kinase [SOLUTION NMR]
Ensemble Structures of the binary complex between the SH3 and SH2 domain of interleukin-2 tyrosine kinase. [SOLUTION NMR]
NMR structure note: murine Itk SH3 domain [SOLUTION NMR]
>> 2 additional structures at PDB <<
Predicted Effect possibly damaging
Transcript: ENSMUST00000020664
AA Change: T297S

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000020664
Gene: ENSMUSG00000020395
AA Change: T297S

DomainStartEndE-ValueType
PH 5 113 2.3e-13 SMART
BTK 113 149 1.1e-21 SMART
SH3 174 230 5.87e-14 SMART
SH2 237 328 9.44e-29 SMART
TyrKc 362 611 3.28e-133 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000101306
SMART Domains Protein: ENSMUSP00000098864
Gene: ENSMUSG00000020395

DomainStartEndE-ValueType
PH 5 113 2.3e-13 SMART
BTK 113 149 1.1e-21 SMART
SH3 174 230 5.87e-14 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000109237
AA Change: T303S

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104860
Gene: ENSMUSG00000020395
AA Change: T303S

DomainStartEndE-ValueType
PH 5 119 3.94e-12 SMART
BTK 119 155 1.1e-21 SMART
SH3 180 236 5.87e-14 SMART
SH2 243 334 9.44e-29 SMART
TyrKc 368 617 3.28e-133 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148132
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an intracellular tyrosine kinase expressed in T-cells. The protein contains both SH2 and SH3 domains which are often found in intracellular kinases. It is thought to play a role in T-cell proliferation and differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display decreased percentages of CD4 and CD8 cells, increased percentage of B cells, impaired T cell receptor signaling, and increased susceptibility to Toxoplasma gondii infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,292,076 S1313L probably benign Het
Adam28 T C 14: 68,611,006 H667R probably benign Het
Arap1 T C 7: 101,387,152 V382A possibly damaging Het
Arih2 T C 9: 108,605,410 Y444C probably damaging Het
Asxl3 T G 18: 22,524,237 V1768G probably benign Het
Bbs9 T A 9: 22,887,683 M869K probably benign Het
C4bp A G 1: 130,642,928 probably benign Het
Cc2d2a A T 5: 43,723,784 Y1167F probably benign Het
Cgn T A 3: 94,767,176 K884* probably null Het
Chd1l T C 3: 97,591,234 Y283C probably benign Het
Cry1 A G 10: 85,148,739 V157A probably benign Het
Dcc T A 18: 71,370,737 D950V probably damaging Het
Dlc1 A G 8: 36,583,824 F918L probably damaging Het
Dnah2 T C 11: 69,475,606 N1890S probably damaging Het
Dnah5 A G 15: 28,294,913 probably benign Het
Eif4b C T 15: 102,091,423 T412I probably benign Het
Eloa A C 4: 136,014,447 Y29D probably benign Het
Erbb4 A G 1: 68,346,593 F279S probably benign Het
Etl4 A G 2: 20,713,396 D316G probably damaging Het
Gm5114 T C 7: 39,409,107 S363G probably benign Het
Gpam A G 19: 55,096,119 probably null Het
Il17rd T A 14: 27,095,944 S197T probably damaging Het
Iqsec3 T C 6: 121,473,124 E147G possibly damaging Het
Kcnh6 A G 11: 106,023,917 D716G possibly damaging Het
Lca5 A G 9: 83,426,617 S59P probably damaging Het
Lrrc40 T C 3: 158,058,665 probably benign Het
Mmp7 T C 9: 7,699,334 probably benign Het
Mycbp2 T C 14: 103,122,547 T4427A probably damaging Het
Nf2 T C 11: 4,784,472 D513G possibly damaging Het
Olfr10 T A 11: 49,318,300 Y251* probably null Het
Pde7a C T 3: 19,229,679 probably benign Het
Pira2 T C 7: 3,844,139 T135A probably damaging Het
Rb1 T C 14: 73,269,118 Y397C probably damaging Het
Ros1 A T 10: 52,051,026 M2187K probably damaging Het
Ryr2 T A 13: 11,587,239 I4586F possibly damaging Het
Serpinb3c A T 1: 107,272,783 M210K probably damaging Het
Slc22a19 C A 19: 7,674,427 V472F probably benign Het
Slc4a11 A G 2: 130,686,943 I462T probably benign Het
Spag11b A T 8: 19,141,476 H55L probably damaging Het
Trpv5 G T 6: 41,675,375 N125K possibly damaging Het
Ubr4 G T 4: 139,480,728 R4940L unknown Het
Vcan T A 13: 89,703,943 H966L probably damaging Het
Vmn1r204 T A 13: 22,556,334 I45K probably damaging Het
Vnn3 A T 10: 23,851,916 I75F probably damaging Het
Vps13b A T 15: 35,793,945 M2256L probably benign Het
Zfc3h1 T A 10: 115,423,448 L1642M probably damaging Het
Other mutations in Itk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Itk APN 11 46367896 missense probably damaging 1.00
IGL03290:Itk APN 11 46334937 missense probably damaging 1.00
IGL03385:Itk APN 11 46331861 nonsense probably null
Calame UTSW 11 46342395 splice site probably null
carbone UTSW 11 46331949 nonsense probably null
goodnow UTSW 11 46338099 splice site probably null
itxaro UTSW 11 46338217 missense probably damaging 1.00
BB009:Itk UTSW 11 46340692 missense probably benign
BB019:Itk UTSW 11 46340692 missense probably benign
R0095:Itk UTSW 11 46342452 missense probably damaging 0.99
R0265:Itk UTSW 11 46389458 start gained probably benign
R0281:Itk UTSW 11 46353916 missense probably damaging 1.00
R0463:Itk UTSW 11 46331989 missense probably damaging 1.00
R0518:Itk UTSW 11 46360288 missense probably damaging 0.98
R0521:Itk UTSW 11 46360288 missense probably damaging 0.98
R1121:Itk UTSW 11 46331894 missense possibly damaging 0.93
R1550:Itk UTSW 11 46389326 missense probably damaging 1.00
R1762:Itk UTSW 11 46336482 missense probably damaging 0.98
R2418:Itk UTSW 11 46338217 missense probably damaging 1.00
R2419:Itk UTSW 11 46338217 missense probably damaging 1.00
R2859:Itk UTSW 11 46344835 intron probably benign
R3107:Itk UTSW 11 46327464 missense probably benign 0.15
R3546:Itk UTSW 11 46355848 missense probably benign 0.00
R4601:Itk UTSW 11 46336515 missense probably benign 0.17
R4610:Itk UTSW 11 46336515 missense probably benign 0.17
R4792:Itk UTSW 11 46344831 intron probably benign
R4885:Itk UTSW 11 46336344 splice site probably null
R4934:Itk UTSW 11 46389325 missense probably damaging 1.00
R5286:Itk UTSW 11 46338099 splice site probably null
R5328:Itk UTSW 11 46331876 missense probably benign 0.04
R5399:Itk UTSW 11 46338111 missense probably benign 0.44
R5958:Itk UTSW 11 46344855 intron probably benign
R6235:Itk UTSW 11 46336428 missense probably benign 0.16
R6828:Itk UTSW 11 46341218 missense probably damaging 1.00
R6849:Itk UTSW 11 46331935 missense probably damaging 1.00
R7356:Itk UTSW 11 46367832 missense possibly damaging 0.72
R7753:Itk UTSW 11 46331895 missense probably damaging 1.00
R7932:Itk UTSW 11 46340692 missense probably benign
R7988:Itk UTSW 11 46355834 missense probably damaging 0.99
R8188:Itk UTSW 11 46331949 nonsense probably null
R8337:Itk UTSW 11 46342395 splice site probably null
R8738:Itk UTSW 11 46340712 missense probably damaging 1.00
U24488:Itk UTSW 11 46338144 missense probably damaging 1.00
X0062:Itk UTSW 11 46366044 missense probably benign 0.15
Z1088:Itk UTSW 11 46353862 splice site probably null
Posted On2013-10-07