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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |