Incidental Mutation 'IGL02049:Las1l'
ID185044
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Las1l
Ensembl Gene ENSMUSG00000057421
Gene NameLAS1-like (S. cerevisiae)
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02049
Quality Score
Status
ChromosomeX
Chromosomal Location95935335-95956962 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 95937453 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 690 (M690K)
Ref Sequence ENSEMBL: ENSMUSP00000078901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079987] [ENSMUST00000113864] [ENSMUST00000145362]
Predicted Effect probably benign
Transcript: ENSMUST00000079987
AA Change: M690K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000078901
Gene: ENSMUSG00000057421
AA Change: M690K

DomainStartEndE-ValueType
Pfam:Las1 27 173 1e-45 PFAM
low complexity region 183 205 N/A INTRINSIC
coiled coil region 522 609 N/A INTRINSIC
low complexity region 724 738 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113864
AA Change: M707K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000109495
Gene: ENSMUSG00000057421
AA Change: M707K

DomainStartEndE-ValueType
Pfam:Las1 28 172 6e-45 PFAM
low complexity region 183 205 N/A INTRINSIC
coiled coil region 539 626 N/A INTRINSIC
low complexity region 741 755 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126605
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137659
Predicted Effect probably benign
Transcript: ENSMUST00000145362
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T A 2: 35,364,789 R27S probably benign Het
4930596D02Rik C A 14: 35,811,578 V78L probably benign Het
Abca3 T A 17: 24,376,730 C352* probably null Het
Acat3 T A 17: 12,925,320 Y324F probably benign Het
Adamts8 T C 9: 30,951,354 V285A probably damaging Het
Anpep A G 7: 79,835,181 I652T probably damaging Het
Arhgef6 T A X: 57,275,911 Q320L probably damaging Het
Armh1 A T 4: 117,237,663 I60K probably benign Het
Atp11b T C 3: 35,800,493 V145A probably damaging Het
Cacna1c T C 6: 118,603,919 T1674A probably benign Het
Capn2 A T 1: 182,473,954 probably benign Het
Cfd A G 10: 79,890,942 Y6C probably benign Het
Cps1 A G 1: 67,143,954 K157R possibly damaging Het
Csmd3 T A 15: 48,001,474 R786S possibly damaging Het
Dna2 A T 10: 62,957,036 I277L probably damaging Het
Gm5168 A T X: 26,043,705 D50E probably damaging Het
Grik4 T A 9: 42,543,753 probably benign Het
Iqgap2 A G 13: 95,675,405 probably benign Het
Klk10 A T 7: 43,784,458 probably benign Het
Kng1 A G 16: 23,073,437 Y250C probably damaging Het
Mug1 T A 6: 121,871,336 M673K probably benign Het
Myh9 T C 15: 77,769,870 H1245R probably benign Het
Oprk1 C T 1: 5,598,844 T171I probably damaging Het
Pgm5 A T 19: 24,824,418 S149T probably benign Het
Pla2g4a T C 1: 149,861,096 N424S probably benign Het
Plec A T 15: 76,178,949 L2334Q probably damaging Het
Pus7l G A 15: 94,540,178 S262F probably damaging Het
Rps24 C A 14: 24,491,755 D3E probably benign Het
Rxfp1 T C 3: 79,650,492 N560D probably damaging Het
Sema3c C T 5: 17,721,925 probably benign Het
Slc47a2 A G 11: 61,342,539 F55S probably damaging Het
Slco1a6 A G 6: 142,101,583 probably benign Het
Taf4b A T 18: 14,830,139 E645D probably benign Het
Tmem161a T A 8: 70,178,974 V158E probably damaging Het
Trav13-2 A G 14: 53,635,147 S27G possibly damaging Het
Trav13-2 A T 14: 53,635,145 Q26L possibly damaging Het
Trav13-2 G T 14: 53,635,146 Q26H probably damaging Het
Ttc26 A G 6: 38,425,132 T520A probably benign Het
Vmn2r108 T A 17: 20,471,346 H305L probably benign Het
Zfp263 A G 16: 3,744,618 I82V probably damaging Het
Other mutations in Las1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02152:Las1l APN X 95953302 missense probably damaging 1.00
IGL02864:Las1l APN X 95947840 missense possibly damaging 0.78
FR4304:Las1l UTSW X 95940820 small insertion probably benign
FR4304:Las1l UTSW X 95940821 small insertion probably benign
FR4340:Las1l UTSW X 95940622 small insertion probably benign
FR4449:Las1l UTSW X 95940832 small insertion probably benign
FR4548:Las1l UTSW X 95940625 small insertion probably benign
FR4548:Las1l UTSW X 95940823 small insertion probably benign
FR4589:Las1l UTSW X 95940619 small insertion probably benign
FR4589:Las1l UTSW X 95940621 small deletion probably benign
FR4589:Las1l UTSW X 95940625 small insertion probably benign
FR4737:Las1l UTSW X 95940821 small insertion probably benign
FR4737:Las1l UTSW X 95940827 small insertion probably benign
FR4737:Las1l UTSW X 95940829 small insertion probably benign
FR4976:Las1l UTSW X 95940827 small insertion probably benign
FR4976:Las1l UTSW X 95940832 small insertion probably benign
FR4976:Las1l UTSW X 95940833 small insertion probably benign
R1400:Las1l UTSW X 95946900 missense possibly damaging 0.88
RF003:Las1l UTSW X 95940816 small insertion probably benign
RF008:Las1l UTSW X 95940816 small insertion probably benign
RF014:Las1l UTSW X 95940657 small deletion probably benign
RF025:Las1l UTSW X 95940620 nonsense probably null
RF042:Las1l UTSW X 95940620 small insertion probably benign
Posted On2014-05-07