Incidental Mutation 'IGL02962:Acvrl1'
| ID |
365389 |
| 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 # |
IGL02962
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
101026403-101043217 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101033382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 90
(Y90H)
|
| 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 |
probably benign
Transcript: ENSMUST00000000542
AA Change: Y90H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000000542
Gene: ENSMUSG00000000530
AA Change: Y90H
| 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: ENSMUST00000117984
AA Change: Y90H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000113505
Gene: ENSMUSG00000000530
AA Change: Y90H
| 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 benign
Transcript: ENSMUST00000119063
AA Change: Y90H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000113536
Gene: ENSMUSG00000000530
AA Change: Y90H
| 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: ENSMUST00000120028
AA Change: Y90H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000113297
Gene: ENSMUSG00000000530
AA Change: Y90H
| 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: Y90H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000112490
Gene: ENSMUSG00000000530
AA Change: Y90H
| 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: ENSMUST00000121718
AA Change: Y90H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000114027
Gene: ENSMUSG00000000530
AA Change: Y90H
| 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: ENSMUST00000128868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128525
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
A |
10: 100,446,455 (GRCm39) |
|
probably null |
Het |
| 9530068E07Rik |
T |
C |
11: 52,294,362 (GRCm39) |
V209A |
possibly damaging |
Het |
| Abca3 |
T |
A |
17: 24,619,383 (GRCm39) |
V907E |
probably damaging |
Het |
| Aff3 |
T |
C |
1: 38,574,737 (GRCm39) |
D81G |
probably damaging |
Het |
| Amn |
G |
T |
12: 111,240,951 (GRCm39) |
V152L |
probably damaging |
Het |
| Arhgap44 |
A |
G |
11: 64,957,987 (GRCm39) |
|
probably benign |
Het |
| Atad5 |
T |
A |
11: 79,999,405 (GRCm39) |
V895D |
possibly damaging |
Het |
| Card9 |
T |
G |
2: 26,248,029 (GRCm39) |
|
probably null |
Het |
| Ccer1 |
T |
C |
10: 97,529,702 (GRCm39) |
S122P |
unknown |
Het |
| Ccr2 |
A |
G |
9: 123,905,712 (GRCm39) |
|
probably benign |
Het |
| Dsg1a |
T |
A |
18: 20,473,381 (GRCm39) |
I818N |
possibly damaging |
Het |
| Ear10 |
G |
T |
14: 44,160,774 (GRCm39) |
L18I |
probably damaging |
Het |
| Mertk |
A |
G |
2: 128,619,374 (GRCm39) |
Y544C |
probably damaging |
Het |
| Miga1 |
A |
T |
3: 151,990,978 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,669,061 (GRCm39) |
V307A |
probably damaging |
Het |
| Or5p64 |
A |
T |
7: 107,854,910 (GRCm39) |
I145N |
possibly damaging |
Het |
| Or7a38 |
T |
A |
10: 78,752,773 (GRCm39) |
L33H |
probably damaging |
Het |
| Pou2f3 |
T |
C |
9: 43,036,384 (GRCm39) |
|
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,423,910 (GRCm39) |
E293V |
probably benign |
Het |
| Prickle2 |
A |
C |
6: 92,353,403 (GRCm39) |
S744A |
probably benign |
Het |
| Prkcb |
T |
A |
7: 122,024,270 (GRCm39) |
|
probably null |
Het |
| Prkd2 |
A |
G |
7: 16,603,757 (GRCm39) |
T813A |
probably benign |
Het |
| Prkra |
G |
A |
2: 76,463,891 (GRCm39) |
T257M |
probably damaging |
Het |
| Rbm18 |
C |
T |
2: 36,012,886 (GRCm39) |
R102Q |
probably damaging |
Het |
| Rbsn |
A |
G |
6: 92,167,307 (GRCm39) |
S446P |
probably benign |
Het |
| Rpgrip1l |
A |
T |
8: 91,996,990 (GRCm39) |
V28D |
possibly damaging |
Het |
| Sdccag8 |
A |
T |
1: 176,775,928 (GRCm39) |
K613I |
probably damaging |
Het |
| Serbp1 |
G |
A |
6: 67,244,103 (GRCm39) |
G8D |
probably damaging |
Het |
| Slc6a2 |
T |
A |
8: 93,699,390 (GRCm39) |
Y139* |
probably null |
Het |
| Slc7a2 |
T |
A |
8: 41,358,621 (GRCm39) |
F321L |
probably damaging |
Het |
| Slco1b2 |
G |
A |
6: 141,594,279 (GRCm39) |
S48N |
probably damaging |
Het |
| Ssbp2 |
G |
T |
13: 91,790,490 (GRCm39) |
V118L |
possibly damaging |
Het |
| Sugp1 |
T |
A |
8: 70,512,512 (GRCm39) |
|
probably benign |
Het |
| Taar5 |
C |
A |
10: 23,846,883 (GRCm39) |
R94S |
possibly damaging |
Het |
| Tgs1 |
G |
T |
4: 3,586,181 (GRCm39) |
A353S |
probably benign |
Het |
| Trav1 |
A |
G |
14: 52,666,099 (GRCm39) |
E32G |
probably damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,259,160 (GRCm39) |
V71A |
probably benign |
Het |
| Vmn2r50 |
T |
C |
7: 9,784,252 (GRCm39) |
Y74C |
probably damaging |
Het |
| Wars1 |
A |
T |
12: 108,841,706 (GRCm39) |
M147K |
probably damaging |
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 |
|
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 |
2015-12-18 |
Incidental Mutation