Incidental Mutation 'IGL01952:Astl'
| ID |
181091 |
| 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: 0.085)
|
| Stock # |
IGL01952
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
127180559-127199571 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 127184398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028846]
[ENSMUST00000059839]
[ENSMUST00000089673]
[ENSMUST00000156747]
[ENSMUST00000179618]
|
| AlphaFold |
Q6HA09 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028846
|
| SMART Domains |
Protein: ENSMUSP00000028846
Gene: ENSMUSG00000027368
| Domain | Start | End | E-Value | Type |
|---|
|
RHOD
|
17 |
145 |
6.72e-10 |
SMART |
|
DSPc
|
176 |
314 |
1.49e-61 |
SMART |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000146479
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bod1l |
C |
T |
5: 41,974,297 (GRCm39) |
C2339Y |
possibly damaging |
Het |
| Celsr1 |
T |
A |
15: 85,847,424 (GRCm39) |
I1438F |
probably benign |
Het |
| Dbr1 |
T |
A |
9: 99,464,465 (GRCm39) |
N297K |
possibly damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,023,721 (GRCm39) |
H1668R |
probably benign |
Het |
| Dnai3 |
T |
C |
3: 145,802,918 (GRCm39) |
H91R |
probably damaging |
Het |
| Dnajb11 |
A |
G |
16: 22,684,250 (GRCm39) |
E91G |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Grin2d |
C |
A |
7: 45,511,704 (GRCm39) |
R247L |
probably benign |
Het |
| Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
| Hacl1 |
C |
T |
14: 31,363,079 (GRCm39) |
|
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,018,075 (GRCm39) |
T1854K |
possibly damaging |
Het |
| Htr1d |
T |
C |
4: 136,170,872 (GRCm39) |
V367A |
probably benign |
Het |
| Ifi208 |
T |
C |
1: 173,506,597 (GRCm39) |
S127P |
possibly damaging |
Het |
| Ifngr2 |
C |
T |
16: 91,356,876 (GRCm39) |
P137S |
probably damaging |
Het |
| Lcn9 |
T |
C |
2: 25,714,550 (GRCm39) |
L138P |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,723,657 (GRCm39) |
V2531A |
possibly damaging |
Het |
| Meioc |
A |
T |
11: 102,563,011 (GRCm39) |
I70F |
possibly damaging |
Het |
| Mideas |
G |
A |
12: 84,220,040 (GRCm39) |
P305S |
probably benign |
Het |
| Mlph |
A |
C |
1: 90,861,193 (GRCm39) |
D276A |
probably benign |
Het |
| Myh1 |
T |
A |
11: 67,111,218 (GRCm39) |
|
probably null |
Het |
| Nlrp9a |
G |
A |
7: 26,257,444 (GRCm39) |
S265N |
probably benign |
Het |
| Ofcc1 |
G |
A |
13: 40,434,337 (GRCm39) |
A22V |
probably damaging |
Het |
| Or11j4 |
T |
A |
14: 50,630,860 (GRCm39) |
F216I |
probably benign |
Het |
| Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
| Prlr |
A |
G |
15: 10,328,428 (GRCm39) |
D301G |
possibly damaging |
Het |
| Ptk2 |
T |
C |
15: 73,101,780 (GRCm39) |
E810G |
probably damaging |
Het |
| Slco1b2 |
T |
G |
6: 141,616,956 (GRCm39) |
F430V |
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Supt6 |
T |
C |
11: 78,116,586 (GRCm39) |
K646R |
probably benign |
Het |
| Tmem260 |
C |
T |
14: 48,709,933 (GRCm39) |
A52V |
probably damaging |
Het |
| Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
| Tulp1 |
G |
A |
17: 28,575,398 (GRCm39) |
T103M |
probably damaging |
Het |
| Vwa5b1 |
G |
A |
4: 138,308,528 (GRCm39) |
P770S |
probably benign |
Het |
| Zfp639 |
A |
G |
3: 32,569,496 (GRCm39) |
Y18C |
probably damaging |
Het |
|
| Other mutations in Astl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00671:Astl
|
APN |
2 |
127,185,941 (GRCm39) |
splice 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 |
2014-05-07 |
Incidental Mutation