Mutagenetix > Incidental Mutation

Incidental Mutation 'R0095:Itk'

17958

Institutional Source

Beutler Lab

Gene Symbol

Itk

Ensembl Gene

ENSMUSG00000020395

Gene Name

IL2 inducible T cell kinase

Synonyms

Emt, Tsk, Tcsk

MMRRC Submission

038381-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

R0095 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

46325150-46389515 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46342452 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 266 (D266G)

Ref Sequence

ENSEMBL: ENSMUSP00000020664 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020664] [ENSMUST00000101306] [ENSMUST00000109237]

AlphaFold

Q03526

Predicted Effect

probably damaging
Transcript: ENSMUST00000020664
AA Change: D266G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020664
Gene: ENSMUSG00000020395
AA Change: D266G

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

possibly damaging
Transcript: ENSMUST00000109237
AA Change: D272G

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104860
Gene: ENSMUSG00000020395
AA Change: D272G

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: ENSMUST00000148132

Meta Mutation Damage Score

0.6844

Coding Region Coverage

1x: 88.6%
3x: 85.1%
10x: 74.3%
20x: 56.3%

Validation Efficiency

88% (50/57)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adhfe1	T	C	1: 9,560,177	I317T	possibly damaging	Het
Aldh3a2	C	T	11: 61,250,948	G21D	probably damaging	Het
Alms1	C	A	6: 85,620,253	T1156N	possibly damaging	Het
Anxa8	G	A	14: 34,086,071	A6T	probably benign	Het
Arhgef4	C	T	1: 34,732,370	Q86*	probably null	Het
Atp4a	T	A	7: 30,720,735	I769N	probably damaging	Het
Cacnb2	G	T	2: 14,958,775	V61F	probably damaging	Het
Clcf1	T	G	19: 4,215,788		probably benign	Het
Cmah	G	T	13: 24,436,685	A301S	probably benign	Het
Col6a4	A	G	9: 106,075,356	W448R	probably benign	Het
Csmd1	A	T	8: 16,233,051	D630E	probably damaging	Het
Dock10	A	T	1: 80,524,071	Y1434N	probably benign	Het
Etl4	A	G	2: 20,743,868	D137G	probably damaging	Het
Fer	A	T	17: 63,941,326	E361V	possibly damaging	Het
Foxp2	C	A	6: 15,196,977	A6E	probably damaging	Het
Gpr3	T	A	4: 133,211,286	D25V	probably benign	Het
Gstm7	A	T	3: 107,930,563		probably benign	Het
Gys1	T	C	7: 45,444,649	V332A	possibly damaging	Het
Igsf10	A	T	3: 59,331,196	Y521*	probably null	Het
Kdm1a	C	T	4: 136,550,894	R839H	probably benign	Het
Lypla1	T	C	1: 4,830,327		probably benign	Het
Mmp1a	G	A	9: 7,465,620	G186D	possibly damaging	Het
Myl3	A	C	9: 110,767,929	D119A	probably damaging	Het
Necab1	T	A	4: 14,960,027	N307Y	possibly damaging	Het
Olfr510	A	C	7: 108,668,045	I210L	probably benign	Het
Plekha5	T	C	6: 140,528,597	F84L	probably damaging	Het
Plxnb2	A	G	15: 89,165,331	S562P	probably benign	Het
Rfx8	C	T	1: 39,685,536	V222M	possibly damaging	Het
Rpap3	A	G	15: 97,680,536		probably benign	Het
Rpl6	T	G	5: 121,205,839	V115G	possibly damaging	Het
Sec16a	A	T	2: 26,425,760		probably null	Het
Sema3d	T	C	5: 12,563,347	Y464H	probably damaging	Het
Sgo2a	T	A	1: 58,015,555	N299K	probably benign	Het
Tecrl	T	C	5: 83,294,570		probably benign	Het
Thsd7a	T	C	6: 12,320,970	T1569A	probably damaging	Het
U2surp	T	C	9: 95,500,684		probably null	Het
Unc45a	T	C	7: 80,329,543	D567G	probably damaging	Het
Zfp532	A	G	18: 65,624,784	Y596C	probably damaging	Het

Other mutations in Itk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Itk	APN	11	46367896	missense	probably damaging	1.00
IGL01349:Itk	APN	11	46341200	missense	possibly damaging	0.84
IGL03290:Itk	APN	11	46334937	missense	probably damaging	1.00
IGL03385:Itk	APN	11	46331861	nonsense	probably null
Calame	UTSW	11	46342395	splice site	probably null
carbone	UTSW	11	46331949	nonsense	probably null
demon	UTSW	11	46340712	missense	probably damaging	1.00
goodnow	UTSW	11	46338099	splice site	probably null
itxaro	UTSW	11	46338217	missense	probably damaging	1.00
Segun	UTSW	11	46344883	intron	probably benign
BB009:Itk	UTSW	11	46340692	missense	probably benign
BB019:Itk	UTSW	11	46340692	missense	probably benign
R0265:Itk	UTSW	11	46389458	start gained	probably benign
R0281:Itk	UTSW	11	46353916	missense	probably damaging	1.00
R0463:Itk	UTSW	11	46331989	missense	probably damaging	1.00
R0518:Itk	UTSW	11	46360288	missense	probably damaging	0.98
R0521:Itk	UTSW	11	46360288	missense	probably damaging	0.98
R1121:Itk	UTSW	11	46331894	missense	possibly damaging	0.93
R1550:Itk	UTSW	11	46389326	missense	probably damaging	1.00
R1762:Itk	UTSW	11	46336482	missense	probably damaging	0.98
R2418:Itk	UTSW	11	46338217	missense	probably damaging	1.00
R2419:Itk	UTSW	11	46338217	missense	probably damaging	1.00
R2859:Itk	UTSW	11	46344835	intron	probably benign
R3107:Itk	UTSW	11	46327464	missense	probably benign	0.15
R3546:Itk	UTSW	11	46355848	missense	probably benign	0.00
R4601:Itk	UTSW	11	46336515	missense	probably benign	0.17
R4610:Itk	UTSW	11	46336515	missense	probably benign	0.17
R4792:Itk	UTSW	11	46344831	intron	probably benign
R4885:Itk	UTSW	11	46336344	splice site	probably null
R4934:Itk	UTSW	11	46389325	missense	probably damaging	1.00
R5286:Itk	UTSW	11	46338099	splice site	probably null
R5328:Itk	UTSW	11	46331876	missense	probably benign	0.04
R5399:Itk	UTSW	11	46338111	missense	probably benign	0.44
R5958:Itk	UTSW	11	46344855	intron	probably benign
R6235:Itk	UTSW	11	46336428	missense	probably benign	0.16
R6828:Itk	UTSW	11	46341218	missense	probably damaging	1.00
R6849:Itk	UTSW	11	46331935	missense	probably damaging	1.00
R7356:Itk	UTSW	11	46367832	missense	possibly damaging	0.72
R7753:Itk	UTSW	11	46331895	missense	probably damaging	1.00
R7932:Itk	UTSW	11	46340692	missense	probably benign
R7988:Itk	UTSW	11	46355834	missense	probably damaging	0.99
R8188:Itk	UTSW	11	46331949	nonsense	probably null
R8337:Itk	UTSW	11	46342395	splice site	probably null
R8738:Itk	UTSW	11	46340712	missense	probably damaging	1.00
R8993:Itk	UTSW	11	46334908	missense	probably damaging	1.00
R9028:Itk	UTSW	11	46344883	intron	probably benign
R9650:Itk	UTSW	11	46331951	missense	probably damaging	1.00
U24488:Itk	UTSW	11	46338144	missense	probably damaging	1.00
X0062:Itk	UTSW	11	46366044	missense	probably benign	0.15
Z1088:Itk	UTSW	11	46353862	splice site	probably null

Posted On

2013-03-25