Incidental Mutation 'R7526:Tec'
ID 582982
Institutional Source Beutler Lab
Gene Symbol Tec
Ensembl Gene ENSMUSG00000029217
Gene Name tec protein tyrosine kinase
Synonyms
MMRRC Submission 045598-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R7526 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
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

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 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

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 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

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 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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:PH 5 98 1.6e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149533
SMART Domains Protein: ENSMUSP00000123258
Gene: ENSMUSG00000029217

DomainStartEndE-ValueType
Pfam:PH 5 98 1.6e-10 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000118980
Gene: ENSMUSG00000029217
AA Change: I1V

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700086D15Rik A T 11: 65,152,981 (GRCm38) F85I unknown Het
Ankrd22 A T 19: 34,149,365 (GRCm38) W22R possibly damaging Het
Aqr A T 2: 114,108,109 (GRCm38) H1287Q probably damaging Het
Armh1 C A 4: 117,213,741 (GRCm38) A396S probably benign Het
Atp8b5 A G 4: 43,366,609 (GRCm38) E791G probably damaging Het
Bicd1 T G 6: 149,513,726 (GRCm38) S646A possibly damaging Het
Bmpr1b A T 3: 141,856,599 (GRCm38) Y276N probably damaging Het
Cadps2 T C 6: 23,496,851 (GRCm38) H465R probably damaging Het
Card11 A T 5: 140,913,429 (GRCm38) probably null Het
Ccdc9 A G 7: 16,282,400 (GRCm38) L139P probably damaging Het
Cdk5rap3 A T 11: 96,909,945 (GRCm38) M355K probably benign Het
Cnot2 A T 10: 116,507,080 (GRCm38) V116E probably benign Het
Defb48 A G 14: 62,977,831 (GRCm38) V32A possibly damaging Het
Dmkn A G 7: 30,777,651 (GRCm38) D460G possibly damaging Het
Dmxl2 A G 9: 54,400,957 (GRCm38) V2170A possibly damaging Het
Dnah1 A T 14: 31,287,876 (GRCm38) F1912I possibly damaging Het
Dok3 C T 13: 55,527,493 (GRCm38) V71I probably benign Het
Dzip3 A T 16: 48,975,474 (GRCm38) F178Y probably damaging Het
Enpp1 T C 10: 24,674,410 (GRCm38) probably null Het
Eogt A G 6: 97,113,952 (GRCm38) F409L probably damaging Het
Erich6 A T 3: 58,630,689 (GRCm38) L218H probably damaging Het
Fam186a G C 15: 99,941,915 (GRCm38) I2149M possibly damaging Het
Fat1 G A 8: 45,023,427 (GRCm38) V1837I probably damaging Het
Flrt3 T A 2: 140,660,206 (GRCm38) T501S probably damaging Het
Fmn1 A C 2: 113,688,134 (GRCm38) E1365D probably damaging Het
Fzd5 G T 1: 64,736,092 (GRCm38) P170Q probably benign Het
Gm13101 A T 4: 143,965,817 (GRCm38) C205S probably benign Het
Gm14326 G A 2: 177,946,505 (GRCm38) H233Y probably damaging Het
Gm19410 G A 8: 35,790,612 (GRCm38) V735M probably damaging Het
Gm21886 ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG 18: 80,089,825 (GRCm38) probably benign Het
Gm2832 A T 14: 41,280,962 (GRCm38) I143L Het
Gm7534 T C 4: 134,200,073 (GRCm38) probably null Het
Greb1 G A 12: 16,716,765 (GRCm38) T344I probably benign Het
Grik2 A T 10: 49,523,822 (GRCm38) Y271N possibly damaging Het
Grin3b A G 10: 79,973,051 (GRCm38) N212D probably benign Het
Hgsnat A G 8: 25,971,049 (GRCm38) L187P probably damaging Het
Hmcn1 A G 1: 150,656,573 (GRCm38) I3152T probably damaging Het
Hsp90aa1 A T 12: 110,695,294 (GRCm38) I96N unknown Het
Il18r1 T A 1: 40,471,772 (GRCm38) L6I probably damaging Het
Ing3 G A 6: 21,953,799 (GRCm38) V80I probably damaging Het
Kif18b T C 11: 102,914,667 (GRCm38) I255V probably damaging Het
Kif2c A T 4: 117,182,432 (GRCm38) N20K possibly damaging Het
Mfsd6l T C 11: 68,558,038 (GRCm38) W572R probably damaging Het
Mybphl A G 3: 108,374,180 (GRCm38) T71A probably benign Het
Myo7a G T 7: 98,085,448 (GRCm38) T613K possibly damaging Het
Nfatc3 T C 8: 106,079,083 (GRCm38) S195P probably damaging Het
Nrg1 T C 8: 31,818,323 (GRCm38) N603S probably benign Het
Olfr1054 A T 2: 86,333,353 (GRCm38) M1K probably null Het
Olfr1084 A G 2: 86,639,669 (GRCm38) I13T possibly damaging Het
Olfr629 T C 7: 103,740,400 (GRCm38) Y280C probably damaging Het
Parp8 T C 13: 116,894,805 (GRCm38) E457G probably damaging Het
Pclo T C 5: 14,521,062 (GRCm38) F154L probably benign Het
Pear1 A G 3: 87,752,568 (GRCm38) S704P probably damaging Het
Pkib A G 10: 57,736,298 (GRCm38) T92A probably benign Het
Pnpla7 A G 2: 24,998,666 (GRCm38) R376G possibly damaging Het
Ptprd T A 4: 76,066,327 (GRCm38) E527D probably benign Het
Pum1 T C 4: 130,747,026 (GRCm38) V469A probably damaging Het
Rnf148 G A 6: 23,654,284 (GRCm38) Q238* probably null Het
Scn9a A C 2: 66,483,646 (GRCm38) N1909K probably benign Het
Sema3c A T 5: 17,727,596 (GRCm38) H699L possibly damaging Het
Sema3f A T 9: 107,689,728 (GRCm38) C201S probably damaging Het
Serinc2 T A 4: 130,258,790 (GRCm38) D206V probably benign Het
Serping1 A T 2: 84,767,293 (GRCm38) S415T probably benign Het
Sirpb1b A T 3: 15,548,872 (GRCm38) L50Q probably damaging Het
Slc25a22 T C 7: 141,431,383 (GRCm38) E262G probably benign Het
Slc5a8 A G 10: 88,902,491 (GRCm38) I205M probably damaging Het
Sod2 G T 17: 13,008,031 (GRCm38) probably benign Het
Tenm3 A T 8: 48,287,812 (GRCm38) V1212E probably damaging Het
Tex44 G A 1: 86,426,515 (GRCm38) V49I probably benign Het
Tmem132d A T 5: 127,784,141 (GRCm38) L972* probably null Het
Tpte G A 8: 22,325,547 (GRCm38) probably null Het
Trim6 T A 7: 104,232,832 (GRCm38) I456N probably damaging Het
Ubr4 G C 4: 139,422,417 (GRCm38) V520L probably benign Het
Ubxn8 A T 8: 33,633,607 (GRCm38) N101K probably benign Het
Vmn2r60 AG A 7: 42,195,734 (GRCm38) probably null Het
Vmn2r83 A G 10: 79,491,558 (GRCm38) T667A probably damaging Het
Other mutations in Tec
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Tec APN 5 72,768,768 (GRCm38) missense probably damaging 1.00
IGL00980:Tec APN 5 72,786,798 (GRCm38) missense probably damaging 1.00
IGL01986:Tec APN 5 72,782,005 (GRCm38) nonsense probably null
IGL02505:Tec APN 5 72,789,244 (GRCm38) missense probably damaging 1.00
IGL02522:Tec APN 5 72,789,172 (GRCm38) missense probably benign 0.01
IGL02527:Tec APN 5 72,779,415 (GRCm38) splice site probably null
IGL03292:Tec APN 5 72,757,364 (GRCm38) missense probably null 0.98
development UTSW 5 72,782,177 (GRCm38) critical splice acceptor site probably null
technocrat UTSW 5 72,782,012 (GRCm38) missense probably null 0.98
IGL02988:Tec UTSW 5 72,768,747 (GRCm38) missense possibly damaging 0.95
PIT4696001:Tec UTSW 5 72,773,835 (GRCm38) missense possibly damaging 0.73
R0254:Tec UTSW 5 72,783,738 (GRCm38) missense probably benign 0.12
R0254:Tec UTSW 5 72,763,556 (GRCm38) splice site probably benign
R0646:Tec UTSW 5 72,823,497 (GRCm38) missense probably damaging 1.00
R1122:Tec UTSW 5 72,779,449 (GRCm38) missense probably damaging 0.96
R1495:Tec UTSW 5 72,786,755 (GRCm38) missense probably damaging 1.00
R1617:Tec UTSW 5 72,782,105 (GRCm38) missense probably damaging 0.97
R3905:Tec UTSW 5 72,760,362 (GRCm38) missense probably damaging 1.00
R3953:Tec UTSW 5 72,782,177 (GRCm38) critical splice acceptor site probably null
R3954:Tec UTSW 5 72,782,177 (GRCm38) critical splice acceptor site probably null
R3955:Tec UTSW 5 72,782,177 (GRCm38) critical splice acceptor site probably null
R3981:Tec UTSW 5 72,823,599 (GRCm38) utr 5 prime probably benign
R4061:Tec UTSW 5 72,823,409 (GRCm38) unclassified probably benign
R4389:Tec UTSW 5 72,782,007 (GRCm38) missense probably benign
R4507:Tec UTSW 5 72,760,358 (GRCm38) missense probably damaging 1.00
R4689:Tec UTSW 5 72,823,637 (GRCm38) start gained probably benign
R4702:Tec UTSW 5 72,783,731 (GRCm38) missense possibly damaging 0.71
R4776:Tec UTSW 5 72,768,776 (GRCm38) missense probably benign 0.38
R4911:Tec UTSW 5 72,756,351 (GRCm38) missense probably benign 0.05
R4923:Tec UTSW 5 72,782,022 (GRCm38) nonsense probably null
R4932:Tec UTSW 5 72,760,393 (GRCm38) nonsense probably null
R5595:Tec UTSW 5 72,768,744 (GRCm38) missense possibly damaging 0.91
R7211:Tec UTSW 5 72,782,012 (GRCm38) missense probably null 0.98
R7404:Tec UTSW 5 72,763,618 (GRCm38) missense probably damaging 1.00
R7465:Tec UTSW 5 72,773,880 (GRCm38) missense probably damaging 1.00
R7548:Tec UTSW 5 72,760,350 (GRCm38) missense probably damaging 1.00
R7699:Tec UTSW 5 72,786,024 (GRCm38) missense possibly damaging 0.60
R7700:Tec UTSW 5 72,786,024 (GRCm38) missense possibly damaging 0.60
R8021:Tec UTSW 5 72,757,469 (GRCm38) missense probably benign 0.03
R8217:Tec UTSW 5 72,764,259 (GRCm38) missense probably benign 0.13
R8704:Tec UTSW 5 72,768,762 (GRCm38) missense probably damaging 1.00
R9287:Tec UTSW 5 72,768,774 (GRCm38) missense probably damaging 1.00
R9731:Tec UTSW 5 72,782,096 (GRCm38) missense probably benign 0.01
Z1177:Tec UTSW 5 72,782,015 (GRCm38) missense possibly damaging 0.90
Z1177:Tec UTSW 5 72,768,707 (GRCm38) missense probably damaging 1.00
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