Incidental Mutation 'R0064:Tie1'
ID 34394
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 038356-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0064 (G1)
Quality Score 117
Status Validated
Chromosome 4
Chromosomal Location 118328388-118347046 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118346898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 2 (V2A)
Ref Sequence ENSEMBL: ENSMUSP00000139279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047421] [ENSMUST00000184261]
AlphaFold Q06806
Predicted Effect possibly damaging
Transcript: ENSMUST00000047421
AA Change: V2A

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000037129
Gene: ENSMUSG00000033191
AA Change: V2A

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 possibly damaging
Transcript: ENSMUST00000184261
AA Change: V2A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139279
Gene: ENSMUSG00000033191
AA Change: V2A

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 0.0959 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (55/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 G T 11: 110,035,698 (GRCm39) L641M probably damaging Het
Abca9 A C 11: 110,035,697 (GRCm39) L641R probably damaging Het
Abhd18 A G 3: 40,888,288 (GRCm39) I377M probably benign Het
Arhgef17 C A 7: 100,530,561 (GRCm39) M1408I probably benign Het
Bcl2a1a G C 9: 88,839,516 (GRCm39) G138A probably damaging Het
C4b A G 17: 34,957,830 (GRCm39) L617P probably damaging Het
Ccdc25 T A 14: 66,091,561 (GRCm39) I60K possibly damaging Het
Cdk1 T C 10: 69,180,907 (GRCm39) D101G probably benign Het
Cdon A G 9: 35,400,523 (GRCm39) H1079R probably benign Het
Cep126 A T 9: 8,130,183 (GRCm39) probably benign Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Crlf3 A G 11: 79,948,728 (GRCm39) I239T possibly damaging Het
Cstf2t T A 19: 31,060,699 (GRCm39) N78K probably damaging Het
Cul1 A G 6: 47,479,349 (GRCm39) probably benign Het
D430041D05Rik T G 2: 104,079,502 (GRCm39) T1194P probably damaging Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Fbxw14 A T 9: 109,116,660 (GRCm39) Y16* probably null Het
Fgd3 T G 13: 49,449,901 (GRCm39) D116A possibly damaging Het
Gm7168 C T 17: 14,170,121 (GRCm39) T496I probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Klhl5 T A 5: 65,298,631 (GRCm39) S137T probably benign Het
Knl1 T A 2: 118,906,724 (GRCm39) N1604K probably benign Het
Lpcat1 T A 13: 73,662,585 (GRCm39) N463K probably damaging Het
Lpl A G 8: 69,345,356 (GRCm39) H120R probably damaging Het
Man1a2 A T 3: 100,499,199 (GRCm39) S412T possibly damaging Het
Mcc C G 18: 44,652,583 (GRCm39) probably benign Het
Myo18a G T 11: 77,738,170 (GRCm39) R1704L probably damaging Het
Nlrc3 G T 16: 3,781,951 (GRCm39) T486K possibly damaging Het
Nrip1 T A 16: 76,091,558 (GRCm39) probably benign Het
Nutf2 A G 8: 106,605,441 (GRCm39) D92G probably damaging Het
Obscn A C 11: 58,918,292 (GRCm39) V6260G probably damaging Het
Or10a2 T C 7: 106,673,487 (GRCm39) F151L probably benign Het
Or2ak7 G A 11: 58,575,301 (GRCm39) V201M probably benign Het
Plce1 T C 19: 38,769,228 (GRCm39) probably null Het
Pmpca C A 2: 26,285,519 (GRCm39) D498E probably benign Het
Pnpla7 G T 2: 24,887,239 (GRCm39) E28* probably null Het
Polg C A 7: 79,111,632 (GRCm39) W206C probably damaging Het
Ptprt C T 2: 161,769,711 (GRCm39) probably benign Het
Slc7a14 T C 3: 31,281,209 (GRCm39) D367G probably damaging Het
Spata31 T C 13: 65,069,912 (GRCm39) Y687H probably damaging Het
Sybu T A 15: 44,536,389 (GRCm39) T646S probably benign Het
Thbs1 A T 2: 117,954,395 (GRCm39) probably null Het
Tma16 A T 8: 66,929,457 (GRCm39) I179K possibly damaging Het
Tns3 G A 11: 8,385,856 (GRCm39) Q1381* probably null Het
Trank1 A G 9: 111,172,263 (GRCm39) D84G probably damaging Het
Ttc3 A T 16: 94,223,106 (GRCm39) H197L possibly damaging Het
Urb1 A G 16: 90,576,028 (GRCm39) F843L probably benign Het
Vmn1r24 T G 6: 57,933,003 (GRCm39) I172L probably benign Het
Vmn2r1 T A 3: 64,012,209 (GRCm39) I690N possibly damaging Het
Vmn2r111 T A 17: 22,791,053 (GRCm39) I82L probably benign Het
Zfp287 A T 11: 62,605,764 (GRCm39) L370H possibly damaging Het
Zfp608 A T 18: 55,031,888 (GRCm39) I684N probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ACGCTATGACGACGACGATGATG -3'
(R):5'- AGGACTACAGGCGACAACTCTTCC -3'

Sequencing Primer
(F):5'- acatcaccacccatttccac -3'
(R):5'- GCGACAACTCTTCCCACCC -3'
Posted On 2013-05-09