Incidental Mutation 'IGL02063:Tek'
ID 185495
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tek
Ensembl Gene ENSMUSG00000006386
Gene Name TEK receptor tyrosine kinase
Synonyms Cd202b, Tie2, tie-2, Hyk
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02063
Quality Score
Status
Chromosome 4
Chromosomal Location 94627526-94763213 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94627882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 2 (D2G)
Ref Sequence ENSEMBL: ENSMUSP00000099862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071168] [ENSMUST00000073939] [ENSMUST00000102798]
AlphaFold Q02858
Predicted Effect probably benign
Transcript: ENSMUST00000071168
AA Change: D2G

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000071162
Gene: ENSMUSG00000006386
AA Change: D2G

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 probably benign
Transcript: ENSMUST00000073939
AA Change: D2G

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000073595
Gene: ENSMUSG00000006386
AA Change: D2G

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 probably benign
Transcript: ENSMUST00000102798
AA Change: D2G

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000099862
Gene: ENSMUSG00000006386
AA Change: D2G

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
Coding Region Coverage
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg2b A G 12: 105,614,581 (GRCm39) Y1117H possibly damaging Het
B020004C17Rik A G 14: 57,253,480 (GRCm39) R24G probably damaging Het
BC005624 A G 2: 30,868,946 (GRCm39) M76T probably benign Het
Blm G T 7: 80,159,167 (GRCm39) S323* probably null Het
Card19 C A 13: 49,356,607 (GRCm39) G181* probably null Het
Cilp2 T C 8: 70,335,515 (GRCm39) I494M probably damaging Het
Col5a2 A G 1: 45,442,579 (GRCm39) probably null Het
Col6a4 T C 9: 105,934,617 (GRCm39) D1431G probably benign Het
Cped1 G A 6: 22,138,701 (GRCm39) C560Y probably damaging Het
Cyfip1 T C 7: 55,576,096 (GRCm39) S1091P probably damaging Het
Ddx24 A G 12: 103,384,461 (GRCm39) I466T probably damaging Het
Dlg2 T A 7: 91,459,684 (GRCm39) probably benign Het
Esf1 C A 2: 140,006,377 (GRCm39) D257Y possibly damaging Het
Fgfr2 A G 7: 129,769,485 (GRCm39) F634S probably damaging Het
Flywch2 A G 17: 23,996,081 (GRCm39) probably benign Het
Gbp10 A T 5: 105,383,906 (GRCm39) I32N possibly damaging Het
Gli3 A G 13: 15,900,957 (GRCm39) D1448G possibly damaging Het
Gm10335 T C 10: 14,399,147 (GRCm39) probably benign Het
Golga5 A T 12: 102,438,418 (GRCm39) E44D probably benign Het
H2-M10.1 C T 17: 36,634,901 (GRCm39) probably benign Het
Ino80b A T 6: 83,101,143 (GRCm39) D141E probably damaging Het
Itpr3 A G 17: 27,338,997 (GRCm39) I2593V probably benign Het
Krt73 C T 15: 101,704,204 (GRCm39) probably benign Het
Loxl4 G T 19: 42,596,778 (GRCm39) L78I probably benign Het
Mbd5 A T 2: 49,164,779 (GRCm39) N360I probably damaging Het
Nfat5 A T 8: 108,088,450 (GRCm39) M495L probably benign Het
Nrxn3 A T 12: 88,762,565 (GRCm39) E204V possibly damaging Het
Or8k21 G T 2: 86,145,137 (GRCm39) F164L possibly damaging Het
Paqr4 A T 17: 23,958,886 (GRCm39) C38* probably null Het
Pcdhb13 T A 18: 37,577,282 (GRCm39) N553K probably damaging Het
Pcdhb9 T A 18: 37,534,810 (GRCm39) M268K probably benign Het
Pdap1 A T 5: 145,071,869 (GRCm39) probably benign Het
Phf2 A T 13: 48,975,118 (GRCm39) Y281N unknown Het
Phka2 T A X: 159,347,209 (GRCm39) I664N possibly damaging Het
Plekha7 A T 7: 115,739,936 (GRCm39) D762E possibly damaging Het
Plekhg4 T A 8: 106,105,884 (GRCm39) probably benign Het
Ppfia2 A T 10: 106,740,706 (GRCm39) Q1006L probably null Het
Pramel12 C A 4: 143,144,421 (GRCm39) Q256K probably benign Het
Prmt5 G A 14: 54,748,477 (GRCm39) Q197* probably null Het
Prodh A T 16: 17,897,049 (GRCm39) probably null Het
Ptgr3 T A 18: 84,113,390 (GRCm39) Y355* probably null Het
Rnft2 A G 5: 118,380,587 (GRCm39) probably benign Het
Rp1l1 G T 14: 64,266,985 (GRCm39) S857I probably damaging Het
Samd9l A G 6: 3,372,992 (GRCm39) F1423S probably damaging Het
Scn3a A G 2: 65,291,854 (GRCm39) Y1631H probably damaging Het
Slc22a5 A T 11: 53,765,899 (GRCm39) I229K probably damaging Het
Slco1a7 T C 6: 141,684,615 (GRCm39) D280G probably benign Het
Snd1 T A 6: 28,526,220 (GRCm39) probably benign Het
Srrm1 G T 4: 135,074,518 (GRCm39) probably null Het
Syne2 T C 12: 76,098,874 (GRCm39) V5252A probably damaging Het
Uba1 T C X: 20,545,964 (GRCm39) S803P probably damaging Het
Uggt2 A G 14: 119,326,605 (GRCm39) I202T possibly damaging Het
Umodl1 A T 17: 31,206,888 (GRCm39) I760F probably benign Het
Vgll1 A G X: 56,144,569 (GRCm39) probably benign Het
Zfp236 A G 18: 82,676,276 (GRCm39) V347A probably benign Het
Zswim9 T C 7: 12,994,608 (GRCm39) E516G 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
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
R7942:Tek UTSW 4 94,740,111 (GRCm39) splice site probably null
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
Posted On 2014-05-07