Incidental Mutation 'IGL00467:Acvrl1'
| ID |
4035 |
| 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 # |
IGL00467
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
101026403-101043217 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 101041221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000542]
[ENSMUST00000117984]
[ENSMUST00000119063]
[ENSMUST00000120028]
[ENSMUST00000120754]
[ENSMUST00000121718]
|
| AlphaFold |
Q61288 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000000542
|
| SMART Domains |
Protein: ENSMUSP00000000542
Gene: ENSMUSG00000000530
| 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 null
Transcript: ENSMUST00000117984
|
| SMART Domains |
Protein: ENSMUSP00000113505
Gene: ENSMUSG00000000530
| 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 null
Transcript: ENSMUST00000119063
|
| SMART Domains |
Protein: ENSMUSP00000113536
Gene: ENSMUSG00000000530
| 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 null
Transcript: ENSMUST00000120028
|
| SMART Domains |
Protein: ENSMUSP00000113297
Gene: ENSMUSG00000000530
| 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 null
Transcript: ENSMUST00000120754
|
| SMART Domains |
Protein: ENSMUSP00000112490
Gene: ENSMUSG00000000530
| 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 null
Transcript: ENSMUST00000121718
|
| SMART Domains |
Protein: ENSMUSP00000114027
Gene: ENSMUSG00000000530
| 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 |
noncoding transcript
Transcript: ENSMUST00000128525
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,036,496 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,984,587 (GRCm39) |
M1957K |
probably damaging |
Het |
| Brinp3 |
A |
G |
1: 146,777,512 (GRCm39) |
D653G |
probably damaging |
Het |
| Dcstamp |
T |
A |
15: 39,617,812 (GRCm39) |
C74S |
probably benign |
Het |
| Esrrg |
A |
G |
1: 187,943,107 (GRCm39) |
E360G |
probably damaging |
Het |
| Fam13a |
C |
T |
6: 58,917,098 (GRCm39) |
|
probably benign |
Het |
| Glipr1l1 |
A |
G |
10: 111,914,286 (GRCm39) |
T216A |
probably benign |
Het |
| Lama2 |
T |
A |
10: 27,343,193 (GRCm39) |
|
probably benign |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mta3 |
T |
A |
17: 84,063,113 (GRCm39) |
|
probably benign |
Het |
| Nfu1 |
A |
G |
6: 86,997,755 (GRCm39) |
M213V |
possibly damaging |
Het |
| Pam |
A |
T |
1: 97,852,152 (GRCm39) |
|
probably benign |
Het |
| Pcca |
A |
T |
14: 122,820,041 (GRCm39) |
M62L |
probably benign |
Het |
| Phf6 |
A |
G |
X: 52,020,523 (GRCm39) |
Y25C |
probably damaging |
Het |
| Phlpp2 |
C |
T |
8: 110,652,422 (GRCm39) |
H589Y |
probably benign |
Het |
| Ppp1r13b |
A |
G |
12: 111,795,804 (GRCm39) |
I956T |
probably damaging |
Het |
| Prkcd |
G |
A |
14: 30,324,379 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
A |
T |
2: 72,086,656 (GRCm39) |
N973I |
possibly damaging |
Het |
| Rnf20 |
G |
T |
4: 49,655,480 (GRCm39) |
E905* |
probably null |
Het |
| Slc26a6 |
T |
A |
9: 108,733,088 (GRCm39) |
D22E |
probably benign |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Taf6l |
A |
T |
19: 8,760,752 (GRCm39) |
N57K |
probably benign |
Het |
| Tas2r109 |
C |
A |
6: 132,956,986 (GRCm39) |
V315L |
probably benign |
Het |
| Tasor |
A |
G |
14: 27,170,121 (GRCm39) |
N350S |
probably benign |
Het |
| Tex9 |
T |
C |
9: 72,385,117 (GRCm39) |
T240A |
probably benign |
Het |
| Trank1 |
G |
A |
9: 111,193,734 (GRCm39) |
|
probably benign |
Het |
| Trim30c |
A |
T |
7: 104,031,389 (GRCm39) |
Y475* |
probably null |
Het |
| Trim60 |
T |
C |
8: 65,453,371 (GRCm39) |
T293A |
possibly damaging |
Het |
| Ttc21b |
T |
C |
2: 66,018,708 (GRCm39) |
Y1233C |
probably damaging |
Het |
| Wdr75 |
A |
G |
1: 45,841,235 (GRCm39) |
I106V |
probably benign |
Het |
| Zkscan16 |
T |
C |
4: 58,957,709 (GRCm39) |
S664P |
possibly damaging |
Het |
|
| Other mutations in Acvrl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00780:Acvrl1
|
APN |
15 |
101,035,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2012-04-20 |
Incidental Mutation