Mutagenetix > Incidental Mutation

Incidental Mutation 'R7356:Itk'

570979

Institutional Source

Beutler Lab

Gene Symbol

Itk

Ensembl Gene

ENSMUSG00000020395

Gene Name

IL2 inducible T cell kinase

Synonyms

Tcsk, Tsk, Emt

MMRRC Submission

045442-MU

Accession Numbers

Essential gene?

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

Stock #

R7356 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46215977-46280342 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 46258659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 81 (Q81P)

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 damaging
Transcript: ENSMUST00000020664
AA Change: Q81P

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

SMART Domains

Protein: ENSMUSP00000020664
Gene: ENSMUSG00000020395
AA Change: Q81P

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: Q81P

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

SMART Domains

Protein: ENSMUSP00000098864
Gene: ENSMUSG00000020395
AA Change: Q81P

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: Q81P

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104860
Gene: ENSMUSG00000020395
AA Change: Q81P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	A	T	4: 49,383,507 (GRCm39)	D15E	probably damaging	Het
Adamts16	G	A	13: 70,984,399 (GRCm39)	T88I	probably benign	Het
Akap6	A	C	12: 52,958,647 (GRCm39)	N801H	probably damaging	Het
Ankfn1	G	T	11: 89,325,599 (GRCm39)	N524K	probably damaging	Het
Ap5s1	A	G	2: 131,054,582 (GRCm39)	N131S	probably damaging	Het
Astn2	A	T	4: 66,103,503 (GRCm39)	D303E	unknown	Het
Babam1	T	C	8: 71,852,208 (GRCm39)	V132A	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	CACTGGTT	CACTGGTTCTATGGTGACTGGTT	3: 95,795,495 (GRCm39)		probably benign	Het
BC028528	TCTGTGGTCACTGGT	TCTGTGGTCACTGGTCCTGTGGTCACTGGT	3: 95,795,487 (GRCm39)		probably benign	Het
BC028528	GGTCACTGGTTCTGT	GGTCACTGGTTCTGTAGTCACTGGTTCTGT	3: 95,795,477 (GRCm39)		probably benign	Het
BC028528	GTTCTGTGGTCACTGGTTCTGTGGTCACTG	GTTCTGTGGTCACTGCTTCTGTGGTCACTGGTTCTGTGGTCACTG	3: 95,795,470 (GRCm39)		probably benign	Het
BC028528	TGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCAC	TGGTTCTGTGGTCACGGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCAC	3: 95,795,453 (GRCm39)		probably benign	Het
Cnst	C	T	1: 179,434,095 (GRCm39)	P304S	probably benign	Het
Cog4	A	T	8: 111,576,498 (GRCm39)		probably null	Het
Cyp2j13	A	T	4: 95,965,655 (GRCm39)	H17Q	probably benign	Het
Dock6	G	A	9: 21,721,195 (GRCm39)	T1662I	probably damaging	Het
Dysf	T	C	6: 84,044,443 (GRCm39)	F270S	probably damaging	Het
Erbb4	A	G	1: 68,378,514 (GRCm39)		probably null	Het
Fam120b	A	T	17: 15,627,958 (GRCm39)	Q550L	probably benign	Het
Fam83b	A	T	9: 76,400,135 (GRCm39)	F323I	probably benign	Het
Far1	T	A	7: 113,167,349 (GRCm39)	I478N	possibly damaging	Het
Gdpd5	T	A	7: 99,108,085 (GRCm39)	I554N	probably damaging	Het
Glrx3	T	C	7: 137,054,453 (GRCm39)	S79P	probably damaging	Het
Hltf	T	C	3: 20,163,534 (GRCm39)	I888T	probably damaging	Het
Hpx	A	G	7: 105,240,917 (GRCm39)	V452A	probably damaging	Het
Kdm6b	G	A	11: 69,292,991 (GRCm39)	Q1262*	probably null	Het
Lpcat2	T	C	8: 93,591,611 (GRCm39)	V85A	probably benign	Het
Lrrk2	A	T	15: 91,622,947 (GRCm39)	H1039L	probably benign	Het
Mapk3	T	C	7: 126,360,087 (GRCm39)		probably null	Het
Masp1	A	T	16: 23,288,993 (GRCm39)	N602K	possibly damaging	Het
Myo7a	T	A	7: 97,751,890 (GRCm39)	Q40L	probably benign	Het
Nek1	A	T	8: 61,573,994 (GRCm39)	M1081L	probably benign	Het
Nes	T	C	3: 87,885,058 (GRCm39)	S1106P	possibly damaging	Het
Nkpd1	A	T	7: 19,257,699 (GRCm39)	I493F	probably damaging	Het
Npsr1	C	G	9: 24,009,557 (GRCm39)	S21C	probably benign	Het
Oog1	G	A	12: 87,653,047 (GRCm39)		probably null	Het
Or11g1	G	A	14: 50,651,159 (GRCm39)	V53M	probably damaging	Het
Or5g24-ps1	G	A	2: 85,463,782 (GRCm39)	R3K	probably benign	Het
Or5k8	A	T	16: 58,644,718 (GRCm39)	M118K	probably damaging	Het
Osbpl9	G	T	4: 108,925,677 (GRCm39)	Y340*	probably null	Het
Pcyox1l	A	T	18: 61,840,621 (GRCm39)	L11Q	probably null	Het
Pdxdc1	G	A	16: 13,677,867 (GRCm39)	R255C	probably damaging	Het
Pgap1	A	G	1: 54,569,293 (GRCm39)	S358P	probably benign	Het
Pgm2l1	A	G	7: 99,917,326 (GRCm39)	Y481C	possibly damaging	Het
Plekhf1	T	C	7: 37,921,545 (GRCm39)	T8A	possibly damaging	Het
Plg	G	T	17: 12,629,798 (GRCm39)	G611C	probably damaging	Het
Prf1	A	C	10: 61,139,059 (GRCm39)	D339A	possibly damaging	Het
Prph	A	G	15: 98,954,807 (GRCm39)	Y291C	probably damaging	Het
Rasal1	A	G	5: 120,792,890 (GRCm39)	S48G	possibly damaging	Het
Rigi	A	G	4: 40,226,600 (GRCm39)	S231P	probably benign	Het
Ripk4	T	A	16: 97,544,349 (GRCm39)	Q766L	probably damaging	Het
Scaf1	T	C	7: 44,657,208 (GRCm39)	D557G	unknown	Het
Scaper	A	T	9: 55,799,495 (GRCm39)	M190K	unknown	Het
Scn8a	A	T	15: 100,855,460 (GRCm39)	I202F	probably damaging	Het
Siglecf	A	G	7: 43,005,855 (GRCm39)	I505V	probably benign	Het
Sirpb1c	A	G	3: 15,886,297 (GRCm39)	S360P	probably benign	Het
Sla2	C	A	2: 156,720,623 (GRCm39)		probably null	Het
Slc11a1	G	T	1: 74,424,648 (GRCm39)	V544L	probably benign	Het
Slco1a5	T	A	6: 142,180,458 (GRCm39)	K648I	probably benign	Het
Sorcs1	T	A	19: 50,163,595 (GRCm39)	I1020F	possibly damaging	Het
Spen	C	A	4: 141,199,235 (GRCm39)	E3131*	probably null	Het
Sult2a7	A	T	7: 14,211,031 (GRCm39)	W162R	probably damaging	Het
Sult3a1	G	A	10: 33,742,579 (GRCm39)	E69K	probably benign	Het
Tcof1	G	T	18: 60,951,166 (GRCm39)	D1119E	unknown	Het
Tom1l2	A	T	11: 60,139,853 (GRCm39)	I272K	probably damaging	Het
Tspan5	C	T	3: 138,448,193 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,698,244 (GRCm39)	L186P		Het
Uap1l1	T	C	2: 25,251,696 (GRCm39)	E496G	possibly damaging	Het
Ube2v1	A	T	2: 167,451,115 (GRCm39)	I117N	possibly damaging	Het
Usp42	A	G	5: 143,702,842 (GRCm39)	V593A	possibly damaging	Het
Virma	T	A	4: 11,513,595 (GRCm39)	I483N	probably damaging	Het
Vwde	T	A	6: 13,192,641 (GRCm39)	I421F	probably damaging	Het
Zfp345	G	A	2: 150,314,209 (GRCm39)	H443Y	probably damaging	Het
Zfp760	A	G	17: 21,941,601 (GRCm39)	T259A	probably benign	Het
Zfp941	T	C	7: 140,392,028 (GRCm39)	I444V	possibly damaging	Het
Zfyve9	A	C	4: 108,576,212 (GRCm39)	S290A	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
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
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

PCR Primer
(F):5'- CAAGAATCTATGCCTTTGTGGAATG -3'
(R):5'- CAGCATTAGAGCATCCTCTCC -3'

Sequencing Primer
(F):5'- GCCTTTGTGGAATGAATGAATGAATG -3'
(R):5'- TGTCTCAGTAGTAATTCTCTGGAAAC -3'

Posted On

2019-09-13