Incidental Mutation 'R4717:Tie1'
ID 354113
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 041984-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4717 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 118328388-118347046 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118343414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 150 (K150E)
Ref Sequence ENSEMBL: ENSMUSP00000139279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047421] [ENSMUST00000184261]
AlphaFold Q06806
Predicted Effect probably benign
Transcript: ENSMUST00000047421
AA Change: K150E

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000037129
Gene: ENSMUSG00000033191
AA Change: K150E

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: ENSMUST00000117834
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153286
Predicted Effect probably damaging
Transcript: ENSMUST00000184261
AA Change: K150E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139279
Gene: ENSMUSG00000033191
AA Change: K150E

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T C 10: 29,097,783 (GRCm39) L60P probably damaging Het
Acsf2 T G 11: 94,450,372 (GRCm39) M512L probably benign Het
Ahrr T A 13: 74,363,885 (GRCm39) H312L probably benign Het
Akr1c18 T C 13: 4,186,717 (GRCm39) M244V probably benign Het
Aldh3b2 A G 19: 4,031,128 (GRCm39) Y459C probably damaging Het
Arhgap29 A T 3: 121,803,607 (GRCm39) I796L possibly damaging Het
Arrdc4 T A 7: 68,391,406 (GRCm39) D287V probably damaging Het
Astn2 A T 4: 65,562,991 (GRCm39) I930N possibly damaging Het
Bace2 T A 16: 97,238,073 (GRCm39) L508Q probably damaging Het
Baz2a G T 10: 127,960,811 (GRCm39) C1537F possibly damaging Het
Cad A G 5: 31,224,030 (GRCm39) probably null Het
Capn5 A T 7: 97,773,126 (GRCm39) I626N probably benign Het
Car8 A T 4: 8,169,685 (GRCm39) N274K probably damaging Het
Casp14 T C 10: 78,550,958 (GRCm39) I76V probably benign Het
Ccdc88c A G 12: 100,882,925 (GRCm39) V1649A probably benign Het
Cemip A T 7: 83,596,488 (GRCm39) I1092N probably damaging Het
Clspn A G 4: 126,453,849 (GRCm39) N91D probably damaging Het
Cpxm2 A G 7: 131,656,574 (GRCm39) Y563H possibly damaging Het
Csnk1g2 T C 10: 80,473,749 (GRCm39) V72A probably benign Het
Cyp46a1 T C 12: 108,318,285 (GRCm39) probably null Het
Cyp4x1 T C 4: 114,978,902 (GRCm39) H206R probably benign Het
Dapk1 T A 13: 60,874,476 (GRCm39) probably null Het
Ddx1 A G 12: 13,290,888 (GRCm39) W76R probably damaging Het
Dhx29 G A 13: 113,083,469 (GRCm39) R508H unknown Het
Dnah2 T C 11: 69,320,183 (GRCm39) D3962G probably benign Het
Dnajc14 T A 10: 128,642,113 (GRCm39) C12S possibly damaging Het
Dock1 T C 7: 134,449,899 (GRCm39) I804T probably damaging Het
Efs G T 14: 55,157,801 (GRCm39) S170Y probably damaging Het
Eml4 G T 17: 83,755,654 (GRCm39) W295C probably benign Het
Fkbp15 A G 4: 62,226,306 (GRCm39) S748P probably damaging Het
Ghr T G 15: 3,349,235 (GRCm39) I648L possibly damaging Het
Gigyf1 T A 5: 137,523,494 (GRCm39) I942N probably damaging Het
Gpam T A 19: 55,064,046 (GRCm39) E682D probably benign Het
Gsr A T 8: 34,183,886 (GRCm39) K383* probably null Het
Hapln1 C A 13: 89,753,579 (GRCm39) S248R probably benign Het
Haus2 G T 2: 120,449,583 (GRCm39) R209L probably benign Het
Hhatl A G 9: 121,618,943 (GRCm39) F63S probably damaging Het
Hmcn1 A G 1: 150,494,816 (GRCm39) M4091T probably benign Het
Hspb7 A G 4: 141,149,896 (GRCm39) D94G probably damaging Het
Irf6 T A 1: 192,849,742 (GRCm39) probably null Het
Itgb2 T A 10: 77,381,878 (GRCm39) L60* probably null Het
Jmjd1c C T 10: 66,993,830 (GRCm39) Q104* probably null Het
Kcnh1 A G 1: 191,959,025 (GRCm39) D193G probably damaging Het
Klhl25 G T 7: 75,516,528 (GRCm39) C478F probably damaging Het
Klhl3 T C 13: 58,178,330 (GRCm39) D267G probably damaging Het
L3mbtl4 T G 17: 68,762,708 (GRCm39) H80Q probably null Het
Lhcgr C A 17: 89,049,895 (GRCm39) V544F probably benign Het
Mfsd4a T C 1: 131,985,633 (GRCm39) N168D probably benign Het
Mmp3 A G 9: 7,449,881 (GRCm39) Q255R possibly damaging Het
Mrgprb3 C A 7: 48,293,000 (GRCm39) G184C probably benign Het
Mtpap C T 18: 4,396,394 (GRCm39) A562V possibly damaging Het
Nid1 T C 13: 13,681,086 (GRCm39) V1072A probably benign Het
Nsf T G 11: 103,714,595 (GRCm39) K728T probably damaging Het
Or10ak7 T C 4: 118,791,626 (GRCm39) N140D probably benign Het
Or12j3 T C 7: 139,953,328 (GRCm39) N65S probably damaging Het
Or1e17 T A 11: 73,831,641 (GRCm39) S190T possibly damaging Het
Or2a5 T C 6: 42,874,158 (GRCm39) Y258H probably damaging Het
Or4k15b A T 14: 50,272,821 (GRCm39) V13E probably damaging Het
Pcsk5 A T 19: 17,502,631 (GRCm39) C894S probably damaging Het
Pde2a A G 7: 101,143,879 (GRCm39) D166G probably benign Het
Pfpl G A 19: 12,406,618 (GRCm39) E290K probably benign Het
Pi4kb A C 3: 94,906,162 (GRCm39) I570L probably damaging Het
Plxnb2 A T 15: 89,041,622 (GRCm39) C1727* probably null Het
Poln A T 5: 34,286,792 (GRCm39) D125E possibly damaging Het
Pomgnt1 A G 4: 116,011,412 (GRCm39) D259G possibly damaging Het
Prx A T 7: 27,216,152 (GRCm39) M218L probably benign Het
Pxn A T 5: 115,690,001 (GRCm39) Q342L probably damaging Het
Rhpn2 A G 7: 35,033,775 (GRCm39) D3G possibly damaging Het
Rnase2b C T 14: 51,400,174 (GRCm39) T85I possibly damaging Het
Rnaseh2b C A 14: 62,591,075 (GRCm39) T142K probably damaging Het
Sacs T C 14: 61,450,304 (GRCm39) S4117P probably damaging Het
Sdk2 T C 11: 113,745,195 (GRCm39) N700S probably damaging Het
Sec62 A C 3: 30,864,020 (GRCm39) K101Q unknown Het
Sel1l2 A C 2: 140,071,943 (GRCm39) L659R possibly damaging Het
Septin11 A G 5: 93,304,815 (GRCm39) I211V possibly damaging Het
Slc25a42 C T 8: 70,642,107 (GRCm39) E112K probably damaging Het
Spem2 T C 11: 69,708,609 (GRCm39) N119D probably benign Het
Themis G A 10: 28,665,748 (GRCm39) E604K probably benign Het
Top6bl A G 19: 4,675,901 (GRCm39) probably benign Het
Ubap2 G A 4: 41,218,333 (GRCm39) T258I possibly damaging Het
Ushbp1 C T 8: 71,838,313 (GRCm39) A664T probably damaging Het
Vmn1r1 T C 1: 181,984,774 (GRCm39) N297S possibly damaging Het
Vmn1r173 A C 7: 23,402,637 (GRCm39) I291L probably damaging Het
Yy1 A G 12: 108,759,972 (GRCm39) I212V possibly damaging Het
Zfp442 A T 2: 150,250,149 (GRCm39) F527L probably damaging Het
Zyg11b T A 4: 108,099,069 (GRCm39) H632L 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
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
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'- CAGGCTCCTGGTCCTTTTAG -3'
(R):5'- CTCTATGTGCACAACAGCCCAG -3'

Sequencing Primer
(F):5'- AGGCTCCTGGTCCTTTTAGTACAG -3'
(R):5'- AGGGGGTGAGTCTGGCCTAC -3'
Posted On 2015-10-21