Incidental Mutation 'R0463:Itk'
ID 41504
Institutional Source Beutler Lab
Gene Symbol Itk
Ensembl Gene ENSMUSG00000020395
Gene Name IL2 inducible T cell kinase
Synonyms Tcsk, Tsk, Emt
MMRRC Submission 038663-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R0463 (G1)
Quality Score 189
Status Not validated
Chromosome 11
Chromosomal Location 46215977-46280342 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46222816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 551 (V551E)
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: V545E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020664
Gene: ENSMUSG00000020395
AA Change: V545E

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: V551E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104860
Gene: ENSMUSG00000020395
AA Change: V551E

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
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.5%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,884,926 (GRCm39) probably benign Het
Abcd2 C T 15: 91,043,327 (GRCm39) M620I probably benign Het
Ada T A 2: 163,572,271 (GRCm39) I243F probably benign Het
Adam12 T C 7: 133,576,145 (GRCm39) probably null Het
Adarb2 A T 13: 8,253,224 (GRCm39) probably benign Het
Adk A C 14: 21,473,604 (GRCm39) Q287P probably benign Het
Ahnak A G 19: 8,986,771 (GRCm39) probably benign Het
Aoc3 C T 11: 101,222,432 (GRCm39) R223W probably damaging Het
Aqp11 T C 7: 97,378,228 (GRCm39) D229G probably benign Het
Arhgap28 A G 17: 68,203,220 (GRCm39) S78P probably damaging Het
Bfsp2 T A 9: 103,303,854 (GRCm39) E383D possibly damaging Het
Bmpr1b A T 3: 141,563,191 (GRCm39) V251D possibly damaging Het
Calhm1 C T 19: 47,132,280 (GRCm39) V112I probably benign Het
Catsperd A G 17: 56,966,554 (GRCm39) D508G probably damaging Het
Cfap54 A G 10: 92,710,805 (GRCm39) probably null Het
Cfap70 A T 14: 20,498,631 (GRCm39) Y19N probably damaging Het
Chga A T 12: 102,529,210 (GRCm39) R396* probably null Het
Cntnap3 T C 13: 64,926,690 (GRCm39) E560G probably damaging Het
Csmd1 T C 8: 15,971,759 (GRCm39) T3024A probably damaging Het
Csrnp1 CCCTCCTCCTCCTCCTCCTC CCCTCCTCCTCCTCCTC 9: 119,801,841 (GRCm39) probably benign Het
Cysltr1 A G X: 105,622,261 (GRCm39) V75A possibly damaging Het
Dnaaf11 T A 15: 66,252,323 (GRCm39) M448L probably benign Het
Dnah2 A T 11: 69,313,952 (GRCm39) M4140K probably damaging Het
Dph5 A G 3: 115,722,352 (GRCm39) S277G probably benign Het
Eftud2 A T 11: 102,755,597 (GRCm39) D203E probably damaging Het
Egf A G 3: 129,499,882 (GRCm39) Y252H probably benign Het
Egf A G 3: 129,531,198 (GRCm39) S126P probably damaging Het
Faf1 C T 4: 109,748,138 (GRCm39) A481V probably benign Het
Fat2 A T 11: 55,153,655 (GRCm39) V3519D probably damaging Het
Fbln7 C A 2: 128,719,431 (GRCm39) A76E probably benign Het
Galnt1 A T 18: 24,387,582 (GRCm39) K49N probably benign Het
Glb1 ACCC ACC 9: 114,250,812 (GRCm39) probably null Het
Grk1 T C 8: 13,459,279 (GRCm39) Y277H probably damaging Het
Hap1 A G 11: 100,240,131 (GRCm39) L555P probably damaging Het
Ier3 T C 17: 36,133,000 (GRCm39) I94T possibly damaging Het
Il11 T C 7: 4,779,023 (GRCm39) T36A probably damaging Het
Il5ra A T 6: 106,708,851 (GRCm39) D296E probably damaging Het
Kcna2 T A 3: 107,012,476 (GRCm39) D352E probably benign Het
Kif5a A T 10: 127,071,521 (GRCm39) S776T probably benign Het
Klrb1c T C 6: 128,757,366 (GRCm39) E233G probably benign Het
Kpna7 T C 5: 144,944,804 (GRCm39) K12R possibly damaging Het
Lhpp C T 7: 132,212,406 (GRCm39) probably benign Het
Lhx8 A T 3: 154,033,808 (GRCm39) probably null Het
Magel2 T A 7: 62,027,778 (GRCm39) H227Q possibly damaging Het
Man1a A G 10: 53,950,594 (GRCm39) V176A probably damaging Het
Mapkbp1 T A 2: 119,853,632 (GRCm39) M1152K probably benign Het
Mcoln3 T A 3: 145,846,331 (GRCm39) L547* probably null Het
Myof T C 19: 37,904,952 (GRCm39) D1624G probably damaging Het
Myom2 T C 8: 15,154,123 (GRCm39) V687A probably benign Het
Nav1 C A 1: 135,379,945 (GRCm39) V1586F possibly damaging Het
Ndufb8 T C 19: 44,538,784 (GRCm39) E179G possibly damaging Het
Nfam1 T C 15: 82,885,684 (GRCm39) T223A probably damaging Het
Nrcam T A 12: 44,598,124 (GRCm39) V371E probably damaging Het
Nup210l A G 3: 90,087,518 (GRCm39) Q1097R probably null Het
Obox5 T A 7: 15,491,571 (GRCm39) M37K probably damaging Het
Obscn A T 11: 58,952,356 (GRCm39) N4270K probably benign Het
Or4d2 G A 11: 87,784,022 (GRCm39) H243Y probably damaging Het
Or5ak25 T A 2: 85,268,630 (GRCm39) S291C probably damaging Het
Or6c1 A G 10: 129,517,708 (GRCm39) M300T probably benign Het
Or8c15 G A 9: 38,120,360 (GRCm39) A2T probably benign Het
Or8k16 T C 2: 85,520,183 (GRCm39) S137P possibly damaging Het
Patj G A 4: 98,562,545 (GRCm39) E1505K probably damaging Het
Pnliprp1 T A 19: 58,726,628 (GRCm39) Y328* probably null Het
Ppp1r36 G A 12: 76,465,741 (GRCm39) E43K probably damaging Het
Ptch1 C T 13: 63,668,121 (GRCm39) V939I probably damaging Het
Rgs22 C A 15: 36,093,084 (GRCm39) K396N probably damaging Het
Rsrc1 A T 3: 67,088,194 (GRCm39) H176L probably damaging Het
Ryr3 A T 2: 112,492,046 (GRCm39) F3743L probably damaging Het
Scn7a C T 2: 66,506,084 (GRCm39) G1602R probably benign Het
Sftpc A T 14: 70,760,110 (GRCm39) V49E probably damaging Het
Slc16a10 A G 10: 39,916,612 (GRCm39) V430A probably benign Het
Slco4c1 A C 1: 96,795,645 (GRCm39) S138A possibly damaging Het
Snd1 T C 6: 28,724,955 (GRCm39) I501T probably benign Het
Stxbp2 T A 8: 3,682,559 (GRCm39) D49E probably damaging Het
Sytl4 A T X: 132,862,936 (GRCm39) D16E probably benign Het
Tbc1d9b G A 11: 50,035,894 (GRCm39) G130E probably benign Het
Tdrd6 T A 17: 43,936,452 (GRCm39) D1532V probably damaging Het
Tekt1 T C 11: 72,242,778 (GRCm39) D243G probably damaging Het
Tet2 A G 3: 133,192,427 (GRCm39) L669S possibly damaging Het
Tnnt3 A G 7: 142,066,072 (GRCm39) N201S probably benign Het
Trdn A G 10: 33,342,417 (GRCm39) probably null Het
Trim36 T C 18: 46,311,523 (GRCm39) E259G possibly damaging Het
Trpm1 C T 7: 63,870,002 (GRCm39) P436S probably benign Het
Vmn1r183 T A 7: 23,754,926 (GRCm39) L243Q probably damaging Het
Vps13b T C 15: 35,597,555 (GRCm39) S1032P probably damaging Het
Vps37d T C 5: 135,105,395 (GRCm39) E76G probably damaging Het
Vps72 A G 3: 95,028,615 (GRCm39) H202R probably benign Het
Wdr75 T C 1: 45,858,762 (GRCm39) S644P probably damaging Het
Wrn T A 8: 33,770,843 (GRCm39) E697V possibly damaging Het
Xirp2 A G 2: 67,345,262 (GRCm39) D2501G probably benign Het
Zfp472 T C 17: 33,194,936 (GRCm39) W24R probably damaging Het
Zmym6 T C 4: 127,016,565 (GRCm39) V782A 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
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
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
Predicted Primers PCR Primer
(F):5'- TGGGACCTTCCTTGTGTACTGACC -3'
(R):5'- CCTCTCAATGAACGGCAGAAGTGG -3'

Sequencing Primer
(F):5'- GTACTGACCTCTTTCCAGCAATG -3'
(R):5'- cacacacacacacacacac -3'
Posted On 2013-05-23