Incidental Mutation 'R1351:Astl'
ID156636
Institutional Source Beutler Lab
Gene Symbol Astl
Ensembl Gene ENSMUSG00000050468
Gene Nameastacin-like metalloendopeptidase (M12 family)
SynonymsSas1b, C87576, Ovastacin
MMRRC Submission 039416-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.130) question?
Stock #R1351 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location127338639-127357651 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 127347185 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 144 (V144M)
Ref Sequence ENSEMBL: ENSMUSP00000135987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059839] [ENSMUST00000089673] [ENSMUST00000156747] [ENSMUST00000179618]
Predicted Effect possibly damaging
Transcript: ENSMUST00000059839
AA Change: V144M

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000054456
Gene: ENSMUSG00000050468
AA Change: V144M

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 possibly damaging
Transcript: ENSMUST00000089673
AA Change: V165M

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000087102
Gene: ENSMUSG00000050468
AA Change: V165M

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 benign
Transcript: ENSMUST00000156747
AA Change: V144M

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000116771
Gene: ENSMUSG00000050468
AA Change: V144M

DomainStartEndE-ValueType
Blast:ZnMc 31 60 6e-9 BLAST
ZnMc 69 193 4.02e-27 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000179618
AA Change: V144M

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135987
Gene: ENSMUSG00000050468
AA Change: V144M

DomainStartEndE-ValueType
Blast:ZnMc 31 60 4e-8 BLAST
ZnMc 69 213 1.13e-39 SMART
low complexity region 292 308 N/A INTRINSIC
Meta Mutation Damage Score 0.1234 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (51/51)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef26 A G 3: 62,380,841 E444G probably damaging Het
AW146154 A T 7: 41,480,454 C413S probably damaging Het
Bicdl2 G A 17: 23,667,545 probably benign Het
Cacna1h G T 17: 25,391,951 S624R probably benign Het
Car9 G T 4: 43,512,439 probably null Het
Cep126 C T 9: 8,100,086 E816K probably damaging Het
Cyp2j13 T C 4: 96,056,918 K291R probably benign Het
Defb26 A T 2: 152,507,817 M181K unknown Het
Dicer1 G A 12: 104,729,142 R177C probably damaging Het
Eif4g2 A G 7: 111,074,080 Y831H probably damaging Het
Ermap C T 4: 119,181,361 probably null Het
Fcamr C T 1: 130,813,020 T392I possibly damaging Het
Fgf3 T C 7: 144,840,780 probably benign Het
Gpr162 T C 6: 124,861,198 Y163C probably damaging Het
Gprc5d T C 6: 135,116,232 R226G possibly damaging Het
Hapln3 A C 7: 79,121,960 S60R probably damaging Het
Hif1a T C 12: 73,940,461 S443P probably benign Het
Irf2bpl A G 12: 86,882,624 M425T probably benign Het
Lrrc39 G T 3: 116,565,820 A5S possibly damaging Het
Mbtps1 A G 8: 119,518,162 L850S possibly damaging Het
Mios T A 6: 8,228,120 M679K possibly damaging Het
Mocos T C 18: 24,660,050 F68S probably damaging Het
Nuf2 T C 1: 169,510,549 probably benign Het
Olfr639 A G 7: 104,012,316 Y129H possibly damaging Het
Orc1 T A 4: 108,595,367 D146E probably benign Het
Papd5 C A 8: 88,200,374 Y137* probably null Het
Pcdhb22 T C 18: 37,518,574 F32L probably benign Het
Pde4d G T 13: 109,951,275 E562D possibly damaging Het
Pgk2 T C 17: 40,207,800 K246E probably damaging Het
Plekhh2 A T 17: 84,577,146 probably benign Het
Pou3f2 A T 4: 22,487,162 C324S probably damaging Het
Prkdc C T 16: 15,667,700 L464F possibly damaging Het
Prrc2a T C 17: 35,157,887 H749R possibly damaging Het
Rad18 T C 6: 112,620,902 N218S possibly damaging Het
Rbm11 T C 16: 75,596,643 Y76H possibly damaging Het
Rif1 T G 2: 52,111,555 Y1674D possibly damaging Het
Rrp1b A G 17: 32,056,637 H386R possibly damaging Het
Sacs T C 14: 61,202,761 V752A probably benign Het
Sema3c A G 5: 17,678,336 D314G possibly damaging Het
Spata2l G A 8: 123,233,333 R406C probably damaging Het
Tacc2 C T 7: 130,663,003 probably benign Het
Trpc4 A G 3: 54,195,002 E107G probably damaging Het
Vmn2r70 A G 7: 85,565,054 S297P probably damaging Het
Xdh A G 17: 73,923,078 I286T probably benign Het
Zfp608 T C 18: 54,898,391 T826A probably benign Het
Zfp646 T A 7: 127,883,511 V1620E probably benign Het
Zfyve28 T G 5: 34,232,205 D217A probably damaging Het
Zmym6 G A 4: 127,123,005 G768R probably benign Het
Other mutations in Astl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00671:Astl APN 2 127344021 splice site probably null
IGL01952:Astl APN 2 127342478 critical splice donor site probably null
R0833:Astl UTSW 2 127342419 missense probably benign
R0836:Astl UTSW 2 127342419 missense probably benign
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
Predicted Primers PCR Primer
(F):5'- CAAGCAGTGTCTGTCCTGATGTCC -3'
(R):5'- TGAACTCTTCAAGGGGAGGTGAGC -3'

Sequencing Primer
(F):5'- gaacccaagactaccagcc -3'
(R):5'- GAGGTGAGCCAACTCCTCAAC -3'
Posted On2014-02-11