Incidental Mutation 'R8012:Tie1'
| ID |
616940 |
| 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 |
046052-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8012 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
118328388-118347046 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118343678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 88
(L88P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047421]
[ENSMUST00000184261]
|
| AlphaFold |
Q06806 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047421
AA Change: L88P
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000037129
Gene: ENSMUSG00000033191
AA Change: L88P
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000184261
AA Change: L88P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000139279
Gene: ENSMUSG00000033191
AA Change: L88P
| Domain | Start | End | E-Value | Type |
|---|
|
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (44/44) |
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
T |
A |
4: 144,429,972 (GRCm39) |
D339V |
possibly damaging |
Het |
| Adam19 |
A |
G |
11: 45,955,873 (GRCm39) |
E73G |
possibly damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Alas1 |
A |
T |
9: 106,123,962 (GRCm39) |
N65K |
probably benign |
Het |
| Amigo1 |
T |
A |
3: 108,095,958 (GRCm39) |
S486T |
probably damaging |
Het |
| Arid1a |
A |
G |
4: 133,420,174 (GRCm39) |
L591S |
unknown |
Het |
| Asic1 |
T |
C |
15: 99,594,532 (GRCm39) |
V326A |
possibly damaging |
Het |
| Aspm |
A |
G |
1: 139,385,202 (GRCm39) |
N282S |
probably benign |
Het |
| Atad5 |
A |
G |
11: 79,985,066 (GRCm39) |
D51G |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,695,534 (GRCm39) |
S1320P |
possibly damaging |
Het |
| Cabp5 |
A |
T |
7: 13,141,706 (GRCm39) |
|
probably null |
Het |
| Cdca2 |
A |
G |
14: 67,914,821 (GRCm39) |
C813R |
probably benign |
Het |
| Chpf2 |
A |
T |
5: 24,795,343 (GRCm39) |
R289W |
probably damaging |
Het |
| Csf1r |
A |
T |
18: 61,250,136 (GRCm39) |
N367I |
possibly damaging |
Het |
| Cyp2c66 |
T |
C |
19: 39,172,369 (GRCm39) |
F428S |
probably damaging |
Het |
| Dgkb |
A |
T |
12: 38,189,485 (GRCm39) |
N296I |
probably benign |
Het |
| Dhcr24 |
T |
C |
4: 106,443,853 (GRCm39) |
F481S |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,274,958 (GRCm39) |
Y166C |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,282,525 (GRCm39) |
Q2886L |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,757,807 (GRCm39) |
V99E |
probably benign |
Het |
| F830045P16Rik |
T |
C |
2: 129,316,352 (GRCm39) |
D119G |
possibly damaging |
Het |
| Fasn |
A |
T |
11: 120,702,428 (GRCm39) |
L1773Q |
probably damaging |
Het |
| Filip1 |
A |
T |
9: 79,725,241 (GRCm39) |
V1126E |
probably damaging |
Het |
| Fnta |
T |
C |
8: 26,489,535 (GRCm39) |
I359V |
probably benign |
Het |
| Hoxc10 |
T |
C |
15: 102,875,902 (GRCm39) |
S204P |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,743,815 (GRCm39) |
C1304R |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,097,358 (GRCm39) |
E1562G |
probably benign |
Het |
| Lrguk |
A |
G |
6: 34,033,038 (GRCm39) |
N235D |
probably benign |
Het |
| Ly6g6f |
T |
C |
17: 35,300,060 (GRCm39) |
R263G |
possibly damaging |
Het |
| Mcrs1 |
C |
A |
15: 99,147,766 (GRCm39) |
S47I |
probably damaging |
Het |
| Mx1 |
T |
A |
16: 97,258,572 (GRCm39) |
I42F |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Nup188 |
T |
A |
2: 30,227,277 (GRCm39) |
C1235S |
possibly damaging |
Het |
| Obsl1 |
T |
A |
1: 75,469,317 (GRCm39) |
H1208L |
probably benign |
Het |
| Pcmt1 |
T |
C |
10: 7,516,527 (GRCm39) |
D175G |
probably benign |
Het |
| Pcolce |
T |
C |
5: 137,603,457 (GRCm39) |
K459E |
probably benign |
Het |
| Pudp |
T |
G |
18: 50,701,310 (GRCm39) |
H141P |
possibly damaging |
Het |
| Rock2 |
T |
C |
12: 16,992,743 (GRCm39) |
Y171H |
probably damaging |
Het |
| Rwdd1 |
A |
C |
10: 33,885,198 (GRCm39) |
|
probably benign |
Het |
| Sbno1 |
A |
G |
5: 124,522,565 (GRCm39) |
V1085A |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,847,045 (GRCm39) |
D1351G |
probably damaging |
Het |
| Tph1 |
A |
T |
7: 46,306,303 (GRCm39) |
D219E |
probably damaging |
Het |
| Wdr86 |
A |
G |
5: 24,935,177 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tie1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- TGTGTGACCTTGTCTGGAAAC -3'
(R):5'- AACATTGCTGGCCAACCTG -3'
Sequencing Primer
(F):5'- CTGTGGATGAGAGGTAAGTTCAGC -3'
(R):5'- TGGCCAACCTGCGCATC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation