Incidental Mutation 'R6833:Angptl1'
ID |
534424 |
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 |
044942-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
R6833 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
156666495-156688648 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 156672263 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 30
(I30L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107349
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027885]
[ENSMUST00000027886]
[ENSMUST00000063199]
[ENSMUST00000111720]
[ENSMUST00000171292]
[ENSMUST00000172057]
[ENSMUST00000185198]
[ENSMUST00000188656]
[ENSMUST00000189316]
[ENSMUST00000190648]
[ENSMUST00000191605]
[ENSMUST00000192343]
|
AlphaFold |
Q640P2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027885
AA Change: I30L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000027885 Gene: ENSMUSG00000033544 AA Change: I30L
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: ENSMUST00000111720
AA Change: I30L
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000107349 Gene: ENSMUSG00000033544 AA Change: I30L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
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 |
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: 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: 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 |
|
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 |
|
Meta Mutation Damage Score |
0.0601 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
96% (54/56) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
T |
A |
1: 11,658,733 (GRCm39) |
W215R |
probably damaging |
Het |
Aco1 |
A |
G |
4: 40,164,747 (GRCm39) |
K79R |
probably benign |
Het |
Adam28 |
C |
T |
14: 68,855,576 (GRCm39) |
A630T |
probably benign |
Het |
Alpk2 |
T |
C |
18: 65,439,480 (GRCm39) |
K1105E |
probably benign |
Het |
Astn1 |
A |
T |
1: 158,491,692 (GRCm39) |
Q47L |
probably benign |
Het |
Atf6b |
T |
C |
17: 34,868,131 (GRCm39) |
S135P |
probably damaging |
Het |
Ccdc122 |
G |
T |
14: 77,326,371 (GRCm39) |
|
probably benign |
Het |
Cers3 |
T |
C |
7: 66,429,419 (GRCm39) |
|
probably null |
Het |
Dcaf10 |
T |
C |
4: 45,373,043 (GRCm39) |
C95R |
probably damaging |
Het |
Dcxr |
A |
G |
11: 120,616,917 (GRCm39) |
Y149H |
probably damaging |
Het |
Dmxl1 |
A |
T |
18: 50,088,890 (GRCm39) |
I2790F |
probably damaging |
Het |
Dnhd1 |
T |
A |
7: 105,352,580 (GRCm39) |
C2578S |
probably benign |
Het |
Dnttip2 |
T |
C |
3: 122,070,452 (GRCm39) |
S556P |
probably damaging |
Het |
Efr3a |
T |
G |
15: 65,714,535 (GRCm39) |
V301G |
probably damaging |
Het |
Eml5 |
A |
T |
12: 98,853,283 (GRCm39) |
H105Q |
probably damaging |
Het |
Enpp3 |
T |
A |
10: 24,685,768 (GRCm39) |
H44L |
probably damaging |
Het |
Fam120a |
A |
G |
13: 49,087,517 (GRCm39) |
V281A |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
Ferd3l |
G |
A |
12: 33,978,537 (GRCm39) |
V17I |
probably damaging |
Het |
Glb1l |
A |
G |
1: 75,178,397 (GRCm39) |
V347A |
possibly damaging |
Het |
Gm4846 |
A |
T |
1: 166,322,147 (GRCm39) |
I140N |
possibly damaging |
Het |
Gm9195 |
T |
C |
14: 72,671,856 (GRCm39) |
T2586A |
possibly damaging |
Het |
Hsd17b8 |
T |
C |
17: 34,246,191 (GRCm39) |
S161G |
probably damaging |
Het |
Hsp90ab1 |
T |
C |
17: 45,881,393 (GRCm39) |
I250V |
probably benign |
Het |
Il11ra1 |
A |
G |
4: 41,765,454 (GRCm39) |
H183R |
probably benign |
Het |
Lama3 |
G |
A |
18: 12,624,605 (GRCm39) |
C1450Y |
probably damaging |
Het |
Lgals7 |
G |
A |
7: 28,565,087 (GRCm39) |
R75Q |
probably damaging |
Het |
Lpcat3 |
A |
G |
6: 124,676,974 (GRCm39) |
Y124C |
probably damaging |
Het |
Lrrc8a |
T |
A |
2: 30,145,659 (GRCm39) |
S158T |
possibly damaging |
Het |
Mcm3 |
A |
T |
1: 20,880,320 (GRCm39) |
M504K |
possibly damaging |
Het |
Mro |
G |
T |
18: 73,997,003 (GRCm39) |
|
probably benign |
Het |
Mybpc3 |
A |
G |
2: 90,955,773 (GRCm39) |
|
probably null |
Het |
Myh14 |
T |
A |
7: 44,273,803 (GRCm39) |
K1356* |
probably null |
Het |
Myo5b |
A |
C |
18: 74,903,396 (GRCm39) |
Q1804P |
probably benign |
Het |
Nol10 |
A |
G |
12: 17,402,728 (GRCm39) |
I67V |
probably benign |
Het |
Pam |
T |
A |
1: 97,765,717 (GRCm39) |
I771F |
probably damaging |
Het |
Pcdhgb8 |
G |
T |
18: 37,895,142 (GRCm39) |
A71S |
probably benign |
Het |
Pmfbp1 |
T |
C |
8: 110,265,307 (GRCm39) |
|
probably null |
Het |
Poc1b |
C |
T |
10: 99,028,666 (GRCm39) |
A336V |
probably benign |
Het |
Poglut3 |
A |
G |
9: 53,303,308 (GRCm39) |
I67V |
possibly damaging |
Het |
Prap1 |
C |
A |
7: 139,674,995 (GRCm39) |
A20E |
possibly damaging |
Het |
Prox1 |
G |
A |
1: 189,892,975 (GRCm39) |
A490V |
probably damaging |
Het |
Prss39 |
G |
T |
1: 34,537,697 (GRCm39) |
V54F |
possibly damaging |
Het |
Sema3b |
T |
A |
9: 107,480,515 (GRCm39) |
E144V |
probably benign |
Het |
Sft2d1 |
C |
T |
17: 8,537,707 (GRCm39) |
T32I |
possibly damaging |
Het |
Smpd2 |
C |
T |
10: 41,364,442 (GRCm39) |
A160T |
probably damaging |
Het |
Stard9 |
G |
T |
2: 120,531,740 (GRCm39) |
V2666F |
probably damaging |
Het |
Syt7 |
T |
A |
19: 10,421,508 (GRCm39) |
M400K |
probably damaging |
Het |
Thoc5 |
T |
C |
11: 4,869,804 (GRCm39) |
L402P |
probably damaging |
Het |
Tinf2 |
A |
T |
14: 55,919,037 (GRCm39) |
M1K |
probably null |
Het |
Ttc21a |
A |
G |
9: 119,771,701 (GRCm39) |
I167V |
probably benign |
Het |
Vldlr |
T |
C |
19: 27,217,974 (GRCm39) |
L474P |
probably damaging |
Het |
Xirp2 |
T |
C |
2: 67,340,294 (GRCm39) |
V845A |
probably benign |
Het |
Zdhhc7 |
A |
T |
8: 120,811,663 (GRCm39) |
M180K |
probably damaging |
Het |
Zfp735 |
G |
A |
11: 73,601,434 (GRCm39) |
G126D |
probably damaging |
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 |
R1237:Angptl1
|
UTSW |
1 |
156,686,154 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- AACTTTGTTGTTTATGGTTGAGGCAC -3'
(R):5'- TTGAGGTTCTCCAGGTCCA -3'
Sequencing Primer
(F):5'- CTGCCTGTGTAGAAAAGATGTCTCC -3'
(R):5'- AGGTCCATCCTGGTGATCATGTC -3'
|
Posted On |
2018-09-12 |