Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00950:Itk'

28572

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itk

Ensembl Gene

ENSMUSG00000020395

Gene Name

IL2 inducible T cell kinase

Synonyms

Emt, Tsk, Tcsk

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

IGL00950

Quality Score

Status

Chromosome

Chromosomal Location

46325150-46389515 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46367896 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 60 (I60F)

Ref Sequence

ENSEMBL: ENSMUSP00000098864 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000020664
AA Change: I60F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020664
Gene: ENSMUSG00000020395
AA Change: I60F

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: I60F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098864
Gene: ENSMUSG00000020395
AA Change: I60F

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: I60F

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104860
Gene: ENSMUSG00000020395
AA Change: I60F

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

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	T	C	7: 67,120,912	V923A	possibly damaging	Het
Als2	G	A	1: 59,215,382	A272V	probably benign	Het
Chrne	C	T	11: 70,619,157		probably benign	Het
D430042O09Rik	T	A	7: 125,843,221	D767E	probably benign	Het
Dhx34	C	T	7: 16,199,826	R947H	probably damaging	Het
Dnah7b	A	T	1: 46,214,322	M1796L	probably benign	Het
Doxl2	A	C	6: 48,978,131	N635T	possibly damaging	Het
Dstyk	C	T	1: 132,459,988	T820I	probably damaging	Het
Eif4g1	A	G	16: 20,683,628	K942E	probably damaging	Het
Fbn1	C	T	2: 125,358,823	G1318E	probably damaging	Het
Galnt5	T	C	2: 57,999,132	V248A	probably benign	Het
Gcnt4	A	G	13: 96,946,556	Y120C	probably damaging	Het
Gdf5	A	G	2: 155,941,706	V442A	probably damaging	Het
H2-Q4	A	C	17: 35,382,858	D232A	probably damaging	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Htt	A	G	5: 34,891,441	I2423V	probably benign	Het
Izumo1	T	A	7: 45,622,871	C25*	probably null	Het
Lamc1	G	T	1: 153,240,495	P980H	probably damaging	Het
Ncor2	C	A	5: 125,086,890	R367L	unknown	Het
Pcdhb17	A	T	18: 37,486,006		probably null	Het
Rnf123	C	A	9: 108,067,395		probably null	Het
Sh3bgrl2	T	A	9: 83,577,490	F34I	probably damaging	Het
Sharpin	T	C	15: 76,348,224	E171G	probably damaging	Het
Slc22a30	A	T	19: 8,335,788	D544E	probably benign	Het
Slc36a1	T	C	11: 55,226,128	C328R	probably damaging	Het
Sntg2	T	C	12: 30,312,681		probably benign	Het
Sox13	A	G	1: 133,387,106	V272A	probably benign	Het
Sppl2b	T	G	10: 80,864,094	L37R	probably damaging	Het
Strip1	T	A	3: 107,621,445	S390C	probably damaging	Het
Stxbp5	T	A	10: 9,808,602		probably benign	Het
Supt16	T	C	14: 52,161,798	E1008G	possibly damaging	Het
Vmn1r174	C	A	7: 23,754,486	H192Q	possibly damaging	Het
Vsir	C	T	10: 60,364,284	Q154*	probably null	Het
Xrn2	A	T	2: 147,028,146	R252*	probably null	Het

Other mutations in Itk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
goodnow	UTSW	11	46338099	splice site	probably null
itxaro	UTSW	11	46338217	missense	probably damaging	1.00
R0095:Itk	UTSW	11	46342452	missense	probably damaging	0.99
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
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

2013-04-17