Incidental Mutation 'U24488:Itk'
ID 509882
Institutional Source Beutler Lab
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 # U24488 (G0')
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 46215977-46280342 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 46228971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 403 (M403R)
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 damaging
Transcript: ENSMUST00000020664
AA Change: M397R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020664
Gene: ENSMUSG00000020395
AA Change: M397R

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 damaging
Transcript: ENSMUST00000109237
AA Change: M403R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104860
Gene: ENSMUSG00000020395
AA Change: M403R

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
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.0%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 A G 11: 5,580,772 (GRCm39) Y922C probably damaging Het
Arhgef40 A G 14: 52,235,673 (GRCm39) T1185A probably benign Het
Atf7ip2 A G 16: 10,022,537 (GRCm39) N72S probably damaging Het
Carmil3 A G 14: 55,734,636 (GRCm39) D455G probably benign Het
Ccdc171 A T 4: 83,579,954 (GRCm39) E567V probably damaging Het
Chmp1b T A 18: 67,338,945 (GRCm39) L125Q probably damaging Het
Cnr1 T A 4: 33,944,927 (GRCm39) N438K probably benign Het
Cplane1 G T 15: 8,211,694 (GRCm39) G345C probably damaging Het
Csmd3 G A 15: 47,573,795 (GRCm39) T2091M probably damaging Het
Cyp4a29 A T 4: 115,108,204 (GRCm39) H342L possibly damaging Het
Dnah10 G A 5: 124,891,044 (GRCm39) D3212N probably damaging Het
Dnah2 G A 11: 69,374,648 (GRCm39) T1447I probably damaging Het
F11 A G 8: 45,695,349 (GRCm39) S540P probably benign Het
Fcrl6 T A 1: 172,426,437 (GRCm39) H120L probably damaging Het
Frmd6 T C 12: 70,940,653 (GRCm39) S433P probably damaging Het
Fundc1 G T X: 17,434,342 (GRCm39) A64E probably damaging Het
Garin2 A T 12: 78,761,811 (GRCm39) K158N probably damaging Het
Grid1 A G 14: 35,302,534 (GRCm39) E933G probably benign Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Hoxb3 C A 11: 96,235,456 (GRCm39) Q128K probably benign Het
Il6st C T 13: 112,631,168 (GRCm39) T369M possibly damaging Het
Katnip A T 7: 125,369,853 (GRCm39) D147V probably damaging Het
Kif2c T C 4: 117,039,639 (GRCm39) Q17R probably benign Het
Kifap3 T C 1: 163,610,604 (GRCm39) I28T possibly damaging Het
Kit A T 5: 75,783,674 (GRCm39) R384* probably null Het
Ksr1 T A 11: 78,938,267 (GRCm39) I42F probably damaging Het
Lhcgr T A 17: 89,079,513 (GRCm39) probably null Het
Lrrc36 C T 8: 106,176,384 (GRCm39) H253Y probably benign Het
Mad1l1 T A 5: 140,300,840 (GRCm39) N19Y probably damaging Het
Marf1 A T 16: 13,950,230 (GRCm39) L1022* probably null Het
Mical3 T G 6: 120,978,457 (GRCm39) Q225P possibly damaging Het
Minar1 C A 9: 89,485,100 (GRCm39) G99V probably damaging Het
Myt1l T A 12: 29,876,895 (GRCm39) M182K unknown Het
Nepro A G 16: 44,554,949 (GRCm39) T342A probably benign Het
Nlrp5 A T 7: 23,117,653 (GRCm39) D459V possibly damaging Het
Nrcam C T 12: 44,584,042 (GRCm39) P39S probably damaging Het
Or2ag1b A T 7: 106,288,296 (GRCm39) I214N probably damaging Het
Ostm1 A G 10: 42,555,227 (GRCm39) D83G possibly damaging Het
Otoa A T 7: 120,717,763 (GRCm39) probably null Het
Pi4ka A G 16: 17,143,040 (GRCm39) I824T probably damaging Het
Plec C T 15: 76,061,930 (GRCm39) R2534H probably benign Het
Plin2 A G 4: 86,580,314 (GRCm39) V60A probably damaging Het
Rps6ka4 A G 19: 6,809,724 (GRCm39) L367P probably damaging Het
Senp7 A G 16: 56,005,182 (GRCm39) N912D probably damaging Het
Slc25a21 G T 12: 56,785,282 (GRCm39) N198K possibly damaging Het
Slc4a10 A G 2: 61,877,002 (GRCm39) D5G probably benign Het
Tex16 T C X: 111,028,815 (GRCm39) V438A probably benign Het
Tmem37 T C 1: 119,995,684 (GRCm39) Y131C probably benign Het
Top2a A C 11: 98,913,252 (GRCm39) M60R probably damaging Het
Ush2a C T 1: 188,162,963 (GRCm39) T1015I probably damaging Het
Vmn1r172 A T 7: 23,359,171 (GRCm39) I19F probably benign Het
Vmn1r230 A C 17: 21,067,014 (GRCm39) I68L probably benign Het
Vmn2r45 A C 7: 8,475,361 (GRCm39) C556G probably damaging Het
Vmn2r54 A G 7: 12,349,356 (GRCm39) I742T possibly damaging Het
Vps13c A G 9: 67,813,198 (GRCm39) K960E probably benign Het
Wdcp T A 12: 4,900,405 (GRCm39) V87E probably damaging Het
Wiz C T 17: 32,606,649 (GRCm39) E29K probably damaging Het
Wnk3 C T X: 149,992,456 (GRCm39) T298I probably damaging Het
Yif1b A C 7: 28,943,594 (GRCm39) Q56P probably benign Het
Zbtb25 A G 12: 76,396,014 (GRCm39) W403R probably benign Het
Zcrb1 A T 15: 93,285,515 (GRCm39) S155R probably damaging Het
Zmym4 A T 4: 126,819,453 (GRCm39) I150K possibly 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
IGL03385:Itk APN 11 46,222,688 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- ATCTCCTAGGCCCTAACAAGG -3'
(R):5'- TACCTATGACACTCTAAGCCATCTTTG -3'

Sequencing Primer
(F):5'- CCCTAACAAGGCTCTTTTTGTG -3'
(R):5'- ACGTTCGTGCAGGAGAT -3'
Posted On 2018-04-02