Mutagenetix > Incidental Mutation

Incidental Mutation 'R0609:Tie1'

54505

Institutional Source

Beutler Lab

Gene Symbol

Tie1

Ensembl Gene

ENSMUSG00000033191

Gene Name

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

Synonyms

D430008P04Rik, tie-1, TIE

MMRRC Submission

038798-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0609 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118328388-118347046 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118333344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 841 (I841L)

Ref Sequence

ENSEMBL: ENSMUSP00000037129 (fasta)

Gene Model

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

AlphaFold

Q06806

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047421
AA Change: I841L

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000037129
Gene: ENSMUSG00000033191
AA Change: I841L

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	A	T	14: 35,533,418 (GRCm39)		probably null	Het
Abcb4	T	A	5: 8,997,376 (GRCm39)	C952S	probably damaging	Het
Adamtsl2	A	G	2: 26,979,647 (GRCm39)	D272G	probably benign	Het
Aim2	G	A	1: 173,289,530 (GRCm39)	D158N	probably damaging	Het
Aldh3b1	C	T	19: 3,964,024 (GRCm39)	R426H	probably damaging	Het
Apoc2	A	G	7: 19,407,278 (GRCm39)	S28P	probably benign	Het
Arfgef3	G	A	10: 18,473,179 (GRCm39)	T1628I	probably benign	Het
Atp10a	G	A	7: 58,469,488 (GRCm39)		probably null	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Bmp8b	T	A	4: 123,015,692 (GRCm39)	D226E	probably benign	Het
Brsk2	T	C	7: 141,552,229 (GRCm39)	Y618H	probably damaging	Het
Casp12	T	A	9: 5,346,554 (GRCm39)	F27Y	probably damaging	Het
Casp8	T	A	1: 58,883,951 (GRCm39)	N439K	probably benign	Het
Ccdc175	T	A	12: 72,204,281 (GRCm39)	K253N	probably benign	Het
Cdc42bpa	A	G	1: 179,867,744 (GRCm39)	H193R	probably damaging	Het
Cdk17	T	C	10: 93,052,334 (GRCm39)	M105T	probably benign	Het
Cdon	C	A	9: 35,389,907 (GRCm39)	P854T	probably damaging	Het
Cep44	A	G	8: 56,997,187 (GRCm39)	M117T	possibly damaging	Het
Cep89	A	T	7: 35,134,955 (GRCm39)	E674D	probably damaging	Het
Cit	C	T	5: 116,012,002 (GRCm39)	A203V	probably damaging	Het
Clstn1	C	A	4: 149,713,757 (GRCm39)		probably null	Het
Col7a1	T	A	9: 108,787,215 (GRCm39)	D565E	unknown	Het
Cpb1	T	A	3: 20,316,638 (GRCm39)	Y304F	probably damaging	Het
Cps1	T	G	1: 67,211,961 (GRCm39)	Y710D	probably damaging	Het
Creb3l1	T	C	2: 91,817,398 (GRCm39)	T372A	possibly damaging	Het
Dars1	A	G	1: 128,333,118 (GRCm39)	V102A	probably benign	Het
Dhx35	C	T	2: 158,659,335 (GRCm39)	T168I	possibly damaging	Het
Dnah5	T	C	15: 28,327,925 (GRCm39)	S2100P	probably benign	Het
Dst	T	C	1: 34,306,041 (GRCm39)		probably null	Het
Egflam	A	C	15: 7,283,004 (GRCm39)	L351R	possibly damaging	Het
Elp2	T	A	18: 24,759,213 (GRCm39)	D523E	probably benign	Het
Exo5	C	A	4: 120,778,881 (GRCm39)	G328V	probably damaging	Het
Fut9	A	G	4: 25,620,811 (GRCm39)	M1T	probably null	Het
Galnt5	A	G	2: 57,914,637 (GRCm39)	N584S	possibly damaging	Het
Gbp3	T	C	3: 142,273,533 (GRCm39)	V360A	probably damaging	Het
Gdf6	G	A	4: 9,859,977 (GRCm39)	C353Y	probably damaging	Het
Hace1	A	G	10: 45,524,965 (GRCm39)	T244A	probably damaging	Het
Hr	T	C	14: 70,797,097 (GRCm39)	I500T	probably benign	Het
Ifnl2	A	T	7: 28,208,707 (GRCm39)	L115Q	probably damaging	Het
Iigp1	T	C	18: 60,522,896 (GRCm39)	F5L	probably benign	Het
Inhbb	A	G	1: 119,345,146 (GRCm39)	L381P	probably damaging	Het
Irx3	A	T	8: 92,527,721 (GRCm39)	S50T	probably benign	Het
Ivns1abp	C	T	1: 151,235,896 (GRCm39)	T363I	probably benign	Het
Izumo1	A	T	7: 45,272,323 (GRCm39)	T35S	probably benign	Het
Kank4	A	G	4: 98,665,342 (GRCm39)	S651P	probably damaging	Het
Kit	T	C	5: 75,771,539 (GRCm39)	V232A	probably benign	Het
Klhl11	T	C	11: 100,354,540 (GRCm39)	Y427C	probably damaging	Het
Laptm4b	T	A	15: 34,258,835 (GRCm39)	N36K	probably damaging	Het
Lrrk1	T	C	7: 65,916,363 (GRCm39)		probably null	Het
Mamdc4	G	T	2: 25,454,205 (GRCm39)	Q1042K	probably benign	Het
Mical2	A	G	7: 111,920,647 (GRCm39)		probably null	Het
Ms4a3	C	A	19: 11,608,725 (GRCm39)	V176F	possibly damaging	Het
Myo3a	T	C	2: 22,338,324 (GRCm39)	V427A	probably benign	Het
Myo3a	A	C	2: 22,401,110 (GRCm39)	E626D	possibly damaging	Het
Nckap5	A	T	1: 125,955,025 (GRCm39)	L509*	probably null	Het
Ndufa5	A	T	6: 24,519,248 (GRCm39)	D64E	possibly damaging	Het
Nedd4l	T	C	18: 65,341,532 (GRCm39)	Y753H	probably damaging	Het
Nynrin	T	C	14: 56,110,218 (GRCm39)	V1775A	probably damaging	Het
Oplah	A	G	15: 76,187,192 (GRCm39)	S570P	probably benign	Het
Or14c39	T	C	7: 86,344,084 (GRCm39)	V140A	possibly damaging	Het
Or2ag1b	A	T	7: 106,288,205 (GRCm39)	H244Q	probably damaging	Het
Or4q3	T	C	14: 50,583,383 (GRCm39)	Y141C	probably damaging	Het
Or5t18	A	G	2: 86,637,205 (GRCm39)	L46S	probably damaging	Het
Or9r3	G	A	10: 129,948,449 (GRCm39)	S70F	probably damaging	Het
Osbpl11	C	A	16: 33,054,814 (GRCm39)	Y632*	probably null	Het
Osbpl5	A	T	7: 143,248,558 (GRCm39)	L644Q	probably damaging	Het
Pcdhb19	T	C	18: 37,631,005 (GRCm39)	W267R	probably benign	Het
Pkhd1l1	A	C	15: 44,330,820 (GRCm39)	S132R	possibly damaging	Het
Pramel23	A	T	4: 143,425,073 (GRCm39)	D123E	probably benign	Het
Ptpn13	T	A	5: 103,704,011 (GRCm39)	S1348T	probably benign	Het
Rc3h1	T	A	1: 160,757,705 (GRCm39)	W8R	probably damaging	Het
Rgs3	T	G	4: 62,544,173 (GRCm39)	V315G	probably damaging	Het
Rora	T	A	9: 69,269,151 (GRCm39)	M82K	probably damaging	Het
Rph3al	T	C	11: 75,799,795 (GRCm39)	I55V	probably benign	Het
Sag	T	C	1: 87,740,713 (GRCm39)	V45A	probably damaging	Het
Scn3a	T	C	2: 65,366,854 (GRCm39)	E56G	probably damaging	Het
Sec24c	T	G	14: 20,737,016 (GRCm39)	V324G	probably damaging	Het
Sptbn1	A	G	11: 30,088,979 (GRCm39)	L748S	probably damaging	Het
Stard9	A	T	2: 120,536,787 (GRCm39)	D4186V	probably damaging	Het
Stk39	T	C	2: 68,196,511 (GRCm39)	E306G	probably damaging	Het
Sycp1	C	A	3: 102,806,165 (GRCm39)		probably null	Het
Taf2	A	C	15: 54,923,446 (GRCm39)	L277R	probably damaging	Het
Tasor	C	T	14: 27,183,707 (GRCm39)	T722I	probably benign	Het
Tbc1d23	T	A	16: 56,993,469 (GRCm39)	I566F	possibly damaging	Het
Tekt5	T	C	16: 10,179,168 (GRCm39)	T400A	possibly damaging	Het
Tgfbrap1	T	C	1: 43,099,301 (GRCm39)	H401R	probably benign	Het
Tln1	T	G	4: 43,544,645 (GRCm39)	T1095P	possibly damaging	Het
Tmem147	A	G	7: 30,427,527 (GRCm39)	Y72H	probably benign	Het
Tnfaip2	A	G	12: 111,419,941 (GRCm39)	N691S	probably benign	Het
Trim24	G	A	6: 37,934,718 (GRCm39)	C811Y	probably damaging	Het
Trim30b	T	A	7: 104,007,183 (GRCm39)		probably benign	Het
Trpc4	T	G	3: 54,102,189 (GRCm39)	L29R	probably damaging	Het
Trpm6	A	T	19: 18,803,226 (GRCm39)	I890F	probably damaging	Het
Ttc23l	C	T	15: 10,504,622 (GRCm39)	E442K	probably benign	Het
Tut7	A	T	13: 59,947,596 (GRCm39)	C506*	probably null	Het
Uggt2	A	G	14: 119,332,748 (GRCm39)	V62A	probably damaging	Het
Ugt1a6a	C	A	1: 88,066,606 (GRCm39)	S137R	probably benign	Het
Unc13a	A	G	8: 72,111,111 (GRCm39)	Y367H	probably damaging	Het
Vmn2r49	A	G	7: 9,710,233 (GRCm39)	I833T	probably benign	Het
Vmn2r7	T	C	3: 64,623,900 (GRCm39)	D231G	probably benign	Het
Ythdc2	A	T	18: 44,997,424 (GRCm39)	M994L	probably benign	Het
Zfp804a	G	A	2: 82,087,932 (GRCm39)	S587N	probably damaging	Het
Zswim2	A	G	2: 83,754,003 (GRCm39)	I219T	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAAATGAACTCAGGGCTCACCTCG -3'
(R):5'- ATACCTGTGGCTGTCACCTGTGTC -3'

Sequencing Primer
(F):5'- TCACCTGCAAAGTCTCGATGG -3'
(R):5'- CTGACTATCTGTCTAACCACTGG -3'

Posted On

2013-07-11