Incidental Mutation 'R4614:Tie1'
ID 344926
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 041825-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4614 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 118328388-118347046 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118336248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 673 (Y673H)
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: Y673H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037129
Gene: ENSMUSG00000033191
AA Change: Y673H

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
Meta Mutation Damage Score 0.2232 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (95/97)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T G 13: 77,402,375 (GRCm39) probably null Het
4932414N04Rik C A 2: 68,575,804 (GRCm39) T701K probably benign Het
Abcb11 A T 2: 69,115,025 (GRCm39) H640Q possibly damaging Het
Ago2 C T 15: 73,002,816 (GRCm39) V139M probably damaging Het
Apol11a A T 15: 77,400,772 (GRCm39) K86N probably benign Het
Ass1 T C 2: 31,404,795 (GRCm39) Y359H probably damaging Het
Bpifa3 A T 2: 153,978,200 (GRCm39) N34I probably damaging Het
Brwd1 A T 16: 95,848,559 (GRCm39) L540H probably damaging Het
C3ar1 G A 6: 122,827,680 (GRCm39) S179F probably benign Het
Ccnb1ip1 T C 14: 51,029,652 (GRCm39) T137A probably benign Het
Cd5l A G 3: 87,275,926 (GRCm39) T299A probably benign Het
Cdk12 T A 11: 98,140,603 (GRCm39) probably benign Het
Cep290 T C 10: 100,344,602 (GRCm39) M480T probably benign Het
Cep290 G A 10: 100,395,549 (GRCm39) R2112K possibly damaging Het
Chn2 G A 6: 54,267,388 (GRCm39) M292I probably damaging Het
Cic TCCCCC TCCCCCCC 7: 24,991,095 (GRCm39) probably null Het
Cpeb1 A T 7: 81,086,018 (GRCm39) D41E possibly damaging Het
Csf2rb2 C G 15: 78,175,902 (GRCm39) C184S probably damaging Het
Ctsc G A 7: 87,927,583 (GRCm39) probably null Het
Cyp2c40 G A 19: 39,792,300 (GRCm39) S191L probably damaging Het
Dagla T C 19: 10,225,641 (GRCm39) E841G probably damaging Het
Dld A T 12: 31,383,944 (GRCm39) Y386* probably null Het
Dpp8 G A 9: 64,973,678 (GRCm39) S634N probably benign Het
Duox2 A T 2: 122,120,038 (GRCm39) V824E probably damaging Het
Dync2h1 A C 9: 7,011,290 (GRCm39) S3634R probably benign Het
Eef1d T C 15: 75,775,425 (GRCm39) N78S probably benign Het
Fcrl5 T A 3: 87,355,733 (GRCm39) I482N probably damaging Het
Fezf1 A T 6: 23,247,857 (GRCm39) C73S possibly damaging Het
Fgfr1 A G 8: 26,047,813 (GRCm39) D53G probably benign Het
Fmn1 T C 2: 113,195,494 (GRCm39) L398S unknown Het
Gm17175 T C 14: 51,809,042 (GRCm39) Q108R probably benign Het
Gm28042 G A 2: 119,871,639 (GRCm39) G669D probably damaging Het
Gm6185 A G 1: 161,050,669 (GRCm39) noncoding transcript Het
Gucy2g A T 19: 55,190,579 (GRCm39) C1018* probably null Het
H2-Q10 A T 17: 35,784,917 (GRCm39) probably benign Het
H2-T22 T G 17: 36,351,429 (GRCm39) Q267P probably benign Het
Hibadh A G 6: 52,523,915 (GRCm39) Y328H possibly damaging Het
Hsd3b3 T A 3: 98,649,396 (GRCm39) Y309F probably benign Het
Ighv1-37 C T 12: 114,859,863 (GRCm39) A116T probably benign Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Igkv8-21 A T 6: 70,292,141 (GRCm39) S34T probably benign Het
Insyn1 AGAGGAGGAGGAGGAGG AGAGGAGGAGGAGG 9: 58,406,715 (GRCm39) probably benign Het
Iqch A G 9: 63,389,863 (GRCm39) M733T probably benign Het
Jakmip2 T A 18: 43,695,657 (GRCm39) D539V probably damaging Het
Lgi2 A G 5: 52,695,775 (GRCm39) S395P probably damaging Het
Lrrc40 A T 3: 157,760,271 (GRCm39) N344I probably damaging Het
Ltbp1 G A 17: 75,596,989 (GRCm39) probably benign Het
Metap1d C T 2: 71,355,292 (GRCm39) P332L probably benign Het
Mfap4 C A 11: 61,376,335 (GRCm39) probably benign Het
Mis18bp1 T A 12: 65,200,303 (GRCm39) probably benign Het
Mta2 T C 19: 8,925,492 (GRCm39) probably null Het
Mtmr4 T C 11: 87,501,761 (GRCm39) L548S probably damaging Het
Muc4 A G 16: 32,577,432 (GRCm39) K241E probably benign Het
Mup18 T A 4: 61,590,154 (GRCm39) I125F possibly damaging Het
Nfs1 A G 2: 155,985,970 (GRCm39) S31P probably benign Het
Or10g6 T A 9: 39,934,255 (GRCm39) C189S probably damaging Het
Or10z1 A G 1: 174,078,188 (GRCm39) F102L possibly damaging Het
Or2f1b G T 6: 42,739,352 (GRCm39) R122L probably benign Het
Otogl A T 10: 107,727,985 (GRCm39) C245* probably null Het
Pcdhb16 G A 18: 37,613,398 (GRCm39) G786D probably benign Het
Pdcd5 C T 7: 35,346,472 (GRCm39) probably benign Het
Phkg2 C T 7: 127,176,792 (GRCm39) R61W probably damaging Het
Piezo1 A T 8: 123,213,150 (GRCm39) I1871N probably benign Het
Pkd2l1 C A 19: 44,142,573 (GRCm39) A490S probably damaging Het
Plxnd1 T C 6: 115,949,486 (GRCm39) T767A possibly damaging Het
Polr3c T G 3: 96,623,787 (GRCm39) I322L probably benign Het
Ppp1r26 C A 2: 28,340,860 (GRCm39) H163Q probably benign Het
Prox1 T G 1: 189,894,205 (GRCm39) Y80S probably damaging Het
Pygl T C 12: 70,257,753 (GRCm39) probably null Het
Rab23 T C 1: 33,778,466 (GRCm39) V236A probably benign Het
Setd2 T C 9: 110,398,881 (GRCm39) probably null Het
Slc5a7 A G 17: 54,583,587 (GRCm39) S568P probably benign Het
Smpd3 A G 8: 106,986,371 (GRCm39) L477P probably damaging Het
Spg21 A G 9: 65,387,671 (GRCm39) probably null Het
Spta1 A T 1: 174,020,543 (GRCm39) I551F probably damaging Het
Supt5 A T 7: 28,025,397 (GRCm39) I135N possibly damaging Het
Tacstd2 A G 6: 67,512,170 (GRCm39) F174S probably damaging Het
Tas1r2 A T 4: 139,387,098 (GRCm39) T186S probably damaging Het
Tom1l1 A T 11: 90,561,952 (GRCm39) N190K probably damaging Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Tox4 C T 14: 52,524,924 (GRCm39) T249I probably damaging Het
Trmt1l C T 1: 151,329,799 (GRCm39) Q581* probably null Het
Vmn1r49 A G 6: 90,049,534 (GRCm39) V156A probably benign Het
Vmn2r13 A T 5: 109,323,065 (GRCm39) F75I probably benign Het
Washc2 T A 6: 116,215,135 (GRCm39) S502T possibly damaging Het
Wnk4 A T 11: 101,164,937 (GRCm39) E755D probably benign Het
Zfp207 T A 11: 80,286,016 (GRCm39) probably benign Het
Zfp352 A G 4: 90,113,318 (GRCm39) K486R 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
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
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'- TAGGAATGAACAGTCCCCATCC -3'
(R):5'- ACTCTAGAGTGACTGTGACTGAC -3'

Sequencing Primer
(F):5'- TCTCACCATTGCCCAGAGTGG -3'
(R):5'- AGTGACTGTGACTGACCCCAC -3'
Posted On 2015-09-25