Mutagenetix > Incidental Mutation

Incidental Mutation 'R4792:Itk'

368696

Institutional Source

Beutler Lab

Gene Symbol

Itk

Ensembl Gene

ENSMUSG00000020395

Gene Name

IL2 inducible T cell kinase

Synonyms

Tcsk, Tsk, Emt

MMRRC Submission

042419-MU

Accession Numbers

Essential gene?

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

Stock #

R4792 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46215977-46280342 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 46235658 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

unknown
Transcript: ENSMUST00000101306
AA Change: R262H

SMART Domains

Protein: ENSMUSP00000098864
Gene: ENSMUSG00000020395
AA Change: R262H

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: ENSMUST00000148132

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (89/92)

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
2310061N02Rik	A	G	16: 88,504,651 (GRCm39)	S49P	possibly damaging	Het
Abcb1a	T	C	5: 8,796,657 (GRCm39)		probably null	Het
Adgb	G	A	10: 10,274,647 (GRCm39)	T770I	probably damaging	Het
Adgre4	A	T	17: 56,098,491 (GRCm39)	T134S	probably benign	Het
Aldh1a1	A	G	19: 20,597,349 (GRCm39)	N110S	probably damaging	Het
Alox5	C	A	6: 116,437,964 (GRCm39)	V8L	possibly damaging	Het
Ambra1	A	G	2: 91,603,191 (GRCm39)	T392A	possibly damaging	Het
Apob	A	G	12: 8,058,051 (GRCm39)	I2145V	probably benign	Het
Arhgap39	A	G	15: 76,625,717 (GRCm39)	Y196H	possibly damaging	Het
Armh2	A	G	13: 24,930,490 (GRCm39)		probably benign	Het
Carmil1	A	G	13: 24,251,173 (GRCm39)	L439S	probably damaging	Het
Carmil1	A	T	13: 24,325,659 (GRCm39)	S224T	possibly damaging	Het
Cfh	G	A	1: 140,028,561 (GRCm39)	Q706*	probably null	Het
Chd2	A	C	7: 73,118,325 (GRCm39)	S1098A	probably benign	Het
Chrna5	A	T	9: 54,911,985 (GRCm39)	I158F	probably damaging	Het
Cilk1	A	G	9: 78,060,975 (GRCm39)	D207G	probably damaging	Het
Col6a5	T	C	9: 105,807,983 (GRCm39)	T1022A	unknown	Het
Cul7	T	A	17: 46,967,976 (GRCm39)	Y423*	probably null	Het
Cyp2e1	T	C	7: 140,353,588 (GRCm39)	Y342H	probably benign	Het
D630045J12Rik	T	C	6: 38,125,275 (GRCm39)	K1580E	probably damaging	Het
Dnah6	A	G	6: 73,066,651 (GRCm39)	M2573T	probably damaging	Het
Dnai4	T	C	4: 102,929,881 (GRCm39)	K370R	possibly damaging	Het
Edem1	T	A	6: 108,805,707 (GRCm39)		probably benign	Het
Erp29	C	T	5: 121,585,237 (GRCm39)	E86K	probably benign	Het
Esrp2	C	A	8: 106,859,141 (GRCm39)	R535L	probably damaging	Het
Gabrb2	C	T	11: 42,420,330 (GRCm39)		probably benign	Het
Gpat3	C	T	5: 101,005,039 (GRCm39)	P58L	probably benign	Het
Herc1	T	A	9: 66,403,266 (GRCm39)	V4395E	possibly damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmgb2	G	A	8: 57,966,344 (GRCm39)	C106Y	probably damaging	Het
Hoxa10	T	C	6: 52,209,481 (GRCm39)		probably benign	Het
Hsd3b1	T	A	3: 98,760,226 (GRCm39)	Y255F	probably benign	Het
Ighd	T	C	12: 113,379,819 (GRCm39)	K42E	probably benign	Het
Ighv1-26	T	C	12: 114,752,191 (GRCm39)	Y51C	possibly damaging	Het
Ighv5-2	C	T	12: 113,542,419 (GRCm39)	E19K	possibly damaging	Het
Ipo11	T	C	13: 106,970,668 (GRCm39)		probably benign	Het
Kat6a	T	A	8: 23,430,592 (GRCm39)	H1982Q	unknown	Het
Kdm4d	C	T	9: 14,374,686 (GRCm39)	V391I	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lgr6	T	A	1: 134,949,544 (GRCm39)	S229C	probably benign	Het
Lhx9	T	A	1: 138,766,089 (GRCm39)	Y233F	possibly damaging	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Mapk4	T	C	18: 74,070,321 (GRCm39)	T191A	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naglu	C	T	11: 100,961,932 (GRCm39)	T135M	probably damaging	Het
Nomo1	T	A	7: 45,693,643 (GRCm39)		probably null	Het
Nop56	T	A	2: 130,119,784 (GRCm39)	V75E	possibly damaging	Het
Nr1i3	G	A	1: 171,046,164 (GRCm39)	C283Y	probably damaging	Het
Or4x6	T	A	2: 89,949,174 (GRCm39)	Y256F	possibly damaging	Het
Or51d1	G	A	7: 102,347,933 (GRCm39)	G163R	probably damaging	Het
Or6c38	T	G	10: 128,929,489 (GRCm39)	Y118S	probably damaging	Het
Pcdhga2	A	G	18: 37,802,452 (GRCm39)	S99G	probably benign	Het
Pcnx1	T	A	12: 81,965,925 (GRCm39)	D697E	probably damaging	Het
Plxnb1	G	A	9: 108,939,716 (GRCm39)	D1462N	probably damaging	Het
Pnn	G	T	12: 59,118,991 (GRCm39)	V525F	possibly damaging	Het
Prrc2a	A	T	17: 35,375,463 (GRCm39)	D1062E	probably damaging	Het
Prss35	T	A	9: 86,637,722 (GRCm39)	V164E	probably damaging	Het
Psapl1	T	C	5: 36,362,547 (GRCm39)	S380P	probably benign	Het
Rnf222	A	T	11: 68,783,845 (GRCm39)	E137D	probably damaging	Het
Rsph10b	A	G	5: 143,874,135 (GRCm39)	T79A	probably damaging	Het
Sbf2	T	C	7: 109,950,817 (GRCm39)	Q1164R	probably damaging	Het
Scn7a	T	C	2: 66,556,592 (GRCm39)	D331G	probably damaging	Het
Shtn1	G	C	19: 59,039,305 (GRCm39)	R45G	probably damaging	Het
Sspo	G	A	6: 48,438,519 (GRCm39)	S1529N	probably benign	Het
St8sia3	T	A	18: 64,398,634 (GRCm39)	V31E	probably benign	Het
Sult1b1	A	T	5: 87,662,906 (GRCm39)	W265R	probably damaging	Het
Supt5	G	T	7: 28,015,754 (GRCm39)	Q863K	probably benign	Het
Tbc1d31	A	G	15: 57,804,124 (GRCm39)	R380G	probably benign	Het
Tdpoz1	T	A	3: 93,577,845 (GRCm39)	D313V	possibly damaging	Het
Tmem260	CAGGGACCGGCATAG	CAG	14: 48,749,451 (GRCm39)		probably benign	Het
Tpx2	A	T	2: 152,727,016 (GRCm39)	T428S	probably damaging	Het
Trip11	A	T	12: 101,851,705 (GRCm39)	H786Q	probably benign	Het
Trpc6	A	T	9: 8,626,615 (GRCm39)	M322L	probably benign	Het
Try10	T	C	6: 41,332,386 (GRCm39)	V14A	probably benign	Het
Unc13d	A	T	11: 115,961,108 (GRCm39)	F416L	probably damaging	Het
Vmn2r75	A	T	7: 85,812,378 (GRCm39)	M547K	possibly damaging	Het
Zbp1	A	G	2: 173,051,006 (GRCm39)	F288S	probably damaging	Het
Zc3h11a	T	A	1: 133,568,436 (GRCm39)	Q71L	probably damaging	Het
Zfp40	G	A	17: 23,396,008 (GRCm39)	T193I	possibly damaging	Het
Zfp607a	T	C	7: 27,578,078 (GRCm39)	Y383H	probably benign	Het
Zfp622	T	A	15: 25,987,128 (GRCm39)	Y82*	probably null	Het
Zfp964	T	C	8: 70,116,665 (GRCm39)	F422L	probably benign	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
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

2016-02-04