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: 0.164) 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
Calame	UTSW	11	46342395	splice site	probably null
carbone	UTSW	11	46331949	nonsense	probably null
goodnow	UTSW	11	46338099	splice site	probably null
itxaro	UTSW	11	46338217	missense	probably damaging	1.00
BB009:Itk	UTSW	11	46340692	missense	probably benign
BB019:Itk	UTSW	11	46340692	missense	probably benign
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
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
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