Incidental Mutation 'R9650:Itk'
| ID |
727047 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itk
|
| Ensembl Gene |
ENSMUSG00000020395 |
| Gene Name |
IL2 inducible T cell kinase |
| Synonyms |
Tcsk, Tsk, Emt |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R9650 (G1)
|
| 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 T
at 46222778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 564
(Y564N)
|
| 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: Y558N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020664
Gene: ENSMUSG00000020395
AA Change: Y558N
| 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: Y564N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104860
Gene: ENSMUSG00000020395
AA Change: Y564N
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,071,446 (GRCm39) |
N1469Y |
probably benign |
Het |
| Actl10 |
T |
A |
2: 154,394,682 (GRCm39) |
N211K |
probably benign |
Het |
| Adam33 |
C |
T |
2: 130,894,989 (GRCm39) |
V690M |
possibly damaging |
Het |
| Agap2 |
G |
A |
10: 126,927,653 (GRCm39) |
R1178H |
unknown |
Het |
| Ank2 |
T |
A |
3: 126,735,829 (GRCm39) |
T3352S |
unknown |
Het |
| BC005537 |
T |
A |
13: 24,986,122 (GRCm39) |
D7E |
unknown |
Het |
| Bptf |
T |
C |
11: 106,935,412 (GRCm39) |
M142V |
probably benign |
Het |
| Cox15 |
A |
G |
19: 43,735,318 (GRCm39) |
Y150H |
probably benign |
Het |
| Cpq |
A |
T |
15: 33,497,405 (GRCm39) |
I382F |
possibly damaging |
Het |
| Cps1 |
T |
C |
1: 67,254,636 (GRCm39) |
F1275S |
|
Het |
| Cs |
T |
A |
10: 128,196,856 (GRCm39) |
M417K |
probably benign |
Het |
| Cyp2b19 |
G |
A |
7: 26,466,208 (GRCm39) |
R337Q |
possibly damaging |
Het |
| Dmgdh |
A |
T |
13: 93,845,333 (GRCm39) |
Y442F |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,174,849 (GRCm39) |
D131E |
possibly damaging |
Het |
| Epb41l2 |
A |
G |
10: 25,369,495 (GRCm39) |
I605V |
probably benign |
Het |
| Evc |
G |
A |
5: 37,458,162 (GRCm39) |
P963L |
probably damaging |
Het |
| Evl |
C |
A |
12: 108,641,698 (GRCm39) |
T160N |
probably benign |
Het |
| Fam76a |
T |
C |
4: 132,629,387 (GRCm39) |
Y255C |
probably damaging |
Het |
| Fras1 |
G |
T |
5: 96,910,387 (GRCm39) |
R3272L |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,369,375 (GRCm39) |
V2283A |
probably damaging |
Het |
| Fzd6 |
A |
G |
15: 38,894,941 (GRCm39) |
Y369C |
probably damaging |
Het |
| Hip1r |
T |
C |
5: 124,135,357 (GRCm39) |
|
probably null |
Het |
| Hps5 |
A |
G |
7: 46,425,354 (GRCm39) |
S449P |
probably damaging |
Het |
| Ighv1-34 |
G |
T |
12: 114,814,885 (GRCm39) |
D92E |
possibly damaging |
Het |
| Iigp1c |
T |
G |
18: 60,379,470 (GRCm39) |
V335G |
probably damaging |
Het |
| Ino80 |
C |
T |
2: 119,277,464 (GRCm39) |
R337Q |
probably damaging |
Het |
| Itgax |
T |
C |
7: 127,734,935 (GRCm39) |
I422T |
probably benign |
Het |
| Kcnh5 |
A |
C |
12: 75,023,293 (GRCm39) |
S592A |
probably benign |
Het |
| Klhl40 |
T |
A |
9: 121,609,083 (GRCm39) |
V416E |
possibly damaging |
Het |
| Lhfpl4 |
T |
C |
6: 113,171,147 (GRCm39) |
E13G |
probably benign |
Het |
| Mid1 |
C |
G |
X: 168,768,003 (GRCm39) |
P384A |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,553,762 (GRCm39) |
M4177K |
unknown |
Het |
| Ngef |
T |
A |
1: 87,415,552 (GRCm39) |
T371S |
possibly damaging |
Het |
| Nutm2 |
A |
T |
13: 50,623,755 (GRCm39) |
T151S |
probably benign |
Het |
| Or4c109 |
A |
T |
2: 88,818,006 (GRCm39) |
L180* |
probably null |
Het |
| Or51f2 |
T |
C |
7: 102,526,987 (GRCm39) |
I220T |
probably damaging |
Het |
| Pate13 |
A |
C |
9: 35,820,799 (GRCm39) |
M84L |
probably benign |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,519 (GRCm39) |
I525K |
probably benign |
Het |
| Pcx |
C |
T |
19: 4,657,714 (GRCm39) |
R394C |
probably damaging |
Het |
| Pnmt |
A |
T |
11: 98,278,262 (GRCm39) |
D112V |
probably damaging |
Het |
| Rnf115 |
C |
T |
3: 96,665,337 (GRCm39) |
T69I |
probably damaging |
Het |
| Rrp7a |
A |
T |
15: 83,004,091 (GRCm39) |
|
probably null |
Het |
| Senp1 |
A |
T |
15: 97,946,248 (GRCm39) |
M499K |
probably damaging |
Het |
| Serpina3f |
G |
A |
12: 104,186,519 (GRCm39) |
A362T |
possibly damaging |
Het |
| Slc29a3 |
T |
A |
10: 60,586,302 (GRCm39) |
I55F |
possibly damaging |
Het |
| Stab2 |
ACC |
AC |
10: 86,692,561 (GRCm39) |
|
probably null |
Het |
| Tln1 |
G |
A |
4: 43,545,912 (GRCm39) |
T901I |
probably damaging |
Het |
| Tmem102 |
T |
C |
11: 69,695,869 (GRCm39) |
K64R |
probably benign |
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,930,629 (GRCm39) |
V2105I |
probably damaging |
Het |
| Traf2 |
A |
C |
2: 25,410,454 (GRCm39) |
C391W |
probably damaging |
Het |
| Tubgcp3 |
A |
G |
8: 12,705,974 (GRCm39) |
S183P |
probably benign |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Usp2 |
C |
A |
9: 44,000,476 (GRCm39) |
N288K |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,613,929 (GRCm39) |
T381A |
probably benign |
Het |
| Vil1 |
C |
T |
1: 74,464,775 (GRCm39) |
P474L |
probably benign |
Het |
| Wasf2 |
T |
A |
4: 132,917,457 (GRCm39) |
N185K |
unknown |
Het |
| Zfp865 |
A |
G |
7: 5,037,683 (GRCm39) |
M45V |
unknown |
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 |
|
|
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'- AAACACGGACAAAGTCTGGC -3'
(R):5'- TACTTCAAGAGGTCTAGAGGGG -3'
Sequencing Primer
(F):5'- GACAAAGTCTGGCCTGTTTATTACG -3'
(R):5'- GGGGTGGACTTAATACTCACTAC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation