Incidental Mutation 'IGL02505:Tec'
ID 296264
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tec
Ensembl Gene ENSMUSG00000029217
Gene Name tec protein tyrosine kinase
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL02505
Quality Score
Status
Chromosome 5
Chromosomal Location 72913059-73025826 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72946587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 47 (K47E)
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: K47E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000071836
Gene: ENSMUSG00000029217
AA Change: K47E

DomainStartEndE-ValueType
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: K47E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000073509
Gene: ENSMUSG00000029217
AA Change: K47E

DomainStartEndE-ValueType
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: K47E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109224
Gene: ENSMUSG00000029217
AA Change: K47E

DomainStartEndE-ValueType
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: K47E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123606
Gene: ENSMUSG00000029217
AA Change: K47E

DomainStartEndE-ValueType
PH 5 113 2.13e-17 SMART
BTK 113 149 1.79e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000138842
AA Change: K47E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120155
Gene: ENSMUSG00000029217
AA Change: K47E

DomainStartEndE-ValueType
Pfam:PH 5 98 1.6e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000149533
AA Change: K47E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123258
Gene: ENSMUSG00000029217
AA Change: K47E

DomainStartEndE-ValueType
Pfam:PH 5 98 1.6e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155342
SMART Domains Protein: ENSMUSP00000118980
Gene: ENSMUSG00000029217

DomainStartEndE-ValueType
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab C A 9: 63,524,096 (GRCm39) L68M probably damaging Het
Abca13 T G 11: 9,531,498 (GRCm39) L4575W probably damaging Het
Abcb11 A T 2: 69,076,105 (GRCm39) V1201D probably damaging Het
Aldoa G T 7: 126,395,166 (GRCm39) A252E probably damaging Het
Ap1b1 C T 11: 4,981,700 (GRCm39) A536V probably benign Het
Arhgef3 A G 14: 27,115,957 (GRCm39) H233R possibly damaging Het
Arhgef40 A T 14: 52,238,320 (GRCm39) E1266D probably damaging Het
Atp1a4 C T 1: 172,062,642 (GRCm39) V622M probably damaging Het
Aup1 A G 6: 83,032,258 (GRCm39) T142A probably benign Het
Bcl6 A T 16: 23,796,319 (GRCm39) I36N probably damaging Het
Best1 A G 19: 9,966,514 (GRCm39) S358P probably damaging Het
Cadps T G 14: 12,449,759 (GRCm38) Q1150P probably damaging Het
Capn5 T A 7: 97,780,403 (GRCm39) E322D possibly damaging Het
Cd300ld2 A T 11: 114,904,513 (GRCm39) M118K probably benign Het
Cdh9 T C 15: 16,856,075 (GRCm39) L705P probably damaging Het
Cep170b T G 12: 112,709,504 (GRCm39) N436K probably damaging Het
Chil6 T A 3: 106,313,278 (GRCm39) I24F probably benign Het
Chmp2a T A 7: 12,767,782 (GRCm39) K48* probably null Het
Col19a1 C T 1: 24,339,665 (GRCm39) probably benign Het
Cops7b C A 1: 86,520,043 (GRCm39) Q65K probably benign Het
Cyp2e1 T A 7: 140,349,069 (GRCm39) L133H probably damaging Het
Dkc1 T C X: 74,152,339 (GRCm39) probably benign Het
Erlec1 A G 11: 30,900,767 (GRCm39) Y134H probably damaging Het
F8 C A X: 74,423,204 (GRCm39) probably benign Het
Fus G A 7: 127,580,679 (GRCm39) R252Q possibly damaging Het
Fzd3 A T 14: 65,490,555 (GRCm39) D9E probably benign Het
Gm15821 T C 17: 34,433,259 (GRCm39) probably benign Het
Gm5117 C A 8: 32,228,344 (GRCm39) noncoding transcript Het
H2-Q6 A G 17: 35,644,152 (GRCm39) I45V probably benign Het
Hectd1 A G 12: 51,847,496 (GRCm39) probably null Het
Ifi204 T C 1: 173,583,220 (GRCm39) K333E probably benign Het
Ildr1 G A 16: 36,536,526 (GRCm39) G185D probably damaging Het
Itgb2 G A 10: 77,383,052 (GRCm39) D141N probably damaging Het
Kdm1b G T 13: 47,214,331 (GRCm39) D226Y probably damaging Het
Krt77 A G 15: 101,769,381 (GRCm39) L460P probably damaging Het
Lamp3 A G 16: 19,474,207 (GRCm39) I389T possibly damaging Het
Macroh2a1 A G 13: 56,222,143 (GRCm39) V336A probably damaging Het
Mars1 C A 10: 127,140,113 (GRCm39) E414* probably null Het
Mpg T C 11: 32,180,042 (GRCm39) V190A probably damaging Het
Myh15 A G 16: 48,937,626 (GRCm39) I742M possibly damaging Het
Nell2 A T 15: 95,194,144 (GRCm39) probably benign Het
Nmur1 T C 1: 86,314,057 (GRCm39) D370G probably benign Het
Npsr1 A G 9: 24,009,578 (GRCm39) E28G probably benign Het
Or52r1 T C 7: 102,536,814 (GRCm39) E182G probably damaging Het
Or56a3 A T 7: 104,735,540 (GRCm39) I206L probably benign Het
Or7a42 G T 10: 78,791,767 (GRCm39) V243F probably benign Het
Or8b12c G A 9: 37,715,627 (GRCm39) C140Y probably benign Het
Pdzrn3 T C 6: 101,128,899 (GRCm39) N589S possibly damaging Het
Pkd1l3 T C 8: 110,359,848 (GRCm39) L901P probably damaging Het
Plekhg1 G T 10: 3,907,139 (GRCm39) K685N probably damaging Het
Prim1 T A 10: 127,865,652 (GRCm39) *419R probably null Het
Ptk2b G T 14: 66,391,692 (GRCm39) N905K probably damaging Het
Rbm34 T C 8: 127,676,071 (GRCm39) I395V probably benign Het
Rfx1 A G 8: 84,822,438 (GRCm39) E912G possibly damaging Het
Rngtt T C 4: 33,337,936 (GRCm39) V253A possibly damaging Het
Slc2a9 A G 5: 38,594,002 (GRCm39) Y169H possibly damaging Het
Slc49a4 G T 16: 35,555,928 (GRCm39) D177E probably benign Het
Susd4 C A 1: 182,719,645 (GRCm39) T420K probably benign Het
Tdrd3 G A 14: 87,749,118 (GRCm39) G676D probably damaging Het
Tenm2 C A 11: 35,942,743 (GRCm39) G1308* probably null Het
Tmprss15 A T 16: 78,784,629 (GRCm39) D675E probably benign Het
Vmn1r84 A G 7: 12,096,346 (GRCm39) C104R probably damaging Het
Vmn2r49 T A 7: 9,710,378 (GRCm39) M785L probably benign Het
Vmn2r85 G T 10: 130,261,449 (GRCm39) T296K probably damaging Het
Wdr3 C T 3: 100,059,290 (GRCm39) S343N probably benign Het
Yju2 G T 17: 56,269,051 (GRCm39) G53V probably damaging Het
Zfp143 A T 7: 109,690,993 (GRCm39) M515L possibly damaging Het
Zfp735 A G 11: 73,580,626 (GRCm39) I42V probably benign Het
Zswim5 A T 4: 116,819,749 (GRCm39) M385L probably benign Het
Other mutations in Tec
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Tec APN 5 72,926,111 (GRCm39) missense probably damaging 1.00
IGL00980:Tec APN 5 72,944,141 (GRCm39) missense probably damaging 1.00
IGL01986:Tec APN 5 72,939,348 (GRCm39) nonsense probably null
IGL02522:Tec APN 5 72,946,515 (GRCm39) missense probably benign 0.01
IGL02527:Tec APN 5 72,936,758 (GRCm39) splice site probably null
IGL03292:Tec APN 5 72,914,707 (GRCm39) missense probably null 0.98
development UTSW 5 72,939,520 (GRCm39) critical splice acceptor site probably null
technocrat UTSW 5 72,939,355 (GRCm39) missense probably null 0.98
IGL02988:Tec UTSW 5 72,926,090 (GRCm39) missense possibly damaging 0.95
PIT4696001:Tec UTSW 5 72,931,178 (GRCm39) missense possibly damaging 0.73
R0254:Tec UTSW 5 72,941,081 (GRCm39) missense probably benign 0.12
R0254:Tec UTSW 5 72,920,899 (GRCm39) splice site probably benign
R0646:Tec UTSW 5 72,980,840 (GRCm39) missense probably damaging 1.00
R1122:Tec UTSW 5 72,936,792 (GRCm39) missense probably damaging 0.96
R1495:Tec UTSW 5 72,944,098 (GRCm39) missense probably damaging 1.00
R1617:Tec UTSW 5 72,939,448 (GRCm39) missense probably damaging 0.97
R3905:Tec UTSW 5 72,917,705 (GRCm39) missense probably damaging 1.00
R3953:Tec UTSW 5 72,939,520 (GRCm39) critical splice acceptor site probably null
R3954:Tec UTSW 5 72,939,520 (GRCm39) critical splice acceptor site probably null
R3955:Tec UTSW 5 72,939,520 (GRCm39) critical splice acceptor site probably null
R3981:Tec UTSW 5 72,980,942 (GRCm39) utr 5 prime probably benign
R4061:Tec UTSW 5 72,980,752 (GRCm39) unclassified probably benign
R4389:Tec UTSW 5 72,939,350 (GRCm39) missense probably benign
R4507:Tec UTSW 5 72,917,701 (GRCm39) missense probably damaging 1.00
R4689:Tec UTSW 5 72,980,980 (GRCm39) start gained probably benign
R4702:Tec UTSW 5 72,941,074 (GRCm39) missense possibly damaging 0.71
R4776:Tec UTSW 5 72,926,119 (GRCm39) missense probably benign 0.38
R4911:Tec UTSW 5 72,913,694 (GRCm39) missense probably benign 0.05
R4923:Tec UTSW 5 72,939,365 (GRCm39) nonsense probably null
R4932:Tec UTSW 5 72,917,736 (GRCm39) nonsense probably null
R5595:Tec UTSW 5 72,926,087 (GRCm39) missense possibly damaging 0.91
R7211:Tec UTSW 5 72,939,355 (GRCm39) missense probably null 0.98
R7404:Tec UTSW 5 72,920,961 (GRCm39) missense probably damaging 1.00
R7465:Tec UTSW 5 72,931,223 (GRCm39) missense probably damaging 1.00
R7526:Tec UTSW 5 72,943,362 (GRCm39) missense probably benign
R7548:Tec UTSW 5 72,917,693 (GRCm39) missense probably damaging 1.00
R7699:Tec UTSW 5 72,943,367 (GRCm39) missense possibly damaging 0.60
R7700:Tec UTSW 5 72,943,367 (GRCm39) missense possibly damaging 0.60
R8021:Tec UTSW 5 72,914,812 (GRCm39) missense probably benign 0.03
R8217:Tec UTSW 5 72,921,602 (GRCm39) missense probably benign 0.13
R8704:Tec UTSW 5 72,926,105 (GRCm39) missense probably damaging 1.00
R9287:Tec UTSW 5 72,926,117 (GRCm39) missense probably damaging 1.00
R9731:Tec UTSW 5 72,939,439 (GRCm39) missense probably benign 0.01
Z1177:Tec UTSW 5 72,939,358 (GRCm39) missense possibly damaging 0.90
Z1177:Tec UTSW 5 72,926,050 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16