Incidental Mutation 'R4885:Itk'
ID 375649
Institutional Source Beutler Lab
Gene Symbol Itk
Ensembl Gene ENSMUSG00000020395
Gene Name IL2 inducible T cell kinase
Synonyms Tcsk, Tsk, Emt
MMRRC Submission 042851-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R4885 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 46215977-46280342 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 46227171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000020664
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
SH2 237 328 9.44e-29 SMART
TyrKc 362 611 3.28e-133 SMART
Predicted Effect probably null
Transcript: ENSMUST00000109237
SMART Domains Protein: ENSMUSP00000104860
Gene: ENSMUSG00000020395

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 99% (77/78)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 A G 16: 20,370,425 (GRCm39) T317A probably benign Het
Adck1 G A 12: 88,407,865 (GRCm39) A199T probably benign Het
Adgrb1 A T 15: 74,444,011 (GRCm39) M1038L probably benign Het
Anapc10 C T 8: 80,455,779 (GRCm39) T76I probably benign Het
Atosa T C 9: 74,913,649 (GRCm39) L94P probably damaging Het
Bptf C T 11: 106,965,474 (GRCm39) S1177N probably benign Het
Bsn A T 9: 107,984,726 (GRCm39) Y337* probably null Het
Ccl20 T A 1: 83,095,580 (GRCm39) V48E possibly damaging Het
Ccnl1 C T 3: 65,864,320 (GRCm39) D122N probably damaging Het
Chat C G 14: 32,176,567 (GRCm39) G69A probably damaging Het
Cr2 T A 1: 194,841,039 (GRCm39) I418F possibly damaging Het
Dmxl1 G C 18: 50,011,862 (GRCm39) A1340P probably damaging Het
Eef2k G A 7: 120,491,155 (GRCm39) R547Q probably benign Het
Eml2 G A 7: 18,937,935 (GRCm39) S793N probably benign Het
Enox1 T A 14: 77,958,290 (GRCm39) L632Q probably damaging Het
Fabp9 T C 3: 10,259,738 (GRCm39) K92E probably damaging Het
Fam234a T C 17: 26,432,559 (GRCm39) H530R probably benign Het
Fancm C T 12: 65,149,417 (GRCm39) Q728* probably null Het
Fgd3 G A 13: 49,417,465 (GRCm39) T666M possibly damaging Het
Foxs1 T C 2: 152,774,301 (GRCm39) M251V probably benign Het
Fsip2 A T 2: 82,818,438 (GRCm39) M4724L probably benign Het
Gemin6 G A 17: 80,535,327 (GRCm39) E96K probably damaging Het
Gfi1 C A 5: 107,871,152 (GRCm39) V80F probably damaging Het
H3c13 G T 3: 96,176,277 (GRCm39) V90F possibly damaging Het
Hectd1 A G 12: 51,847,505 (GRCm39) V442A probably damaging Het
Ift80 A G 3: 68,857,829 (GRCm39) I272T probably damaging Het
Impact C G 18: 13,119,430 (GRCm39) A214G probably damaging Het
Insl6 C T 19: 29,302,556 (GRCm39) E54K probably benign Het
Irak3 T A 10: 120,018,586 (GRCm39) D54V probably damaging Het
Ivl A T 3: 92,479,718 (GRCm39) C116S probably benign Het
Kcnq4 G A 4: 120,570,260 (GRCm39) A361V probably benign Het
L1td1 C T 4: 98,625,548 (GRCm39) P581L probably benign Het
Lrp1b T C 2: 41,358,905 (GRCm39) E656G probably benign Het
Macrod2 A G 2: 140,261,985 (GRCm39) T89A possibly damaging Het
Mettl13 T C 1: 162,364,837 (GRCm39) D514G probably damaging Het
Mfsd13b A T 7: 120,590,711 (GRCm39) I151F possibly damaging Het
Mical3 G A 6: 120,912,214 (GRCm39) P1882S probably damaging Het
Mycbp2 T C 14: 103,383,382 (GRCm39) E394G possibly damaging Het
Myo16 T A 8: 10,488,892 (GRCm39) S688T probably damaging Het
Neb T C 2: 52,176,058 (GRCm39) Y1467C probably damaging Het
Nhsl3 C T 4: 129,118,238 (GRCm39) R214Q probably damaging Het
Nkx6-3 C A 8: 23,643,914 (GRCm39) P105Q possibly damaging Het
Nlrp1b T C 11: 71,108,710 (GRCm39) T264A possibly damaging Het
Nnat G A 2: 157,403,678 (GRCm39) C122Y probably damaging Het
Notch3 G A 17: 32,360,351 (GRCm39) R1527C probably damaging Het
Or2y16 C T 11: 49,335,449 (GRCm39) T257I probably damaging Het
Or5an1c T G 19: 12,218,082 (GRCm39) probably null Het
Or5h18 A G 16: 58,847,518 (GRCm39) Y251H probably damaging Het
Pds5b C T 5: 150,639,927 (GRCm39) T14I probably benign Het
Phf19 A T 2: 34,789,718 (GRCm39) I334N probably damaging Het
Pik3ap1 T C 19: 41,364,365 (GRCm39) D118G probably benign Het
Pkhd1 T A 1: 20,140,712 (GRCm39) E3886V possibly damaging Het
Pkp1 A G 1: 135,846,690 (GRCm39) S21P possibly damaging Het
Pramel32 T A 4: 88,546,219 (GRCm39) L374F possibly damaging Het
Rack1 C A 11: 48,696,463 (GRCm39) A290E probably damaging Het
Rbm15 A G 3: 107,239,570 (GRCm39) V276A probably benign Het
Rnf216 A T 5: 143,076,335 (GRCm39) L183* probably null Het
Sc5d T C 9: 42,166,922 (GRCm39) I206V probably benign Het
Scpep1 A G 11: 88,826,737 (GRCm39) I233T probably benign Het
Sh3pxd2a A G 19: 47,257,132 (GRCm39) Y529H probably damaging Het
Slc1a4 A C 11: 20,254,384 (GRCm39) V494G probably damaging Het
Slc38a7 T C 8: 96,575,230 (GRCm39) T17A probably benign Het
Smg6 T C 11: 74,932,744 (GRCm39) S73P probably damaging Het
Stk32b T C 5: 37,624,141 (GRCm39) Y202C probably damaging Het
Tas2r140 A G 6: 40,468,334 (GRCm39) S55G probably damaging Het
Tcf12 C T 9: 71,766,122 (GRCm39) G504S probably null Het
Ttc3 G C 16: 94,227,690 (GRCm39) probably null Het
Ttc3 T C 16: 94,220,324 (GRCm39) I568T probably damaging Het
Ttc41 T G 10: 86,594,966 (GRCm39) N913K possibly damaging Het
Vrk1 G A 12: 106,024,231 (GRCm39) V236M probably damaging Het
Wscd1 C T 11: 71,650,972 (GRCm39) R100C probably damaging Het
Zc3h18 C T 8: 123,128,445 (GRCm39) probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TCCAATCTGAGCACTCTTGAAAC -3'
(R):5'- AACTGGTGCAGCTCTATGGG -3'

Sequencing Primer
(F):5'- ATCTGAGCACTCTTGAAACACTTC -3'
(R):5'- CAGCTCTATGGGGTGTGCC -3'
Posted On 2016-03-17