Incidental Mutation 'R0080:Tie1'
ID 44227
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 038367-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0080 (G1)
Quality Score 211
Status Validated
Chromosome 4
Chromosomal Location 118328388-118347046 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118341550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 254 (E254V)
Ref Sequence ENSEMBL: ENSMUSP00000139279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047421] [ENSMUST00000184261]
AlphaFold Q06806
Predicted Effect probably damaging
Transcript: ENSMUST00000047421
AA Change: E254V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037129
Gene: ENSMUSG00000033191
AA Change: E254V

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 damaging
Transcript: ENSMUST00000184261
AA Change: E254V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139279
Gene: ENSMUSG00000033191
AA Change: E254V

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
Meta Mutation Damage Score 0.3225 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.6%
  • 10x: 93.1%
  • 20x: 79.7%
Validation Efficiency 88% (175/200)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732465J04Rik GATCTATCTATCTATCTATCTATCTATCTATCTATCTATC GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC 10: 95,630,440 (GRCm39) probably null Het
Adam17 A C 12: 21,379,049 (GRCm39) probably benign Het
Adcy1 T C 11: 7,099,497 (GRCm39) probably benign Het
Adgb T C 10: 10,253,583 (GRCm39) probably benign Het
Antkmt T C 17: 26,010,548 (GRCm39) I89V probably benign Het
Ccdc180 A G 4: 45,896,205 (GRCm39) D118G probably null Het
Coro7 A T 16: 4,448,328 (GRCm39) L714Q probably damaging Het
D2hgdh A G 1: 93,754,177 (GRCm39) Y50C probably damaging Het
Dsg1b T G 18: 20,530,424 (GRCm39) S360A probably damaging Het
Ednra T C 8: 78,401,688 (GRCm39) I201V probably benign Het
Ggt6 A G 11: 72,328,021 (GRCm39) T136A possibly damaging Het
Gnb5 A T 9: 75,221,636 (GRCm39) E28V possibly damaging Het
Golgb1 T C 16: 36,718,973 (GRCm39) L293P probably damaging Het
Gpr179 A G 11: 97,242,295 (GRCm39) V183A probably benign Het
Grk6 T C 13: 55,606,723 (GRCm39) S474P probably benign Het
Hectd4 A G 5: 121,487,435 (GRCm39) S3477G probably benign Het
Hoatz T C 9: 51,013,102 (GRCm39) T57A probably benign Het
Irx3 T C 8: 92,526,954 (GRCm39) D250G possibly damaging Het
Jsrp1 T G 10: 80,646,349 (GRCm39) M70L probably benign Het
Kcmf1 G T 6: 72,827,470 (GRCm39) probably null Het
Med23 T C 10: 24,788,715 (GRCm39) V1368A probably benign Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nos1 G T 5: 118,031,943 (GRCm39) C297F probably damaging Het
Oas1d G A 5: 121,054,955 (GRCm39) A176T possibly damaging Het
Odf2l A T 3: 144,830,084 (GRCm39) I19F possibly damaging Het
Or6c1b T C 10: 129,273,140 (GRCm39) I153T possibly damaging Het
Or6c209 G A 10: 129,483,522 (GRCm39) C175Y probably benign Het
Pfkfb2 A T 1: 130,642,279 (GRCm39) S5R probably benign Het
Pign G T 1: 105,480,130 (GRCm39) A848E probably damaging Het
Pomgnt2 A T 9: 121,811,326 (GRCm39) V485E probably damaging Het
Ryr2 T A 13: 11,583,361 (GRCm39) K4764N probably damaging Het
Scgb1b19 A G 7: 32,987,067 (GRCm39) T73A probably damaging Het
Slc35d3 T C 10: 19,724,944 (GRCm39) E304G probably damaging Het
Snta1 A G 2: 154,225,757 (GRCm39) V209A probably benign Het
Spdye4b A T 5: 143,181,430 (GRCm39) D95V probably damaging Het
Srek1 T C 13: 103,880,194 (GRCm39) T455A unknown Het
Tigd4 A G 3: 84,501,452 (GRCm39) H123R probably benign Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Trim60 C T 8: 65,453,251 (GRCm39) A333T probably damaging Het
Vmn2r82 A T 10: 79,232,339 (GRCm39) R779S probably benign Het
Wdr91 T C 6: 34,883,620 (GRCm39) R132G possibly damaging Het
Zfp445 A G 9: 122,681,421 (GRCm39) V840A probably damaging Het
Other mutations in Tie1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- AGGCAGAAGGTGAGACCTCTACAAC -3'
(R):5'- GCCACCATCAAGTGGCATCTACAG -3'

Sequencing Primer
(F):5'- GTGAGACCTCTACAACCTGCTG -3'
(R):5'- TGGCATCTACAGTGCCAC -3'
Posted On 2013-06-11