Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03346:Tie1'

417453

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 #

IGL03346

Quality Score

Status

Chromosome

Chromosomal Location

118328388-118347046 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118330025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1066 (Y1066C)

Ref Sequence

ENSEMBL: ENSMUSP00000037129 (fasta)

Gene Model

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

AlphaFold

Q06806

Predicted Effect

probably damaging
Transcript: ENSMUST00000047421
AA Change: Y1066C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037129
Gene: ENSMUSG00000033191
AA Change: Y1066C

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a5	C	T	16: 29,133,422 (GRCm39)	V410M	probably benign	Het
Cdkn2aip	G	T	8: 48,166,653 (GRCm39)	D51E	probably benign	Het
Chd6	A	G	2: 160,802,282 (GRCm39)	V2184A	probably benign	Het
Clcn1	C	T	6: 42,288,153 (GRCm39)	T797I	probably benign	Het
Cldn23	G	A	8: 36,292,594 (GRCm39)		probably benign	Het
Cntnap4	A	G	8: 113,500,208 (GRCm39)	D500G	probably benign	Het
Cog5	A	T	12: 31,944,037 (GRCm39)	I641F	possibly damaging	Het
Cr2	A	T	1: 194,852,067 (GRCm39)	V94E	probably damaging	Het
Creg2	T	G	1: 39,689,915 (GRCm39)	D65A	probably damaging	Het
Dennd4a	A	G	9: 64,795,808 (GRCm39)	R711G	possibly damaging	Het
Efr3b	A	G	12: 4,034,648 (GRCm39)	V58A	probably damaging	Het
Fbxo3	A	G	2: 103,880,639 (GRCm39)	T250A	probably damaging	Het
Fzr1	T	C	10: 81,205,018 (GRCm39)	T300A	probably benign	Het
Gabrg1	A	T	5: 70,935,474 (GRCm39)	Y227N	possibly damaging	Het
Gins3	A	G	8: 96,369,903 (GRCm39)	I197V	probably benign	Het
Gm17079	T	C	14: 51,930,420 (GRCm39)	T142A	possibly damaging	Het
Gna15	T	C	10: 81,338,879 (GRCm39)	Y320C	probably damaging	Het
H2-T5	C	A	17: 36,479,001 (GRCm39)	D83Y	probably damaging	Het
Hibch	G	A	1: 52,959,539 (GRCm39)		probably benign	Het
Kif5b	G	A	18: 6,222,767 (GRCm39)	R355W	probably damaging	Het
Klf1	T	C	8: 85,629,561 (GRCm39)	S129P	probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Nat8f5	A	G	6: 85,794,640 (GRCm39)	S107P	probably damaging	Het
Or2t49	A	G	11: 58,392,581 (GRCm39)	L267P	possibly damaging	Het
Or8g24	T	A	9: 38,989,258 (GRCm39)	Q261L	probably damaging	Het
Or8g24	C	A	9: 38,989,257 (GRCm39)	Q261H	probably benign	Het
Pcdhb18	G	A	18: 37,622,674 (GRCm39)	M1I	probably null	Het
Plcb3	A	G	19: 6,932,420 (GRCm39)	F1080L	probably benign	Het
Polr2g	T	C	19: 8,775,669 (GRCm39)	H14R	probably damaging	Het
Rp1l1	A	G	14: 64,266,889 (GRCm39)	D825G	probably benign	Het
Scn3a	G	A	2: 65,367,016 (GRCm39)	A2V	probably damaging	Het
Slc25a54	T	C	3: 108,993,046 (GRCm39)		probably benign	Het
Smad9	C	A	3: 54,696,636 (GRCm39)	Q234K	probably benign	Het
Traf1	T	C	2: 34,838,484 (GRCm39)	E118G	probably benign	Het
Ttc21b	T	C	2: 66,068,192 (GRCm39)	D278G	possibly damaging	Het
Uaca	C	A	9: 60,761,600 (GRCm39)	T204K	probably damaging	Het
Utrn	A	T	10: 12,401,096 (GRCm39)	Y154N	probably benign	Het
Virma	A	G	4: 11,518,984 (GRCm39)	T694A	probably benign	Het
Vmn2r50	T	C	7: 9,779,929 (GRCm39)	D500G	probably damaging	Het
Vmn2r59	T	A	7: 41,693,253 (GRCm39)	H449L	probably benign	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
IGL01892:Tie1	APN	4	118,333,115 (GRCm39)	missense	probably benign
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
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

2016-08-02