Incidental Mutation 'R6849:Itk'
| ID |
534924 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itk
|
| Ensembl Gene |
ENSMUSG00000020395 |
| Gene Name |
IL2 inducible T cell kinase |
| Synonyms |
Tcsk, Tsk, Emt |
| MMRRC Submission |
044953-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R6849 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
46215977-46280342 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46222762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 563
(N563S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020664
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020664]
[ENSMUST00000109237]
|
| AlphaFold |
Q03526 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020664
AA Change: N563S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020664
Gene: ENSMUSG00000020395
AA Change: N563S
| 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: N569S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104860
Gene: ENSMUSG00000020395
AA Change: N569S
| 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: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (55/55) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
G |
T |
8: 125,366,261 (GRCm39) |
Q161K |
probably damaging |
Het |
| 4930578I06Rik |
A |
T |
14: 64,223,687 (GRCm39) |
W30R |
probably damaging |
Het |
| 4930578I06Rik |
G |
T |
14: 64,223,688 (GRCm39) |
N29K |
probably benign |
Het |
| Aldh6a1 |
A |
G |
12: 84,490,561 (GRCm39) |
V18A |
probably benign |
Het |
| Apoa5 |
A |
G |
9: 46,181,298 (GRCm39) |
K125E |
probably benign |
Het |
| Atosa |
A |
C |
9: 74,916,594 (GRCm39) |
N398H |
probably damaging |
Het |
| Bphl |
T |
A |
13: 34,234,252 (GRCm39) |
|
probably null |
Het |
| C2cd3 |
T |
A |
7: 100,056,134 (GRCm39) |
V514E |
probably damaging |
Het |
| Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,945,506 (GRCm39) |
D202G |
probably benign |
Het |
| Chd5 |
A |
T |
4: 152,462,995 (GRCm39) |
N1420Y |
probably damaging |
Het |
| Cnot10 |
A |
T |
9: 114,461,004 (GRCm39) |
D55E |
probably benign |
Het |
| Cntn1 |
T |
A |
15: 92,203,127 (GRCm39) |
I803N |
probably damaging |
Het |
| Col7a1 |
G |
T |
9: 108,804,121 (GRCm39) |
V2217L |
unknown |
Het |
| Cpne9 |
T |
G |
6: 113,279,079 (GRCm39) |
V491G |
probably damaging |
Het |
| Cracd |
C |
A |
5: 77,004,857 (GRCm39) |
A406E |
unknown |
Het |
| Cracd |
C |
T |
5: 77,005,004 (GRCm39) |
A455V |
unknown |
Het |
| Csnk2a1 |
C |
A |
2: 152,092,484 (GRCm39) |
H18Q |
probably benign |
Het |
| D130040H23Rik |
T |
A |
8: 69,755,303 (GRCm39) |
Y253* |
probably null |
Het |
| Dnah14 |
A |
T |
1: 181,636,510 (GRCm39) |
M4321L |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,278,770 (GRCm39) |
T1122A |
probably benign |
Het |
| Eif4g1 |
A |
G |
16: 20,499,495 (GRCm39) |
I515V |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,163,611 (GRCm39) |
K2082E |
possibly damaging |
Het |
| Fstl1 |
A |
G |
16: 37,641,521 (GRCm39) |
K99R |
probably benign |
Het |
| Gar1 |
T |
C |
3: 129,623,038 (GRCm39) |
N117S |
probably damaging |
Het |
| Gm3238 |
A |
T |
10: 77,606,744 (GRCm39) |
|
probably benign |
Het |
| Gm32742 |
C |
T |
9: 51,050,014 (GRCm39) |
M1528I |
probably benign |
Het |
| H2-T3 |
T |
C |
17: 36,500,697 (GRCm39) |
I49V |
probably benign |
Het |
| Hyou1 |
A |
G |
9: 44,298,561 (GRCm39) |
I581V |
probably damaging |
Het |
| Lingo1 |
A |
G |
9: 56,526,900 (GRCm39) |
L563P |
probably damaging |
Het |
| Lipc |
A |
G |
9: 70,726,129 (GRCm39) |
|
probably null |
Het |
| Map4k3 |
A |
C |
17: 80,937,842 (GRCm39) |
|
probably null |
Het |
| Mctp2 |
C |
T |
7: 71,861,466 (GRCm39) |
C393Y |
probably damaging |
Het |
| Mei1 |
T |
A |
15: 81,964,146 (GRCm39) |
L229M |
possibly damaging |
Het |
| Or13g1 |
T |
C |
7: 85,956,248 (GRCm39) |
I24M |
possibly damaging |
Het |
| Or9i2 |
G |
T |
19: 13,816,203 (GRCm39) |
C111* |
probably null |
Het |
| Pcnx2 |
A |
G |
8: 126,587,949 (GRCm39) |
V833A |
probably damaging |
Het |
| Pde8b |
T |
C |
13: 95,184,307 (GRCm39) |
N388D |
possibly damaging |
Het |
| Pi4ka |
G |
A |
16: 17,121,285 (GRCm39) |
A1197V |
possibly damaging |
Het |
| Psd |
A |
G |
19: 46,306,185 (GRCm39) |
Y36H |
probably damaging |
Het |
| Scn8a |
T |
A |
15: 100,853,468 (GRCm39) |
|
probably null |
Het |
| Shisa6 |
A |
G |
11: 66,416,327 (GRCm39) |
V155A |
probably benign |
Het |
| Slc45a3 |
T |
A |
1: 131,905,702 (GRCm39) |
C242S |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Tmc3 |
T |
A |
7: 83,235,565 (GRCm39) |
I54K |
probably damaging |
Het |
| Tmprss11g |
T |
A |
5: 86,644,491 (GRCm39) |
I118F |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,744,687 (GRCm39) |
D5454V |
possibly damaging |
Het |
| Ube2f |
A |
G |
1: 91,181,935 (GRCm39) |
|
probably null |
Het |
| Ubr7 |
T |
C |
12: 102,724,342 (GRCm39) |
S19P |
probably damaging |
Het |
| Vav3 |
T |
C |
3: 109,428,782 (GRCm39) |
V371A |
probably damaging |
Het |
| Vmn2r28 |
A |
G |
7: 5,483,806 (GRCm39) |
V798A |
probably damaging |
Het |
| Vmn2r95 |
T |
G |
17: 18,664,181 (GRCm39) |
C467G |
probably damaging |
Het |
| Vmn2r95 |
G |
T |
17: 18,664,182 (GRCm39) |
C467F |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,905,455 (GRCm39) |
D3325G |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,220,834 (GRCm39) |
T1158A |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,976,276 (GRCm39) |
N848K |
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 |
|
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'- AAACACGGACAAAGTCTGGC -3'
(R):5'- GAGGGGTGGACTTAATACTCACTAC -3'
Sequencing Primer
(F):5'- GACAAAGTCTGGCCTGTTTATTACG -3'
(R):5'- GGTGGACTTAATACTCACTACAAGGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation