Mutagenetix > Incidental Mutations

Incidental Mutation 'R6235:Itk'

504885

Institutional Source

Beutler Lab

Gene Symbol

Itk

Ensembl Gene

ENSMUSG00000020395

Gene Name

IL2 inducible T cell kinase

Synonyms

Emt, Tsk, Tcsk

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R6235 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46325150-46389515 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46336428 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 456 (E456G)

Ref Sequence

ENSEMBL: ENSMUSP00000020664 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000020664
AA Change: E456G

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000020664
Gene: ENSMUSG00000020395
AA Change: E456G

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: ENSMUST00000109237
AA Change: E462G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000104860
Gene: ENSMUSG00000020395
AA Change: E462G

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

Meta Mutation Damage Score

0.0815

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

95% (73/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	C	12: 113,491,710	F716L	probably benign	Het
Akip1	A	G	7: 109,707,413	M106V	probably benign	Het
Aldh1l1	A	T	6: 90,564,457	I278F	probably benign	Het
Aplnr	A	G	2: 85,137,626	T332A	probably benign	Het
Aqp4	A	G	18: 15,398,113	V197A	probably damaging	Het
Arid4a	A	T	12: 71,069,772		probably null	Het
Baiap2	A	T	11: 119,981,408	N99Y	probably damaging	Het
Ceacam1	A	T	7: 25,471,792		probably null	Het
Cep78	T	C	19: 15,976,486		probably null	Het
Cldn3	T	C	5: 134,986,719	F92S	possibly damaging	Het
Clec16a	C	A	16: 10,694,635	P812Q	probably damaging	Het
Cnga4	T	G	7: 105,407,699	Y336*	probably null	Het
Copg2	A	G	6: 30,816,071	I443T	probably damaging	Het
Crhbp	C	A	13: 95,443,850	A81S	probably damaging	Het
Csad	A	T	15: 102,178,606	V410D	probably damaging	Het
Ctps	G	A	4: 120,558,806	L207F	probably benign	Het
Dab2ip	A	G	2: 35,723,087	E1003G	probably damaging	Het
Ddx31	C	G	2: 28,844,842	A5G	probably benign	Het
Dnah12	A	T	14: 26,854,804	I3004F	probably damaging	Het
Fbxo15	A	G	18: 84,980,904		probably benign	Het
Fbxw28	C	A	9: 109,326,190	W356C	probably damaging	Het
Gimap6	G	T	6: 48,702,457	T215K	probably benign	Het
Gm5346	T	G	8: 43,625,912	N425T	probably benign	Het
Hspa4	C	T	11: 53,262,939	E702K	probably benign	Het
Hunk	A	G	16: 90,432,706	I152V	probably damaging	Het
Krt40	G	A	11: 99,543,094	A22V	possibly damaging	Het
Lars2	T	C	9: 123,411,880	V204A	probably damaging	Het
Lipo1	A	G	19: 33,783,563	Y140H	probably damaging	Het
Lrp1	G	A	10: 127,588,177	R809W	probably damaging	Het
Magi3	C	T	3: 104,016,068	G1111D	probably damaging	Het
Mis18bp1	A	T	12: 65,158,408	V47E	probably damaging	Het
Mpdz	T	C	4: 81,385,281	E140G	probably damaging	Het
Myo1d	T	C	11: 80,692,944	I81V	probably benign	Het
Nek10	T	A	14: 14,821,113	Y26*	probably null	Het
Ntng2	C	A	2: 29,227,979	E152D	probably damaging	Het
Olfr1036	T	C	2: 86,075,166	L142P	possibly damaging	Het
Olfr1490	C	A	19: 13,654,781	C117*	probably null	Het
Otud3	A	T	4: 138,901,901	V185D	probably damaging	Het
Parp6	C	T	9: 59,630,815	R248W	probably benign	Het
Pcdhga7	A	G	18: 37,716,430	T497A	probably benign	Het
Ppp1r18	A	G	17: 35,873,877	E140G	probably damaging	Het
Prl3b1	T	C	13: 27,247,945	L151P	probably damaging	Het
Pth1r	C	T	9: 110,722,316	E572K	possibly damaging	Het
Ptprq	T	A	10: 107,635,338	T1401S	possibly damaging	Het
Rad51ap2	A	G	12: 11,457,516	T480A	possibly damaging	Het
Rax	T	A	18: 65,935,161	Q291L	unknown	Het
Reck	T	C	4: 43,937,450	L734P	probably damaging	Het
Rgmb	A	G	17: 15,820,819	F169L	probably damaging	Het
Rhobtb3	T	C	13: 75,892,910	I426M	probably damaging	Het
Ring1	C	A	17: 34,023,306	A76S	probably damaging	Het
Robo3	T	G	9: 37,420,929	Y891S	probably damaging	Het
Rpusd2	A	G	2: 119,034,857	I12V	probably benign	Het
Rragd	T	C	4: 32,995,985	V165A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Homo
Ryr1	G	T	7: 29,116,181	Q95K	probably benign	Het
S1pr4	T	A	10: 81,498,882	N253Y	possibly damaging	Het
Scn3a	A	C	2: 65,461,335	V1689G	probably damaging	Het
Sdhb	A	G	4: 140,973,673	N147D	probably damaging	Het
Sdk1	A	T	5: 142,034,426	H913L	possibly damaging	Het
Serpina3i	T	A	12: 104,266,532	M232K	probably damaging	Het
Sipa1l2	A	T	8: 125,474,871	V646E	probably damaging	Het
Slc38a1	A	T	15: 96,578,792	I396N	probably benign	Het
Slc6a13	A	T	6: 121,302,794	E42D	probably benign	Het
Stard9	G	A	2: 120,713,546	V4442M	probably damaging	Het
Sumo3	T	A	10: 77,616,237		probably benign	Het
Syngap1	A	G	17: 26,958,130	I356V	probably benign	Het
Tcam1	C	T	11: 106,284,054	Q112*	probably null	Het
Tdp2	T	A	13: 24,840,395	L225*	probably null	Het
Tmprss7	A	G	16: 45,658,122	V747A	probably benign	Het
Ugt2b34	T	A	5: 86,906,364	Y186F	probably benign	Het
Usp37	G	T	1: 74,475,133	S293*	probably null	Het
Vmn1r36	A	G	6: 66,716,246	I109T	probably benign	Het
Vsig10l	T	A	7: 43,468,972	V798E	probably benign	Het
Zfp36l1	G	T	12: 80,112,822	C18*	probably null	Het
Zfp959	T	C	17: 55,897,427	Y152H	probably damaging	Het
Zfyve26	A	T	12: 79,249,599	C1949S	probably damaging	Het
Zswim9	T	A	7: 13,261,603	E209V	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCTCTCTCAGACTTGGCAG -3'
(R):5'- AAGTGCCTCTCATCTACCTCAGTG -3'

Sequencing Primer
(F):5'- TTGGCAGAGCTACACTTCAG -3'
(R):5'- CCATCTTATGGTCAGCACTTTTAG -3'

Posted On

2018-02-28