Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02527:Tec'

297169

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tec

Ensembl Gene

ENSMUSG00000029217

Gene Name

tec protein tyrosine kinase

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL02527

Quality Score

Status

Chromosome

Chromosomal Location

72755716-72868483 bp(-) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 72779415 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071944] [ENSMUST00000073843] [ENSMUST00000113594] [ENSMUST00000126481] [ENSMUST00000138842] [ENSMUST00000149533]

Predicted Effect

probably null
Transcript: ENSMUST00000071944

SMART Domains

Protein: ENSMUSP00000071836
Gene: ENSMUSG00000029217

Domain	Start	End	E-Value	Type
PH	5	113	2.13e-17	SMART
BTK	113	149	1.79e-21	SMART
low complexity region	158	177	N/A	INTRINSIC
SH3	181	237	7.06e-17	SMART
SH2	244	335	4.05e-28	SMART
TyrKc	369	618	2.13e-132	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000073843

SMART Domains

Protein: ENSMUSP00000073509
Gene: ENSMUSG00000029217

Domain	Start	End	E-Value	Type
PH	5	113	2.13e-17	SMART
BTK	113	149	1.79e-21	SMART
low complexity region	158	177	N/A	INTRINSIC
SH3	181	230	2.85e-3	SMART
SH2	222	313	9.96e-28	SMART
TyrKc	347	596	2.13e-132	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000113594

SMART Domains

Protein: ENSMUSP00000109224
Gene: ENSMUSG00000029217

Domain	Start	End	E-Value	Type
PH	5	113	2.13e-17	SMART
BTK	113	149	1.79e-21	SMART
low complexity region	158	177	N/A	INTRINSIC
SH3	181	237	7.06e-17	SMART
SH2	244	335	4.05e-28	SMART
TyrKc	369	618	2.13e-132	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126481

SMART Domains

Protein: ENSMUSP00000123606
Gene: ENSMUSG00000029217

Domain	Start	End	E-Value	Type
PH	5	113	2.13e-17	SMART
BTK	113	149	1.79e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138842

SMART Domains

Protein: ENSMUSP00000120155
Gene: ENSMUSG00000029217

Domain	Start	End	E-Value	Type
Pfam:PH	5	98	1.6e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149533

SMART Domains

Protein: ENSMUSP00000123258
Gene: ENSMUSG00000029217

Domain	Start	End	E-Value	Type
Pfam:PH	5	98	1.6e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155342

SMART Domains

Protein: ENSMUSP00000118980
Gene: ENSMUSG00000029217

Domain	Start	End	E-Value	Type
BTK	2	33	8.62e-15	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Tec family of non-receptor protein-tyrosine kinases containing a pleckstrin homology domain. Tec family kinases are involved in the intracellular signaling mechanisms of cytokine receptors, lymphocyte surface antigens, heterotrimeric G-protein coupled receptors, and integrin molecules. They are also key players in the regulation of the immune functions. Tec kinase is an integral component of T cell signaling and has a distinct role in T cell activation. This gene may be associated with myelodysplastic syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a minor reduction in platetet aggregation in response to threshold concentrations of collagen-related peptide or collagen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,661,433	V868A	probably damaging	Het
Adam25	T	A	8: 40,753,748	I17K	possibly damaging	Het
Arap2	A	T	5: 62,749,307	M123K	probably benign	Het
Asic3	A	G	5: 24,416,277	M332V	probably benign	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
BC017158	T	A	7: 128,276,231	T317S	possibly damaging	Het
Cand1	A	T	10: 119,206,807	M1126K	probably damaging	Het
Capn3	A	G	2: 120,504,485	T818A	probably damaging	Het
Cda	G	A	4: 138,343,521	Q104*	probably null	Het
Cpeb1	T	C	7: 81,359,887	D234G	probably damaging	Het
Cpq	A	G	15: 33,302,363	Y220C	probably damaging	Het
Diaph3	T	C	14: 86,810,359	K1026R	possibly damaging	Het
Dpep1	T	C	8: 123,198,748	F47L	probably damaging	Het
Dppa4	G	T	16: 48,289,093	R66L	possibly damaging	Het
Elac1	C	A	18: 73,747,233	E31*	probably null	Het
Fggy	A	G	4: 95,697,069	K62E	probably damaging	Het
Ficd	T	A	5: 113,736,966	M32K	probably benign	Het
Foxd4	A	G	19: 24,899,814	S341P	probably benign	Het
Gm4788	T	C	1: 139,753,045	N245S	probably damaging	Het
Gnb4	G	T	3: 32,589,866	T181K	probably benign	Het
Grin2b	T	A	6: 135,923,391	Y164F	probably damaging	Het
Hmmr	A	G	11: 40,708,105	L564P	probably damaging	Het
Hsd17b4	G	A	18: 50,160,164	V257I	probably benign	Het
Itga10	C	A	3: 96,655,624		probably benign	Het
Kcnk18	T	C	19: 59,235,275	V284A	probably damaging	Het
Klf11	T	A	12: 24,655,323	S259T	probably benign	Het
Kmt2d	C	T	15: 98,841,747		probably benign	Het
Manea	A	G	4: 26,336,619		probably null	Het
Mybl1	T	C	1: 9,690,148	H75R	probably damaging	Het
Neb	G	A	2: 52,263,947	T2384M	probably damaging	Het
Neb	A	G	2: 52,149,213	I6938T	probably benign	Het
Ntrk3	T	C	7: 78,451,949	D412G	probably benign	Het
Olah	T	C	2: 3,342,942	E211G	probably damaging	Het
Olfr1123	T	C	2: 87,418,837	L261S	probably damaging	Het
Paxbp1	A	T	16: 91,037,273	N208K	possibly damaging	Het
Prrc1	T	A	18: 57,389,347	M417K	probably benign	Het
Ptprq	G	A	10: 107,686,563	T543M	probably benign	Het
Rasal1	T	C	5: 120,666,404	V447A	probably damaging	Het
Rbl1	T	C	2: 157,194,048	E287G	probably benign	Het
Tex26	A	G	5: 149,456,942	D61G	probably damaging	Het
Tgfb1i1	G	A	7: 128,252,562		probably benign	Het
Tmem132c	T	C	5: 127,359,611	Y55H	possibly damaging	Het
Tmem63a	T	A	1: 180,952,974		probably null	Het
Umod	C	T	7: 119,469,467	G452D	probably damaging	Het
Vcan	G	A	13: 89,690,657	T2256I	possibly damaging	Het
Vmn1r31	A	T	6: 58,472,793	I29K	probably benign	Het
Vmn2r117	A	G	17: 23,477,225	Y403H	possibly damaging	Het
Vmn2r124	A	T	17: 18,066,502		probably null	Het
Vmn2r65	T	A	7: 84,946,516	K320M	possibly damaging	Het

Other mutations in Tec

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Tec	APN	5	72768768	missense	probably damaging	1.00
IGL00980:Tec	APN	5	72786798	missense	probably damaging	1.00
IGL01986:Tec	APN	5	72782005	nonsense	probably null
IGL02505:Tec	APN	5	72789244	missense	probably damaging	1.00
IGL02522:Tec	APN	5	72789172	missense	probably benign	0.01
IGL03292:Tec	APN	5	72757364	missense	probably null	0.98
development	UTSW	5	72782177	critical splice acceptor site	probably null
technocrat	UTSW	5	72782012	missense	probably null	0.98
IGL02988:Tec	UTSW	5	72768747	missense	possibly damaging	0.95
PIT4696001:Tec	UTSW	5	72773835	missense	possibly damaging	0.73
R0254:Tec	UTSW	5	72763556	splice site	probably benign
R0254:Tec	UTSW	5	72783738	missense	probably benign	0.12
R0646:Tec	UTSW	5	72823497	missense	probably damaging	1.00
R1122:Tec	UTSW	5	72779449	missense	probably damaging	0.96
R1495:Tec	UTSW	5	72786755	missense	probably damaging	1.00
R1617:Tec	UTSW	5	72782105	missense	probably damaging	0.97
R3905:Tec	UTSW	5	72760362	missense	probably damaging	1.00
R3953:Tec	UTSW	5	72782177	critical splice acceptor site	probably null
R3954:Tec	UTSW	5	72782177	critical splice acceptor site	probably null
R3955:Tec	UTSW	5	72782177	critical splice acceptor site	probably null
R3981:Tec	UTSW	5	72823599	utr 5 prime	probably benign
R4061:Tec	UTSW	5	72823409	unclassified	probably benign
R4389:Tec	UTSW	5	72782007	missense	probably benign
R4507:Tec	UTSW	5	72760358	missense	probably damaging	1.00
R4689:Tec	UTSW	5	72823637	start gained	probably benign
R4702:Tec	UTSW	5	72783731	missense	possibly damaging	0.71
R4776:Tec	UTSW	5	72768776	missense	probably benign	0.38
R4911:Tec	UTSW	5	72756351	missense	probably benign	0.05
R4923:Tec	UTSW	5	72782022	nonsense	probably null
R4932:Tec	UTSW	5	72760393	nonsense	probably null
R5595:Tec	UTSW	5	72768744	missense	possibly damaging	0.91
R7211:Tec	UTSW	5	72782012	missense	probably null	0.98
R7404:Tec	UTSW	5	72763618	missense	probably damaging	1.00
R7465:Tec	UTSW	5	72773880	missense	probably damaging	1.00
R7526:Tec	UTSW	5	72786019	missense	probably benign
R7548:Tec	UTSW	5	72760350	missense	probably damaging	1.00
R7699:Tec	UTSW	5	72786024	missense	possibly damaging	0.60
R7700:Tec	UTSW	5	72786024	missense	possibly damaging	0.60
R8021:Tec	UTSW	5	72757469	missense	probably benign	0.03
R8217:Tec	UTSW	5	72764259	missense	probably benign	0.13
Z1177:Tec	UTSW	5	72768707	missense	probably damaging	1.00
Z1177:Tec	UTSW	5	72782015	missense	possibly damaging	0.90

Posted On

2015-04-16