Mutagenetix > Incidental Mutation

Incidental Mutation 'R6727:Tek'

529898

Institutional Source

Beutler Lab

Gene Symbol

Tek

Ensembl Gene

ENSMUSG00000006386

Gene Name

TEK receptor tyrosine kinase

Synonyms

Cd202b, Tie2, tie-2, Hyk

MMRRC Submission

044845-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94627526-94763213 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 94741732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 830 (G830*)

Ref Sequence

ENSEMBL: ENSMUSP00000099862 (fasta)

Gene Model

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

AlphaFold

Q02858

Predicted Effect

probably null
Transcript: ENSMUST00000071168
AA Change: G829*

SMART Domains

Protein: ENSMUSP00000071162
Gene: ENSMUSG00000006386
AA Change: G829*

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 null
Transcript: ENSMUST00000073939
AA Change: G779*

SMART Domains

Protein: ENSMUSP00000073595
Gene: ENSMUSG00000006386
AA Change: G779*

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 null
Transcript: ENSMUST00000102798
AA Change: G830*

SMART Domains

Protein: ENSMUSP00000099862
Gene: ENSMUSG00000006386
AA Change: G830*

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: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

Validation Efficiency

98% (44/45)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010109A12Rik	A	G	5: 93,354,434 (GRCm39)		probably benign	Het
4930563M21Rik	C	T	9: 55,896,760 (GRCm39)	V283I	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Allc	T	A	12: 28,607,388 (GRCm39)	H288L	probably damaging	Het
Atg16l1	T	C	1: 87,702,576 (GRCm39)	I279T	possibly damaging	Het
Atp6v1b1	A	G	6: 83,728,857 (GRCm39)		probably benign	Het
Barhl1	G	A	2: 28,805,495 (GRCm39)	P66L	probably benign	Het
Brd8dc	T	A	18: 34,713,894 (GRCm39)	M244L	probably benign	Het
Cfap58	A	T	19: 47,943,856 (GRCm39)	D352V	probably benign	Het
Cyp3a44	T	A	5: 145,731,781 (GRCm39)	K122*	probably null	Het
Dnai1	G	T	4: 41,625,308 (GRCm39)	R424L	probably benign	Het
Dync1li2	G	T	8: 105,167,167 (GRCm39)	H79Q	probably damaging	Het
Fem1b	A	G	9: 62,704,015 (GRCm39)	V415A	possibly damaging	Het
Fgb	C	T	3: 82,954,094 (GRCm39)	S48N	possibly damaging	Het
Gm5624	T	C	14: 44,799,332 (GRCm39)	D31G	possibly damaging	Het
Gzmn	T	A	14: 56,403,432 (GRCm39)	I226F	probably damaging	Het
H2-T5	A	T	17: 36,476,622 (GRCm39)	V284E	probably damaging	Het
Il31ra	T	C	13: 112,683,902 (GRCm39)	S184G	probably damaging	Het
Insrr	C	T	3: 87,720,873 (GRCm39)	R1044C	probably damaging	Het
Kcnj15	A	G	16: 95,097,193 (GRCm39)	S272G	probably damaging	Het
Kcnk16	C	T	14: 20,312,997 (GRCm39)	A106T	probably benign	Het
Kmt2b	A	G	7: 30,283,984 (GRCm39)	V876A	probably damaging	Het
Large2	G	T	2: 92,201,215 (GRCm39)		probably benign	Het
Maml2	A	T	9: 13,532,847 (GRCm39)		probably benign	Het
Me1	A	G	9: 86,464,851 (GRCm39)	L533P	possibly damaging	Het
Muc16	A	G	9: 18,477,986 (GRCm39)		probably null	Het
Nova2	C	A	7: 18,692,419 (GRCm39)	T516K	probably damaging	Het
Or1l4	T	A	2: 37,092,118 (GRCm39)	N288K	probably damaging	Het
Or56b1	T	C	7: 104,285,094 (GRCm39)	I71T	probably damaging	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Ppp2r1a	T	A	17: 21,176,087 (GRCm39)	V103E	probably benign	Het
Prl3d3	G	A	13: 27,341,147 (GRCm39)		probably null	Het
Rhbdf1	G	T	11: 32,164,042 (GRCm39)	A288E	possibly damaging	Het
Rnf213	T	C	11: 119,321,147 (GRCm39)	S1202P	possibly damaging	Het
Slc25a17	A	G	15: 81,222,154 (GRCm39)	V106A	probably benign	Het
Slc4a4	T	G	5: 89,318,624 (GRCm39)	S640A	probably benign	Het
Smc4	T	A	3: 68,924,105 (GRCm39)	Y298N	probably damaging	Het
Tgfb1	A	T	7: 25,388,587 (GRCm39)		probably benign	Het
Themis	T	C	10: 28,657,903 (GRCm39)	I157T	probably damaging	Het
Trmt12	A	G	15: 58,744,514 (GRCm39)		probably benign	Het
Trrap	T	C	5: 144,793,760 (GRCm39)	W3654R	probably damaging	Het
Tspan3	C	T	9: 56,054,724 (GRCm39)	G108S	probably damaging	Het
Ugt1a10	T	A	1: 87,983,979 (GRCm39)		probably null	Het
Vps13b	A	G	15: 35,770,829 (GRCm39)	K2091E	probably benign	Het
Wdr62	A	T	7: 29,971,045 (GRCm39)	V184D	probably damaging	Het
Zfp958	C	A	8: 4,678,247 (GRCm39)	Q90K	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TCCACCTGTGTAGATACAAAGCAG -3'
(R):5'- GAGCAACTCCTGGTTCGAAG -3'

Sequencing Primer
(F):5'- TGCACCTTAGGATGACAAATGTCC -3'
(R):5'- TCGAAGAATATATGGCCACAAAGG -3'

Posted On

2018-08-01