Incidental Mutation 'R0022:Tek'
| ID |
64789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tek
|
| Ensembl Gene |
ENSMUSG00000006386 |
| Gene Name |
TEK receptor tyrosine kinase |
| Synonyms |
Cd202b, Tie2, tie-2, Hyk |
| MMRRC Submission |
038317-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0022 (G1)
|
| Quality Score |
158 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
94627526-94763213 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 94725509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 592
(V592M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099862
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071168]
[ENSMUST00000073939]
[ENSMUST00000102798]
|
| AlphaFold |
Q02858 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071168
AA Change: V592M
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000071162
Gene: ENSMUSG00000006386
AA Change: V592M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Ig_Tie2_1
|
23 |
118 |
1.2e-57 |
PFAM |
|
IG_like
|
128 |
209 |
6.52e0 |
SMART |
|
EGF_Lam
|
227 |
264 |
1.26e-2 |
SMART |
|
EGF
|
267 |
299 |
2.2e1 |
SMART |
|
internal_repeat_1
|
302 |
346 |
4.35e-7 |
PROSPERO |
|
IG_like
|
356 |
442 |
3.29e1 |
SMART |
|
FN3
|
445 |
526 |
2.11e0 |
SMART |
|
FN3
|
541 |
624 |
9.77e-5 |
SMART |
|
FN3
|
638 |
720 |
1.18e-12 |
SMART |
|
transmembrane domain
|
747 |
769 |
N/A |
INTRINSIC |
|
TyrKc
|
822 |
1090 |
1.9e-138 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073939
AA Change: V541M
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000073595
Gene: ENSMUSG00000006386
AA Change: V541M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Ig_Tie2_1
|
23 |
118 |
7.1e-58 |
PFAM |
|
EGF_Lam
|
176 |
213 |
1.26e-2 |
SMART |
|
EGF
|
216 |
248 |
2.2e1 |
SMART |
|
internal_repeat_1
|
251 |
295 |
4.22e-7 |
PROSPERO |
|
FN3
|
394 |
475 |
2.11e0 |
SMART |
|
FN3
|
490 |
573 |
9.77e-5 |
SMART |
|
FN3
|
587 |
669 |
1.18e-12 |
SMART |
|
transmembrane domain
|
696 |
718 |
N/A |
INTRINSIC |
|
TyrKc
|
772 |
1040 |
1.9e-138 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102798
AA Change: V592M
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099862
Gene: ENSMUSG00000006386
AA Change: V592M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Ig_Tie2_1
|
24 |
118 |
5e-44 |
PFAM |
|
IG_like
|
128 |
209 |
6.52e0 |
SMART |
|
EGF_Lam
|
227 |
264 |
1.26e-2 |
SMART |
|
EGF
|
267 |
299 |
2.2e1 |
SMART |
|
internal_repeat_1
|
302 |
346 |
4.36e-7 |
PROSPERO |
|
IG_like
|
356 |
442 |
3.29e1 |
SMART |
|
FN3
|
445 |
526 |
2.11e0 |
SMART |
|
FN3
|
541 |
624 |
9.77e-5 |
SMART |
|
FN3
|
638 |
720 |
1.18e-12 |
SMART |
|
transmembrane domain
|
747 |
769 |
N/A |
INTRINSIC |
|
TyrKc
|
823 |
1091 |
1.9e-138 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.8%
|
| Validation Efficiency |
100% (68/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality during organogenesis, impaired vascular branching in the embryo and yolk sac, abnormal cardiac development, and in some cases hemorrhages. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
T |
3: 116,587,485 (GRCm39) |
|
probably null |
Het |
| Arhgap29 |
G |
A |
3: 121,782,586 (GRCm39) |
V91I |
possibly damaging |
Het |
| Aste1 |
T |
A |
9: 105,273,823 (GRCm39) |
L21* |
probably null |
Het |
| Bpifb5 |
A |
T |
2: 154,072,268 (GRCm39) |
D325V |
probably damaging |
Het |
| Btbd10 |
G |
A |
7: 112,924,988 (GRCm39) |
Q287* |
probably null |
Het |
| Cdc20 |
T |
A |
4: 118,292,686 (GRCm39) |
H354L |
probably damaging |
Het |
| Cdhr3 |
G |
A |
12: 33,132,263 (GRCm39) |
T120I |
probably damaging |
Het |
| Col5a2 |
G |
A |
1: 45,422,843 (GRCm39) |
R1125* |
probably null |
Het |
| Col9a3 |
A |
G |
2: 180,261,549 (GRCm39) |
D613G |
probably damaging |
Het |
| Coro7 |
C |
T |
16: 4,451,168 (GRCm39) |
R507H |
probably benign |
Het |
| Cracdl |
C |
T |
1: 37,667,326 (GRCm39) |
R240Q |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,903,092 (GRCm39) |
V2049E |
probably damaging |
Het |
| Cryga |
T |
C |
1: 65,142,382 (GRCm39) |
I4V |
probably damaging |
Het |
| D930020B18Rik |
A |
G |
10: 121,507,675 (GRCm39) |
T138A |
probably damaging |
Het |
| Dclre1b |
G |
T |
3: 103,710,464 (GRCm39) |
H482Q |
probably benign |
Het |
| Dpy19l2 |
A |
G |
9: 24,607,420 (GRCm39) |
S14P |
probably benign |
Het |
| Elavl3 |
C |
A |
9: 21,948,167 (GRCm39) |
|
probably benign |
Het |
| Ephb6 |
T |
C |
6: 41,591,503 (GRCm39) |
V220A |
probably damaging |
Het |
| Exoc7 |
A |
T |
11: 116,188,408 (GRCm39) |
I297N |
possibly damaging |
Het |
| Gdpd4 |
A |
T |
7: 97,632,082 (GRCm39) |
N332Y |
probably damaging |
Het |
| Ggct |
C |
A |
6: 54,962,887 (GRCm39) |
E175* |
probably null |
Het |
| Gm5316 |
T |
C |
6: 122,877,354 (GRCm39) |
|
noncoding transcript |
Het |
| Hoxa7 |
T |
C |
6: 52,194,363 (GRCm39) |
N8S |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,510,612 (GRCm39) |
T256A |
possibly damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,275,903 (GRCm39) |
F630S |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,783,657 (GRCm39) |
N378S |
probably benign |
Het |
| Lmntd1 |
T |
A |
6: 145,375,716 (GRCm39) |
Y74F |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,888,050 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,671,355 (GRCm39) |
V1194D |
probably damaging |
Het |
| Mc5r |
T |
G |
18: 68,471,853 (GRCm39) |
S71A |
probably benign |
Het |
| Mcm7 |
T |
C |
5: 138,162,981 (GRCm39) |
*390W |
probably null |
Het |
| Myo18a |
T |
C |
11: 77,734,059 (GRCm39) |
|
probably null |
Het |
| Naa25 |
C |
A |
5: 121,556,039 (GRCm39) |
L276M |
probably damaging |
Het |
| Nlrp1a |
T |
G |
11: 71,014,207 (GRCm39) |
T348P |
probably damaging |
Het |
| Nlrp1b |
T |
G |
11: 71,052,755 (GRCm39) |
K888T |
possibly damaging |
Het |
| Or4f53 |
A |
G |
2: 111,087,994 (GRCm39) |
Y178C |
probably benign |
Het |
| Pabpc6 |
A |
T |
17: 9,888,145 (GRCm39) |
N135K |
probably benign |
Het |
| Pdzd2 |
G |
A |
15: 12,371,691 (GRCm39) |
A2568V |
possibly damaging |
Het |
| Pik3r2 |
A |
G |
8: 71,223,545 (GRCm39) |
F346S |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,813,793 (GRCm39) |
W4086R |
probably damaging |
Het |
| Plekhb2 |
G |
A |
1: 34,905,320 (GRCm39) |
|
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,047,479 (GRCm39) |
|
probably null |
Het |
| Pmfbp1 |
C |
T |
8: 110,252,039 (GRCm39) |
R395W |
probably damaging |
Het |
| Pnldc1 |
A |
G |
17: 13,109,006 (GRCm39) |
Y497H |
probably damaging |
Het |
| Ppp1ca |
T |
G |
19: 4,244,580 (GRCm39) |
V213G |
possibly damaging |
Het |
| Rapgef2 |
G |
A |
3: 78,995,207 (GRCm39) |
R814C |
probably damaging |
Het |
| Relch |
T |
A |
1: 105,619,627 (GRCm39) |
|
probably benign |
Het |
| Rnasel |
A |
T |
1: 153,636,521 (GRCm39) |
I634F |
probably damaging |
Het |
| Rnf157 |
A |
T |
11: 116,240,276 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,471,011 (GRCm39) |
S4567P |
probably damaging |
Het |
| Smcr8 |
T |
A |
11: 60,671,185 (GRCm39) |
W778R |
probably damaging |
Het |
| Stat1 |
T |
A |
1: 52,179,789 (GRCm39) |
L333Q |
probably damaging |
Het |
| Strc |
A |
G |
2: 121,198,874 (GRCm39) |
L1391P |
probably damaging |
Het |
| Top1 |
A |
C |
2: 160,544,719 (GRCm39) |
K278N |
possibly damaging |
Het |
| Utrn |
C |
T |
10: 12,585,700 (GRCm39) |
|
probably benign |
Het |
| Wdr7 |
T |
C |
18: 63,910,705 (GRCm39) |
I699T |
probably damaging |
Het |
| Zfp30 |
A |
G |
7: 29,491,860 (GRCm39) |
E119G |
possibly damaging |
Het |
|
| Other mutations in Tek |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00654:Tek
|
APN |
4 |
94,715,538 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00805:Tek
|
APN |
4 |
94,686,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00806:Tek
|
APN |
4 |
94,686,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00807:Tek
|
APN |
4 |
94,686,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00870:Tek
|
APN |
4 |
94,761,318 (GRCm39) |
nonsense |
probably null |
|
|
IGL01348:Tek
|
APN |
4 |
94,747,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01398:Tek
|
APN |
4 |
94,738,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01683:Tek
|
APN |
4 |
94,747,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01827:Tek
|
APN |
4 |
94,627,882 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02063:Tek
|
APN |
4 |
94,627,882 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02218:Tek
|
APN |
4 |
94,743,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02502:Tek
|
APN |
4 |
94,741,818 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02852:Tek
|
APN |
4 |
94,743,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02995:Tek
|
APN |
4 |
94,627,877 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03182:Tek
|
APN |
4 |
94,740,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03247:Tek
|
APN |
4 |
94,753,680 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03014:Tek
|
UTSW |
4 |
94,715,500 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0373:Tek
|
UTSW |
4 |
94,692,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0479:Tek
|
UTSW |
4 |
94,692,549 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1178:Tek
|
UTSW |
4 |
94,692,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1289:Tek
|
UTSW |
4 |
94,693,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1331:Tek
|
UTSW |
4 |
94,627,943 (GRCm39) |
splice site |
probably benign |
|
|
R1502:Tek
|
UTSW |
4 |
94,669,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1606:Tek
|
UTSW |
4 |
94,738,004 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2073:Tek
|
UTSW |
4 |
94,715,966 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2075:Tek
|
UTSW |
4 |
94,715,966 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2230:Tek
|
UTSW |
4 |
94,699,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2851:Tek
|
UTSW |
4 |
94,708,461 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2852:Tek
|
UTSW |
4 |
94,708,461 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3775:Tek
|
UTSW |
4 |
94,692,549 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3845:Tek
|
UTSW |
4 |
94,693,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4114:Tek
|
UTSW |
4 |
94,737,920 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4115:Tek
|
UTSW |
4 |
94,737,920 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4273:Tek
|
UTSW |
4 |
94,718,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4425:Tek
|
UTSW |
4 |
94,751,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4488:Tek
|
UTSW |
4 |
94,737,993 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4579:Tek
|
UTSW |
4 |
94,751,903 (GRCm39) |
nonsense |
probably null |
|
|
R4623:Tek
|
UTSW |
4 |
94,751,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4651:Tek
|
UTSW |
4 |
94,669,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:Tek
|
UTSW |
4 |
94,669,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4723:Tek
|
UTSW |
4 |
94,687,397 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5059:Tek
|
UTSW |
4 |
94,692,551 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5652:Tek
|
UTSW |
4 |
94,743,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5793:Tek
|
UTSW |
4 |
94,708,333 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5855:Tek
|
UTSW |
4 |
94,741,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5912:Tek
|
UTSW |
4 |
94,686,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6537:Tek
|
UTSW |
4 |
94,725,561 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6727:Tek
|
UTSW |
4 |
94,741,732 (GRCm39) |
nonsense |
probably null |
|
|
R6835:Tek
|
UTSW |
4 |
94,741,671 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6883:Tek
|
UTSW |
4 |
94,725,426 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6887:Tek
|
UTSW |
4 |
94,693,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7027:Tek
|
UTSW |
4 |
94,753,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7108:Tek
|
UTSW |
4 |
94,741,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7121:Tek
|
UTSW |
4 |
94,699,647 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7220:Tek
|
UTSW |
4 |
94,692,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7346:Tek
|
UTSW |
4 |
94,715,533 (GRCm39) |
missense |
probably benign |
|
|
R7417:Tek
|
UTSW |
4 |
94,699,582 (GRCm39) |
missense |
probably benign |
|
|
R7465:Tek
|
UTSW |
4 |
94,716,063 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7818:Tek
|
UTSW |
4 |
94,715,953 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7917:Tek
|
UTSW |
4 |
94,708,372 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7942:Tek
|
UTSW |
4 |
94,740,111 (GRCm39) |
splice site |
probably null |
|
|
R7956:Tek
|
UTSW |
4 |
94,687,580 (GRCm39) |
splice site |
probably null |
|
|
R8098:Tek
|
UTSW |
4 |
94,715,907 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8442:Tek
|
UTSW |
4 |
94,715,922 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8523:Tek
|
UTSW |
4 |
94,687,403 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8676:Tek
|
UTSW |
4 |
94,738,074 (GRCm39) |
missense |
probably benign |
|
|
R8787:Tek
|
UTSW |
4 |
94,738,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9020:Tek
|
UTSW |
4 |
94,708,339 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9172:Tek
|
UTSW |
4 |
94,692,583 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9429:Tek
|
UTSW |
4 |
94,715,515 (GRCm39) |
missense |
probably benign |
|
|
R9564:Tek
|
UTSW |
4 |
94,762,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9602:Tek
|
UTSW |
4 |
94,715,968 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9643:Tek
|
UTSW |
4 |
94,692,523 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9721:Tek
|
UTSW |
4 |
94,692,539 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9722:Tek
|
UTSW |
4 |
94,692,539 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9723:Tek
|
UTSW |
4 |
94,692,539 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGAGCTGTCATTACTTCTGTCCAAC -3'
(R):5'- CTCATCCATCAGTCAGCACCCATTG -3'
Sequencing Primer
(F):5'- TGACAATAACCATCTTCTGGTCAC -3'
(R):5'- GGCCCTTCCAGTGTAATACTATAGG -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation