Incidental Mutation 'R7942:Tek'
ID 656371
Institutional Source Beutler Lab
Gene Symbol Tek
Ensembl Gene ENSMUSG00000006386
Gene Name TEK receptor tyrosine kinase
Synonyms Cd202b, Tie2, tie-2, Hyk
MMRRC Submission 045988-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7942 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 94627526-94763213 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 94740111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000071162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071168] [ENSMUST00000073939] [ENSMUST00000102798]
AlphaFold Q02858
Predicted Effect probably null
Transcript: ENSMUST00000071168
SMART Domains Protein: ENSMUSP00000071162
Gene: ENSMUSG00000006386

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Ig_Tie2_1 23 118 1.2e-57 PFAM
IG_like 128 209 6.52e0 SMART
EGF_Lam 227 264 1.26e-2 SMART
EGF 267 299 2.2e1 SMART
internal_repeat_1 302 346 4.35e-7 PROSPERO
IG_like 356 442 3.29e1 SMART
FN3 445 526 2.11e0 SMART
FN3 541 624 9.77e-5 SMART
FN3 638 720 1.18e-12 SMART
transmembrane domain 747 769 N/A INTRINSIC
TyrKc 822 1090 1.9e-138 SMART
Predicted Effect silent
Transcript: ENSMUST00000073939
SMART Domains Protein: ENSMUSP00000073595
Gene: ENSMUSG00000006386

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Ig_Tie2_1 23 118 7.1e-58 PFAM
EGF_Lam 176 213 1.26e-2 SMART
EGF 216 248 2.2e1 SMART
internal_repeat_1 251 295 4.22e-7 PROSPERO
FN3 394 475 2.11e0 SMART
FN3 490 573 9.77e-5 SMART
FN3 587 669 1.18e-12 SMART
transmembrane domain 696 718 N/A INTRINSIC
TyrKc 772 1040 1.9e-138 SMART
Predicted Effect silent
Transcript: ENSMUST00000102798
SMART Domains Protein: ENSMUSP00000099862
Gene: ENSMUSG00000006386

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Ig_Tie2_1 24 118 5e-44 PFAM
IG_like 128 209 6.52e0 SMART
EGF_Lam 227 264 1.26e-2 SMART
EGF 267 299 2.2e1 SMART
internal_repeat_1 302 346 4.36e-7 PROSPERO
IG_like 356 442 3.29e1 SMART
FN3 445 526 2.11e0 SMART
FN3 541 624 9.77e-5 SMART
FN3 638 720 1.18e-12 SMART
transmembrane domain 747 769 N/A INTRINSIC
TyrKc 823 1091 1.9e-138 SMART
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality during organogenesis, impaired vascular branching in the embryo and yolk sac, abnormal cardiac development, and in some cases hemorrhages. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,087,027 (GRCm39) I565T probably damaging Het
Adamts8 G A 9: 30,864,778 (GRCm39) C423Y probably damaging Het
Adamts8 G A 9: 30,870,209 (GRCm39) probably null Het
Ahctf1 A C 1: 179,613,660 (GRCm39) V490G possibly damaging Het
Akap13 A G 7: 75,261,218 (GRCm39) T478A possibly damaging Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Ano9 T C 7: 140,683,989 (GRCm39) S559G probably damaging Het
Aox1 A G 1: 58,376,590 (GRCm39) T924A probably damaging Het
Atp13a1 A G 8: 70,259,870 (GRCm39) E1126G probably damaging Het
Bcan A G 3: 87,900,382 (GRCm39) V617A probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Cldnd1 A T 16: 58,550,078 (GRCm39) N87I possibly damaging Het
Enpp2 A T 15: 54,709,275 (GRCm39) V784E probably damaging Het
Eps8 T A 6: 137,507,575 (GRCm39) Y51F possibly damaging Het
Fam184b T C 5: 45,741,595 (GRCm39) K212R probably benign Het
Fbn1 A C 2: 125,254,706 (GRCm39) C186G possibly damaging Het
Fsip1 G A 2: 117,967,092 (GRCm39) T411I probably benign Het
Glyr1 T C 16: 4,836,785 (GRCm39) T460A probably benign Het
Gm19410 G A 8: 36,238,940 (GRCm39) G70R probably damaging Het
Gna15 G A 10: 81,359,745 (GRCm39) T15I probably damaging Het
Heg1 T C 16: 33,571,570 (GRCm39) C1198R probably damaging Het
Hoxd1 A G 2: 74,594,504 (GRCm39) Y253C probably damaging Het
Il17re G T 6: 113,443,111 (GRCm39) Q316H probably damaging Het
Jakmip1 C A 5: 37,331,182 (GRCm39) P621T probably benign Het
Krt71 T C 15: 101,643,894 (GRCm39) Y448C probably damaging Het
Lgals8 A G 13: 12,468,137 (GRCm39) probably null Het
Marchf11 A G 15: 26,409,505 (GRCm39) *401W probably null Het
Mctp1 A T 13: 76,789,829 (GRCm39) probably null Het
Mms19 C A 19: 41,944,400 (GRCm39) V310F probably damaging Het
Mycbp2 A T 14: 103,392,674 (GRCm39) F3296I probably damaging Het
Myo7b A T 18: 32,146,422 (GRCm39) I121N probably damaging Het
Nr0b2 T C 4: 133,280,847 (GRCm39) S38P probably benign Het
Nudt16l1 T A 16: 4,757,243 (GRCm39) M52K probably benign Het
Or3a4 A G 11: 73,945,054 (GRCm39) I177T probably damaging Het
Or8k32 T C 2: 86,368,566 (GRCm39) N229S probably benign Het
Polr3gl A T 3: 96,489,552 (GRCm39) probably null Het
Ptch2 T A 4: 116,963,198 (GRCm39) F228L probably benign Het
Slc35d1 A G 4: 103,070,360 (GRCm39) probably null Het
Slc41a1 G A 1: 131,768,635 (GRCm39) V198I probably damaging Het
Slc5a7 T C 17: 54,583,709 (GRCm39) D527G possibly damaging Het
Spaca7b A G 8: 11,705,615 (GRCm39) I164T unknown Het
Spag16 G T 1: 69,866,247 (GRCm39) A29S probably benign Het
Speer4f2 T A 5: 17,582,630 (GRCm39) D284E unknown Het
Sspo A G 6: 48,465,434 (GRCm39) probably null Het
Tdpoz1 T C 3: 93,578,517 (GRCm39) K89R possibly damaging Het
Tet3 C T 6: 83,353,956 (GRCm39) V902M probably damaging Het
Tpcn2 C T 7: 144,810,928 (GRCm39) V590M probably damaging Het
Trcg1 T C 9: 57,149,499 (GRCm39) V357A probably benign Het
Tspan18 A G 2: 93,041,203 (GRCm39) V133A probably benign Het
Unc5b A T 10: 60,613,322 (GRCm39) W305R probably damaging Het
Vmn2r95 T A 17: 18,660,529 (GRCm39) L314I possibly damaging Het
Wdsub1 G A 2: 59,707,061 (GRCm39) A178V probably damaging Het
Zfp407 A G 18: 84,577,754 (GRCm39) S1120P probably benign Het
Zfp57 T C 17: 37,320,566 (GRCm39) F140S probably damaging Het
Other mutations in Tek
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00654:Tek APN 4 94,715,538 (GRCm39) missense probably benign 0.03
IGL00805:Tek APN 4 94,686,956 (GRCm39) missense probably damaging 1.00
IGL00806:Tek APN 4 94,686,956 (GRCm39) missense probably damaging 1.00
IGL00807:Tek APN 4 94,686,956 (GRCm39) missense probably damaging 1.00
IGL00870:Tek APN 4 94,761,318 (GRCm39) nonsense probably null
IGL01348:Tek APN 4 94,747,895 (GRCm39) missense probably damaging 1.00
IGL01398:Tek APN 4 94,738,014 (GRCm39) missense probably damaging 1.00
IGL01683:Tek APN 4 94,747,148 (GRCm39) missense probably damaging 1.00
IGL01827:Tek APN 4 94,627,882 (GRCm39) missense probably benign 0.24
IGL02063:Tek APN 4 94,627,882 (GRCm39) missense probably benign 0.24
IGL02218:Tek APN 4 94,743,574 (GRCm39) missense probably damaging 1.00
IGL02502:Tek APN 4 94,741,818 (GRCm39) critical splice donor site probably null
IGL02852:Tek APN 4 94,743,561 (GRCm39) missense probably damaging 1.00
IGL02995:Tek APN 4 94,627,877 (GRCm39) utr 5 prime probably benign
IGL03182:Tek APN 4 94,740,002 (GRCm39) missense probably damaging 1.00
IGL03247:Tek APN 4 94,753,680 (GRCm39) missense possibly damaging 0.85
IGL03014:Tek UTSW 4 94,715,500 (GRCm39) missense probably benign 0.05
R0022:Tek UTSW 4 94,725,509 (GRCm39) missense probably damaging 0.98
R0373:Tek UTSW 4 94,692,578 (GRCm39) missense probably damaging 1.00
R0479:Tek UTSW 4 94,692,549 (GRCm39) missense probably benign 0.01
R1178:Tek UTSW 4 94,692,524 (GRCm39) missense probably damaging 1.00
R1289:Tek UTSW 4 94,693,067 (GRCm39) missense probably damaging 1.00
R1331:Tek UTSW 4 94,627,943 (GRCm39) splice site probably benign
R1502:Tek UTSW 4 94,669,339 (GRCm39) missense probably damaging 1.00
R1606:Tek UTSW 4 94,738,004 (GRCm39) missense probably damaging 0.99
R2073:Tek UTSW 4 94,715,966 (GRCm39) missense probably benign 0.01
R2075:Tek UTSW 4 94,715,966 (GRCm39) missense probably benign 0.01
R2230:Tek UTSW 4 94,699,573 (GRCm39) missense probably damaging 1.00
R2851:Tek UTSW 4 94,708,461 (GRCm39) missense probably benign 0.30
R2852:Tek UTSW 4 94,708,461 (GRCm39) missense probably benign 0.30
R3775:Tek UTSW 4 94,692,549 (GRCm39) missense probably benign 0.01
R3845:Tek UTSW 4 94,693,109 (GRCm39) missense probably damaging 1.00
R4114:Tek UTSW 4 94,737,920 (GRCm39) missense probably damaging 0.99
R4115:Tek UTSW 4 94,737,920 (GRCm39) missense probably damaging 0.99
R4273:Tek UTSW 4 94,718,207 (GRCm39) missense probably damaging 1.00
R4425:Tek UTSW 4 94,751,904 (GRCm39) missense probably damaging 1.00
R4488:Tek UTSW 4 94,737,993 (GRCm39) missense possibly damaging 0.72
R4579:Tek UTSW 4 94,751,903 (GRCm39) nonsense probably null
R4623:Tek UTSW 4 94,751,898 (GRCm39) missense probably damaging 1.00
R4651:Tek UTSW 4 94,669,121 (GRCm39) missense probably damaging 1.00
R4652:Tek UTSW 4 94,669,121 (GRCm39) missense probably damaging 1.00
R4723:Tek UTSW 4 94,687,397 (GRCm39) missense possibly damaging 0.71
R5059:Tek UTSW 4 94,692,551 (GRCm39) missense probably benign 0.10
R5652:Tek UTSW 4 94,743,561 (GRCm39) missense probably damaging 1.00
R5793:Tek UTSW 4 94,708,333 (GRCm39) missense probably benign 0.01
R5855:Tek UTSW 4 94,741,790 (GRCm39) missense probably damaging 1.00
R5912:Tek UTSW 4 94,686,877 (GRCm39) missense probably damaging 1.00
R6537:Tek UTSW 4 94,725,561 (GRCm39) missense probably benign 0.19
R6727:Tek UTSW 4 94,741,732 (GRCm39) nonsense probably null
R6835:Tek UTSW 4 94,741,671 (GRCm39) missense possibly damaging 0.94
R6883:Tek UTSW 4 94,725,426 (GRCm39) missense possibly damaging 0.89
R6887:Tek UTSW 4 94,693,181 (GRCm39) missense probably damaging 1.00
R7027:Tek UTSW 4 94,753,747 (GRCm39) missense probably damaging 1.00
R7108:Tek UTSW 4 94,741,724 (GRCm39) missense probably damaging 1.00
R7121:Tek UTSW 4 94,699,647 (GRCm39) missense probably benign 0.19
R7220:Tek UTSW 4 94,692,541 (GRCm39) missense probably damaging 1.00
R7346:Tek UTSW 4 94,715,533 (GRCm39) missense probably benign
R7417:Tek UTSW 4 94,699,582 (GRCm39) missense probably benign
R7465:Tek UTSW 4 94,716,063 (GRCm39) critical splice donor site probably null
R7818:Tek UTSW 4 94,715,953 (GRCm39) missense possibly damaging 0.67
R7917:Tek UTSW 4 94,708,372 (GRCm39) missense possibly damaging 0.89
R7956:Tek UTSW 4 94,687,580 (GRCm39) splice site probably null
R8098:Tek UTSW 4 94,715,907 (GRCm39) missense probably benign 0.19
R8442:Tek UTSW 4 94,715,922 (GRCm39) missense probably benign 0.04
R8523:Tek UTSW 4 94,687,403 (GRCm39) missense probably benign 0.12
R8676:Tek UTSW 4 94,738,074 (GRCm39) missense probably benign
R8787:Tek UTSW 4 94,738,037 (GRCm39) missense probably damaging 1.00
R9020:Tek UTSW 4 94,708,339 (GRCm39) missense probably benign 0.40
R9172:Tek UTSW 4 94,692,583 (GRCm39) missense probably benign 0.02
R9429:Tek UTSW 4 94,715,515 (GRCm39) missense probably benign
R9564:Tek UTSW 4 94,762,172 (GRCm39) missense probably damaging 1.00
R9602:Tek UTSW 4 94,715,968 (GRCm39) missense possibly damaging 0.91
R9643:Tek UTSW 4 94,692,523 (GRCm39) missense possibly damaging 0.51
R9721:Tek UTSW 4 94,692,539 (GRCm39) missense possibly damaging 0.94
R9722:Tek UTSW 4 94,692,539 (GRCm39) missense possibly damaging 0.94
R9723:Tek UTSW 4 94,692,539 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- ACCTAAACTAAGTCAGTGGCTTCAC -3'
(R):5'- GTAGAGCTCATCTGGCTTGAAC -3'

Sequencing Primer
(F):5'- ACCTCTGTTTCCCTGCACAG -3'
(R):5'- GCTCATCTGGCTTGAACAAGAATTTG -3'
Posted On 2020-10-29