Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01892:Tie1'

179271

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tie1

Ensembl Gene

ENSMUSG00000033191

Gene Name

tyrosine kinase with immunoglobulin-like and EGF-like domains 1

Synonyms

D430008P04Rik, tie-1, TIE

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01892

Quality Score

Status

Chromosome

Chromosomal Location

118328388-118347046 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118333115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 871 (Y871F)

Ref Sequence

ENSEMBL: ENSMUSP00000037129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047421] [ENSMUST00000184261]

AlphaFold

Q06806

Predicted Effect

probably benign
Transcript: ENSMUST00000047421
AA Change: Y871F

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

SMART Domains

Protein: ENSMUSP00000037129
Gene: ENSMUSG00000033191
AA Change: Y871F

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
IG	129	211	1.58e-1	SMART
EGF	221	254	1.47e-3	SMART
EGF_like	265	301	7.23e1	SMART
EGF	312	343	8.52e0	SMART
IG	355	442	1.92e0	SMART
FN3	445	528	2.68e-2	SMART
FN3	544	627	4.1e0	SMART
FN3	640	722	6.95e-10	SMART
transmembrane domain	760	782	N/A	INTRINSIC
TyrKc	835	1103	5.05e-134	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153286

Predicted Effect

probably benign
Transcript: ENSMUST00000184261

SMART Domains

Protein: ENSMUSP00000139279
Gene: ENSMUSG00000033191

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
IG	129	211	1.58e-1	SMART
EGF	221	254	1.47e-3	SMART
EGF_like	265	301	7.23e1	SMART
EGF	312	343	8.52e0	SMART
IG	355	442	1.92e0	SMART
FN3	445	528	2.68e-2	SMART
FN3	544	627	4.1e0	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 member of the tyrosine protein kinase family. The encoded protein plays a critical role in angiogenesis and blood vessel stability by inhibiting angiopoietin 1 signaling through the endothelial receptor tyrosine kinase Tie2. Ectodomain cleavage of the encoded protein relieves inhibition of Tie2 and is mediated by multiple factors including vascular endothelial growth factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous mutation of this gene results in embryonic or neonatal lethality, hemorrhages, edema, increased vascular branching, and abnormal vascular endothelial cell development. Mice homozygous for a hypomorphic allele exhibit dilated and disorganized lymphatic vessel, edema, and hemorrhage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cplane1	A	T	15: 8,271,749 (GRCm39)		probably benign	Het
Cyp2c68	T	A	19: 39,722,788 (GRCm39)	E253D	probably benign	Het
Gbp2b	A	G	3: 142,309,381 (GRCm39)	D164G	probably benign	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Lct	G	T	1: 128,235,342 (GRCm39)	T555N	probably damaging	Het
Ncam2	T	A	16: 81,386,587 (GRCm39)	H655Q	possibly damaging	Het
Or52a24	A	T	7: 103,381,687 (GRCm39)	M185L	possibly damaging	Het
Or8b57	C	A	9: 40,004,114 (GRCm39)	L45F	probably damaging	Het
Pglyrp4	A	G	3: 90,646,348 (GRCm39)	N293S	probably benign	Het
Pofut2	C	A	10: 77,101,717 (GRCm39)	D251E	probably benign	Het
Prdm2	T	C	4: 142,860,974 (GRCm39)	E772G	probably damaging	Het
Prkd3	A	T	17: 79,279,930 (GRCm39)	D254E	probably benign	Het
Prr36	G	A	8: 4,265,243 (GRCm39)	P169L	probably damaging	Het
Pwp2	T	C	10: 78,014,841 (GRCm39)	Y381C	probably damaging	Het
Rasgrp1	G	A	2: 117,124,323 (GRCm39)	T293M	probably damaging	Het
Snd1	G	A	6: 28,888,123 (GRCm39)		probably null	Het
Suclg2	A	T	6: 95,556,169 (GRCm39)	D237E	probably damaging	Het
Tenm3	T	C	8: 48,729,431 (GRCm39)	N1509S	probably benign	Het
Thbd	A	T	2: 148,248,988 (GRCm39)	H293Q	possibly damaging	Het
Vmn1r38	A	T	6: 66,753,360 (GRCm39)	V252D	probably benign	Het
Vmn1r60	C	A	7: 5,547,309 (GRCm39)	V264F	probably benign	Het
Vmn1r68	T	C	7: 10,261,334 (GRCm39)	T255A	possibly damaging	Het
Vmn2r49	A	T	7: 9,718,690 (GRCm39)	V458E	probably benign	Het
Vmn2r9	A	T	5: 108,995,700 (GRCm39)	V316D	probably damaging	Het
Wfdc15b	A	T	2: 164,057,388 (GRCm39)	M1K	probably null	Het

Other mutations in Tie1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:Tie1	APN	4	118,333,295 (GRCm39)	missense	probably damaging	1.00
IGL01679:Tie1	APN	4	118,339,936 (GRCm39)	missense	probably benign	0.00
IGL01821:Tie1	APN	4	118,341,835 (GRCm39)	missense	probably damaging	0.99
IGL02101:Tie1	APN	4	118,329,995 (GRCm39)	missense	probably benign	0.42
IGL02411:Tie1	APN	4	118,343,760 (GRCm39)	nonsense	probably null
IGL02421:Tie1	APN	4	118,343,591 (GRCm39)	missense	probably damaging	1.00
IGL02892:Tie1	APN	4	118,343,479 (GRCm39)	missense	probably damaging	1.00
IGL03294:Tie1	APN	4	118,337,420 (GRCm39)	missense	probably damaging	1.00
IGL03346:Tie1	APN	4	118,330,025 (GRCm39)	missense	probably damaging	1.00
R0064:Tie1	UTSW	4	118,346,898 (GRCm39)	missense	possibly damaging	0.94
R0067:Tie1	UTSW	4	118,333,477 (GRCm39)	splice site	probably benign
R0080:Tie1	UTSW	4	118,341,550 (GRCm39)	missense	probably damaging	1.00
R0082:Tie1	UTSW	4	118,341,550 (GRCm39)	missense	probably damaging	1.00
R0098:Tie1	UTSW	4	118,343,784 (GRCm39)	missense	probably benign
R0329:Tie1	UTSW	4	118,341,924 (GRCm39)	missense	probably benign	0.24
R0330:Tie1	UTSW	4	118,341,924 (GRCm39)	missense	probably benign	0.24
R0410:Tie1	UTSW	4	118,337,766 (GRCm39)	missense	probably damaging	1.00
R0472:Tie1	UTSW	4	118,333,344 (GRCm39)	missense	possibly damaging	0.61
R0498:Tie1	UTSW	4	118,336,358 (GRCm39)	utr 3 prime	probably benign
R0521:Tie1	UTSW	4	118,333,343 (GRCm39)	missense	probably damaging	1.00
R0609:Tie1	UTSW	4	118,333,344 (GRCm39)	missense	possibly damaging	0.61
R0675:Tie1	UTSW	4	118,336,966 (GRCm39)	nonsense	probably null
R0830:Tie1	UTSW	4	118,339,860 (GRCm39)	missense	probably damaging	1.00
R1541:Tie1	UTSW	4	118,341,070 (GRCm39)	missense	probably damaging	0.99
R1604:Tie1	UTSW	4	118,331,604 (GRCm39)	missense	probably damaging	1.00
R1731:Tie1	UTSW	4	118,333,460 (GRCm39)	missense	probably damaging	1.00
R1751:Tie1	UTSW	4	118,333,373 (GRCm39)	missense	possibly damaging	0.87
R1767:Tie1	UTSW	4	118,333,373 (GRCm39)	missense	possibly damaging	0.87
R1953:Tie1	UTSW	4	118,329,987 (GRCm39)	critical splice donor site	probably null
R1986:Tie1	UTSW	4	118,336,160 (GRCm39)	missense	probably benign
R2141:Tie1	UTSW	4	118,330,008 (GRCm39)	nonsense	probably null
R3150:Tie1	UTSW	4	118,333,022 (GRCm39)	missense	probably damaging	1.00
R4235:Tie1	UTSW	4	118,335,602 (GRCm39)	nonsense	probably null
R4599:Tie1	UTSW	4	118,329,831 (GRCm39)	missense	probably benign	0.00
R4614:Tie1	UTSW	4	118,336,248 (GRCm39)	missense	probably damaging	1.00
R4623:Tie1	UTSW	4	118,343,808 (GRCm39)	missense	possibly damaging	0.71
R4638:Tie1	UTSW	4	118,341,039 (GRCm39)	missense	probably benign	0.00
R4717:Tie1	UTSW	4	118,343,414 (GRCm39)	missense	probably damaging	1.00
R4936:Tie1	UTSW	4	118,341,968 (GRCm39)	splice site	silent
R4983:Tie1	UTSW	4	118,340,952 (GRCm39)	missense	probably damaging	1.00
R5202:Tie1	UTSW	4	118,337,707 (GRCm39)	missense	probably benign	0.01
R5234:Tie1	UTSW	4	118,339,959 (GRCm39)	missense	probably benign	0.22
R5243:Tie1	UTSW	4	118,339,548 (GRCm39)	missense	probably damaging	0.99
R5538:Tie1	UTSW	4	118,343,390 (GRCm39)	missense	probably benign	0.10
R5881:Tie1	UTSW	4	118,332,800 (GRCm39)	missense	possibly damaging	0.89
R6045:Tie1	UTSW	4	118,341,888 (GRCm39)	missense	probably benign	0.05
R6073:Tie1	UTSW	4	118,339,587 (GRCm39)	missense	probably benign
R6476:Tie1	UTSW	4	118,330,062 (GRCm39)	missense	possibly damaging	0.82
R6820:Tie1	UTSW	4	118,341,583 (GRCm39)	missense	probably damaging	1.00
R6961:Tie1	UTSW	4	118,343,402 (GRCm39)	missense	probably damaging	1.00
R7022:Tie1	UTSW	4	118,346,850 (GRCm39)	missense	probably benign	0.00
R7029:Tie1	UTSW	4	118,341,823 (GRCm39)	missense	possibly damaging	0.93
R7147:Tie1	UTSW	4	118,341,610 (GRCm39)	missense	probably damaging	1.00
R7249:Tie1	UTSW	4	118,343,425 (GRCm39)	missense	probably benign	0.29
R7410:Tie1	UTSW	4	118,337,074 (GRCm39)	missense	probably benign
R7486:Tie1	UTSW	4	118,337,101 (GRCm39)	critical splice acceptor site	probably null
R7637:Tie1	UTSW	4	118,330,175 (GRCm39)	missense	probably damaging	1.00
R7737:Tie1	UTSW	4	118,336,054 (GRCm39)	splice site	probably null
R7878:Tie1	UTSW	4	118,335,621 (GRCm39)	missense	probably damaging	1.00
R8012:Tie1	UTSW	4	118,343,678 (GRCm39)	missense	possibly damaging	0.77
R8478:Tie1	UTSW	4	118,341,979 (GRCm39)	splice site	probably null
R8716:Tie1	UTSW	4	118,339,935 (GRCm39)	missense	possibly damaging	0.76
R9075:Tie1	UTSW	4	118,341,356 (GRCm39)	missense	possibly damaging	0.93
R9347:Tie1	UTSW	4	118,341,867 (GRCm39)	missense	possibly damaging	0.68
R9361:Tie1	UTSW	4	118,336,829 (GRCm39)	missense	probably benign	0.00
R9409:Tie1	UTSW	4	118,339,945 (GRCm39)	missense	probably damaging	1.00
R9468:Tie1	UTSW	4	118,333,376 (GRCm39)	missense	probably damaging	1.00
R9530:Tie1	UTSW	4	118,343,817 (GRCm39)	missense	possibly damaging	0.64
R9545:Tie1	UTSW	4	118,336,112 (GRCm39)	missense	probably benign
R9615:Tie1	UTSW	4	118,347,032 (GRCm39)	unclassified	probably benign
R9733:Tie1	UTSW	4	118,330,183 (GRCm39)	missense	probably null	1.00
Z1088:Tie1	UTSW	4	118,341,626 (GRCm39)	missense	probably damaging	1.00
Z1176:Tie1	UTSW	4	118,331,374 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07