Incidental Mutation 'R1550:Itk'
ID |
169863 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itk
|
Ensembl Gene |
ENSMUSG00000020395 |
Gene Name |
IL2 inducible T cell kinase |
Synonyms |
Tcsk, Tsk, Emt |
MMRRC Submission |
039589-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.116)
|
Stock # |
R1550 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
46215977-46280342 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 46280153 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 29
(R29S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104860
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020664]
[ENSMUST00000101306]
[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: R29S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020664 Gene: ENSMUSG00000020395 AA Change: R29S
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: ENSMUST00000101306
AA Change: R29S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098864 Gene: ENSMUSG00000020395 AA Change: R29S
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109237
AA Change: R29S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104860 Gene: ENSMUSG00000020395 AA Change: R29S
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: ENSMUST00000155991
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.2%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
A |
G |
7: 45,654,668 (GRCm39) |
V551A |
probably benign |
Het |
Acss1 |
A |
T |
2: 150,484,715 (GRCm39) |
L176Q |
probably damaging |
Het |
Aldh7a1 |
A |
G |
18: 56,683,454 (GRCm39) |
I117T |
possibly damaging |
Het |
Arf5 |
C |
T |
6: 28,426,152 (GRCm39) |
R180C |
probably damaging |
Het |
Arhgap21 |
A |
T |
2: 20,886,576 (GRCm39) |
Y39* |
probably null |
Het |
Arrdc1 |
A |
G |
2: 24,816,351 (GRCm39) |
L206P |
probably damaging |
Het |
Cby3 |
A |
T |
11: 50,250,313 (GRCm39) |
Y173F |
probably damaging |
Het |
Cdh18 |
T |
A |
15: 23,436,634 (GRCm39) |
C497S |
probably damaging |
Het |
Cyp11b2 |
T |
C |
15: 74,725,442 (GRCm39) |
I226V |
probably benign |
Het |
Ddit4l |
T |
A |
3: 137,330,036 (GRCm39) |
|
probably null |
Het |
Ddx11 |
C |
T |
17: 66,445,215 (GRCm39) |
T405I |
probably benign |
Het |
Dhx40 |
A |
T |
11: 86,667,565 (GRCm39) |
|
probably null |
Het |
Dlgap2 |
A |
G |
8: 14,872,499 (GRCm39) |
D659G |
probably damaging |
Het |
Eef2 |
A |
G |
10: 81,016,681 (GRCm39) |
E586G |
probably benign |
Het |
Fam161a |
A |
G |
11: 22,970,470 (GRCm39) |
Q216R |
possibly damaging |
Het |
Fbxw24 |
G |
T |
9: 109,436,112 (GRCm39) |
R307S |
probably benign |
Het |
Gbp2b |
G |
T |
3: 142,312,591 (GRCm39) |
A325S |
probably damaging |
Het |
Gli1 |
A |
T |
10: 127,174,385 (GRCm39) |
F2Y |
probably damaging |
Het |
Gnl2 |
T |
C |
4: 124,938,027 (GRCm39) |
V269A |
probably damaging |
Het |
Grin1 |
A |
G |
2: 25,195,143 (GRCm39) |
V292A |
probably benign |
Het |
Heg1 |
T |
A |
16: 33,555,923 (GRCm39) |
V1001E |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,785,406 (GRCm39) |
I1552N |
probably damaging |
Het |
Htr1a |
A |
G |
13: 105,581,788 (GRCm39) |
T343A |
probably benign |
Het |
Ivns1abp |
G |
T |
1: 151,237,242 (GRCm39) |
G469C |
probably damaging |
Het |
Jph3 |
A |
T |
8: 122,511,598 (GRCm39) |
N529Y |
possibly damaging |
Het |
Kdm2b |
A |
G |
5: 123,019,120 (GRCm39) |
L829P |
probably damaging |
Het |
Kprp |
T |
A |
3: 92,732,033 (GRCm39) |
Y339F |
probably damaging |
Het |
Lrp2 |
A |
G |
2: 69,333,005 (GRCm39) |
V1504A |
possibly damaging |
Het |
Lypd6b |
A |
G |
2: 49,833,615 (GRCm39) |
D85G |
probably damaging |
Het |
Mansc4 |
T |
C |
6: 146,977,136 (GRCm39) |
Y160C |
probably damaging |
Het |
Mgll |
C |
A |
6: 88,790,871 (GRCm39) |
H164N |
probably benign |
Het |
Mtmr4 |
A |
T |
11: 87,504,342 (GRCm39) |
D1097V |
probably damaging |
Het |
Nfasc |
T |
C |
1: 132,536,241 (GRCm39) |
K571E |
probably damaging |
Het |
Nfat5 |
A |
T |
8: 108,097,205 (GRCm39) |
N1527Y |
probably damaging |
Het |
Nlgn1 |
A |
G |
3: 25,966,808 (GRCm39) |
L215P |
probably damaging |
Het |
Or6b9 |
T |
A |
7: 106,555,235 (GRCm39) |
I303L |
probably benign |
Het |
Pde4dip |
T |
C |
3: 97,627,020 (GRCm39) |
S1173G |
probably damaging |
Het |
Prrt3 |
A |
T |
6: 113,472,468 (GRCm39) |
V568E |
probably damaging |
Het |
Ptpra |
G |
A |
2: 130,383,313 (GRCm39) |
R503Q |
possibly damaging |
Het |
Pttg1ip2 |
C |
A |
5: 5,502,019 (GRCm39) |
W144C |
probably benign |
Het |
Rnf7l |
A |
G |
10: 63,257,427 (GRCm39) |
L31P |
probably damaging |
Het |
Sema5a |
G |
A |
15: 32,618,995 (GRCm39) |
A508T |
probably benign |
Het |
Serpinb11 |
T |
C |
1: 107,307,418 (GRCm39) |
I283T |
possibly damaging |
Het |
Setbp1 |
A |
T |
18: 78,901,807 (GRCm39) |
L620Q |
probably damaging |
Het |
Sipa1l3 |
A |
T |
7: 29,082,628 (GRCm39) |
C756S |
probably benign |
Het |
Sirpa |
A |
T |
2: 129,471,961 (GRCm39) |
I463F |
probably damaging |
Het |
Slc13a2 |
G |
T |
11: 78,293,990 (GRCm39) |
N257K |
probably damaging |
Het |
Slc4a5 |
C |
A |
6: 83,248,039 (GRCm39) |
T530N |
probably damaging |
Het |
Stab2 |
A |
T |
10: 86,714,790 (GRCm39) |
F125L |
probably benign |
Het |
Tet2 |
G |
T |
3: 133,175,280 (GRCm39) |
Q1356K |
probably benign |
Het |
Tet3 |
A |
T |
6: 83,363,010 (GRCm39) |
S856T |
probably damaging |
Het |
Tg |
C |
T |
15: 66,565,279 (GRCm39) |
T1207I |
possibly damaging |
Het |
Tkt |
A |
G |
14: 30,287,525 (GRCm39) |
Y173C |
probably damaging |
Het |
Tlr6 |
T |
A |
5: 65,110,754 (GRCm39) |
I718F |
probably damaging |
Het |
Tnfrsf11b |
A |
G |
15: 54,117,454 (GRCm39) |
V267A |
possibly damaging |
Het |
Ubqln3 |
T |
A |
7: 103,790,753 (GRCm39) |
N446Y |
probably damaging |
Het |
Vmn2r118 |
C |
T |
17: 55,915,083 (GRCm39) |
C521Y |
probably damaging |
Het |
Vps16 |
A |
G |
2: 130,282,260 (GRCm39) |
D394G |
probably benign |
Het |
Zfp236 |
A |
T |
18: 82,692,549 (GRCm39) |
M142K |
possibly damaging |
Het |
Zfp780b |
T |
C |
7: 27,664,282 (GRCm39) |
D91G |
probably benign |
Het |
Zfp97 |
T |
A |
17: 17,365,468 (GRCm39) |
Y322* |
probably null |
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 |
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'- TGGCTTCCAAAACACACTGTACCTG -3'
(R):5'- GGCAAGTTGCCTTTGAACGACTC -3'
Sequencing Primer
(F):5'- TGCATCCCAGGTGTTCAAG -3'
(R):5'- TAAAGATCAACTGCATCCTGTCTCAG -3'
|
Posted On |
2014-04-13 |