Incidental Mutation 'R5669:Astl'
ID 442492
Institutional Source Beutler Lab
Gene Symbol Astl
Ensembl Gene ENSMUSG00000050468
Gene Name astacin like metalloendopeptidase
Synonyms C87576, Ovastacin, Sas1b
MMRRC Submission 043312-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R5669 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 127180559-127199571 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 127189199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 175 (R175L)
Ref Sequence ENSEMBL: ENSMUSP00000135987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059839] [ENSMUST00000089673] [ENSMUST00000156747] [ENSMUST00000179618]
AlphaFold Q6HA09
Predicted Effect probably damaging
Transcript: ENSMUST00000059839
AA Change: R175L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054456
Gene: ENSMUSG00000050468
AA Change: R175L

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 damaging
Transcript: ENSMUST00000089673
AA Change: R196L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087102
Gene: ENSMUSG00000050468
AA Change: R196L

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 probably damaging
Transcript: ENSMUST00000156747
AA Change: R175L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116771
Gene: ENSMUSG00000050468
AA Change: R175L

DomainStartEndE-ValueType
Blast:ZnMc 31 60 6e-9 BLAST
ZnMc 69 193 4.02e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000179618
AA Change: R175L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135987
Gene: ENSMUSG00000050468
AA Change: R175L

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
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Akap9 T A 5: 4,100,540 (GRCm39) L2734* probably null Het
Aldh1a1 T C 19: 20,588,284 (GRCm39) I25T probably damaging Het
BC035947 A T 1: 78,474,550 (GRCm39) C661S probably damaging Het
Cd160 C T 3: 96,716,214 (GRCm39) probably benign Het
Cdc42bpb C T 12: 111,268,447 (GRCm39) probably null Het
Cdip1 T A 16: 4,586,679 (GRCm39) I149F probably damaging Het
Cfap65 T C 1: 74,964,127 (GRCm39) Y607C probably damaging Het
Col6a5 A G 9: 105,803,197 (GRCm39) I1256T unknown Het
Copb1 A G 7: 113,836,820 (GRCm39) V336A probably damaging Het
Ddx42 A T 11: 106,132,645 (GRCm39) D556V probably damaging Het
Dlk1 T C 12: 109,425,964 (GRCm39) V279A probably benign Het
Fbll1 T C 11: 35,688,411 (GRCm39) N284S probably benign Het
Fbxw21 A T 9: 108,974,578 (GRCm39) I314N probably benign Het
Foxa3 T C 7: 18,748,176 (GRCm39) T317A probably benign Het
Gpr37 A T 6: 25,669,351 (GRCm39) C498S probably benign Het
Hapln3 G T 7: 78,767,244 (GRCm39) probably null Het
Igkv4-54 A G 6: 69,608,832 (GRCm39) V29A possibly damaging Het
Itgb8 T A 12: 119,154,363 (GRCm39) I225F probably damaging Het
Kcnk3 A G 5: 30,779,693 (GRCm39) T248A probably damaging Het
Kcnv1 T C 15: 44,977,648 (GRCm39) Q130R possibly damaging Het
Lrp1b T C 2: 41,001,050 (GRCm39) H2058R probably damaging Het
Macf1 T A 4: 123,370,018 (GRCm39) E1581V probably damaging Het
Mga A G 2: 119,733,907 (GRCm39) N252D probably damaging Het
Nadsyn1 C T 7: 143,361,168 (GRCm39) G335S probably damaging Het
Or10ag53 T C 2: 87,082,785 (GRCm39) V168A probably benign Het
Or7e165 T C 9: 19,695,053 (GRCm39) F208S probably benign Het
Pak5 G A 2: 135,958,204 (GRCm39) P295S probably damaging Het
Pcsk1 T A 13: 75,278,221 (GRCm39) S595T probably benign Het
Pepd T C 7: 34,740,099 (GRCm39) V324A probably benign Het
Pml C T 9: 58,154,346 (GRCm39) D176N probably benign Het
Popdc3 T A 10: 45,192,529 (GRCm39) I163N probably damaging Het
Ppp1r13l A C 7: 19,106,947 (GRCm39) T481P probably benign Het
Pramel13 T C 4: 144,122,413 (GRCm39) I44V probably benign Het
Prlh A G 1: 90,880,842 (GRCm39) T5A probably benign Het
Prom1 A G 5: 44,170,285 (GRCm39) F638S possibly damaging Het
Prpf8 T A 11: 75,395,564 (GRCm39) L1897H probably damaging Het
Ret T C 6: 118,161,204 (GRCm39) T91A probably benign Het
Retsat A G 6: 72,582,993 (GRCm39) S176G probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rnf213 T C 11: 119,349,611 (GRCm39) L3823P possibly damaging Het
Rnf31 C T 14: 55,834,161 (GRCm39) A653V probably damaging Het
Rps6kl1 T C 12: 85,194,641 (GRCm39) D90G probably damaging Het
Scarb1 A G 5: 125,377,451 (GRCm39) Y194H probably damaging Het
Scube2 C T 7: 109,424,646 (GRCm39) A556T probably benign Het
Serpinb1a A G 13: 33,029,299 (GRCm39) L243P probably damaging Het
Slc39a4 A C 15: 76,498,363 (GRCm39) L358R probably damaging Het
Slitrk5 A G 14: 111,919,055 (GRCm39) D893G probably damaging Het
Srgap1 C A 10: 121,640,755 (GRCm39) V681L probably benign Het
Tmprss6 A T 15: 78,339,156 (GRCm39) M262K possibly damaging Het
Ttf2 T A 3: 100,858,433 (GRCm39) K719* probably null Het
Vmn1r62 T A 7: 5,678,736 (GRCm39) L139* probably null Het
Zfp1004 A G 2: 150,034,098 (GRCm39) I140V probably benign Het
Other mutations in Astl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00671:Astl APN 2 127,185,941 (GRCm39) splice site probably null
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
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
Predicted Primers PCR Primer
(F):5'- CAGTGTCTGTCCTGATGTCCAG -3'
(R):5'- GCACGAATCCTACTTGCCTTG -3'

Sequencing Primer
(F):5'- GTGATAACTCCAGCCTGTGTCAAG -3'
(R):5'- CGAATCCTACTTGCCTTGTGAAAAG -3'
Posted On 2016-11-09