Incidental Mutation 'IGL00780:Acvrl1'
| ID |
8564 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acvrl1
|
| Ensembl Gene |
ENSMUSG00000000530 |
| Gene Name |
activin A receptor, type II-like 1 |
| Synonyms |
activin receptor-like kinase-1, Alk-1, Acvrlk1, Alk1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00780
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
101026403-101043217 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101035248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 258
(F258Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000542]
[ENSMUST00000117984]
[ENSMUST00000119063]
[ENSMUST00000120028]
[ENSMUST00000120754]
[ENSMUST00000121718]
[ENSMUST00000124151]
[ENSMUST00000130432]
[ENSMUST00000144229]
|
| AlphaFold |
Q61288 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000542
AA Change: F258Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000542
Gene: ENSMUSG00000000530
AA Change: F258Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Activin_recp
|
31 |
102 |
2.1e-10 |
PFAM |
|
low complexity region
|
118 |
139 |
N/A |
INTRINSIC |
|
GS
|
171 |
201 |
5.72e-14 |
SMART |
|
Blast:TyrKc
|
207 |
478 |
1e-29 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117984
AA Change: F258Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113505
Gene: ENSMUSG00000000530
AA Change: F258Y
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2LCR|A
|
19 |
116 |
4e-43 |
PDB |
|
low complexity region
|
118 |
139 |
N/A |
INTRINSIC |
|
GS
|
171 |
201 |
5.72e-14 |
SMART |
|
Blast:TyrKc
|
207 |
478 |
1e-29 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119063
AA Change: F258Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113536
Gene: ENSMUSG00000000530
AA Change: F258Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Activin_recp
|
31 |
102 |
2.1e-10 |
PFAM |
|
low complexity region
|
118 |
139 |
N/A |
INTRINSIC |
|
GS
|
171 |
201 |
5.72e-14 |
SMART |
|
Blast:TyrKc
|
207 |
478 |
1e-29 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120028
AA Change: F258Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113297
Gene: ENSMUSG00000000530
AA Change: F258Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Activin_recp
|
31 |
102 |
2.1e-10 |
PFAM |
|
low complexity region
|
118 |
139 |
N/A |
INTRINSIC |
|
GS
|
171 |
201 |
5.72e-14 |
SMART |
|
Blast:TyrKc
|
207 |
478 |
1e-29 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120754
AA Change: F258Y
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112490
Gene: ENSMUSG00000000530
AA Change: F258Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Activin_recp
|
31 |
102 |
2.1e-10 |
PFAM |
|
low complexity region
|
118 |
139 |
N/A |
INTRINSIC |
|
GS
|
171 |
201 |
5.72e-14 |
SMART |
|
Blast:TyrKc
|
207 |
478 |
1e-29 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121718
AA Change: F258Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114027
Gene: ENSMUSG00000000530
AA Change: F258Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Activin_recp
|
31 |
102 |
2.1e-10 |
PFAM |
|
low complexity region
|
118 |
139 |
N/A |
INTRINSIC |
|
GS
|
171 |
201 |
5.72e-14 |
SMART |
|
Blast:TyrKc
|
207 |
478 |
1e-29 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124151
|
| SMART Domains |
Protein: ENSMUSP00000114829
Gene: ENSMUSG00000000530
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2LCR|A
|
19 |
76 |
8e-25 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128525
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130432
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144229
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene die at midgestation with severe vascular abnormalities, including fusion of major arteries and veins. Mice heterozygous for one targeted mutation provide a suitable model for hereditary hemorrhagic telangiectasia type 2. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
A |
G |
16: 56,423,168 (GRCm39) |
D440G |
probably null |
Het |
| Ano1 |
A |
G |
7: 144,209,367 (GRCm39) |
S278P |
probably damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,964,673 (GRCm39) |
D227G |
probably damaging |
Het |
| AW146154 |
T |
C |
7: 41,129,883 (GRCm39) |
Y411C |
probably damaging |
Het |
| Blnk |
T |
A |
19: 40,922,890 (GRCm39) |
K412M |
probably benign |
Het |
| Clpb |
C |
T |
7: 101,427,815 (GRCm39) |
R387* |
probably null |
Het |
| Dach1 |
A |
T |
14: 98,138,858 (GRCm39) |
N528K |
possibly damaging |
Het |
| Dag1 |
A |
T |
9: 108,086,818 (GRCm39) |
W108R |
probably damaging |
Het |
| Elapor2 |
A |
G |
5: 9,472,367 (GRCm39) |
T355A |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,229,060 (GRCm39) |
T717A |
probably damaging |
Het |
| Fnbp1l |
T |
C |
3: 122,342,898 (GRCm39) |
D394G |
possibly damaging |
Het |
| Gaa |
T |
A |
11: 119,165,117 (GRCm39) |
|
probably null |
Het |
| Gpr158 |
A |
T |
2: 21,831,629 (GRCm39) |
K910* |
probably null |
Het |
| Grb14 |
G |
A |
2: 64,745,062 (GRCm39) |
P99S |
probably damaging |
Het |
| Gtf2h2 |
T |
C |
13: 100,615,729 (GRCm39) |
D264G |
probably benign |
Het |
| Heatr3 |
A |
G |
8: 88,897,568 (GRCm39) |
I667V |
probably benign |
Het |
| Hsp90ab1 |
T |
C |
17: 45,880,490 (GRCm39) |
N407S |
probably damaging |
Het |
| Htr2a |
A |
T |
14: 74,943,645 (GRCm39) |
L408F |
possibly damaging |
Het |
| Itgb5 |
G |
A |
16: 33,705,345 (GRCm39) |
V212I |
probably damaging |
Het |
| Kmt2c |
G |
A |
5: 25,516,049 (GRCm39) |
T2598I |
probably benign |
Het |
| Lcorl |
T |
C |
5: 45,904,637 (GRCm39) |
N137S |
probably damaging |
Het |
| Lef1 |
T |
C |
3: 130,986,779 (GRCm39) |
F212L |
possibly damaging |
Het |
| Map2k5 |
T |
C |
9: 63,188,359 (GRCm39) |
|
probably benign |
Het |
| Med15 |
G |
A |
16: 17,471,351 (GRCm39) |
T642I |
probably damaging |
Het |
| Nasp |
C |
A |
4: 116,461,196 (GRCm39) |
E274* |
probably null |
Het |
| Nup210l |
A |
T |
3: 90,098,156 (GRCm39) |
|
probably benign |
Het |
| Pgghg |
T |
C |
7: 140,525,264 (GRCm39) |
|
probably null |
Het |
| Plpp1 |
A |
G |
13: 112,988,040 (GRCm39) |
I54M |
probably damaging |
Het |
| Poldip3 |
C |
T |
15: 83,022,680 (GRCm39) |
G35R |
probably damaging |
Het |
| Ppig |
A |
T |
2: 69,563,268 (GRCm39) |
E81D |
possibly damaging |
Het |
| Ptpn21 |
G |
T |
12: 98,646,630 (GRCm39) |
T999K |
probably damaging |
Het |
| Rad9b |
T |
C |
5: 122,482,310 (GRCm39) |
I142V |
probably benign |
Het |
| Ralgps1 |
A |
T |
2: 33,163,639 (GRCm39) |
H139Q |
probably damaging |
Het |
| Rdh16f2 |
T |
C |
10: 127,710,961 (GRCm39) |
|
probably null |
Het |
| Sema3d |
G |
A |
5: 12,574,293 (GRCm39) |
R265Q |
probably damaging |
Het |
| Tdp1 |
T |
C |
12: 99,859,907 (GRCm39) |
V198A |
possibly damaging |
Het |
| Trim43c |
A |
T |
9: 88,723,909 (GRCm39) |
D145V |
probably benign |
Het |
| Trpc4 |
C |
T |
3: 54,209,596 (GRCm39) |
P654S |
probably damaging |
Het |
| Yy1 |
T |
G |
12: 108,781,463 (GRCm39) |
I376S |
probably damaging |
Het |
| Zfp773 |
T |
A |
7: 7,136,113 (GRCm39) |
Q161L |
probably benign |
Het |
|
| Other mutations in Acvrl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00467:Acvrl1
|
APN |
15 |
101,041,221 (GRCm39) |
splice site |
probably null |
|
|
IGL01714:Acvrl1
|
APN |
15 |
101,035,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02962:Acvrl1
|
APN |
15 |
101,033,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03268:Acvrl1
|
APN |
15 |
101,033,803 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL03341:Acvrl1
|
APN |
15 |
101,035,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0256:Acvrl1
|
UTSW |
15 |
101,035,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Acvrl1
|
UTSW |
15 |
101,034,030 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1666:Acvrl1
|
UTSW |
15 |
101,035,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2402:Acvrl1
|
UTSW |
15 |
101,035,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3789:Acvrl1
|
UTSW |
15 |
101,035,350 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4720:Acvrl1
|
UTSW |
15 |
101,033,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4844:Acvrl1
|
UTSW |
15 |
101,033,409 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4995:Acvrl1
|
UTSW |
15 |
101,033,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5053:Acvrl1
|
UTSW |
15 |
101,035,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Acvrl1
|
UTSW |
15 |
101,032,628 (GRCm39) |
splice site |
probably null |
|
|
R5191:Acvrl1
|
UTSW |
15 |
101,034,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6981:Acvrl1
|
UTSW |
15 |
101,036,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7224:Acvrl1
|
UTSW |
15 |
101,041,245 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7231:Acvrl1
|
UTSW |
15 |
101,034,104 (GRCm39) |
nonsense |
probably null |
|
|
R7326:Acvrl1
|
UTSW |
15 |
101,038,953 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7555:Acvrl1
|
UTSW |
15 |
101,041,354 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7569:Acvrl1
|
UTSW |
15 |
101,033,636 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7627:Acvrl1
|
UTSW |
15 |
101,033,747 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8971:Acvrl1
|
UTSW |
15 |
101,033,404 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9038:Acvrl1
|
UTSW |
15 |
101,039,011 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9108:Acvrl1
|
UTSW |
15 |
101,039,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9398:Acvrl1
|
UTSW |
15 |
101,034,924 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation