Incidental Mutation 'R8993:Itk'
| ID |
684558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itk
|
| Ensembl Gene |
ENSMUSG00000020395 |
| Gene Name |
IL2 inducible T cell kinase |
| Synonyms |
Emt, Tsk, Tcsk |
| MMRRC Submission |
068824-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R8993 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
46325150-46389515 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 46334908 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 539
(R539C)
|
| 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: R533C
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020664
Gene: ENSMUSG00000020395
AA Change: R533C
| 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: R539C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104860
Gene: ENSMUSG00000020395
AA Change: R539C
| 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 |
|
| Meta Mutation Damage Score |
0.4989 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (56/56) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
A |
T |
5: 113,703,781 (GRCm38) |
C92* |
probably null |
Het |
| A830018L16Rik |
G |
T |
1: 11,545,267 (GRCm38) |
E155* |
probably null |
Het |
| Acaa1a |
A |
T |
9: 119,349,352 (GRCm38) |
|
probably null |
Het |
| Adcy4 |
T |
C |
14: 55,778,699 (GRCm38) |
D387G |
probably damaging |
Het |
| Adcy4 |
T |
C |
14: 55,771,378 (GRCm38) |
E864G |
probably null |
Het |
| Ank1 |
C |
T |
8: 23,098,939 (GRCm38) |
H574Y |
probably damaging |
Het |
| Arhgef16 |
C |
T |
4: 154,287,038 (GRCm38) |
E233K |
probably damaging |
Het |
| Arhgef26 |
A |
T |
3: 62,448,104 (GRCm38) |
Y699F |
probably benign |
Het |
| BB014433 |
C |
T |
8: 15,042,101 (GRCm38) |
V251M |
probably damaging |
Het |
| Bcan |
G |
A |
3: 87,994,222 (GRCm38) |
A391V |
probably benign |
Het |
| Bod1l |
A |
C |
5: 41,816,867 (GRCm38) |
V2368G |
probably benign |
Het |
| Braf |
A |
G |
6: 39,662,151 (GRCm38) |
V222A |
probably damaging |
Het |
| Cd33 |
G |
T |
7: 43,533,447 (GRCm38) |
|
probably benign |
Het |
| Cdkl2 |
T |
A |
5: 92,022,151 (GRCm38) |
K324N |
probably damaging |
Het |
| Celf6 |
A |
T |
9: 59,602,871 (GRCm38) |
T199S |
probably damaging |
Het |
| Cmtm4 |
A |
C |
8: 104,355,166 (GRCm38) |
D196E |
probably benign |
Het |
| Cntn1 |
G |
A |
15: 92,234,466 (GRCm38) |
V148M |
probably damaging |
Het |
| Col1a2 |
C |
A |
6: 4,535,451 (GRCm38) |
P921H |
unknown |
Het |
| Crmp1 |
T |
C |
5: 37,242,146 (GRCm38) |
M1T |
probably null |
Het |
| Dnah7a |
A |
T |
1: 53,504,103 (GRCm38) |
Y2303N |
probably damaging |
Het |
| Dock10 |
G |
T |
1: 80,574,171 (GRCm38) |
T650K |
probably benign |
Het |
| Eif1ad15 |
A |
G |
12: 88,321,400 (GRCm38) |
F28L |
probably benign |
Het |
| Fam24a |
A |
G |
7: 131,336,540 (GRCm38) |
D53G |
probably benign |
Het |
| Foxa2 |
A |
T |
2: 148,044,706 (GRCm38) |
M69K |
probably benign |
Het |
| Gatad2a |
T |
A |
8: 69,909,935 (GRCm38) |
H601L |
probably damaging |
Het |
| Gimap4 |
A |
C |
6: 48,690,605 (GRCm38) |
D98A |
probably damaging |
Het |
| Gm14295 |
G |
T |
2: 176,809,830 (GRCm38) |
R371L |
possibly damaging |
Het |
| Golim4 |
G |
T |
3: 75,878,128 (GRCm38) |
A652E |
probably benign |
Het |
| Grid1 |
A |
G |
14: 35,026,942 (GRCm38) |
I240V |
probably benign |
Het |
| Iqsec3 |
T |
A |
6: 121,413,313 (GRCm38) |
T400S |
unknown |
Het |
| Kif27 |
T |
A |
13: 58,326,098 (GRCm38) |
D695V |
possibly damaging |
Het |
| Krt79 |
T |
C |
15: 101,931,006 (GRCm38) |
|
probably benign |
Het |
| Lama2 |
C |
A |
10: 27,422,714 (GRCm38) |
V129L |
possibly damaging |
Het |
| Lonrf1 |
C |
A |
8: 36,229,238 (GRCm38) |
E552D |
possibly damaging |
Het |
| Mpp3 |
A |
G |
11: 102,000,665 (GRCm38) |
I549T |
probably benign |
Het |
| Nat1 |
T |
C |
8: 67,491,742 (GRCm38) |
Y260H |
probably benign |
Het |
| Nipal2 |
T |
A |
15: 34,648,837 (GRCm38) |
K69* |
probably null |
Het |
| Nlrx1 |
G |
T |
9: 44,256,941 (GRCm38) |
|
probably benign |
Het |
| Pde1b |
C |
A |
15: 103,521,425 (GRCm38) |
A115E |
probably benign |
Het |
| Pde4dip |
A |
G |
3: 97,766,494 (GRCm38) |
Y369H |
probably damaging |
Het |
| Pnpla7 |
A |
G |
2: 25,053,419 (GRCm38) |
Y1286C |
possibly damaging |
Het |
| Poglut2 |
G |
T |
1: 44,112,764 (GRCm38) |
L322I |
possibly damaging |
Het |
| Pramel5 |
T |
C |
4: 144,272,959 (GRCm38) |
E186G |
possibly damaging |
Het |
| Qdpr |
C |
T |
5: 45,450,044 (GRCm38) |
G20D |
probably damaging |
Het |
| Rmnd1 |
T |
G |
10: 4,407,918 (GRCm38) |
I364L |
probably benign |
Het |
| Slc5a4a |
A |
T |
10: 76,186,535 (GRCm38) |
E568V |
probably benign |
Het |
| Slc6a18 |
T |
A |
13: 73,668,271 (GRCm38) |
I330F |
probably benign |
Het |
| Spesp1 |
T |
C |
9: 62,273,270 (GRCm38) |
T119A |
possibly damaging |
Het |
| Sypl1 |
G |
A |
12: 32,975,663 (GRCm38) |
S242N |
probably benign |
Het |
| Tbx18 |
G |
A |
9: 87,730,717 (GRCm38) |
T43M |
probably benign |
Het |
| Tm7sf2 |
T |
A |
19: 6,063,926 (GRCm38) |
D263V |
probably damaging |
Het |
| Trbv21 |
T |
C |
6: 41,202,990 (GRCm38) |
I80T |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,427,808 (GRCm38) |
L747Q |
possibly damaging |
Het |
| Ttll11 |
T |
C |
2: 35,817,801 (GRCm38) |
D498G |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,753,370 (GRCm38) |
Y22431C |
probably null |
Het |
| Ubtfl1 |
T |
A |
9: 18,410,341 (GRCm38) |
S388R |
|
Het |
| Vmn2r118 |
A |
T |
17: 55,610,835 (GRCm38) |
L226I |
possibly damaging |
Het |
| Wdr46 |
A |
G |
17: 33,949,182 (GRCm38) |
H576R |
probably benign |
Het |
| Zfp426 |
A |
G |
9: 20,475,000 (GRCm38) |
F62L |
probably damaging |
Het |
|
| Other mutations in Itk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00950:Itk
|
APN |
11 |
46,367,896 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01349:Itk
|
APN |
11 |
46,341,200 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL03290:Itk
|
APN |
11 |
46,334,937 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03385:Itk
|
APN |
11 |
46,331,861 (GRCm38) |
nonsense |
probably null |
|
|
Calame
|
UTSW |
11 |
46,342,395 (GRCm38) |
splice site |
probably null |
|
|
carbone
|
UTSW |
11 |
46,331,949 (GRCm38) |
nonsense |
probably null |
|
|
demon
|
UTSW |
11 |
46,340,712 (GRCm38) |
missense |
probably damaging |
1.00 |
|
goodnow
|
UTSW |
11 |
46,338,099 (GRCm38) |
splice site |
probably null |
|
|
itxaro
|
UTSW |
11 |
46,338,217 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Segun
|
UTSW |
11 |
46,344,883 (GRCm38) |
intron |
probably benign |
|
|
BB009:Itk
|
UTSW |
11 |
46,340,692 (GRCm38) |
missense |
probably benign |
|
|
BB019:Itk
|
UTSW |
11 |
46,340,692 (GRCm38) |
missense |
probably benign |
|
|
R0095:Itk
|
UTSW |
11 |
46,342,452 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0265:Itk
|
UTSW |
11 |
46,389,458 (GRCm38) |
start gained |
probably benign |
|
|
R0281:Itk
|
UTSW |
11 |
46,353,916 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0463:Itk
|
UTSW |
11 |
46,331,989 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0518:Itk
|
UTSW |
11 |
46,360,288 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0521:Itk
|
UTSW |
11 |
46,360,288 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1121:Itk
|
UTSW |
11 |
46,331,894 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1550:Itk
|
UTSW |
11 |
46,389,326 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1762:Itk
|
UTSW |
11 |
46,336,482 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2418:Itk
|
UTSW |
11 |
46,338,217 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2419:Itk
|
UTSW |
11 |
46,338,217 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2859:Itk
|
UTSW |
11 |
46,344,835 (GRCm38) |
intron |
probably benign |
|
|
R3107:Itk
|
UTSW |
11 |
46,327,464 (GRCm38) |
missense |
probably benign |
0.15 |
|
R3546:Itk
|
UTSW |
11 |
46,355,848 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4601:Itk
|
UTSW |
11 |
46,336,515 (GRCm38) |
missense |
probably benign |
0.17 |
|
R4610:Itk
|
UTSW |
11 |
46,336,515 (GRCm38) |
missense |
probably benign |
0.17 |
|
R4792:Itk
|
UTSW |
11 |
46,344,831 (GRCm38) |
intron |
probably benign |
|
|
R4885:Itk
|
UTSW |
11 |
46,336,344 (GRCm38) |
splice site |
probably null |
|
|
R4934:Itk
|
UTSW |
11 |
46,389,325 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5286:Itk
|
UTSW |
11 |
46,338,099 (GRCm38) |
splice site |
probably null |
|
|
R5328:Itk
|
UTSW |
11 |
46,331,876 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5399:Itk
|
UTSW |
11 |
46,338,111 (GRCm38) |
missense |
probably benign |
0.44 |
|
R5958:Itk
|
UTSW |
11 |
46,344,855 (GRCm38) |
intron |
probably benign |
|
|
R6235:Itk
|
UTSW |
11 |
46,336,428 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6828:Itk
|
UTSW |
11 |
46,341,218 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6849:Itk
|
UTSW |
11 |
46,331,935 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7356:Itk
|
UTSW |
11 |
46,367,832 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R7753:Itk
|
UTSW |
11 |
46,331,895 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7932:Itk
|
UTSW |
11 |
46,340,692 (GRCm38) |
missense |
probably benign |
|
|
R7988:Itk
|
UTSW |
11 |
46,355,834 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8188:Itk
|
UTSW |
11 |
46,331,949 (GRCm38) |
nonsense |
probably null |
|
|
R8337:Itk
|
UTSW |
11 |
46,342,395 (GRCm38) |
splice site |
probably null |
|
|
R8738:Itk
|
UTSW |
11 |
46,340,712 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9028:Itk
|
UTSW |
11 |
46,344,883 (GRCm38) |
intron |
probably benign |
|
|
R9650:Itk
|
UTSW |
11 |
46,331,951 (GRCm38) |
missense |
probably damaging |
1.00 |
|
U24488:Itk
|
UTSW |
11 |
46,338,144 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0062:Itk
|
UTSW |
11 |
46,366,044 (GRCm38) |
missense |
probably benign |
0.15 |
|
Z1088:Itk
|
UTSW |
11 |
46,353,862 (GRCm38) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGAGCCCGCTTGAACATC -3'
(R):5'- ACCAGGTCATCAAGGTGTCC -3'
Sequencing Primer
(F):5'- CGCTTGAACATCTCAGGTTG -3'
(R):5'- TCCGACTTTGGGATGACAAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation