Incidental Mutation 'R3150:Tie1'
ID 271619
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 040602-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3150 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 118328388-118347046 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 118333022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 902 (A902V)
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: A902V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000037129
Gene: ENSMUSG00000033191
AA Change: A902V

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akna A T 4: 63,313,590 (GRCm39) S178T possibly damaging Het
Cabin1 A G 10: 75,492,745 (GRCm39) L1850P probably damaging Het
Ccdc178 G T 18: 22,200,709 (GRCm39) A416E possibly damaging Het
Ces1g C T 8: 94,052,444 (GRCm39) V282I probably benign Het
Col4a3 T G 1: 82,634,858 (GRCm39) probably null Het
Crat C T 2: 30,303,871 (GRCm39) probably null Het
Csf2ra C A 19: 61,215,758 (GRCm39) A16S possibly damaging Het
Cspg4b A T 13: 113,488,294 (GRCm39) Q105H probably damaging Het
Cyp4f18 T C 8: 72,747,044 (GRCm39) D317G possibly damaging Het
Ddb1 T A 19: 10,590,346 (GRCm39) M291K probably benign Het
Fcgbpl1 C A 7: 27,853,620 (GRCm39) T1528N probably benign Het
Gfod2 C T 8: 106,443,853 (GRCm39) G230D probably benign Het
Git2 A G 5: 114,868,410 (GRCm39) S257P probably damaging Het
Gm5592 A G 7: 40,937,804 (GRCm39) E362G probably benign Het
Gpatch2l A G 12: 86,291,089 (GRCm39) T91A possibly damaging Het
Hjurp A G 1: 88,194,283 (GRCm39) probably benign Het
Hnrnph1 T A 11: 50,276,619 (GRCm39) V439E probably benign Het
Itgad C A 7: 127,790,153 (GRCm39) H651N possibly damaging Het
Map3k20 C T 2: 72,202,336 (GRCm39) T189M probably damaging Het
Mapk11 T C 15: 89,029,653 (GRCm39) probably null Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Nmral1 G A 16: 4,534,333 (GRCm39) T36I probably damaging Het
Or4c1 C T 2: 89,133,562 (GRCm39) V125M possibly damaging Het
Or5b119 A G 19: 13,456,824 (GRCm39) V246A probably damaging Het
Or7e169 A G 9: 19,757,510 (GRCm39) I135T possibly damaging Het
Padi6 A G 4: 140,462,700 (GRCm39) L307P probably damaging Het
Pkd1 G T 17: 24,798,765 (GRCm39) R2691L probably benign Het
Ppp2r2a G A 14: 67,261,214 (GRCm39) R169W probably damaging Het
Prdm1 A T 10: 44,334,488 (GRCm39) probably null Het
Robo1 C T 16: 72,767,157 (GRCm39) P443L possibly damaging Het
Rtn4 CGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGA 11: 29,643,308 (GRCm39) probably benign Het
Shprh A G 10: 11,045,774 (GRCm39) H865R probably damaging Het
Spats1 A T 17: 45,775,480 (GRCm39) S15T probably damaging Het
Srgap2 T C 1: 131,220,327 (GRCm39) T216A probably benign Het
Sry ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG Y: 2,662,944 (GRCm39) probably benign Het
Usp22 T C 11: 61,051,407 (GRCm39) Q312R probably damaging Het
Vmn2r32 T C 7: 7,475,554 (GRCm39) Y443C probably benign Het
Vps13d A C 4: 144,813,360 (GRCm39) D3274E probably damaging Het
Wdr62 A T 7: 29,971,095 (GRCm39) N167K possibly damaging Het
Xpo5 A G 17: 46,553,173 (GRCm39) probably null Het
Zswim7 A T 11: 62,164,611 (GRCm39) I43N possibly damaging Het
Zswim9 T C 7: 13,011,196 (GRCm39) T51A possibly 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
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'- ACACAGGCCATGAGCAGTAC -3'
(R):5'- TCCTTGGTCATGACTCCAGAGC -3'

Sequencing Primer
(F):5'- CATGAGCAGTACCCGATGG -3'
(R):5'- ATGACTCCAGAGCCCCGTTC -3'
Posted On 2015-03-25