Incidental Mutation 'R1237:Angptl1'
| ID |
152447 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Angptl1
|
| Ensembl Gene |
ENSMUSG00000033544 |
| Gene Name |
angiopoietin-like 1 |
| Synonyms |
2810039D03Rik, ANG3, ARP1, ANGPT3, ANG-3, ANGY, ANG3 |
| MMRRC Submission |
039304-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R1237 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
156666495-156688648 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 156686154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 413
(N413K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027885]
[ENSMUST00000027886]
[ENSMUST00000063199]
[ENSMUST00000171292]
[ENSMUST00000172057]
[ENSMUST00000185198]
[ENSMUST00000188656]
[ENSMUST00000192343]
[ENSMUST00000190648]
[ENSMUST00000189316]
[ENSMUST00000191605]
|
| AlphaFold |
Q640P2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027885
AA Change: N413K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027885
Gene: ENSMUSG00000033544
AA Change: N413K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
FBG
|
274 |
489 |
1.3e-99 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027886
|
| SMART Domains |
Protein: ENSMUSP00000027886
Gene: ENSMUSG00000026594
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
|
RasGEF
|
45 |
288 |
2.31e-91 |
SMART |
|
low complexity region
|
394 |
417 |
N/A |
INTRINSIC |
|
PH
|
439 |
552 |
1.01e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063199
|
| SMART Domains |
Protein: ENSMUSP00000063872
Gene: ENSMUSG00000026594
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
|
RasGEF
|
45 |
288 |
2.31e-91 |
SMART |
|
low complexity region
|
394 |
417 |
N/A |
INTRINSIC |
|
PH
|
465 |
578 |
1.01e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171292
|
| SMART Domains |
Protein: ENSMUSP00000130581
Gene: ENSMUSG00000026594
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
|
RasGEF
|
45 |
288 |
2.31e-91 |
SMART |
|
low complexity region
|
394 |
417 |
N/A |
INTRINSIC |
|
PH
|
465 |
578 |
1.01e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172057
|
| SMART Domains |
Protein: ENSMUSP00000132533
Gene: ENSMUSG00000026594
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEF
|
5 |
253 |
1.35e-83 |
SMART |
|
low complexity region
|
359 |
382 |
N/A |
INTRINSIC |
|
PH
|
430 |
543 |
1.01e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185198
|
| SMART Domains |
Protein: ENSMUSP00000139618
Gene: ENSMUSG00000026594
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
|
RasGEF
|
45 |
288 |
2.31e-91 |
SMART |
|
low complexity region
|
394 |
417 |
N/A |
INTRINSIC |
|
Blast:PH
|
465 |
562 |
3e-55 |
BLAST |
|
PDB:2DTC|B
|
466 |
551 |
9e-34 |
PDB |
|
SCOP:d1btn__
|
467 |
546 |
2e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188656
|
| SMART Domains |
Protein: ENSMUSP00000140342
Gene: ENSMUSG00000026594
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
|
RasGEF
|
45 |
288 |
1.4e-93 |
SMART |
|
low complexity region
|
394 |
417 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194998
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192343
|
| SMART Domains |
Protein: ENSMUSP00000142004
Gene: ENSMUSG00000026594
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1bkds_
|
1 |
70 |
3e-5 |
SMART |
|
PDB:3QXL|B
|
38 |
71 |
3e-14 |
PDB |
|
Blast:RasGEF
|
45 |
74 |
1e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190648
|
| SMART Domains |
Protein: ENSMUSP00000140055
Gene: ENSMUSG00000026594
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
|
RasGEF
|
45 |
288 |
1.4e-93 |
SMART |
|
low complexity region
|
394 |
417 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189316
|
| SMART Domains |
Protein: ENSMUSP00000140230
Gene: ENSMUSG00000026594
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
|
RasGEF
|
45 |
288 |
2.31e-91 |
SMART |
|
low complexity region
|
394 |
417 |
N/A |
INTRINSIC |
|
PDB:2DTC|B
|
466 |
520 |
6e-16 |
PDB |
|
SCOP:d1btn__
|
467 |
519 |
1e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191605
|
| SMART Domains |
Protein: ENSMUSP00000139645
Gene: ENSMUSG00000026594
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
|
RasGEF
|
45 |
288 |
2.31e-91 |
SMART |
|
low complexity region
|
394 |
417 |
N/A |
INTRINSIC |
|
PH
|
465 |
578 |
1.01e-9 |
SMART |
|
| Meta Mutation Damage Score |
0.3871 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.8%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. The protein encoded by this gene is another member of the angiopoietin family that is widely expressed in adult tissues with mRNA levels highest in highly vascularized tissues. This protein was found to be a secretory protein that does not act as an endothelial cell mitogen in vitro. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit no detectable phenotypic defects. [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 |
|---|
| Abcg3 |
T |
C |
5: 105,096,223 (GRCm39) |
T500A |
probably damaging |
Het |
| Amz1 |
A |
T |
5: 140,727,039 (GRCm39) |
M1L |
probably damaging |
Het |
| Ankrd13b |
T |
C |
11: 77,365,400 (GRCm39) |
T70A |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Ccdc174 |
C |
T |
6: 91,867,768 (GRCm39) |
|
probably benign |
Het |
| Ccnc |
T |
A |
4: 21,730,457 (GRCm39) |
F31L |
probably benign |
Het |
| Celsr1 |
A |
C |
15: 85,788,175 (GRCm39) |
S2692R |
probably benign |
Het |
| Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
| Ddhd1 |
A |
T |
14: 45,839,107 (GRCm39) |
D65E |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,632,393 (GRCm39) |
N4504S |
probably benign |
Het |
| Enthd1 |
A |
G |
15: 80,418,799 (GRCm39) |
S167P |
probably damaging |
Het |
| Fat1 |
A |
T |
8: 45,497,316 (GRCm39) |
Y4267F |
probably damaging |
Het |
| Hectd4 |
C |
T |
5: 121,459,570 (GRCm39) |
A813V |
possibly damaging |
Het |
| Ibtk |
T |
C |
9: 85,602,801 (GRCm39) |
S735G |
probably benign |
Het |
| Itga4 |
A |
G |
2: 79,109,490 (GRCm39) |
I230V |
probably null |
Het |
| Kcnh8 |
A |
T |
17: 53,200,988 (GRCm39) |
Q474L |
probably damaging |
Het |
| Kcnh8 |
G |
T |
17: 53,200,989 (GRCm39) |
Q474H |
probably damaging |
Het |
| Mib1 |
C |
T |
18: 10,768,149 (GRCm39) |
T466I |
probably damaging |
Het |
| Or12d12 |
T |
A |
17: 37,611,156 (GRCm39) |
R52S |
probably benign |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Or2l5 |
A |
C |
16: 19,334,375 (GRCm39) |
Y4D |
probably benign |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Prdx6b |
A |
G |
2: 80,123,520 (GRCm39) |
I110V |
probably benign |
Het |
| Prf1 |
A |
C |
10: 61,139,428 (GRCm39) |
D462A |
probably benign |
Het |
| Rps6ka5 |
T |
C |
12: 100,541,964 (GRCm39) |
D391G |
possibly damaging |
Het |
| Scn7a |
A |
T |
2: 66,510,639 (GRCm39) |
N1254K |
probably damaging |
Het |
| Skor2 |
A |
T |
18: 76,963,827 (GRCm39) |
K924* |
probably null |
Het |
| Slc22a21 |
A |
G |
11: 53,870,598 (GRCm39) |
I29T |
probably benign |
Het |
| Tas2r140 |
T |
C |
6: 133,032,171 (GRCm39) |
T196A |
probably benign |
Het |
| Thrap3 |
A |
G |
4: 126,073,862 (GRCm39) |
S295P |
probably benign |
Het |
| Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
| Ubtd2 |
C |
T |
11: 32,466,125 (GRCm39) |
R115W |
probably damaging |
Het |
| Unc93b1 |
A |
G |
19: 3,985,228 (GRCm39) |
E12G |
possibly damaging |
Het |
| Vgll3 |
T |
A |
16: 65,636,459 (GRCm39) |
Y203* |
probably null |
Het |
| Vmn1r212 |
G |
A |
13: 23,067,638 (GRCm39) |
Q232* |
probably null |
Het |
| Vmn2r107 |
T |
A |
17: 20,576,947 (GRCm39) |
L315* |
probably null |
Het |
| Vmn2r84 |
T |
A |
10: 130,223,725 (GRCm39) |
|
probably null |
Het |
| Washc5 |
A |
G |
15: 59,210,757 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Angptl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02835:Angptl1
|
UTSW |
1 |
156,686,090 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0285:Angptl1
|
UTSW |
1 |
156,672,785 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1573:Angptl1
|
UTSW |
1 |
156,684,740 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1722:Angptl1
|
UTSW |
1 |
156,684,655 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4621:Angptl1
|
UTSW |
1 |
156,672,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4795:Angptl1
|
UTSW |
1 |
156,688,153 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4849:Angptl1
|
UTSW |
1 |
156,684,735 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4915:Angptl1
|
UTSW |
1 |
156,672,388 (GRCm39) |
missense |
probably benign |
|
|
R5919:Angptl1
|
UTSW |
1 |
156,686,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6656:Angptl1
|
UTSW |
1 |
156,684,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6833:Angptl1
|
UTSW |
1 |
156,672,263 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6834:Angptl1
|
UTSW |
1 |
156,672,263 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7453:Angptl1
|
UTSW |
1 |
156,672,421 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7657:Angptl1
|
UTSW |
1 |
156,684,790 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7692:Angptl1
|
UTSW |
1 |
156,672,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8765:Angptl1
|
UTSW |
1 |
156,684,727 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9041:Angptl1
|
UTSW |
1 |
156,685,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF002:Angptl1
|
UTSW |
1 |
156,684,794 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
X0066:Angptl1
|
UTSW |
1 |
156,672,505 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGTACTGGCTTGGACTGGACAAT -3'
(R):5'- TAGTTCCCCACTGAGTCTCCAGCA -3'
Sequencing Primer
(F):5'- GGCTTGGACTGGACAATATCTAC -3'
(R):5'- caccaccagaaggcatcag -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation