Incidental Mutation 'R1495:Tec'
ID 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: 0.077) question?
Stock # R1495 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 72913059-73025826 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72944098 bp (GRCm39)
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

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: V103E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073509
Gene: ENSMUSG00000029217
AA Change: V103E

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: V103E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109224
Gene: ENSMUSG00000029217
AA Change: V103E

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: V103E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123606
Gene: ENSMUSG00000029217
AA Change: V103E

DomainStartEndE-ValueType
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

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

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
  • 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,614,356 (GRCm39) N488S probably benign Het
Acot10 G A 15: 20,665,593 (GRCm39) R383C probably damaging Het
Acsm2 A G 7: 119,177,349 (GRCm39) D263G probably damaging Het
Adcy2 G T 13: 68,944,654 (GRCm39) Q243K probably benign Het
Aggf1 G A 13: 95,492,921 (GRCm39) R563* probably null Het
Agt A G 8: 125,286,194 (GRCm39) F296S probably damaging Het
Akap14 T C X: 36,427,618 (GRCm39) D39G possibly damaging Het
Akt3 T C 1: 176,930,608 (GRCm39) M117V probably benign Het
Ankar T C 1: 72,682,450 (GRCm39) T1154A probably benign Het
Arvcf T A 16: 18,207,251 (GRCm39) L70Q probably damaging Het
Ccdc171 A T 4: 83,599,332 (GRCm39) K724* probably null Het
Ccdc91 A G 6: 147,435,670 (GRCm39) T85A possibly damaging Het
Ccdc9b T G 2: 118,591,013 (GRCm39) K173N probably damaging Het
Cdh3 C T 8: 107,265,629 (GRCm39) T224I probably damaging Het
Clstn3 T C 6: 124,426,876 (GRCm39) I482V probably benign Het
Cnot9 A G 1: 74,562,759 (GRCm39) E176G probably damaging Het
Cntnap4 T G 8: 113,608,395 (GRCm39) L1272V possibly damaging Het
Cyb5a T A 18: 84,869,605 (GRCm39) M1K probably null Het
Cyp2c23 A G 19: 43,993,947 (GRCm39) I473T probably benign Het
Dbil5 T A 11: 76,109,276 (GRCm39) M60K probably benign Het
Defa38 T A 8: 21,585,217 (GRCm39) Q75L probably benign Het
Dgkg A T 16: 22,319,129 (GRCm39) L644Q probably damaging Het
Disp3 T C 4: 148,334,282 (GRCm39) I1004V probably benign Het
Egf T A 3: 129,506,655 (GRCm39) I599F probably damaging Het
Epc2 A G 2: 49,426,675 (GRCm39) T145A probably damaging Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,084,988 (GRCm39) probably benign Het
Extl3 A T 14: 65,313,316 (GRCm39) V622E probably benign Het
Fam227a C T 15: 79,510,446 (GRCm39) V403I probably benign Het
Fat2 T A 11: 55,153,499 (GRCm39) D3571V probably benign Het
Fcho2 A G 13: 98,886,358 (GRCm39) probably null Het
Fras1 A G 5: 96,676,445 (GRCm39) N64S possibly damaging Het
Gabbr1 A G 17: 37,366,832 (GRCm39) N352S possibly damaging Het
Gabra1 T C 11: 42,045,771 (GRCm39) N113S probably damaging Het
Glg1 T C 8: 111,924,307 (GRCm39) Y227C probably damaging Het
Gm5141 A T 13: 62,922,084 (GRCm39) C362S probably damaging Het
Gprc6a T A 10: 51,504,533 (GRCm39) T104S probably benign Het
Jph1 A C 1: 17,161,876 (GRCm39) V262G probably benign Het
Kank1 C G 19: 25,387,713 (GRCm39) T434R probably damaging Het
Kmt2e A G 5: 23,704,325 (GRCm39) S1173G possibly damaging Het
Krt75 G A 15: 101,482,308 (GRCm39) probably benign Het
Lyzl1 G T 18: 4,181,192 (GRCm39) W77L probably null Het
Nipbl T G 15: 8,380,764 (GRCm39) N676T probably benign Het
Obscn C T 11: 58,970,986 (GRCm39) S2300N probably damaging Het
Or9a2 T G 6: 41,748,837 (GRCm39) Y132S probably damaging Het
Osbpl1a T A 18: 12,891,896 (GRCm39) M350L probably benign Het
Pecam1 T C 11: 106,579,682 (GRCm39) D460G probably damaging Het
Pik3c2a T A 7: 115,987,300 (GRCm39) K540N probably benign Het
Prdm12 T A 2: 31,530,205 (GRCm39) I32N probably damaging Het
Prkd1 T C 12: 50,413,135 (GRCm39) S679G probably damaging Het
Psen2 C T 1: 180,056,419 (GRCm39) A393T probably damaging Het
Ptprh T A 7: 4,583,888 (GRCm39) T235S probably benign Het
Ranbp3 C T 17: 57,012,527 (GRCm39) P182L probably benign Het
Serpinb7 A T 1: 107,379,390 (GRCm39) K266* probably null Het
Sesn3 T C 9: 14,219,817 (GRCm39) S69P probably damaging Het
Slc12a6 T C 2: 112,184,535 (GRCm39) M818T probably damaging Het
Slc25a53 C A X: 135,916,084 (GRCm39) C4F unknown Het
Snx1 T A 9: 66,003,879 (GRCm39) L255F probably benign Het
Sptbn2 T G 19: 4,769,004 (GRCm39) S46A possibly damaging Het
Taf4 A G 2: 179,574,820 (GRCm39) F595S probably damaging Het
Tmco5b T C 2: 113,121,136 (GRCm39) S147P possibly damaging Het
Uchl5 C T 1: 143,675,675 (GRCm39) T93I possibly damaging Het
Usp14 A T 18: 10,004,994 (GRCm39) S225T probably benign Het
Usp45 C A 4: 21,797,385 (GRCm39) Q238K possibly damaging Het
Vmn1r6 T A 6: 56,980,058 (GRCm39) M218K possibly damaging Het
Zfp84 T A 7: 29,476,728 (GRCm39) Y473* probably null Het
Zyg11b G A 4: 108,123,410 (GRCm39) P186S probably damaging 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
IGL02505:Tec APN 5 72,946,587 (GRCm39) missense probably damaging 1.00
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
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
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