Mutagenetix > Incidental Mutations

Incidental Mutation 'R8676:Tek'

661370

Institutional Source

Beutler Lab

Gene Symbol

Tek

Ensembl Gene

ENSMUSG00000006386

Gene Name

TEK receptor tyrosine kinase

Synonyms

Cd202b, Hyk, tie-2, Tie2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8676 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94739289-94874976 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94849837 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 708 (H708L)

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: H708L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071162
Gene: ENSMUSG00000006386
AA Change: H708L

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 benign
Transcript: ENSMUST00000073939
AA Change: H657L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000073595
Gene: ENSMUSG00000006386
AA Change: H657L

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 benign
Transcript: ENSMUST00000102798
AA Change: H708L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099862
Gene: ENSMUSG00000006386
AA Change: H708L

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: 99.7%
20x: 99.1%

Validation Efficiency

93% (54/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	A	G	4: 107,895,599	N152D	unknown	Het
1700021F05Rik	A	G	10: 43,532,937	L70S	probably benign	Het
Acsm3	T	A	7: 119,775,169	S281R	probably damaging	Het
Adipor2	G	T	6: 119,363,486		probably benign	Het
Alk	T	C	17: 71,897,941	S1079G	probably damaging	Het
Ankrd27	T	C	7: 35,602,584		probably null	Het
Anxa6	C	A	11: 55,001,282	E283*	probably null	Het
Bnc2	T	C	4: 84,276,313	H858R	possibly damaging	Het
Btnl6	T	C	17: 34,508,069	S496G	probably benign	Het
Ccdc88a	T	C	11: 29,460,860	S449P	probably benign	Het
Cdh23	A	T	10: 60,410,910	D916E	probably damaging	Het
Cfap43	A	T	19: 47,748,017	L1345H	possibly damaging	Het
Cyld	A	T	8: 88,729,510	H396L	probably benign	Het
Cyp20a1	A	G	1: 60,379,420	T340A	possibly damaging	Het
Dera	A	T	6: 137,830,204	I217F	probably damaging	Het
Dnah11	A	G	12: 118,190,804	L247P	probably damaging	Het
Eftud2	G	A	11: 102,868,621	T152M	probably damaging	Het
Epb41l2	C	T	10: 25,443,776	T169M	probably benign	Het
Fam186a	T	C	15: 99,947,142	D407G	unknown	Het
Fam189a2	T	C	19: 23,988,494	K214E	probably damaging	Het
Gli3	T	A	13: 15,715,034	C578S	probably damaging	Het
Gm436	G	A	4: 144,670,113	R350C	possibly damaging	Het
Gm6408	A	G	5: 146,482,427	N84S	probably benign	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,887,919		probably benign	Het
Herc2	C	A	7: 56,188,613	T3296K	probably damaging	Het
Hnf4g	A	T	3: 3,643,073		probably benign	Het
Hyal4	C	A	6: 24,755,827	Q15K	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcna3	A	G	3: 107,036,592	E57G	probably damaging	Het
Kcnc3	C	A	7: 44,591,596	D237E	probably benign	Het
Map3k8	A	G	18: 4,343,137	V130A	probably benign	Het
Mpp7	A	G	18: 7,440,430		probably null	Het
Myh13	T	A	11: 67,342,485	L610Q	probably damaging	Het
Olfr1020	T	A	2: 85,849,902	M150K	probably benign	Het
Olfr1339	C	A	4: 118,735,038	P170T	probably damaging	Het
Olfr917	T	C	9: 38,665,768	I25M	probably benign	Het
Pcdhb5	A	T	18: 37,321,076	T170S	probably benign	Het
Polr3b	T	A	10: 84,680,387	H626Q	probably benign	Het
Prkg1	A	T	19: 31,764,746	L26Q	probably damaging	Het
Prob1	T	C	18: 35,653,986	N405S	possibly damaging	Het
Proz	T	G	8: 13,073,630	S300R	probably damaging	Het
Psg19	A	G	7: 18,794,065	I251T	probably benign	Het
Rcbtb1	T	C	14: 59,229,952	I413T	possibly damaging	Het
Rnf144b	T	A	13: 47,228,976	Y103N	probably damaging	Het
Rspry1	G	C	8: 94,632,119	G194R	probably benign	Het
Scn2b	A	G	9: 45,125,619	I142V	probably damaging	Het
Spata20	A	T	11: 94,481,781	L588H	probably damaging	Het
Stk32b	T	A	5: 37,457,159	H335L	probably benign	Het
Taar4	A	C	10: 23,960,903	D137A	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708		probably benign	Het
Tmem89	C	T	9: 108,915,027	L132F	unknown	Het
Ugt2b38	T	C	5: 87,411,822	I404V	probably benign	Het
Vmn1r16	C	T	6: 57,322,829	M269I	probably benign	Het
Vmn1r201	A	G	13: 22,475,252	K212R	probably damaging	Het
Vmn2r11	A	C	5: 109,053,760	F293V	probably damaging	Het
Zdhhc17	A	T	10: 110,962,379		probably benign	Het
Zfp423	C	A	8: 87,782,710	M335I	probably benign	Het
Zfp74	T	C	7: 29,934,654	Y543C	probably damaging	Het
Zfp975	A	T	7: 42,662,840	S116R	probably benign	Het

Other mutations in Tek

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Tek	APN	4	94827301	missense	probably benign	0.03
IGL00805:Tek	APN	4	94798719	missense	probably damaging	1.00
IGL00806:Tek	APN	4	94798719	missense	probably damaging	1.00
IGL00807:Tek	APN	4	94798719	missense	probably damaging	1.00
IGL00870:Tek	APN	4	94873081	nonsense	probably null
IGL01348:Tek	APN	4	94859658	missense	probably damaging	1.00
IGL01398:Tek	APN	4	94849777	missense	probably damaging	1.00
IGL01683:Tek	APN	4	94858911	missense	probably damaging	1.00
IGL01827:Tek	APN	4	94739645	missense	probably benign	0.24
IGL02063:Tek	APN	4	94739645	missense	probably benign	0.24
IGL02218:Tek	APN	4	94855337	missense	probably damaging	1.00
IGL02502:Tek	APN	4	94853581	critical splice donor site	probably null
IGL02852:Tek	APN	4	94855324	missense	probably damaging	1.00
IGL02995:Tek	APN	4	94739640	utr 5 prime	probably benign
IGL03182:Tek	APN	4	94851765	missense	probably damaging	1.00
IGL03247:Tek	APN	4	94865443	missense	possibly damaging	0.85
IGL03014:Tek	UTSW	4	94827263	missense	probably benign	0.05
R0022:Tek	UTSW	4	94837272	missense	probably damaging	0.98
R0373:Tek	UTSW	4	94804341	missense	probably damaging	1.00
R0479:Tek	UTSW	4	94804312	missense	probably benign	0.01
R1178:Tek	UTSW	4	94804287	missense	probably damaging	1.00
R1289:Tek	UTSW	4	94804830	missense	probably damaging	1.00
R1331:Tek	UTSW	4	94739706	splice site	probably benign
R1502:Tek	UTSW	4	94781102	missense	probably damaging	1.00
R1606:Tek	UTSW	4	94849767	missense	probably damaging	0.99
R2073:Tek	UTSW	4	94827729	missense	probably benign	0.01
R2075:Tek	UTSW	4	94827729	missense	probably benign	0.01
R2230:Tek	UTSW	4	94811336	missense	probably damaging	1.00
R2851:Tek	UTSW	4	94820224	missense	probably benign	0.30
R2852:Tek	UTSW	4	94820224	missense	probably benign	0.30
R3775:Tek	UTSW	4	94804312	missense	probably benign	0.01
R3845:Tek	UTSW	4	94804872	missense	probably damaging	1.00
R4114:Tek	UTSW	4	94849683	missense	probably damaging	0.99
R4115:Tek	UTSW	4	94849683	missense	probably damaging	0.99
R4273:Tek	UTSW	4	94829970	missense	probably damaging	1.00
R4425:Tek	UTSW	4	94863667	missense	probably damaging	1.00
R4488:Tek	UTSW	4	94849756	missense	possibly damaging	0.72
R4579:Tek	UTSW	4	94863666	nonsense	probably null
R4623:Tek	UTSW	4	94863661	missense	probably damaging	1.00
R4651:Tek	UTSW	4	94780884	missense	probably damaging	1.00
R4652:Tek	UTSW	4	94780884	missense	probably damaging	1.00
R4723:Tek	UTSW	4	94799160	missense	possibly damaging	0.71
R5059:Tek	UTSW	4	94804314	missense	probably benign	0.10
R5652:Tek	UTSW	4	94855324	missense	probably damaging	1.00
R5793:Tek	UTSW	4	94820096	missense	probably benign	0.01
R5855:Tek	UTSW	4	94853553	missense	probably damaging	1.00
R5912:Tek	UTSW	4	94798640	missense	probably damaging	1.00
R6537:Tek	UTSW	4	94837324	missense	probably benign	0.19
R6727:Tek	UTSW	4	94853495	nonsense	probably null
R6835:Tek	UTSW	4	94853434	missense	possibly damaging	0.94
R6883:Tek	UTSW	4	94837189	missense	possibly damaging	0.89
R6887:Tek	UTSW	4	94804944	missense	probably damaging	1.00
R7027:Tek	UTSW	4	94865510	missense	probably damaging	1.00
R7108:Tek	UTSW	4	94853487	missense	probably damaging	1.00
R7121:Tek	UTSW	4	94811410	missense	probably benign	0.19
R7220:Tek	UTSW	4	94804304	missense	probably damaging	1.00
R7346:Tek	UTSW	4	94827296	missense	probably benign
R7417:Tek	UTSW	4	94811345	missense	probably benign
R7465:Tek	UTSW	4	94827826	critical splice donor site	probably null
R7818:Tek	UTSW	4	94827716	missense	possibly damaging	0.67
R7917:Tek	UTSW	4	94820135	missense	possibly damaging	0.89
R7942:Tek	UTSW	4	94851874	splice site	probably null
R7956:Tek	UTSW	4	94799343	splice site	probably null
R8098:Tek	UTSW	4	94827670	missense	probably benign	0.19
R8442:Tek	UTSW	4	94827685	missense	probably benign	0.04
R8523:Tek	UTSW	4	94799166	missense	probably benign	0.12
R8787:Tek	UTSW	4	94849800	missense	probably damaging	1.00
R9020:Tek	UTSW	4	94820102	missense	probably benign	0.40
R9172:Tek	UTSW	4	94804346	missense	probably benign	0.02
R9429:Tek	UTSW	4	94827278	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCACTGACTCCACAGCTATGG -3'
(R):5'- CTTAGACTATTGAATGGGATGTGTC -3'

Sequencing Primer
(F):5'- CACAGCTATGGTTTCTTGGACAATAG -3'
(R):5'- ACTATTGAATGGGATGTGTCTTAGGC -3'

Posted On

2021-03-08