Incidental Mutation 'IGL03385:Itk'
ID 420839
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itk
Ensembl Gene ENSMUSG00000020395
Gene Name IL2 inducible T cell kinase
Synonyms Tcsk, Tsk, Emt
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # IGL03385
Quality Score
Status
Chromosome 11
Chromosomal Location 46215977-46280342 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 46222688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 594 (Q594*)
Ref Sequence ENSEMBL: ENSMUSP00000104860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020664] [ENSMUST00000109237]
AlphaFold Q03526
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 probably null
Transcript: ENSMUST00000020664
AA Change: Q588*
SMART Domains Protein: ENSMUSP00000020664
Gene: ENSMUSG00000020395
AA Change: Q588*

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 null
Transcript: ENSMUST00000109237
AA Change: Q594*
SMART Domains Protein: ENSMUSP00000104860
Gene: ENSMUSG00000020395
AA Change: Q594*

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
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bbs9 A G 9: 22,555,044 (GRCm39) T444A probably benign Het
Cdh20 A G 1: 109,993,516 (GRCm39) T324A possibly damaging Het
Col14a1 C A 15: 55,273,600 (GRCm39) T723K unknown Het
Col14a1 G A 15: 55,335,104 (GRCm39) G1513S unknown Het
Col1a2 C A 6: 4,539,612 (GRCm39) N1293K unknown Het
Ctdp1 T C 18: 80,493,133 (GRCm39) D454G probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
G3bp2 A G 5: 92,216,254 (GRCm39) V94A probably damaging Het
Gm973 A G 1: 59,621,629 (GRCm39) S590G probably benign Het
Gon4l A T 3: 88,814,850 (GRCm39) T1940S probably benign Het
Kcnc2 G A 10: 112,291,691 (GRCm39) C293Y probably damaging Het
Krit1 A G 5: 3,857,452 (GRCm39) I86V possibly damaging Het
Lyst T A 13: 13,831,565 (GRCm39) L1663* probably null Het
Moxd2 T C 6: 40,855,952 (GRCm39) T546A probably damaging Het
Myo7b G T 18: 32,122,630 (GRCm39) Q717K probably benign Het
Or2a51 T C 6: 43,178,914 (GRCm39) V112A probably benign Het
Or2ad1 A G 13: 21,326,657 (GRCm39) V190A probably benign Het
Ostm1 A C 10: 42,574,140 (GRCm39) N123H probably damaging Het
Pcdh10 A C 3: 45,335,947 (GRCm39) S754R possibly damaging Het
Pomt2 A T 12: 87,163,330 (GRCm39) L613Q probably damaging Het
Samd9l T A 6: 3,376,208 (GRCm39) N351I probably damaging Het
Serpinb9 T C 13: 33,191,979 (GRCm39) probably benign Het
Slc12a4 T A 8: 106,677,496 (GRCm39) probably benign Het
Smgc T A 15: 91,726,181 (GRCm39) H42Q possibly damaging Het
Tor1a A G 2: 30,853,739 (GRCm39) V197A possibly damaging Het
Ttc4 A G 4: 106,525,397 (GRCm39) S246P probably benign Het
Tti1 G A 2: 157,834,945 (GRCm39) A1005V possibly damaging Het
Ugt3a1 A T 15: 9,338,824 (GRCm39) I63F probably damaging Het
Other mutations in Itk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Itk APN 11 46,258,723 (GRCm39) missense probably damaging 1.00
IGL01349:Itk APN 11 46,232,027 (GRCm39) missense possibly damaging 0.84
IGL03290:Itk APN 11 46,225,764 (GRCm39) missense probably damaging 1.00
Calame UTSW 11 46,233,222 (GRCm39) splice site probably null
carbone UTSW 11 46,222,776 (GRCm39) nonsense probably null
demon UTSW 11 46,231,539 (GRCm39) missense probably damaging 1.00
goodnow UTSW 11 46,228,926 (GRCm39) splice site probably null
itxaro UTSW 11 46,229,044 (GRCm39) missense probably damaging 1.00
Segun UTSW 11 46,235,710 (GRCm39) intron probably benign
BB009:Itk UTSW 11 46,231,519 (GRCm39) missense probably benign
BB019:Itk UTSW 11 46,231,519 (GRCm39) missense probably benign
R0095:Itk UTSW 11 46,233,279 (GRCm39) missense probably damaging 0.99
R0265:Itk UTSW 11 46,280,285 (GRCm39) start gained probably benign
R0281:Itk UTSW 11 46,244,743 (GRCm39) missense probably damaging 1.00
R0463:Itk UTSW 11 46,222,816 (GRCm39) missense probably damaging 1.00
R0518:Itk UTSW 11 46,251,115 (GRCm39) missense probably damaging 0.98
R0521:Itk UTSW 11 46,251,115 (GRCm39) missense probably damaging 0.98
R1121:Itk UTSW 11 46,222,721 (GRCm39) missense possibly damaging 0.93
R1550:Itk UTSW 11 46,280,153 (GRCm39) missense probably damaging 1.00
R1762:Itk UTSW 11 46,227,309 (GRCm39) missense probably damaging 0.98
R2418:Itk UTSW 11 46,229,044 (GRCm39) missense probably damaging 1.00
R2419:Itk UTSW 11 46,229,044 (GRCm39) missense probably damaging 1.00
R2859:Itk UTSW 11 46,235,662 (GRCm39) intron probably benign
R3107:Itk UTSW 11 46,218,291 (GRCm39) missense probably benign 0.15
R3546:Itk UTSW 11 46,246,675 (GRCm39) missense probably benign 0.00
R4601:Itk UTSW 11 46,227,342 (GRCm39) missense probably benign 0.17
R4610:Itk UTSW 11 46,227,342 (GRCm39) missense probably benign 0.17
R4792:Itk UTSW 11 46,235,658 (GRCm39) intron probably benign
R4885:Itk UTSW 11 46,227,171 (GRCm39) splice site probably null
R4934:Itk UTSW 11 46,280,152 (GRCm39) missense probably damaging 1.00
R5286:Itk UTSW 11 46,228,926 (GRCm39) splice site probably null
R5328:Itk UTSW 11 46,222,703 (GRCm39) missense probably benign 0.04
R5399:Itk UTSW 11 46,228,938 (GRCm39) missense probably benign 0.44
R5958:Itk UTSW 11 46,235,682 (GRCm39) intron probably benign
R6235:Itk UTSW 11 46,227,255 (GRCm39) missense probably benign 0.16
R6828:Itk UTSW 11 46,232,045 (GRCm39) missense probably damaging 1.00
R6849:Itk UTSW 11 46,222,762 (GRCm39) missense probably damaging 1.00
R7356:Itk UTSW 11 46,258,659 (GRCm39) missense possibly damaging 0.72
R7753:Itk UTSW 11 46,222,722 (GRCm39) missense probably damaging 1.00
R7932:Itk UTSW 11 46,231,519 (GRCm39) missense probably benign
R7988:Itk UTSW 11 46,246,661 (GRCm39) missense probably damaging 0.99
R8188:Itk UTSW 11 46,222,776 (GRCm39) nonsense probably null
R8337:Itk UTSW 11 46,233,222 (GRCm39) splice site probably null
R8738:Itk UTSW 11 46,231,539 (GRCm39) missense probably damaging 1.00
R8993:Itk UTSW 11 46,225,735 (GRCm39) missense probably damaging 1.00
R9028:Itk UTSW 11 46,235,710 (GRCm39) intron probably benign
R9650:Itk UTSW 11 46,222,778 (GRCm39) missense probably damaging 1.00
U24488:Itk UTSW 11 46,228,971 (GRCm39) missense probably damaging 1.00
X0062:Itk UTSW 11 46,256,871 (GRCm39) missense probably benign 0.15
Z1088:Itk UTSW 11 46,244,689 (GRCm39) splice site probably null
Posted On 2016-08-02