Incidental Mutation 'IGL02129:Mthfsl'
ID 280971
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mthfsl
Ensembl Gene ENSMUSG00000079427
Gene Name 5, 10-methenyltetrahydrofolate synthetase-like
Synonyms Gm2382
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02129
Quality Score
Status
Chromosome 9
Chromosomal Location 88570655-88602349 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88597589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 111 (I111F)
Ref Sequence ENSEMBL: ENSMUSP00000108734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113110] [ENSMUST00000186863]
AlphaFold L7N466
Predicted Effect probably damaging
Transcript: ENSMUST00000113110
AA Change: I111F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108734
Gene: ENSMUSG00000079427
AA Change: I111F

DomainStartEndE-ValueType
Pfam:5-FTHF_cyc-lig 10 198 1.6e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186721
Predicted Effect probably damaging
Transcript: ENSMUST00000186863
AA Change: I54F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186975
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191235
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190027
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1a3 T A 7: 24,696,711 (GRCm39) H293L probably damaging Het
AU040320 A G 4: 126,717,485 (GRCm39) Y354C probably damaging Het
Bag4 T C 8: 26,258,113 (GRCm39) T405A probably damaging Het
Best1 T A 19: 9,970,285 (GRCm39) Q109L probably benign Het
Bod1l G A 5: 41,979,193 (GRCm39) T707I probably benign Het
Bora G A 14: 99,294,257 (GRCm39) probably null Het
Btnl9 A C 11: 49,060,100 (GRCm39) D464E probably damaging Het
Cebpe T A 14: 54,949,070 (GRCm39) R116W probably damaging Het
Col6a6 T C 9: 105,613,539 (GRCm39) probably benign Het
Copb2 T C 9: 98,467,976 (GRCm39) probably benign Het
Ep300 A G 15: 81,470,837 (GRCm39) E3G unknown Het
Fam117b A G 1: 60,020,582 (GRCm39) H484R probably benign Het
Fgb T A 3: 82,950,725 (GRCm39) K343M probably benign Het
Fkbpl C T 17: 34,864,952 (GRCm39) T240M probably damaging Het
Gemin6 T C 17: 80,535,355 (GRCm39) L105P probably damaging Het
Heatr3 T C 8: 88,884,899 (GRCm39) probably benign Het
Itch C T 2: 155,059,908 (GRCm39) probably benign Het
Kank3 C T 17: 34,036,465 (GRCm39) P111L probably benign Het
Mtor A T 4: 148,634,302 (GRCm39) M2382L possibly damaging Het
Myh2 A G 11: 67,076,084 (GRCm39) D757G probably benign Het
Naa35 A G 13: 59,757,339 (GRCm39) D238G probably damaging Het
Nckap5 A T 1: 125,955,432 (GRCm39) Y373* probably null Het
Or5an10 T A 19: 12,275,822 (GRCm39) I225F probably damaging Het
Pigm G A 1: 172,205,434 (GRCm39) W390* probably null Het
Plxnb2 A G 15: 89,044,613 (GRCm39) V1211A probably benign Het
Sh3yl1 T A 12: 30,992,876 (GRCm39) probably benign Het
Spg11 T A 2: 121,926,167 (GRCm39) Q709H probably damaging Het
Spr-ps1 A G 6: 85,132,804 (GRCm39) noncoding transcript Het
Tc2n T C 12: 101,656,048 (GRCm39) N208D probably damaging Het
Tdo2 C T 3: 81,866,232 (GRCm39) V344M probably damaging Het
Ttll1 G A 15: 83,368,450 (GRCm39) P403S probably benign Het
Usp20 T C 2: 30,894,462 (GRCm39) V126A probably benign Het
Zfp109 T C 7: 23,936,054 (GRCm39) T2A possibly damaging Het
Other mutations in Mthfsl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01558:Mthfsl APN 9 88,570,870 (GRCm39) missense possibly damaging 0.84
IGL02220:Mthfsl APN 9 88,597,708 (GRCm39) missense probably damaging 0.99
R4331:Mthfsl UTSW 9 88,570,834 (GRCm39) missense probably damaging 1.00
R4915:Mthfsl UTSW 9 88,597,550 (GRCm39) missense probably damaging 0.97
R4917:Mthfsl UTSW 9 88,597,550 (GRCm39) missense probably damaging 0.97
R6115:Mthfsl UTSW 9 88,570,807 (GRCm39) makesense probably null
R8551:Mthfsl UTSW 9 88,570,943 (GRCm39) missense possibly damaging 0.91
Z1177:Mthfsl UTSW 9 88,571,038 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16