Mutagenetix > Incidental Mutation

Incidental Mutation 'R7526:Tec'

582982

Institutional Source

Beutler Lab

Gene Symbol

Tec

Ensembl Gene

ENSMUSG00000029217

Gene Name

tec protein tyrosine kinase

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R7526 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72755716-72868483 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72786019 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 118 (I118V)

Ref Sequence

ENSEMBL: ENSMUSP00000071836 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000071944
AA Change: I118V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071836
Gene: ENSMUSG00000029217
AA Change: I118V

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
AA Change: I118V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000073509
Gene: ENSMUSG00000029217
AA Change: I118V

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 benign
Transcript: ENSMUST00000113594
AA Change: I118V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109224
Gene: ENSMUSG00000029217
AA Change: I118V

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
AA Change: I118V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123606
Gene: ENSMUSG00000029217
AA Change: I118V

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

SMART Domains

Protein: ENSMUSP00000118980
Gene: ENSMUSG00000029217
AA Change: I1V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	A	T	11: 65,152,981	F85I	unknown	Het
Ankrd22	A	T	19: 34,149,365	W22R	possibly damaging	Het
Aqr	A	T	2: 114,108,109	H1287Q	probably damaging	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Atp8b5	A	G	4: 43,366,609	E791G	probably damaging	Het
Bicd1	T	G	6: 149,513,726	S646A	possibly damaging	Het
Bmpr1b	A	T	3: 141,856,599	Y276N	probably damaging	Het
Cadps2	T	C	6: 23,496,851	H465R	probably damaging	Het
Card11	A	T	5: 140,913,429		probably null	Het
Ccdc9	A	G	7: 16,282,400	L139P	probably damaging	Het
Cdk5rap3	A	T	11: 96,909,945	M355K	probably benign	Het
Cnot2	A	T	10: 116,507,080	V116E	probably benign	Het
Defb48	A	G	14: 62,977,831	V32A	possibly damaging	Het
Dmkn	A	G	7: 30,777,651	D460G	possibly damaging	Het
Dmxl2	A	G	9: 54,400,957	V2170A	possibly damaging	Het
Dnah1	A	T	14: 31,287,876	F1912I	possibly damaging	Het
Dok3	C	T	13: 55,527,493	V71I	probably benign	Het
Dzip3	A	T	16: 48,975,474	F178Y	probably damaging	Het
Enpp1	T	C	10: 24,674,410		probably null	Het
Eogt	A	G	6: 97,113,952	F409L	probably damaging	Het
Erich6	A	T	3: 58,630,689	L218H	probably damaging	Het
Fam186a	G	C	15: 99,941,915	I2149M	possibly damaging	Het
Fat1	G	A	8: 45,023,427	V1837I	probably damaging	Het
Flrt3	T	A	2: 140,660,206	T501S	probably damaging	Het
Fmn1	A	C	2: 113,688,134	E1365D	probably damaging	Het
Fzd5	G	T	1: 64,736,092	P170Q	probably benign	Het
Gm13101	A	T	4: 143,965,817	C205S	probably benign	Het
Gm14326	G	A	2: 177,946,505	H233Y	probably damaging	Het
Gm19410	G	A	8: 35,790,612	V735M	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,089,825		probably benign	Het
Gm2832	A	T	14: 41,280,962	I143L		Het
Gm7534	T	C	4: 134,200,073		probably null	Het
Greb1	G	A	12: 16,716,765	T344I	probably benign	Het
Grik2	A	T	10: 49,523,822	Y271N	possibly damaging	Het
Grin3b	A	G	10: 79,973,051	N212D	probably benign	Het
Hgsnat	A	G	8: 25,971,049	L187P	probably damaging	Het
Hmcn1	A	G	1: 150,656,573	I3152T	probably damaging	Het
Hsp90aa1	A	T	12: 110,695,294	I96N	unknown	Het
Il18r1	T	A	1: 40,471,772	L6I	probably damaging	Het
Ing3	G	A	6: 21,953,799	V80I	probably damaging	Het
Kif18b	T	C	11: 102,914,667	I255V	probably damaging	Het
Kif2c	A	T	4: 117,182,432	N20K	possibly damaging	Het
Mfsd6l	T	C	11: 68,558,038	W572R	probably damaging	Het
Mybphl	A	G	3: 108,374,180	T71A	probably benign	Het
Myo7a	G	T	7: 98,085,448	T613K	possibly damaging	Het
Nfatc3	T	C	8: 106,079,083	S195P	probably damaging	Het
Nrg1	T	C	8: 31,818,323	N603S	probably benign	Het
Olfr1054	A	T	2: 86,333,353	M1K	probably null	Het
Olfr1084	A	G	2: 86,639,669	I13T	possibly damaging	Het
Olfr629	T	C	7: 103,740,400	Y280C	probably damaging	Het
Parp8	T	C	13: 116,894,805	E457G	probably damaging	Het
Pclo	T	C	5: 14,521,062	F154L	probably benign	Het
Pear1	A	G	3: 87,752,568	S704P	probably damaging	Het
Pkib	A	G	10: 57,736,298	T92A	probably benign	Het
Pnpla7	A	G	2: 24,998,666	R376G	possibly damaging	Het
Ptprd	T	A	4: 76,066,327	E527D	probably benign	Het
Pum1	T	C	4: 130,747,026	V469A	probably damaging	Het
Rnf148	G	A	6: 23,654,284	Q238*	probably null	Het
Scn9a	A	C	2: 66,483,646	N1909K	probably benign	Het
Sema3c	A	T	5: 17,727,596	H699L	possibly damaging	Het
Sema3f	A	T	9: 107,689,728	C201S	probably damaging	Het
Serinc2	T	A	4: 130,258,790	D206V	probably benign	Het
Serping1	A	T	2: 84,767,293	S415T	probably benign	Het
Sirpb1b	A	T	3: 15,548,872	L50Q	probably damaging	Het
Slc25a22	T	C	7: 141,431,383	E262G	probably benign	Het
Slc5a8	A	G	10: 88,902,491	I205M	probably damaging	Het
Sod2	G	T	17: 13,008,031		probably benign	Het
Tenm3	A	T	8: 48,287,812	V1212E	probably damaging	Het
Tex44	G	A	1: 86,426,515	V49I	probably benign	Het
Tmem132d	A	T	5: 127,784,141	L972*	probably null	Het
Tpte	G	A	8: 22,325,547		probably null	Het
Trim6	T	A	7: 104,232,832	I456N	probably damaging	Het
Ubr4	G	C	4: 139,422,417	V520L	probably benign	Het
Ubxn8	A	T	8: 33,633,607	N101K	probably benign	Het
Vmn2r60	AG	A	7: 42,195,734		probably null	Het
Vmn2r83	A	G	10: 79,491,558	T667A	probably 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
IGL02527:Tec	APN	5	72779415	splice site	probably null
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
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
R8704:Tec	UTSW	5	72768762	missense	probably damaging	1.00
R9287:Tec	UTSW	5	72768774	missense	probably damaging	1.00
R9731:Tec	UTSW	5	72782096	missense	probably benign	0.01
Z1177:Tec	UTSW	5	72768707	missense	probably damaging	1.00
Z1177:Tec	UTSW	5	72782015	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- GTATCTGCCCTGTAGTGTCC -3'
(R):5'- AGAGAACCATCTAGCTGCTCTG -3'

Sequencing Primer
(F):5'- GCCCTGTAGTGTCCTCCAC -3'
(R):5'- GAACCATCTAGCTGCTCTGAATATTG -3'

Posted On

2019-10-17