Incidental Mutation 'IGL03268:Acvrl1'
ID |
415167 |
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 # |
IGL03268
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
101026403-101043217 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 101033803 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 162
(I162F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114027
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000542]
[ENSMUST00000117984]
[ENSMUST00000119063]
[ENSMUST00000120028]
[ENSMUST00000120754]
[ENSMUST00000121718]
[ENSMUST00000124151]
[ENSMUST00000144229]
[ENSMUST00000130432]
|
AlphaFold |
Q61288 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000542
AA Change: I162F
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000000542 Gene: ENSMUSG00000000530 AA Change: I162F
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: ENSMUST00000117984
AA Change: I162F
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000113505 Gene: ENSMUSG00000000530 AA Change: I162F
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 |
possibly damaging
Transcript: ENSMUST00000119063
AA Change: I162F
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000113536 Gene: ENSMUSG00000000530 AA Change: I162F
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: ENSMUST00000120028
AA Change: I162F
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000113297 Gene: ENSMUSG00000000530 AA Change: I162F
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: ENSMUST00000120754
AA Change: I162F
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000112490 Gene: ENSMUSG00000000530 AA Change: I162F
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: ENSMUST00000121718
AA Change: I162F
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000114027 Gene: ENSMUSG00000000530 AA Change: I162F
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: ENSMUST00000153253
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128525
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128868
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144229
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130432
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1500002C15Rik |
G |
T |
4: 155,818,648 (GRCm39) |
|
probably benign |
Het |
Adprhl1 |
A |
G |
8: 13,296,170 (GRCm39) |
|
probably benign |
Het |
Anapc7 |
G |
A |
5: 122,567,669 (GRCm39) |
|
probably null |
Het |
Ankrd13a |
T |
C |
5: 114,930,296 (GRCm39) |
L227P |
probably damaging |
Het |
Anxa5 |
T |
C |
3: 36,504,828 (GRCm39) |
I245V |
probably benign |
Het |
Arf1 |
A |
T |
11: 59,103,663 (GRCm39) |
V123E |
possibly damaging |
Het |
Catsperg1 |
G |
A |
7: 28,899,668 (GRCm39) |
R338C |
probably damaging |
Het |
Cc2d1a |
A |
C |
8: 84,860,154 (GRCm39) |
L855R |
probably damaging |
Het |
Cdh18 |
G |
A |
15: 23,366,953 (GRCm39) |
A220T |
probably damaging |
Het |
Cep350 |
T |
C |
1: 155,829,295 (GRCm39) |
H203R |
probably benign |
Het |
Cep78 |
G |
T |
19: 15,951,806 (GRCm39) |
S333* |
probably null |
Het |
Chrna2 |
T |
A |
14: 66,388,395 (GRCm39) |
|
probably benign |
Het |
Dact1 |
T |
C |
12: 71,364,257 (GRCm39) |
V346A |
probably damaging |
Het |
Dcn |
A |
G |
10: 97,319,240 (GRCm39) |
I6V |
probably benign |
Het |
Dlg3 |
A |
G |
X: 99,853,493 (GRCm39) |
Y600C |
probably damaging |
Het |
Dmd |
A |
G |
X: 82,849,814 (GRCm39) |
E1084G |
probably damaging |
Het |
Epb41 |
A |
C |
4: 131,655,806 (GRCm39) |
D825E |
probably damaging |
Het |
Galc |
T |
A |
12: 98,188,852 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
T |
A |
1: 150,648,261 (GRCm39) |
D675V |
probably damaging |
Het |
Igkv2-137 |
A |
G |
6: 67,533,092 (GRCm39) |
D85G |
probably benign |
Het |
Kxd1 |
A |
G |
8: 70,961,136 (GRCm39) |
I78T |
probably damaging |
Het |
Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
Lama2 |
A |
T |
10: 27,298,649 (GRCm39) |
I149N |
probably damaging |
Het |
Mbnl2 |
G |
T |
14: 120,616,569 (GRCm39) |
C61F |
probably damaging |
Het |
Mcts1 |
T |
C |
X: 37,690,859 (GRCm39) |
I22T |
possibly damaging |
Het |
Or4k15b |
T |
C |
14: 50,272,024 (GRCm39) |
T279A |
probably damaging |
Het |
Or52e3 |
T |
G |
7: 102,869,848 (GRCm39) |
F308V |
probably benign |
Het |
Pde12 |
T |
A |
14: 26,389,614 (GRCm39) |
E365V |
probably benign |
Het |
Prl8a2 |
A |
G |
13: 27,537,938 (GRCm39) |
K204R |
probably benign |
Het |
Rnf25 |
A |
T |
1: 74,638,217 (GRCm39) |
|
probably benign |
Het |
Rragb |
A |
G |
X: 151,923,493 (GRCm39) |
D5G |
unknown |
Het |
Rsrc2 |
T |
A |
5: 123,878,790 (GRCm39) |
K56* |
probably null |
Het |
Scn5a |
T |
C |
9: 119,350,297 (GRCm39) |
Q859R |
probably damaging |
Het |
Septin4 |
G |
A |
11: 87,480,529 (GRCm39) |
V388M |
probably damaging |
Het |
Slc29a2 |
C |
T |
19: 5,074,531 (GRCm39) |
|
probably benign |
Het |
Slc30a5 |
G |
A |
13: 100,943,211 (GRCm39) |
T549I |
probably damaging |
Het |
Slc7a2 |
A |
G |
8: 41,365,554 (GRCm39) |
T462A |
probably benign |
Het |
Spsb2 |
A |
G |
6: 124,786,450 (GRCm39) |
E61G |
probably damaging |
Het |
Srr |
A |
G |
11: 74,803,943 (GRCm39) |
Y5H |
probably benign |
Het |
Suclg2 |
T |
C |
6: 95,546,573 (GRCm39) |
D301G |
probably damaging |
Het |
Syt14 |
A |
G |
1: 192,669,142 (GRCm39) |
V37A |
probably benign |
Het |
Syt9 |
A |
G |
7: 107,035,612 (GRCm39) |
N210D |
probably benign |
Het |
Tenm3 |
T |
C |
8: 48,688,558 (GRCm39) |
D2343G |
probably damaging |
Het |
Tma7 |
A |
G |
9: 108,907,450 (GRCm39) |
|
probably benign |
Het |
Tor3a |
T |
C |
1: 156,497,020 (GRCm39) |
D175G |
probably damaging |
Het |
Tpo |
G |
T |
12: 30,144,964 (GRCm39) |
A595D |
possibly damaging |
Het |
Tpst2 |
T |
C |
5: 112,456,091 (GRCm39) |
V210A |
probably damaging |
Het |
Uchl1 |
A |
T |
5: 66,839,824 (GRCm39) |
E122V |
probably benign |
Het |
Vmn1r210 |
A |
T |
13: 23,011,405 (GRCm39) |
F294I |
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 |
|
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 |
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 |
2016-08-02 |