Mutagenetix > Incidental Mutation

Incidental Mutation 'R0265:Itk'

98858

Institutional Source

Beutler Lab

Gene Symbol

Itk

Ensembl Gene

ENSMUSG00000020395

Gene Name

IL2 inducible T cell kinase

Synonyms

Tcsk, Tsk, Emt

MMRRC Submission

038491-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R0265 (G1)

Quality Score

168

Status

Not validated

Chromosome

Chromosomal Location

46215977-46280342 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 46280285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 benign
Transcript: ENSMUST00000020664

SMART Domains

Protein: ENSMUSP00000020664
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
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

probably benign
Transcript: ENSMUST00000109237

SMART Domains

Protein: ENSMUSP00000104860
Gene: ENSMUSG00000020395

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

1x: 98.5%
3x: 97.4%
10x: 95.6%
20x: 92.0%

Validation Efficiency

99% (83/84)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,822,850 (GRCm39)	I321V	probably benign	Het
Adcy7	A	G	8: 89,051,391 (GRCm39)	D837G	probably damaging	Het
Aldh1a1	T	A	19: 20,617,440 (GRCm39)	Y457*	probably null	Het
Alox5	T	C	6: 116,397,323 (GRCm39)	Y287C	probably benign	Het
Ano8	T	C	8: 71,933,168 (GRCm39)		probably benign	Het
Ap3b1	A	G	13: 94,630,189 (GRCm39)	K815E	unknown	Het
Atp11a	A	T	8: 12,906,930 (GRCm39)		probably benign	Het
Atp6v0a1	A	T	11: 100,939,341 (GRCm39)	D702V	possibly damaging	Het
Cacna1b	T	A	2: 24,651,856 (GRCm39)	N108Y	probably damaging	Het
Ccdc57	G	C	11: 120,812,637 (GRCm39)	A39G	probably benign	Het
Cdhr1	A	T	14: 36,803,333 (GRCm39)	V581D	probably benign	Het
Cfap20dc	T	G	14: 8,431,667 (GRCm38)	Y655S	probably damaging	Het
Cyp2b23	A	G	7: 26,372,304 (GRCm39)		probably benign	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Ddit4l	C	T	3: 137,330,048 (GRCm39)		probably benign	Het
Dnah8	A	T	17: 30,909,245 (GRCm39)	I1024F	probably benign	Het
Dync2i1	T	C	12: 116,221,026 (GRCm39)		probably benign	Het
Edc3	T	A	9: 57,634,621 (GRCm39)	F213I	probably damaging	Het
Edrf1	G	A	7: 133,258,774 (GRCm39)	D717N	probably damaging	Het
Efna5	G	A	17: 62,958,068 (GRCm39)	P63S	probably damaging	Het
Elapor2	T	C	5: 9,484,681 (GRCm39)	L486P	probably damaging	Het
Entpd3	A	G	9: 120,387,547 (GRCm39)	Y248C	probably damaging	Het
Flcn	G	A	11: 59,686,635 (GRCm39)	Q373*	probably null	Het
Fry	T	C	5: 150,358,241 (GRCm39)	V1908A	probably damaging	Het
Gabrg3	A	T	7: 57,031,365 (GRCm39)	Y58*	probably null	Het
Gabrp	A	T	11: 33,502,614 (GRCm39)	Y417N	probably damaging	Het
Golga2	C	A	2: 32,194,964 (GRCm39)		probably null	Het
Grip2	C	A	6: 91,750,773 (GRCm39)		probably null	Het
Gsx2	A	G	5: 75,237,729 (GRCm39)	Y227C	probably damaging	Het
H2ac1	T	C	13: 24,118,632 (GRCm39)	V63A	probably benign	Het
Hif3a	T	C	7: 16,769,793 (GRCm39)	*665W	probably null	Het
Hsd3b1	C	A	3: 98,760,089 (GRCm39)	V301L	probably damaging	Het
Ifitm5	T	C	7: 140,529,921 (GRCm39)		probably benign	Het
Inpp4a	A	T	1: 37,418,067 (GRCm39)	D498V	probably damaging	Het
Itga1	A	T	13: 115,128,995 (GRCm39)	D554E	probably benign	Het
Kdm3b	T	A	18: 34,928,716 (GRCm39)		probably benign	Het
Klhl6	A	G	16: 19,766,984 (GRCm39)	V470A	probably benign	Het
Lamb3	T	A	1: 193,002,839 (GRCm39)	W95R	probably damaging	Het
Lbhd2	T	A	12: 111,376,676 (GRCm39)	I41N	probably damaging	Het
Lrp4	A	T	2: 91,321,015 (GRCm39)	S1014C	probably damaging	Het
Ltbp2	C	T	12: 84,832,743 (GRCm39)		probably null	Het
Map3k19	A	G	1: 127,749,919 (GRCm39)	I1144T	possibly damaging	Het
Mfsd10	T	C	5: 34,792,507 (GRCm39)		probably benign	Het
Mocos	A	G	18: 24,799,333 (GRCm39)	D189G	probably benign	Het
Mvb12a	T	A	8: 71,999,654 (GRCm39)	F224L	probably damaging	Het
Myo15a	A	T	11: 60,405,723 (GRCm39)		probably null	Het
Nos2	A	T	11: 78,828,428 (GRCm39)	H249L	probably damaging	Het
Notum	A	G	11: 120,549,160 (GRCm39)	M184T	probably benign	Het
Nvl	C	A	1: 180,962,395 (GRCm39)	D192Y	probably damaging	Het
Or10j3	A	G	1: 173,031,484 (GRCm39)	K187R	probably benign	Het
Or4f57	T	C	2: 111,790,839 (GRCm39)	Y193C	probably damaging	Het
Or5ac22	A	T	16: 59,135,434 (GRCm39)	F112Y	probably damaging	Het
Or5m12	T	A	2: 85,734,591 (GRCm39)	N269I	probably benign	Het
Or8k27	C	A	2: 86,276,303 (GRCm39)	V8L	probably benign	Het
Osgin1	A	G	8: 120,172,396 (GRCm39)	I397V	possibly damaging	Het
Otulin	A	G	15: 27,616,510 (GRCm39)	V123A	probably damaging	Het
P4ha1	A	G	10: 59,184,081 (GRCm39)	Y181C	probably damaging	Het
Pcdhgc5	A	T	18: 37,954,403 (GRCm39)	D559V	probably damaging	Het
Phf2	T	C	13: 48,982,270 (GRCm39)	N151S	unknown	Het
Plxnc1	C	A	10: 94,648,991 (GRCm39)	G1263C	probably benign	Het
Rad51ap1	A	G	6: 126,901,160 (GRCm39)	*338Q	probably null	Het
Raver1	A	G	9: 20,986,955 (GRCm39)	S676P	probably benign	Het
Rfx8	T	C	1: 39,727,737 (GRCm39)	E196G	possibly damaging	Het
Rreb1	A	T	13: 38,100,131 (GRCm39)	K187*	probably null	Het
Rxfp1	T	C	3: 79,574,961 (GRCm39)	T217A	probably benign	Het
Rxra	T	C	2: 27,642,442 (GRCm39)	L305P	probably damaging	Het
Sardh	T	C	2: 27,117,078 (GRCm39)		probably benign	Het
Skor2	A	T	18: 76,964,293 (GRCm39)	E952D	probably damaging	Het
Slc22a29	A	T	19: 8,147,334 (GRCm39)	S343T	probably benign	Het
Sorbs2	T	C	8: 46,238,374 (GRCm39)		probably benign	Het
Supt7l	C	T	5: 31,673,262 (GRCm39)	V329I	probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tac1	T	C	6: 7,559,165 (GRCm39)		probably benign	Het
Tcn2	A	T	11: 3,872,044 (GRCm39)	V361D	probably damaging	Het
Tm2d3	G	A	7: 65,347,582 (GRCm39)	A170T	possibly damaging	Het
Tnks	G	A	8: 35,307,124 (GRCm39)	R1142*	probably null	Het
Ttll7	C	A	3: 146,649,915 (GRCm39)	Y648*	probably null	Het
Umod	G	T	7: 119,065,296 (GRCm39)	Q578K	probably benign	Het
Upf2	G	A	2: 6,032,015 (GRCm39)		probably benign	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Washc5	A	G	15: 59,210,809 (GRCm39)	I1013T	probably benign	Het
Zfp704	C	A	3: 9,630,217 (GRCm39)	R48L	probably 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
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
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

Posted On

2014-01-10