Mutagenetix > Incidental Mutation

Incidental Mutation 'R6835:Tek'

534383

Institutional Source

Beutler Lab

Gene Symbol

Tek

Ensembl Gene

ENSMUSG00000006386

Gene Name

TEK receptor tyrosine kinase

Synonyms

Cd202b, Tie2, tie-2, Hyk

MMRRC Submission

044944-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6835 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94627526-94763213 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 94741671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 809 (N809K)

Ref Sequence

ENSEMBL: ENSMUSP00000099862 (fasta)

Gene Model

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

AlphaFold

Q02858

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071168
AA Change: N808K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071162
Gene: ENSMUSG00000006386
AA Change: N808K

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

possibly damaging
Transcript: ENSMUST00000073939
AA Change: N758K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073595
Gene: ENSMUSG00000006386
AA Change: N758K

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

possibly damaging
Transcript: ENSMUST00000102798
AA Change: N809K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099862
Gene: ENSMUSG00000006386
AA Change: N809K

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (44/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	G	9: 107,807,761 (GRCm39)	R695G	probably benign	Het
Arhgef4	A	G	1: 34,845,574 (GRCm39)	H1533R	probably damaging	Het
Birc6	T	C	17: 74,949,499 (GRCm39)	L3120P	probably damaging	Het
Cfap46	T	A	7: 139,232,414 (GRCm39)	I850F	probably damaging	Het
Crym	A	C	7: 119,785,868 (GRCm39)	S311A	probably benign	Het
Cttn	T	C	7: 144,010,234 (GRCm39)		probably null	Het
Dtnb	C	T	12: 3,682,841 (GRCm39)		probably benign	Het
Edem1	T	C	6: 108,831,360 (GRCm39)	V607A	probably benign	Het
Etfa	A	G	9: 55,403,103 (GRCm39)	V64A	probably benign	Het
Fam133b	A	G	5: 3,604,732 (GRCm39)	T40A	possibly damaging	Het
Fmn2	C	A	1: 174,527,235 (GRCm39)	D1442E	probably damaging	Het
Gpi1	T	C	7: 33,926,563 (GRCm39)	K128E	possibly damaging	Het
Gpr179	A	T	11: 97,238,293 (GRCm39)	F310L	probably damaging	Het
Hdac7	T	A	15: 97,700,628 (GRCm39)	H531L	probably damaging	Het
Hfm1	G	A	5: 107,026,681 (GRCm39)	R145*	probably null	Het
Hsp90b1	A	T	10: 86,529,949 (GRCm39)	D573E	probably damaging	Het
Hunk	T	G	16: 90,269,412 (GRCm39)	W243G	probably damaging	Het
Icam1	G	T	9: 20,938,421 (GRCm39)	G327W	possibly damaging	Het
Ino80d	C	A	1: 63,113,485 (GRCm39)	A322S	probably benign	Het
Irag1	T	G	7: 110,520,541 (GRCm39)	E278A	probably damaging	Het
Itpkc	A	C	7: 26,927,240 (GRCm39)	S225A	probably benign	Het
Krt75	C	T	15: 101,479,472 (GRCm39)	R286Q	probably benign	Het
Lmnb2	A	G	10: 80,745,794 (GRCm39)	L95P	probably damaging	Het
Mns1	T	C	9: 72,360,026 (GRCm39)	M392T	probably damaging	Het
Morc3	A	T	16: 93,644,309 (GRCm39)	N200I	probably damaging	Het
Myadm	T	C	7: 3,346,192 (GRCm39)	V318A	possibly damaging	Het
Nt5dc1	A	C	10: 34,186,375 (GRCm39)	S398A	probably benign	Het
Or13c7	T	C	4: 43,854,912 (GRCm39)	V201A	probably benign	Het
Or1e31	A	G	11: 73,690,061 (GRCm39)	I174T	possibly damaging	Het
Pcdhga2	T	C	18: 37,803,842 (GRCm39)	I562T	probably damaging	Het
Pcdhgb1	T	A	18: 37,813,553 (GRCm39)	C15S	probably benign	Het
Pikfyve	T	G	1: 65,298,002 (GRCm39)	L1532R	probably damaging	Het
Rdh7	T	A	10: 127,720,608 (GRCm39)	T255S	probably benign	Het
Rtel1	A	G	2: 180,997,746 (GRCm39)	T1165A	probably benign	Het
Sdk2	C	T	11: 113,720,874 (GRCm39)	A1352T	probably damaging	Het
Strip2	T	C	6: 29,941,916 (GRCm39)	S629P	probably damaging	Het
Taf5	A	G	19: 47,065,776 (GRCm39)	T494A	possibly damaging	Het
Tmbim7	A	T	5: 3,711,943 (GRCm39)	T63S	probably benign	Het
Utrn	A	T	10: 12,603,508 (GRCm39)	L624Q	probably damaging	Het
Xbp1	A	G	11: 5,471,809 (GRCm39)		probably benign	Het
Zbp1	T	A	2: 173,055,704 (GRCm39)		probably null	Het
Zfp112	T	C	7: 23,825,231 (GRCm39)	C400R	probably damaging	Het
Zfp202	C	T	9: 40,121,531 (GRCm39)		probably null	Het
Zfp747	T	C	7: 126,973,219 (GRCm39)	E317G	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGAACCCATTTGTATGCCCAC -3'
(R):5'- CAGGAAATGAATGTCTCCCCAC -3'

Sequencing Primer
(F):5'- GAACCCATTTGTATGCCCACTCTAG -3'
(R):5'- GGAAATGAATGTCTCCCCACCCTAG -3'

Posted On

2018-09-12