Incidental Mutation 'IGL00671:Astl'
| ID |
13304 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Astl
|
| Ensembl Gene |
ENSMUSG00000050468 |
| Gene Name |
astacin like metalloendopeptidase |
| Synonyms |
C87576, Ovastacin, Sas1b |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
IGL00671
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
127180559-127199571 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 127185941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059839]
[ENSMUST00000089673]
[ENSMUST00000156747]
[ENSMUST00000179618]
|
| AlphaFold |
Q6HA09 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000059839
|
| SMART Domains |
Protein: ENSMUSP00000054456
Gene: ENSMUSG00000050468
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnMc
|
31 |
60 |
4e-8 |
BLAST |
|
ZnMc
|
69 |
213 |
1.13e-39 |
SMART |
|
low complexity region
|
292 |
308 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000089673
|
| SMART Domains |
Protein: ENSMUSP00000087102
Gene: ENSMUSG00000050468
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Blast:ZnMc
|
52 |
81 |
5e-8 |
BLAST |
|
ZnMc
|
90 |
234 |
1.13e-39 |
SMART |
|
low complexity region
|
313 |
329 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000156747
|
| SMART Domains |
Protein: ENSMUSP00000116771
Gene: ENSMUSG00000050468
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnMc
|
31 |
60 |
6e-9 |
BLAST |
|
ZnMc
|
69 |
193 |
4.02e-27 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000179618
|
| SMART Domains |
Protein: ENSMUSP00000135987
Gene: ENSMUSG00000050468
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnMc
|
31 |
60 |
4e-8 |
BLAST |
|
ZnMc
|
69 |
213 |
1.13e-39 |
SMART |
|
low complexity region
|
292 |
308 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for knock-out alleles exhibit reduced female fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,980,745 (GRCm39) |
R576* |
probably null |
Het |
| Atp6v1h |
T |
C |
1: 5,194,694 (GRCm39) |
|
probably null |
Het |
| Avpr1a |
A |
T |
10: 122,285,256 (GRCm39) |
I183L |
probably benign |
Het |
| Cep83 |
A |
G |
10: 94,625,626 (GRCm39) |
T679A |
possibly damaging |
Het |
| Dennd1b |
A |
T |
1: 139,061,475 (GRCm39) |
I386F |
possibly damaging |
Het |
| Dnaaf6rt |
G |
A |
1: 31,262,053 (GRCm39) |
V12I |
probably benign |
Het |
| Ect2 |
T |
C |
3: 27,192,818 (GRCm39) |
N344S |
probably benign |
Het |
| Ghrh |
G |
A |
2: 157,175,389 (GRCm39) |
H31Y |
probably benign |
Het |
| Gpc6 |
A |
T |
14: 117,424,199 (GRCm39) |
T96S |
probably benign |
Het |
| Man2b1 |
A |
C |
8: 85,820,567 (GRCm39) |
D618A |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,084,183 (GRCm39) |
E1602G |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,411,067 (GRCm39) |
I175N |
probably damaging |
Het |
| Oga |
C |
A |
19: 45,753,979 (GRCm39) |
A632S |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,543,097 (GRCm39) |
|
probably null |
Het |
| Otop2 |
A |
G |
11: 115,222,735 (GRCm39) |
N539S |
probably damaging |
Het |
| Ralbp1 |
T |
A |
17: 66,171,607 (GRCm39) |
E122V |
possibly damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,723,940 (GRCm39) |
S413R |
possibly damaging |
Het |
| Tcf12 |
T |
A |
9: 71,775,400 (GRCm39) |
N450I |
probably damaging |
Het |
| Tle3 |
T |
A |
9: 61,319,652 (GRCm39) |
N492K |
probably damaging |
Het |
| Ttll8 |
T |
C |
15: 88,798,356 (GRCm39) |
D793G |
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,280,211 (GRCm39) |
T756A |
possibly damaging |
Het |
| Zfand1 |
T |
C |
3: 10,411,084 (GRCm39) |
H96R |
probably damaging |
Het |
| Zfp617 |
C |
T |
8: 72,686,386 (GRCm39) |
R239* |
probably null |
Het |
| Zmpste24 |
A |
G |
4: 120,940,012 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Astl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01952:Astl
|
APN |
2 |
127,184,398 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0833:Astl
|
UTSW |
2 |
127,184,339 (GRCm39) |
missense |
probably benign |
|
|
R0836:Astl
|
UTSW |
2 |
127,184,339 (GRCm39) |
missense |
probably benign |
|
|
R1351:Astl
|
UTSW |
2 |
127,189,105 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1672:Astl
|
UTSW |
2 |
127,189,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1809:Astl
|
UTSW |
2 |
127,187,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2145:Astl
|
UTSW |
2 |
127,189,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5669:Astl
|
UTSW |
2 |
127,189,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6057:Astl
|
UTSW |
2 |
127,187,889 (GRCm39) |
missense |
probably benign |
|
|
R6912:Astl
|
UTSW |
2 |
127,198,306 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7071:Astl
|
UTSW |
2 |
127,187,885 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7998:Astl
|
UTSW |
2 |
127,192,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8039:Astl
|
UTSW |
2 |
127,185,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8890:Astl
|
UTSW |
2 |
127,198,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9789:Astl
|
UTSW |
2 |
127,192,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Astl
|
UTSW |
2 |
127,198,465 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Posted On |
2012-12-06 |
Incidental Mutation