Incidental Mutation 'R7988:Itk'
| ID |
651610 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itk
|
| Ensembl Gene |
ENSMUSG00000020395 |
| Gene Name |
IL2 inducible T cell kinase |
| Synonyms |
Tcsk, Tsk, Emt |
| MMRRC Submission |
046029-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R7988 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
46215977-46280342 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46246661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 186
(Y186H)
|
| 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: Y180H
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020664
Gene: ENSMUSG00000020395
AA Change: Y180H
| 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: Y180H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098864
Gene: ENSMUSG00000020395
AA Change: Y180H
| 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: Y186H
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104860
Gene: ENSMUSG00000020395
AA Change: Y186H
| 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: 99.1%
|
| Validation Efficiency |
100% (59/59) |
| 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 |
|---|
| 0610030E20Rik |
C |
T |
6: 72,324,635 (GRCm39) |
T56M |
probably damaging |
Het |
| Adamtsl5 |
C |
T |
10: 80,181,372 (GRCm39) |
S36N |
probably benign |
Het |
| Adgrf5 |
A |
T |
17: 43,750,704 (GRCm39) |
|
probably benign |
Het |
| Ago1 |
A |
G |
4: 126,354,210 (GRCm39) |
F200S |
probably damaging |
Het |
| Akr1cl |
T |
C |
1: 65,063,865 (GRCm39) |
D108G |
possibly damaging |
Het |
| Aopep |
A |
G |
13: 63,208,954 (GRCm39) |
D357G |
probably benign |
Het |
| Arhgef3 |
A |
T |
14: 27,123,743 (GRCm39) |
D468V |
probably benign |
Het |
| Aspn |
T |
C |
13: 49,705,353 (GRCm39) |
C72R |
possibly damaging |
Het |
| Baz2b |
T |
C |
2: 59,792,485 (GRCm39) |
T548A |
possibly damaging |
Het |
| Birc6 |
G |
A |
17: 74,906,368 (GRCm39) |
|
probably null |
Het |
| Btnl2 |
A |
T |
17: 34,577,249 (GRCm39) |
T135S |
possibly damaging |
Het |
| Ccnl1 |
T |
A |
3: 65,865,282 (GRCm39) |
I90F |
possibly damaging |
Het |
| Ccnt1 |
T |
C |
15: 98,463,024 (GRCm39) |
|
probably null |
Het |
| Cemip |
C |
A |
7: 83,652,616 (GRCm39) |
|
probably benign |
Het |
| Cfap45 |
A |
G |
1: 172,357,501 (GRCm39) |
D85G |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,737,941 (GRCm39) |
D2319V |
unknown |
Het |
| Cma1 |
T |
C |
14: 56,181,989 (GRCm39) |
M14V |
possibly damaging |
Het |
| Cmtm1 |
T |
C |
8: 105,036,774 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
A |
G |
4: 63,249,559 (GRCm39) |
H1738R |
unknown |
Het |
| Colq |
T |
A |
14: 31,275,794 (GRCm39) |
D41V |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,337,166 (GRCm39) |
T2437A |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,611,139 (GRCm39) |
D3755G |
probably damaging |
Het |
| Eprs1 |
A |
G |
1: 185,150,545 (GRCm39) |
Y1349C |
probably damaging |
Het |
| Eps8 |
C |
T |
6: 137,505,569 (GRCm39) |
R53Q |
possibly damaging |
Het |
| Fbf1 |
T |
C |
11: 116,043,594 (GRCm39) |
D405G |
probably benign |
Het |
| Fen1 |
C |
T |
19: 10,177,674 (GRCm39) |
E257K |
possibly damaging |
Het |
| Gstm7 |
A |
T |
3: 107,834,271 (GRCm39) |
M198K |
possibly damaging |
Het |
| Hook3 |
A |
T |
8: 26,563,675 (GRCm39) |
S190T |
probably benign |
Het |
| Htra4 |
A |
C |
8: 25,520,526 (GRCm39) |
|
probably null |
Het |
| Ighv1-15 |
T |
C |
12: 114,621,116 (GRCm39) |
I70V |
probably benign |
Het |
| Ikzf4 |
T |
A |
10: 128,470,324 (GRCm39) |
N452Y |
probably damaging |
Het |
| Insyn2a |
T |
G |
7: 134,519,427 (GRCm39) |
K368Q |
probably damaging |
Het |
| Iqcf5 |
T |
A |
9: 106,393,020 (GRCm39) |
N92K |
possibly damaging |
Het |
| Klhdc10 |
T |
C |
6: 30,446,690 (GRCm39) |
S282P |
probably benign |
Het |
| Klhl18 |
T |
A |
9: 110,305,577 (GRCm39) |
E29V |
possibly damaging |
Het |
| Ky |
T |
C |
9: 102,402,614 (GRCm39) |
S140P |
probably damaging |
Het |
| Lmntd2 |
T |
C |
7: 140,793,550 (GRCm39) |
E112G |
unknown |
Het |
| Lrrc36 |
C |
A |
8: 106,178,718 (GRCm39) |
D304E |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,400,273 (GRCm39) |
F674Y |
probably damaging |
Het |
| Notch1 |
C |
T |
2: 26,361,013 (GRCm39) |
D1111N |
probably benign |
Het |
| Osbpl8 |
T |
G |
10: 111,107,941 (GRCm39) |
N312K |
possibly damaging |
Het |
| Otogl |
C |
T |
10: 107,731,637 (GRCm39) |
C168Y |
probably damaging |
Het |
| Phldb2 |
T |
G |
16: 45,645,934 (GRCm39) |
T171P |
probably benign |
Het |
| Ppef2 |
A |
T |
5: 92,386,841 (GRCm39) |
F365L |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Ryr1 |
G |
A |
7: 28,795,596 (GRCm39) |
T1105I |
probably benign |
Het |
| Sclt1 |
T |
A |
3: 41,617,889 (GRCm39) |
*29L |
probably null |
Het |
| Scn11a |
T |
C |
9: 119,594,503 (GRCm39) |
K1297E |
probably damaging |
Het |
| Serpinb9c |
T |
A |
13: 33,334,262 (GRCm39) |
Y288F |
probably benign |
Het |
| Setd1a |
T |
A |
7: 127,385,366 (GRCm39) |
M691K |
probably benign |
Het |
| Sftpc |
T |
C |
14: 70,760,059 (GRCm39) |
E66G |
probably damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,131,934 (GRCm39) |
I359V |
probably benign |
Het |
| Thnsl2 |
T |
C |
6: 71,118,303 (GRCm39) |
T42A |
probably benign |
Het |
| Tram1 |
T |
C |
1: 13,640,199 (GRCm39) |
D285G |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,675,374 (GRCm39) |
P11137L |
unknown |
Het |
| Ttn |
C |
A |
2: 76,727,103 (GRCm39) |
V5821F |
unknown |
Het |
| Ttn |
A |
T |
2: 76,566,584 (GRCm39) |
I28103K |
probably damaging |
Het |
| Usp38 |
T |
A |
8: 81,740,945 (GRCm39) |
M41L |
probably benign |
Het |
| Zcwpw1 |
T |
G |
5: 137,815,753 (GRCm39) |
Y419D |
possibly damaging |
Het |
| Zfp407 |
G |
A |
18: 84,577,525 (GRCm39) |
A1196V |
possibly damaging |
Het |
| Zfp446 |
T |
A |
7: 12,712,970 (GRCm39) |
S103T |
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 |
|
R7932:Itk
|
UTSW |
11 |
46,231,519 (GRCm39) |
missense |
probably benign |
|
|
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'- TGGCTTAAGATGCGGTGCAG -3'
(R):5'- CTTGATGAATGCAACTGCCTC -3'
Sequencing Primer
(F):5'- GTGGAAACATCTCTGCTCAGC -3'
(R):5'- TCTGCAAAAGACCCCAGTGGATAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation