Incidental Mutation 'IGL01986:Tec'
ID181920
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tec
Ensembl Gene ENSMUSG00000029217
Gene Nametec protein tyrosine kinase
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.182) question?
Stock #IGL01986
Quality Score
Status
Chromosome5
Chromosomal Location72755716-72868483 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 72782005 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 222 (Y222*)
Ref Sequence ENSEMBL: ENSMUSP00000109224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071944] [ENSMUST00000073843] [ENSMUST00000113594] [ENSMUST00000126481] [ENSMUST00000138842] [ENSMUST00000149533]
Predicted Effect probably null
Transcript: ENSMUST00000071944
AA Change: Y222*
SMART Domains Protein: ENSMUSP00000071836
Gene: ENSMUSG00000029217
AA Change: Y222*

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 null
Transcript: ENSMUST00000073843
AA Change: Y222*
SMART Domains Protein: ENSMUSP00000073509
Gene: ENSMUSG00000029217
AA Change: Y222*

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 null
Transcript: ENSMUST00000113594
AA Change: Y222*
SMART Domains Protein: ENSMUSP00000109224
Gene: ENSMUSG00000029217
AA Change: Y222*

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
SMART Domains Protein: ENSMUSP00000123606
Gene: ENSMUSG00000029217

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 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A T 2: 152,441,036 I245F possibly damaging Het
Abca3 G A 17: 24,408,114 G1263D probably damaging Het
Arap2 A T 5: 62,621,922 S1442T probably damaging Het
Arl15 C A 13: 113,922,366 S56R possibly damaging Het
C530008M17Rik T A 5: 76,858,610 S939R unknown Het
Ccdc38 A T 10: 93,579,843 N415Y probably damaging Het
Ccny G A 18: 9,377,817 R81C probably damaging Het
Csmd3 T C 15: 47,659,195 T2693A possibly damaging Het
Fancm C T 12: 65,126,655 Q1914* probably null Het
Fuk T C 8: 110,883,257 T1042A probably benign Het
Gm18856 G A 13: 13,964,828 probably benign Het
Gramd1a A T 7: 31,134,009 L610Q possibly damaging Het
Hsd17b4 C A 18: 50,160,126 probably benign Het
Hspa12a A G 19: 58,799,402 S663P probably benign Het
Insr C T 8: 3,158,817 V1215I probably damaging Het
Kdr A G 5: 75,952,859 V783A probably benign Het
Klhl9 T C 4: 88,721,779 D75G probably damaging Het
Lmntd1 A G 6: 145,419,807 S53P probably damaging Het
Lrrc41 T A 4: 116,089,322 F411L probably benign Het
Lyst G A 13: 13,775,627 probably null Het
Mmp17 A G 5: 129,596,628 H257R probably damaging Het
Nkiras1 G A 14: 18,280,071 R154Q probably damaging Het
Olfr1123 A G 2: 87,418,536 I163V probably benign Het
Olfr1182 C T 2: 88,446,495 V148I probably benign Het
Olfr124 A G 17: 37,806,066 K307R probably damaging Het
Olfr285 T C 15: 98,312,779 Y257C probably damaging Het
Pcsk6 G A 7: 65,927,877 R60H probably damaging Het
Polk T C 13: 96,483,823 D623G probably benign Het
Rlf A T 4: 121,148,106 C1226S probably damaging Het
Rpa2 C T 4: 132,771,880 P87S probably benign Het
Rpa2 C T 4: 132,771,881 P87L probably benign Het
Sema5a T C 15: 32,682,360 probably benign Het
Sis A T 3: 72,945,212 M529K probably damaging Het
Sspo T C 6: 48,483,303 M3375T probably benign Het
Syne3 A T 12: 104,968,000 L83Q probably damaging Het
Tfap2d C T 1: 19,119,159 probably benign Het
Trak1 G A 9: 121,472,967 A930T probably benign Het
Ugt2b34 G T 5: 86,901,252 H305N probably benign Het
Vmn2r95 A G 17: 18,440,211 N295S probably benign Het
Other mutations in Tec
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Tec APN 5 72768768 missense probably damaging 1.00
IGL00980:Tec APN 5 72786798 missense probably damaging 1.00
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
IGL02988:Tec UTSW 5 72768747 missense possibly damaging 0.95
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
Posted On2014-05-07