Mutagenetix > Incidental Mutation

Incidental Mutation 'R1495:Tec'

168773

Institutional Source

Beutler Lab

Gene Symbol

Tec

Ensembl Gene

ENSMUSG00000029217

Gene Name

tec protein tyrosine kinase

Synonyms

MMRRC Submission

039546-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R1495 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72755716-72868483 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72786755 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 103 (V103E)

Ref Sequence

ENSEMBL: ENSMUSP00000123606 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000071944
AA Change: V103E

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

SMART Domains

Protein: ENSMUSP00000071836
Gene: ENSMUSG00000029217
AA Change: V103E

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 damaging
Transcript: ENSMUST00000073843
AA Change: V103E

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

SMART Domains

Protein: ENSMUSP00000073509
Gene: ENSMUSG00000029217
AA Change: V103E

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 damaging
Transcript: ENSMUST00000113594
AA Change: V103E

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

SMART Domains

Protein: ENSMUSP00000109224
Gene: ENSMUSG00000029217
AA Change: V103E

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 damaging
Transcript: ENSMUST00000126481
AA Change: V103E

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

SMART Domains

Protein: ENSMUSP00000123606
Gene: ENSMUSG00000029217
AA Change: V103E

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

Predicted Effect

silent
Transcript: ENSMUST00000138842

SMART Domains

Protein: ENSMUSP00000120155
Gene: ENSMUSG00000029217

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

Predicted Effect

silent
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

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,477,820	N488S	probably benign	Het
A430105I19Rik	T	G	2: 118,760,532	K173N	probably damaging	Het
Acot10	G	A	15: 20,665,507	R383C	probably damaging	Het
Acsm2	A	G	7: 119,578,126	D263G	probably damaging	Het
Adcy2	G	T	13: 68,796,535	Q243K	probably benign	Het
Aggf1	G	A	13: 95,356,413	R563*	probably null	Het
Agt	A	G	8: 124,559,455	F296S	probably damaging	Het
Akap14	T	C	X: 37,163,965	D39G	possibly damaging	Het
Akt3	T	C	1: 177,103,042	M117V	probably benign	Het
Ankar	T	C	1: 72,643,291	T1154A	probably benign	Het
Arvcf	T	A	16: 18,389,386	L70Q	probably damaging	Het
Ccdc171	A	T	4: 83,681,095	K724*	probably null	Het
Ccdc91	A	G	6: 147,534,172	T85A	possibly damaging	Het
Cdh3	C	T	8: 106,538,997	T224I	probably damaging	Het
Clstn3	T	C	6: 124,449,917	I482V	probably benign	Het
Cnot9	A	G	1: 74,523,600	E176G	probably damaging	Het
Cntnap4	T	G	8: 112,881,763	L1272V	possibly damaging	Het
Cyb5a	T	A	18: 84,851,480	M1K	probably null	Het
Cyp2c23	A	G	19: 44,005,508	I473T	probably benign	Het
Dbil5	T	A	11: 76,218,450	M60K	probably benign	Het
Dgkg	A	T	16: 22,500,379	L644Q	probably damaging	Het
Disp3	T	C	4: 148,249,825	I1004V	probably benign	Het
Egf	T	A	3: 129,713,006	I599F	probably damaging	Het
Epc2	A	G	2: 49,536,663	T145A	probably damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,357,677		probably benign	Het
Extl3	A	T	14: 65,075,867	V622E	probably benign	Het
Fam227a	C	T	15: 79,626,245	V403I	probably benign	Het
Fat2	T	A	11: 55,262,673	D3571V	probably benign	Het
Fcho2	A	G	13: 98,749,850		probably null	Het
Fras1	A	G	5: 96,528,586	N64S	possibly damaging	Het
Gabbr1	A	G	17: 37,055,940	N352S	possibly damaging	Het
Gabra1	T	C	11: 42,154,944	N113S	probably damaging	Het
Glg1	T	C	8: 111,197,675	Y227C	probably damaging	Het
Gm14851	T	A	8: 21,095,201	Q75L	probably benign	Het
Gm5141	A	T	13: 62,774,270	C362S	probably damaging	Het
Gprc6a	T	A	10: 51,628,437	T104S	probably benign	Het
Jph1	A	C	1: 17,091,652	V262G	probably benign	Het
Kank1	C	G	19: 25,410,349	T434R	probably damaging	Het
Kmt2e	A	G	5: 23,499,327	S1173G	possibly damaging	Het
Krt75	G	A	15: 101,573,873		probably benign	Het
Lyzl1	G	T	18: 4,181,192	W77L	probably null	Het
Nipbl	T	G	15: 8,351,280	N676T	probably benign	Het
Obscn	C	T	11: 59,080,160	S2300N	probably damaging	Het
Olfr459	T	G	6: 41,771,903	Y132S	probably damaging	Het
Osbpl1a	T	A	18: 12,758,839	M350L	probably benign	Het
Pecam1	T	C	11: 106,688,856	D460G	probably damaging	Het
Pik3c2a	T	A	7: 116,388,065	K540N	probably benign	Het
Prdm12	T	A	2: 31,640,193	I32N	probably damaging	Het
Prkd1	T	C	12: 50,366,352	S679G	probably damaging	Het
Psen2	C	T	1: 180,228,854	A393T	probably damaging	Het
Ptprh	T	A	7: 4,580,889	T235S	probably benign	Het
Ranbp3	C	T	17: 56,705,527	P182L	probably benign	Het
Serpinb7	A	T	1: 107,451,660	K266*	probably null	Het
Sesn3	T	C	9: 14,308,521	S69P	probably damaging	Het
Slc12a6	T	C	2: 112,354,190	M818T	probably damaging	Het
Slc25a53	C	A	X: 137,015,335	C4F	unknown	Het
Snx1	T	A	9: 66,096,597	L255F	probably benign	Het
Sptbn2	T	G	19: 4,718,976	S46A	possibly damaging	Het
Taf4	A	G	2: 179,933,027	F595S	probably damaging	Het
Tmco5b	T	C	2: 113,290,791	S147P	possibly damaging	Het
Uchl5	C	T	1: 143,799,937	T93I	possibly damaging	Het
Usp14	A	T	18: 10,004,994	S225T	probably benign	Het
Usp45	C	A	4: 21,797,385	Q238K	possibly damaging	Het
Vmn1r6	T	A	6: 57,003,073	M218K	possibly damaging	Het
Zfp84	T	A	7: 29,777,303	Y473*	probably null	Het
Zyg11b	G	A	4: 108,266,213	P186S	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
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
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'- TCCACACCAAGTGTTTCACACAGG -3'
(R):5'- ACTGGGATTGTTTACAGCCATCCAAG -3'

Sequencing Primer
(F):5'- TCACTTACAAGGAGTGACTGTCC -3'
(R):5'- CCAAGAATAGTTTACTGATGCCTGC -3'

Posted On

2014-04-13