Incidental Mutation 'R4440:Angpt4'
| ID |
329707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Angpt4
|
| Ensembl Gene |
ENSMUSG00000027460 |
| Gene Name |
angiopoietin 4 |
| Synonyms |
|
| MMRRC Submission |
041705-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R4440 (G1)
|
| Quality Score |
220 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
151753130-151787257 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 151786566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 508
(G508C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028955]
|
| AlphaFold |
Q9WVH6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028955
AA Change: G508C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028955
Gene: ENSMUSG00000027460
AA Change: G508C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
95 |
N/A |
INTRINSIC |
|
coiled coil region
|
181 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
267 |
N/A |
INTRINSIC |
|
FBG
|
292 |
507 |
2.23e-98 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142642
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
94% (46/49) |
| MGI Phenotype |
FUNCTION: This gene is a member of the angiopoietin family of secreted growth factors comprising Angiopoietins-1, -2, and -3, all of which bind the TEK Receptor Tyrosine Kinase. Angiopoietin/TEK Receptor Tyrosine Kinase signaling is involved in survival and migration of endothelial cells and regulates vascular remodeling and maintenance of vascular integrity. Angiopoietin/TEK Receptor Tyrosine Kinase signaling is also required for lymphangiogenesis. Family members bind TEK Receptor Tyrosine Kinase as multimeric clusters but their oligomerization properties differ from one another and this is thought to provide a mechanistic basis for their distinct physiologic roles. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp |
G |
T |
2: 168,026,721 (GRCm39) |
H191Q |
possibly damaging |
Het |
| Afdn |
T |
C |
17: 14,071,152 (GRCm39) |
W782R |
probably damaging |
Het |
| Alpl |
A |
T |
4: 137,475,124 (GRCm39) |
W270R |
probably damaging |
Het |
| Armc8 |
T |
A |
9: 99,366,087 (GRCm39) |
H609L |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,305,859 (GRCm39) |
|
probably null |
Het |
| Bicdl2 |
C |
T |
17: 23,886,590 (GRCm39) |
A393V |
probably benign |
Het |
| C6 |
A |
T |
15: 4,764,733 (GRCm39) |
K143M |
possibly damaging |
Het |
| Cfc1 |
T |
A |
1: 34,583,183 (GRCm39) |
|
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 64,096,714 (GRCm39) |
I417M |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,345,935 (GRCm39) |
W2307* |
probably null |
Het |
| Dpysl5 |
T |
C |
5: 30,949,612 (GRCm39) |
F461L |
probably damaging |
Het |
| Fip1l1 |
T |
C |
5: 74,697,446 (GRCm39) |
|
probably benign |
Het |
| Fpgs |
C |
T |
2: 32,577,513 (GRCm39) |
C219Y |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,821,550 (GRCm39) |
D5761G |
possibly damaging |
Het |
| Hdac4 |
C |
A |
1: 91,873,717 (GRCm39) |
G957C |
probably damaging |
Het |
| Klhl8 |
A |
G |
5: 104,015,433 (GRCm39) |
I421T |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,932,216 (GRCm39) |
C1337R |
probably damaging |
Het |
| Lpin3 |
A |
G |
2: 160,740,565 (GRCm39) |
N370S |
probably benign |
Het |
| Man2a2 |
C |
A |
7: 80,001,463 (GRCm39) |
R1148L |
probably benign |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Nav2 |
C |
T |
7: 49,201,785 (GRCm39) |
T1453I |
possibly damaging |
Het |
| Nav2 |
A |
G |
7: 49,225,011 (GRCm39) |
|
probably benign |
Het |
| Ndufaf5 |
T |
A |
2: 140,012,645 (GRCm39) |
V5D |
probably benign |
Het |
| Nipbl |
G |
C |
15: 8,396,142 (GRCm39) |
Q144E |
probably damaging |
Het |
| Ntrk2 |
G |
C |
13: 59,208,126 (GRCm39) |
Q657H |
probably damaging |
Het |
| Or4a75 |
G |
T |
2: 89,448,512 (GRCm39) |
T8K |
probably damaging |
Het |
| Or4c107 |
G |
A |
2: 88,789,685 (GRCm39) |
E292K |
probably benign |
Het |
| Polr1a |
A |
G |
6: 71,927,832 (GRCm39) |
D861G |
probably damaging |
Het |
| Pramel15 |
A |
T |
4: 144,099,437 (GRCm39) |
F443I |
probably benign |
Het |
| Pwwp2b |
T |
C |
7: 138,835,555 (GRCm39) |
I332T |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,131,797 (GRCm39) |
D620G |
possibly damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,238,962 (GRCm39) |
V219A |
probably benign |
Het |
| Slc7a2 |
T |
C |
8: 41,355,686 (GRCm39) |
I245T |
probably benign |
Het |
| Smok3c |
T |
A |
5: 138,062,866 (GRCm39) |
Y118N |
possibly damaging |
Het |
| Taok2 |
C |
T |
7: 126,465,693 (GRCm39) |
R367Q |
possibly damaging |
Het |
| Tbl1xr1 |
A |
G |
3: 22,254,752 (GRCm39) |
|
probably null |
Het |
| Tbr1 |
A |
T |
2: 61,635,182 (GRCm39) |
D44V |
possibly damaging |
Het |
| Tespa1 |
C |
T |
10: 130,197,826 (GRCm39) |
R283C |
probably damaging |
Het |
| Tle2 |
A |
G |
10: 81,417,516 (GRCm39) |
E227G |
possibly damaging |
Het |
| Vmn1r231 |
T |
C |
17: 21,110,718 (GRCm39) |
R66G |
possibly damaging |
Het |
| Xab2 |
T |
C |
8: 3,666,353 (GRCm39) |
E185G |
probably benign |
Het |
|
| Other mutations in Angpt4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02900:Angpt4
|
APN |
2 |
151,753,391 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03107:Angpt4
|
APN |
2 |
151,785,342 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03343:Angpt4
|
APN |
2 |
151,778,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0034:Angpt4
|
UTSW |
2 |
151,771,311 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0709:Angpt4
|
UTSW |
2 |
151,776,434 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0764:Angpt4
|
UTSW |
2 |
151,753,204 (GRCm39) |
start gained |
probably benign |
|
|
R0853:Angpt4
|
UTSW |
2 |
151,780,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1796:Angpt4
|
UTSW |
2 |
151,780,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Angpt4
|
UTSW |
2 |
151,778,703 (GRCm39) |
splice site |
probably benign |
|
|
R2184:Angpt4
|
UTSW |
2 |
151,780,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2901:Angpt4
|
UTSW |
2 |
151,753,259 (GRCm39) |
missense |
unknown |
|
|
R3014:Angpt4
|
UTSW |
2 |
151,771,517 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4192:Angpt4
|
UTSW |
2 |
151,785,238 (GRCm39) |
missense |
probably benign |
|
|
R5059:Angpt4
|
UTSW |
2 |
151,776,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5326:Angpt4
|
UTSW |
2 |
151,767,464 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6345:Angpt4
|
UTSW |
2 |
151,771,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7232:Angpt4
|
UTSW |
2 |
151,771,460 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7313:Angpt4
|
UTSW |
2 |
151,767,326 (GRCm39) |
missense |
probably benign |
|
|
R7456:Angpt4
|
UTSW |
2 |
151,780,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7598:Angpt4
|
UTSW |
2 |
151,767,445 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7823:Angpt4
|
UTSW |
2 |
151,753,286 (GRCm39) |
missense |
unknown |
|
|
R8261:Angpt4
|
UTSW |
2 |
151,769,084 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8682:Angpt4
|
UTSW |
2 |
151,769,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8730:Angpt4
|
UTSW |
2 |
151,771,467 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8861:Angpt4
|
UTSW |
2 |
151,767,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9359:Angpt4
|
UTSW |
2 |
151,780,892 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9403:Angpt4
|
UTSW |
2 |
151,780,892 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATCTCGGCCACCAATCTC -3'
(R):5'- ATTTCACACTAGAGGGGCACAG -3'
Sequencing Primer
(F):5'- TCGGCCACCAATCTCACCTC -3'
(R):5'- CACAGGGAGGCAGGTGAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation