Incidental Mutation 'IGL01952:Astl'
ID181091
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Astl
Ensembl Gene ENSMUSG00000050468
Gene Nameastacin-like metalloendopeptidase (M12 family)
SynonymsSas1b, C87576, Ovastacin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.122) question?
Stock #IGL01952
Quality Score
Status
Chromosome2
Chromosomal Location127338639-127357651 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 127342478 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028846] [ENSMUST00000059839] [ENSMUST00000089673] [ENSMUST00000156747] [ENSMUST00000179618]
Predicted Effect probably benign
Transcript: ENSMUST00000028846
SMART Domains Protein: ENSMUSP00000028846
Gene: ENSMUSG00000027368

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bod1l C T 5: 41,816,954 C2339Y possibly damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Celsr1 T A 15: 85,963,223 I1438F probably benign Het
Dbr1 T A 9: 99,582,412 N297K possibly damaging Het
Dmxl1 A G 18: 49,890,654 H1668R probably benign Het
Dnajb11 A G 16: 22,865,500 E91G probably damaging Het
Elmsan1 G A 12: 84,173,266 P305S probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Grin2d C A 7: 45,862,280 R247L probably benign Het
Gzf1 G A 2: 148,684,061 A151T probably benign Het
Hacl1 C T 14: 31,641,122 probably benign Het
Hivep2 C A 10: 14,142,331 T1854K possibly damaging Het
Htr1d T C 4: 136,443,561 V367A probably benign Het
Ifi208 T C 1: 173,679,031 S127P possibly damaging Het
Ifngr2 C T 16: 91,559,988 P137S probably damaging Het
Lcn9 T C 2: 25,824,538 L138P probably damaging Het
Mdn1 T C 4: 32,723,657 V2531A possibly damaging Het
Meioc A T 11: 102,672,185 I70F possibly damaging Het
Mlph A C 1: 90,933,471 D276A probably benign Het
Myh1 T A 11: 67,220,392 probably null Het
Nlrp9a G A 7: 26,558,019 S265N probably benign Het
Ofcc1 G A 13: 40,280,861 A22V probably damaging Het
Olfr736 T A 14: 50,393,403 F216I probably benign Het
Pisd C A 5: 32,739,132 probably null Het
Prlr A G 15: 10,328,342 D301G possibly damaging Het
Ptk2 T C 15: 73,229,931 E810G probably damaging Het
Slco1b2 T G 6: 141,671,230 F430V probably benign Het
Supt6 T C 11: 78,225,760 K646R probably benign Het
Tmem260 C T 14: 48,472,476 A52V probably damaging Het
Tmpo G A 10: 91,163,242 R228C probably benign Het
Tulp1 G A 17: 28,356,424 T103M probably damaging Het
Vwa5b1 G A 4: 138,581,217 P770S probably benign Het
Wdr63 T C 3: 146,097,163 H91R probably damaging Het
Zfp639 A G 3: 32,515,347 Y18C probably damaging Het
Other mutations in Astl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00671:Astl APN 2 127344021 splice site probably null
R0833:Astl UTSW 2 127342419 missense probably benign
R0836:Astl UTSW 2 127342419 missense probably benign
R1351:Astl UTSW 2 127347185 missense possibly damaging 0.95
R1672:Astl UTSW 2 127347243 missense probably damaging 1.00
R1809:Astl UTSW 2 127345485 missense probably damaging 1.00
R2145:Astl UTSW 2 127347189 missense probably damaging 1.00
R5669:Astl UTSW 2 127347279 missense probably damaging 1.00
R6057:Astl UTSW 2 127345969 missense probably benign
R6912:Astl UTSW 2 127356386 missense probably benign 0.09
R7071:Astl UTSW 2 127345965 missense probably benign 0.00
R7998:Astl UTSW 2 127350499 missense probably damaging 1.00
R8039:Astl UTSW 2 127343983 missense probably damaging 1.00
Z1176:Astl UTSW 2 127356545 missense probably benign 0.23
Posted On2014-05-07