Mutagenetix > Incidental Mutation

Incidental Mutation 'R4115:Tek'

314575

Institutional Source

Beutler Lab

Gene Symbol

Tek

Ensembl Gene

ENSMUSG00000006386

Gene Name

TEK receptor tyrosine kinase

Synonyms

Cd202b, Tie2, tie-2, Hyk

MMRRC Submission

041630-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4115 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94627526-94763213 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94737920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 657 (S657P)

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: S657P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071162
Gene: ENSMUSG00000006386
AA Change: S657P

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: S606P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073595
Gene: ENSMUSG00000006386
AA Change: S606P

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: S657P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099862
Gene: ENSMUSG00000006386
AA Change: S657P

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

Meta Mutation Damage Score

0.7854

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.3%
20x: 95.3%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd34c	A	G	9: 89,611,927 (GRCm39)	L138P	probably damaging	Het
Aplp2	C	T	9: 31,069,122 (GRCm39)	R569Q	probably benign	Het
BC035044	C	T	6: 128,867,813 (GRCm39)		probably benign	Het
Camta2	T	C	11: 70,567,300 (GRCm39)	M626V	possibly damaging	Het
Cdh20	G	A	1: 110,066,039 (GRCm39)	R771Q	probably benign	Het
Chd3	T	G	11: 69,248,343 (GRCm39)	I850L	possibly damaging	Het
Cspg4	T	A	9: 56,805,678 (GRCm39)	L2163Q	probably damaging	Het
Cyp2c66	A	G	19: 39,165,003 (GRCm39)	D328G	possibly damaging	Het
Dcun1d3	T	C	7: 119,458,957 (GRCm39)	N26S	probably benign	Het
Dmxl2	A	T	9: 54,354,272 (GRCm39)	Y391*	probably null	Het
Gnl3	T	G	14: 30,738,813 (GRCm39)	K79Q	probably damaging	Het
Hat1	A	G	2: 71,271,566 (GRCm39)	T380A	probably benign	Het
Hectd1	A	T	12: 51,815,506 (GRCm39)	L1527*	probably null	Het
Ighv11-1	A	G	12: 113,945,685 (GRCm39)	V56A	probably benign	Het
Ism2	A	G	12: 87,333,805 (GRCm39)	I80T	probably benign	Het
Itpr2	C	T	6: 146,327,008 (GRCm39)	V120I	probably damaging	Het
Kif1a	T	A	1: 92,980,260 (GRCm39)	E823V	probably damaging	Het
Letm2	T	A	8: 26,070,343 (GRCm39)	K432*	probably null	Het
LTO1	G	A	7: 144,473,383 (GRCm39)	V142M	possibly damaging	Het
Mc4r	T	A	18: 66,993,050 (GRCm39)	Y21F	probably benign	Het
Morc3	G	A	16: 93,670,227 (GRCm39)	D801N	probably benign	Het
Mycbpap	C	A	11: 94,403,051 (GRCm39)		probably null	Het
Nfkbil1	A	G	17: 35,440,286 (GRCm39)	M129T	probably damaging	Het
Notch3	C	A	17: 32,377,407 (GRCm39)	C223F	probably damaging	Het
Nrcam	T	C	12: 44,613,109 (GRCm39)	V606A	possibly damaging	Het
Nudcd2	T	C	11: 40,627,434 (GRCm39)	M118T	probably damaging	Het
Or1j13	A	T	2: 36,369,797 (GRCm39)	L115Q	probably damaging	Het
Pcsk5	C	T	19: 17,410,783 (GRCm39)	D1870N	unknown	Het
Pde3b	T	C	7: 114,120,962 (GRCm39)	F696L	probably damaging	Het
Pde8a	T	A	7: 80,932,555 (GRCm39)		probably null	Het
Pgm1	C	T	4: 99,819,348 (GRCm39)	Q191*	probably null	Het
Pramel21	A	G	4: 143,344,026 (GRCm39)	D442G	probably benign	Het
Psg20	A	G	7: 18,419,905 (GRCm39)	S5P	probably damaging	Het
Reps1	C	T	10: 17,979,955 (GRCm39)	P397S	possibly damaging	Het
Sec22a	A	G	16: 35,139,202 (GRCm39)	F232S	probably damaging	Het
Spata13	G	T	14: 60,929,927 (GRCm39)	G168V	probably damaging	Het
Spta1	T	C	1: 174,067,923 (GRCm39)	W2117R	probably damaging	Het
Sptbn4	C	T	7: 27,090,995 (GRCm39)	E1399K	probably damaging	Het
Thoc2l	T	C	5: 104,667,299 (GRCm39)	L607S	probably damaging	Het
Trpm6	T	C	19: 18,809,921 (GRCm39)	W1106R	probably damaging	Het
Tssk3	T	C	4: 129,383,300 (GRCm39)	Y124C	probably damaging	Het
Ugt2b1	A	G	5: 87,074,273 (GRCm39)	W29R	probably damaging	Het
Vmn2r97	T	C	17: 19,148,332 (GRCm39)	F76L	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
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

Predicted Primers

PCR Primer
(F):5'- CATTGCCAGTGAAGGAGTACTC -3'
(R):5'- AAGGCTGGGTTGCTTGATCC -3'

Sequencing Primer
(F):5'- CAGTGAAGGAGTACTCTTCCTATTC -3'
(R):5'- GCTTGATCCTATGTTGTTCTCAG -3'

Posted On

2015-05-14