Incidental Mutation 'R7932:Itk'
ID |
643664 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itk
|
Ensembl Gene |
ENSMUSG00000020395 |
Gene Name |
IL2 inducible T cell kinase |
Synonyms |
Tcsk, Tsk, Emt |
MMRRC Submission |
045649-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.116)
|
Stock # |
R7932 (G1)
|
Quality Score |
999 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
46215977-46280342 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 46231519 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 346
(W346R)
|
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 |
possibly damaging
Transcript: ENSMUST00000020664
AA Change: W340R
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000020664 Gene: ENSMUSG00000020395 AA Change: W340R
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 benign
Transcript: ENSMUST00000101306
|
SMART Domains |
Protein: ENSMUSP00000098864 Gene: ENSMUSG00000020395
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 benign
Transcript: ENSMUST00000109237
AA Change: W346R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000104860 Gene: ENSMUSG00000020395 AA Change: W346R
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: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss2 |
A |
G |
2: 155,415,100 (GRCm39) |
R666G |
unknown |
Het |
Adam21 |
T |
A |
12: 81,606,938 (GRCm39) |
N275Y |
probably damaging |
Het |
Adam33 |
G |
A |
2: 130,905,617 (GRCm39) |
|
probably benign |
Het |
Arhgap24 |
A |
T |
5: 102,993,835 (GRCm39) |
|
probably benign |
Het |
Arhgef1 |
C |
T |
7: 24,619,135 (GRCm39) |
L459F |
probably damaging |
Het |
Bbx |
A |
T |
16: 50,030,806 (GRCm39) |
|
probably null |
Het |
Blk |
C |
T |
14: 63,611,008 (GRCm39) |
G445S |
possibly damaging |
Het |
Brca1 |
T |
C |
11: 101,430,843 (GRCm39) |
E33G |
possibly damaging |
Het |
Cacna1s |
T |
G |
1: 136,012,097 (GRCm39) |
L513R |
probably damaging |
Het |
Cnn3 |
T |
A |
3: 121,245,078 (GRCm39) |
M98K |
probably benign |
Het |
Cttnbp2 |
T |
A |
6: 18,427,532 (GRCm39) |
L716F |
probably damaging |
Het |
Dlgap1 |
A |
T |
17: 70,823,233 (GRCm39) |
R73W |
probably damaging |
Het |
Dnajc4 |
A |
G |
19: 6,965,638 (GRCm39) |
L182P |
probably damaging |
Het |
Dock2 |
T |
C |
11: 34,217,998 (GRCm39) |
M1191V |
probably benign |
Het |
Fam13a |
C |
T |
6: 58,960,873 (GRCm39) |
|
probably null |
Het |
Fbn2 |
C |
T |
18: 58,153,555 (GRCm39) |
G2569E |
possibly damaging |
Het |
Fes |
T |
C |
7: 80,029,620 (GRCm39) |
I623V |
probably damaging |
Het |
Fyco1 |
A |
C |
9: 123,658,055 (GRCm39) |
L707R |
possibly damaging |
Het |
Gadd45b |
T |
A |
10: 80,766,169 (GRCm39) |
V7E |
possibly damaging |
Het |
Gm19410 |
T |
A |
8: 36,262,753 (GRCm39) |
C897S |
probably damaging |
Het |
Hk1 |
A |
G |
10: 62,151,299 (GRCm39) |
L31P |
probably damaging |
Het |
Hoxa4 |
T |
G |
6: 52,167,397 (GRCm39) |
K261N |
probably damaging |
Het |
Hrh4 |
T |
A |
18: 13,148,869 (GRCm39) |
L77* |
probably null |
Het |
Igf1r |
A |
T |
7: 67,861,802 (GRCm39) |
I1121F |
possibly damaging |
Het |
Igkv16-104 |
A |
T |
6: 68,402,778 (GRCm39) |
I24L |
probably benign |
Het |
Kdm2a |
A |
G |
19: 4,369,184 (GRCm39) |
S1144P |
probably damaging |
Het |
Krt86 |
A |
T |
15: 101,374,473 (GRCm39) |
S289C |
probably damaging |
Het |
Lonrf1 |
T |
C |
8: 36,690,070 (GRCm39) |
I663V |
probably benign |
Het |
Lrp2 |
T |
G |
2: 69,256,371 (GRCm39) |
I4590L |
probably benign |
Het |
Lrrc8d |
C |
T |
5: 105,960,891 (GRCm39) |
R434C |
probably damaging |
Het |
Maneal |
T |
C |
4: 124,755,638 (GRCm39) |
Y108C |
probably damaging |
Het |
Muc21 |
TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT |
TCCTGAGGCAGTGCTGGAT |
17: 35,933,525 (GRCm39) |
|
probably benign |
Het |
Myh8 |
G |
A |
11: 67,185,430 (GRCm39) |
V894I |
probably benign |
Het |
Ncam2 |
T |
G |
16: 81,412,708 (GRCm39) |
L732R |
probably damaging |
Het |
Nsun4 |
A |
T |
4: 115,901,997 (GRCm39) |
D156E |
probably damaging |
Het |
Or10z1 |
T |
C |
1: 174,078,260 (GRCm39) |
I78V |
probably benign |
Het |
Or1e23 |
A |
C |
11: 73,407,983 (GRCm39) |
L14R |
probably damaging |
Het |
Or2n1d |
A |
T |
17: 38,646,146 (GRCm39) |
I33L |
probably benign |
Het |
Or5b106 |
A |
T |
19: 13,123,345 (GRCm39) |
M226K |
probably benign |
Het |
Or5v1b |
T |
C |
17: 37,841,075 (GRCm39) |
I69T |
probably benign |
Het |
Or6c66 |
C |
A |
10: 129,461,094 (GRCm39) |
V279F |
probably damaging |
Het |
P2rx7 |
G |
A |
5: 122,782,245 (GRCm39) |
V37I |
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,481,359 (GRCm39) |
R235G |
probably benign |
Het |
Pcdhga1 |
T |
C |
18: 37,796,513 (GRCm39) |
S506P |
probably damaging |
Het |
Pira2 |
A |
T |
7: 3,845,435 (GRCm39) |
|
probably null |
Het |
Plch1 |
A |
G |
3: 63,609,402 (GRCm39) |
V935A |
probably benign |
Het |
Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
Prpf8 |
A |
G |
11: 75,383,423 (GRCm39) |
D607G |
possibly damaging |
Het |
Ptdss1 |
T |
C |
13: 67,114,496 (GRCm39) |
W215R |
probably damaging |
Het |
Ptpn9 |
C |
A |
9: 56,943,900 (GRCm39) |
P258Q |
possibly damaging |
Het |
Rfpl4b |
A |
G |
10: 38,697,346 (GRCm39) |
V85A |
possibly damaging |
Het |
Sacs |
C |
A |
14: 61,442,327 (GRCm39) |
Q1458K |
probably damaging |
Het |
Scfd2 |
A |
T |
5: 74,692,211 (GRCm39) |
S24T |
probably benign |
Het |
Siae |
A |
G |
9: 37,544,980 (GRCm39) |
D325G |
probably benign |
Het |
Slc22a23 |
C |
A |
13: 34,366,960 (GRCm39) |
A683S |
probably damaging |
Het |
Slc44a3 |
A |
T |
3: 121,306,009 (GRCm39) |
I244N |
possibly damaging |
Het |
Srrm2 |
T |
A |
17: 24,037,501 (GRCm39) |
S1382T |
probably benign |
Het |
Tfap2c |
A |
G |
2: 172,393,706 (GRCm39) |
Y207C |
probably damaging |
Het |
Timd5 |
C |
A |
11: 46,426,366 (GRCm39) |
P158T |
probably benign |
Het |
Tnc |
T |
C |
4: 63,926,857 (GRCm39) |
I890V |
probably benign |
Het |
Trim30a |
A |
T |
7: 104,078,545 (GRCm39) |
I177N |
probably benign |
Het |
Tshz2 |
T |
A |
2: 169,728,251 (GRCm39) |
M949K |
possibly damaging |
Het |
Ttn |
T |
G |
2: 76,555,530 (GRCm39) |
T30492P |
probably damaging |
Het |
Ubb |
C |
T |
11: 62,443,611 (GRCm39) |
Q214* |
probably null |
Het |
Ulk2 |
A |
G |
11: 61,698,916 (GRCm39) |
S423P |
probably benign |
Het |
Vmn1r237 |
C |
A |
17: 21,534,725 (GRCm39) |
D149E |
probably benign |
Het |
Zbtb24 |
A |
G |
10: 41,327,504 (GRCm39) |
D130G |
probably benign |
Het |
Zfp689 |
C |
A |
7: 127,043,523 (GRCm39) |
G369V |
probably damaging |
Het |
Zg16 |
A |
G |
7: 126,649,577 (GRCm39) |
F128S |
probably damaging |
Het |
Zmym1 |
T |
G |
4: 126,944,578 (GRCm39) |
N203T |
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 |
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'- ACATAGGAGTACATAGGATCACTCTC -3'
(R):5'- AGGTCACCATGTCACTGTCC -3'
Sequencing Primer
(F):5'- AGGATCACTCTCCTACCTTCTC -3'
(R):5'- AAGGCTCCTCTCAAGAACTCTGTG -3'
|
Posted On |
2020-08-07 |