Incidental Mutation 'IGL01419:Tie1'
ID 80316
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 # IGL01419
Quality Score
Status
Chromosome 4
Chromosomal Location 118328388-118347046 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118333295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 857 (D857G)
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: D857G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037129
Gene: ENSMUSG00000033191
AA Change: D857G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A T 2: 25,327,526 (GRCm39) T672S probably damaging Het
Adamts14 A T 10: 61,041,321 (GRCm39) probably benign Het
Adgrv1 T C 13: 81,705,277 (GRCm39) E791G probably damaging Het
Alkbh8 A G 9: 3,385,354 (GRCm39) R584G probably damaging Het
Apob A T 12: 8,052,251 (GRCm39) I1218F probably damaging Het
Atp5f1a T C 18: 77,865,233 (GRCm39) S52P probably damaging Het
B4galnt3 A G 6: 120,192,351 (GRCm39) S462P possibly damaging Het
Bdkrb1 A G 12: 105,571,040 (GRCm39) H202R possibly damaging Het
Bltp1 T C 3: 37,102,270 (GRCm39) S1323P probably damaging Het
Cd300lf T C 11: 115,017,180 (GRCm39) K48E probably benign Het
Cfhr4 T C 1: 139,667,382 (GRCm39) probably null Het
Chuk A T 19: 44,085,420 (GRCm39) I242K probably damaging Het
Csde1 A G 3: 102,946,086 (GRCm39) T27A probably damaging Het
D930048N14Rik C T 11: 51,545,603 (GRCm39) probably benign Het
Depdc7 A T 2: 104,552,455 (GRCm39) Y451N possibly damaging Het
Diaph3 C A 14: 87,202,989 (GRCm39) G623* probably null Het
Dlc1 T C 8: 37,317,371 (GRCm39) T435A probably benign Het
Dock8 A G 19: 25,096,816 (GRCm39) S575G probably benign Het
Fbxw22 T A 9: 109,210,790 (GRCm39) Y407F probably benign Het
Fzd4 C A 7: 89,056,943 (GRCm39) A330E probably damaging Het
Gm17415 A G 1: 93,349,672 (GRCm39) probably benign Het
Gnat1 C T 9: 107,556,633 (GRCm39) probably null Het
Gtf3c4 T C 2: 28,725,081 (GRCm39) Y76C probably damaging Het
Heatr5b G A 17: 79,103,939 (GRCm39) H1079Y probably benign Het
Helz T G 11: 107,577,340 (GRCm39) I1897S unknown Het
Hspa12a T C 19: 58,816,681 (GRCm39) probably null Het
Kcne1 G T 16: 92,145,534 (GRCm39) F103L probably benign Het
Lrrc20 A T 10: 61,383,874 (GRCm39) S94C probably damaging Het
Lrrc8a A G 2: 30,147,111 (GRCm39) T642A probably benign Het
Ly6g5b A G 17: 35,333,494 (GRCm39) L106P probably benign Het
Lyst A G 13: 13,810,423 (GRCm39) S698G probably benign Het
Ndrg1 A G 15: 66,802,900 (GRCm39) V334A probably benign Het
Neb A T 2: 52,116,545 (GRCm39) Y964* probably null Het
Or4c123 T C 2: 89,126,689 (GRCm39) probably benign Het
Or8k3 A T 2: 86,058,973 (GRCm39) I114N possibly damaging Het
Parp10 A G 15: 76,125,588 (GRCm39) F497L probably damaging Het
Pdss1 A G 2: 22,825,589 (GRCm39) M343V possibly damaging Het
Phactr3 C T 2: 177,920,855 (GRCm39) T231I probably benign Het
Plekhh2 A T 17: 84,890,980 (GRCm39) probably benign Het
Ppp1r12c A C 7: 4,489,351 (GRCm39) probably null Het
Prdm2 G T 4: 142,860,218 (GRCm39) P1024H probably damaging Het
Prkacb A T 3: 146,461,448 (GRCm39) M1K probably null Het
Prkdc C A 16: 15,653,030 (GRCm39) P3835Q probably damaging Het
Rps27a T C 11: 29,496,353 (GRCm39) T87A probably benign Het
Ryr2 T A 13: 11,814,723 (GRCm39) E683V possibly damaging Het
Sbk2 A G 7: 4,960,528 (GRCm39) L214P probably damaging Het
Sema4g A G 19: 44,985,835 (GRCm39) S250G probably benign Het
Slc27a6 T A 18: 58,742,281 (GRCm39) D498E probably benign Het
Tarbp1 T C 8: 127,154,894 (GRCm39) D1410G probably benign Het
Tas2r134 T A 2: 51,517,759 (GRCm39) Y79* probably null Het
Tnk2 A G 16: 32,499,498 (GRCm39) N432S probably damaging Het
Tubg2 C A 11: 101,049,883 (GRCm39) D176E probably benign Het
Ugt2b34 A T 5: 87,039,264 (GRCm39) W466R probably damaging Het
Usp47 T A 7: 111,687,118 (GRCm39) M692K possibly damaging Het
Vmn2r106 T C 17: 20,499,807 (GRCm39) K143E probably benign Het
Vmn2r118 G A 17: 55,900,000 (GRCm39) L635F probably benign Het
Vmn2r16 C T 5: 109,510,267 (GRCm39) probably benign Het
Vmn2r76 A T 7: 85,874,910 (GRCm39) M689K probably benign Het
Xkr6 T C 14: 64,056,325 (GRCm39) Y79H probably benign Het
Zdhhc6 A G 19: 55,298,186 (GRCm39) F224L probably benign Het
Zfp493 T G 13: 67,934,921 (GRCm39) I291M probably benign Het
Other mutations in Tie1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-11-05