Incidental Mutation 'IGL03290:Itk'
| ID |
415853 |
| 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)
|
| Stock # |
IGL03290
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
46215977-46280342 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 46225764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 529
(W529L)
|
| 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: W523L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020664
Gene: ENSMUSG00000020395
AA Change: W523L
| 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: W529L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104860
Gene: ENSMUSG00000020395
AA Change: W529L
| 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 |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
A |
G |
7: 119,302,646 (GRCm39) |
|
probably benign |
Het |
| Asb18 |
A |
G |
1: 89,942,296 (GRCm39) |
S2P |
probably damaging |
Het |
| Atp2b2 |
A |
G |
6: 113,770,715 (GRCm39) |
F398S |
probably damaging |
Het |
| BC034090 |
T |
G |
1: 155,101,856 (GRCm39) |
D136A |
probably damaging |
Het |
| Ces5a |
A |
C |
8: 94,246,260 (GRCm39) |
F310V |
probably damaging |
Het |
| Chsy1 |
T |
C |
7: 65,820,779 (GRCm39) |
V338A |
probably benign |
Het |
| Dbh |
A |
G |
2: 27,064,944 (GRCm39) |
E385G |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,591,543 (GRCm39) |
|
probably benign |
Het |
| F2rl1 |
A |
G |
13: 95,650,097 (GRCm39) |
S262P |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,147,045 (GRCm39) |
N3984D |
probably benign |
Het |
| Fbxo38 |
A |
T |
18: 62,659,234 (GRCm39) |
H354Q |
probably benign |
Het |
| Fgf6 |
T |
A |
6: 127,001,095 (GRCm39) |
V201D |
probably damaging |
Het |
| Gm16181 |
A |
T |
17: 35,442,933 (GRCm39) |
|
probably benign |
Het |
| Gm6811 |
T |
C |
17: 21,314,311 (GRCm39) |
|
noncoding transcript |
Het |
| Gna11 |
A |
G |
10: 81,366,771 (GRCm39) |
F313S |
probably damaging |
Het |
| Gprc6a |
C |
T |
10: 51,491,968 (GRCm39) |
A523T |
probably damaging |
Het |
| Il22 |
T |
C |
10: 118,041,785 (GRCm39) |
|
probably null |
Het |
| Insr |
T |
C |
8: 3,308,574 (GRCm39) |
Y154C |
probably damaging |
Het |
| Irak4 |
T |
A |
15: 94,449,780 (GRCm39) |
D86E |
probably benign |
Het |
| Klhl6 |
C |
A |
16: 19,765,887 (GRCm39) |
A572S |
probably benign |
Het |
| Ldhc |
C |
T |
7: 46,519,112 (GRCm39) |
R112C |
probably damaging |
Het |
| Lrrc56 |
T |
C |
7: 140,779,685 (GRCm39) |
|
probably benign |
Het |
| Mdh2 |
A |
G |
5: 135,818,567 (GRCm39) |
E274G |
probably damaging |
Het |
| N4bp1 |
G |
T |
8: 87,575,161 (GRCm39) |
D711E |
probably benign |
Het |
| Ngly1 |
T |
A |
14: 16,281,866 (GRCm38) |
I248K |
probably damaging |
Het |
| Or2ab1 |
A |
G |
11: 58,489,149 (GRCm39) |
N309S |
probably damaging |
Het |
| Or7e176 |
T |
C |
9: 20,171,556 (GRCm39) |
I140T |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,829,241 (GRCm39) |
E1421G |
probably damaging |
Het |
| Pcca |
G |
A |
14: 122,822,518 (GRCm39) |
R112H |
possibly damaging |
Het |
| Pgrmc2 |
T |
C |
3: 41,023,061 (GRCm39) |
|
probably benign |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Pogz |
A |
T |
3: 94,782,402 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3a |
A |
G |
6: 14,754,771 (GRCm39) |
Y159H |
probably damaging |
Het |
| Rax |
T |
C |
18: 66,071,231 (GRCm39) |
K135E |
probably damaging |
Het |
| Rbm7 |
T |
A |
9: 48,401,267 (GRCm39) |
M154L |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,420,264 (GRCm39) |
S283P |
probably damaging |
Het |
| Rpusd4 |
T |
C |
9: 35,179,273 (GRCm39) |
S30P |
probably benign |
Het |
| Samd13 |
T |
C |
3: 146,352,070 (GRCm39) |
T75A |
probably benign |
Het |
| Sfxn4 |
A |
G |
19: 60,848,508 (GRCm39) |
W22R |
probably damaging |
Het |
| Sh3pxd2a |
T |
A |
19: 47,412,955 (GRCm39) |
R43W |
probably damaging |
Het |
| Smc5 |
A |
G |
19: 23,251,022 (GRCm39) |
V54A |
probably benign |
Het |
| Snap47 |
A |
G |
11: 59,319,424 (GRCm39) |
I238T |
probably damaging |
Het |
| Tecpr2 |
T |
G |
12: 110,934,267 (GRCm39) |
I1309S |
possibly damaging |
Het |
| Trappc8 |
A |
G |
18: 20,953,992 (GRCm39) |
L1310P |
probably damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,915,408 (GRCm39) |
H118Q |
probably benign |
Het |
| Zbtb17 |
C |
T |
4: 141,194,244 (GRCm39) |
T731I |
probably damaging |
Het |
| Zfp287 |
A |
G |
11: 62,606,062 (GRCm39) |
F282L |
probably 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 |
|
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 |
|
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 |
Incidental Mutation