Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01398:Tek'

79527

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 #

IGL01398

Quality Score

Status

Chromosome

Chromosomal Location

94627526-94763213 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94738014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 688 (I688T)

Ref Sequence

ENSEMBL: ENSMUSP00000099862 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071168] [ENSMUST00000073939] [ENSMUST00000102798]

AlphaFold

Q02858

Predicted Effect

probably damaging
Transcript: ENSMUST00000071168
AA Change: I688T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071162
Gene: ENSMUSG00000006386
AA Change: I688T

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000073939
AA Change: I637T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073595
Gene: ENSMUSG00000006386
AA Change: I637T

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000102798
AA Change: I688T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099862
Gene: ENSMUSG00000006386
AA Change: I688T

Domain	Start	End	E-Value	Type
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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	T	C	11: 69,772,548 (GRCm39)	D521G	probably damaging	Het
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Best2	T	A	8: 85,735,956 (GRCm39)	Y326F	probably damaging	Het
Clca3a1	T	C	3: 144,722,512 (GRCm39)	T287A	possibly damaging	Het
Cyp26a1	C	T	19: 37,686,395 (GRCm39)	T13I	probably damaging	Het
Dhcr7	T	C	7: 143,395,056 (GRCm39)	S188P	probably damaging	Het
Eml3	T	G	19: 8,911,598 (GRCm39)		probably benign	Het
Faf1	A	T	4: 109,593,793 (GRCm39)	I124F	probably damaging	Het
Fkbp9	T	A	6: 56,837,790 (GRCm39)		probably benign	Het
Foxq1	G	A	13: 31,743,434 (GRCm39)	D179N	probably damaging	Het
Frem1	C	T	4: 82,868,599 (GRCm39)	V1443M	possibly damaging	Het
Gpnmb	T	A	6: 49,027,365 (GRCm39)	M363K	probably benign	Het
Grm3	T	C	5: 9,535,762 (GRCm39)		probably benign	Het
Ints3	A	G	3: 90,300,130 (GRCm39)	L929P	probably damaging	Het
Myh11	T	A	16: 14,019,964 (GRCm39)	I1823F	probably damaging	Het
Nudt9	T	C	5: 104,212,979 (GRCm39)	*351Q	probably null	Het
Or2ak6	A	T	11: 58,592,593 (GRCm39)	H22L	probably benign	Het
Or4c107	C	T	2: 88,789,193 (GRCm39)	P128S	probably damaging	Het
Or8k38	A	T	2: 86,488,032 (GRCm39)	F257I	probably damaging	Het
Pgr15l	C	T	X: 96,121,785 (GRCm39)	T392I	probably benign	Het
Sdk1	C	A	5: 141,923,332 (GRCm39)	L318I	probably benign	Het
Sult1c2	C	A	17: 54,269,180 (GRCm39)	V279L	possibly damaging	Het
Telo2	A	T	17: 25,324,748 (GRCm39)	D477E	probably benign	Het
Ubr3	T	A	2: 69,789,997 (GRCm39)	Y884N	probably damaging	Het
Upf3a	C	A	8: 13,836,221 (GRCm39)	H92Q	probably damaging	Het
Vmn2r51	C	T	7: 9,836,341 (GRCm39)	E147K	probably benign	Het
Vps54	A	G	11: 21,245,403 (GRCm39)		probably benign	Het
Zdhhc14	T	C	17: 5,762,738 (GRCm39)	I214T	possibly damaging	Het

Other mutations in Tek

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

2013-11-05