Incidental Mutation 'PIT4687001:Aggf1'
| ID |
556202 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aggf1
|
| Ensembl Gene |
ENSMUSG00000021681 |
| Gene Name |
angiogenic factor with G patch and FHA domains 1 |
| Synonyms |
2310029P06Rik, 2010009L17Rik, VG5Q |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.490)
|
| Stock # |
PIT4687001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
95487191-95511860 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95501383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 333
(L333P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022189]
|
| AlphaFold |
Q7TN31 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022189
AA Change: L333P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022189
Gene: ENSMUSG00000021681
AA Change: L333P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
20 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
201 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
205 |
225 |
4.68e-9 |
PROSPERO |
|
internal_repeat_1
|
221 |
241 |
4.68e-9 |
PROSPERO |
|
low complexity region
|
270 |
280 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
401 |
N/A |
INTRINSIC |
|
FHA
|
430 |
484 |
1.51e-9 |
SMART |
|
low complexity region
|
548 |
561 |
N/A |
INTRINSIC |
|
G_patch
|
614 |
660 |
1.31e-12 |
SMART |
|
| Coding Region Coverage |
- 1x: 93.4%
- 3x: 90.8%
- 10x: 84.7%
- 20x: 71.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygous null embryos die before E8.5. Heterozygotes exhibit defective angiogenesis in yolk sacs and embryos and partial lethality. Surviving adults show hemorrhages, increased vascular permeability, and reduced tumor growth of implanted melanoma cell lines. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh1 |
T |
G |
3: 137,995,596 (GRCm39) |
V333G |
probably damaging |
Het |
| Ankmy1 |
A |
G |
1: 92,812,803 (GRCm39) |
V502A |
probably benign |
Het |
| Atm |
A |
G |
9: 53,398,112 (GRCm39) |
|
probably null |
Het |
| Ccdc180 |
A |
G |
4: 45,949,526 (GRCm39) |
T1594A |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,373,453 (GRCm39) |
D1244E |
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 64,670,385 (GRCm39) |
D638G |
probably damaging |
Het |
| Ctsr |
T |
C |
13: 61,308,346 (GRCm39) |
H266R |
possibly damaging |
Het |
| D630045J12Rik |
C |
T |
6: 38,172,036 (GRCm39) |
E711K |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,383,723 (GRCm39) |
S2982P |
probably damaging |
Het |
| Dsg1a |
G |
T |
18: 20,464,755 (GRCm39) |
A417S |
probably benign |
Het |
| Gdpd1 |
T |
C |
11: 86,950,366 (GRCm39) |
D69G |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,050,801 (GRCm39) |
R310H |
possibly damaging |
Het |
| Ifna2 |
G |
A |
4: 88,601,542 (GRCm39) |
H159Y |
possibly damaging |
Het |
| Kptn |
T |
C |
7: 15,859,751 (GRCm39) |
V325A |
probably damaging |
Het |
| Marchf7 |
A |
G |
2: 60,062,622 (GRCm39) |
E143G |
probably damaging |
Het |
| Mcm4 |
A |
G |
16: 15,454,577 (GRCm39) |
L47P |
probably benign |
Het |
| Mcm8 |
T |
C |
2: 132,659,097 (GRCm39) |
F27S |
possibly damaging |
Het |
| Nod2 |
T |
A |
8: 89,408,274 (GRCm39) |
V967E |
probably damaging |
Het |
| Nrxn2 |
G |
A |
19: 6,531,338 (GRCm39) |
R659Q |
probably benign |
Het |
| Or10al4 |
T |
G |
17: 38,037,082 (GRCm39) |
C56G |
probably benign |
Het |
| Or4x12-ps1 |
A |
G |
2: 89,916,733 (GRCm39) |
V24A |
probably benign |
Het |
| Parp10 |
C |
T |
15: 76,125,122 (GRCm39) |
R545Q |
probably benign |
Het |
| Ppp2r3d |
T |
C |
9: 101,021,579 (GRCm39) |
E332G |
probably benign |
Het |
| Pramel27 |
C |
T |
4: 143,573,103 (GRCm39) |
|
probably benign |
Het |
| Ptpdc1 |
A |
G |
13: 48,739,766 (GRCm39) |
V555A |
probably benign |
Het |
| Qsox2 |
G |
A |
2: 26,112,300 (GRCm39) |
L81F |
possibly damaging |
Het |
| Sbsn |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
7: 30,452,391 (GRCm39) |
|
probably benign |
Het |
| Spata31 |
A |
G |
13: 65,069,151 (GRCm39) |
D433G |
probably benign |
Het |
| Stpg2 |
T |
C |
3: 138,921,026 (GRCm39) |
I77T |
possibly damaging |
Het |
| Sugp2 |
T |
C |
8: 70,710,162 (GRCm39) |
S928P |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,308,390 (GRCm39) |
S722P |
possibly damaging |
Het |
| Szt2 |
A |
T |
4: 118,255,398 (GRCm39) |
S229T |
possibly damaging |
Het |
| Tm9sf3 |
A |
G |
19: 41,206,630 (GRCm39) |
L505P |
probably damaging |
Het |
| Ttc39d |
G |
A |
17: 80,524,354 (GRCm39) |
A338T |
probably damaging |
Het |
| Ubash3b |
A |
G |
9: 40,934,814 (GRCm39) |
F489L |
probably damaging |
Het |
| Xpo7 |
A |
T |
14: 70,904,589 (GRCm39) |
Y1015N |
probably benign |
Het |
| Zbtb14 |
C |
A |
17: 69,695,302 (GRCm39) |
Y333* |
probably null |
Het |
| Zp2 |
T |
C |
7: 119,741,102 (GRCm39) |
T141A |
probably benign |
Het |
|
| Other mutations in Aggf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00835:Aggf1
|
APN |
13 |
95,498,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01083:Aggf1
|
APN |
13 |
95,492,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01296:Aggf1
|
APN |
13 |
95,490,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01811:Aggf1
|
APN |
13 |
95,488,080 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02089:Aggf1
|
APN |
13 |
95,507,437 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02351:Aggf1
|
APN |
13 |
95,489,358 (GRCm39) |
splice site |
probably benign |
|
|
IGL02358:Aggf1
|
APN |
13 |
95,489,358 (GRCm39) |
splice site |
probably benign |
|
|
IGL02534:Aggf1
|
APN |
13 |
95,506,030 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0090:Aggf1
|
UTSW |
13 |
95,501,467 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0189:Aggf1
|
UTSW |
13 |
95,492,988 (GRCm39) |
splice site |
probably benign |
|
|
R0332:Aggf1
|
UTSW |
13 |
95,505,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0334:Aggf1
|
UTSW |
13 |
95,508,105 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0445:Aggf1
|
UTSW |
13 |
95,490,509 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0523:Aggf1
|
UTSW |
13 |
95,492,924 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0575:Aggf1
|
UTSW |
13 |
95,504,905 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0647:Aggf1
|
UTSW |
13 |
95,508,164 (GRCm39) |
splice site |
probably null |
|
|
R1401:Aggf1
|
UTSW |
13 |
95,501,356 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1495:Aggf1
|
UTSW |
13 |
95,492,921 (GRCm39) |
nonsense |
probably null |
|
|
R1542:Aggf1
|
UTSW |
13 |
95,507,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1688:Aggf1
|
UTSW |
13 |
95,501,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2225:Aggf1
|
UTSW |
13 |
95,507,354 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2226:Aggf1
|
UTSW |
13 |
95,507,354 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4405:Aggf1
|
UTSW |
13 |
95,508,102 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4764:Aggf1
|
UTSW |
13 |
95,501,221 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5819:Aggf1
|
UTSW |
13 |
95,488,129 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5878:Aggf1
|
UTSW |
13 |
95,506,065 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5946:Aggf1
|
UTSW |
13 |
95,508,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6056:Aggf1
|
UTSW |
13 |
95,508,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6823:Aggf1
|
UTSW |
13 |
95,501,231 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7051:Aggf1
|
UTSW |
13 |
95,488,125 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7638:Aggf1
|
UTSW |
13 |
95,492,921 (GRCm39) |
nonsense |
probably null |
|
|
R7682:Aggf1
|
UTSW |
13 |
95,504,934 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7903:Aggf1
|
UTSW |
13 |
95,492,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9387:Aggf1
|
UTSW |
13 |
95,507,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9502:Aggf1
|
UTSW |
13 |
95,507,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF014:Aggf1
|
UTSW |
13 |
95,507,276 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
X0010:Aggf1
|
UTSW |
13 |
95,501,485 (GRCm39) |
missense |
probably benign |
|
|
X0064:Aggf1
|
UTSW |
13 |
95,499,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCCCGAGTGAATCACTTACTC -3'
(R):5'- TGAACCAGTGGTGTGAGACG -3'
Sequencing Primer
(F):5'- CATCGTCGGATTCTTCTGAGGTC -3'
(R):5'- TGAGACGCTGATGTCACTGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation