Incidental Mutation 'IGL00708:Mri1'
ID 12734
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mri1
Ensembl Gene ENSMUSG00000004996
Gene Name methylthioribose-1-phosphate isomerase 1
Synonyms 2410018C20Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.322) question?
Stock # IGL00708
Quality Score
Status
Chromosome 8
Chromosomal Location 84977205-84983953 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84978277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 338 (I338N)
Ref Sequence ENSEMBL: ENSMUSP00000122623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019506] [ENSMUST00000126435]
AlphaFold Q9CQT1
Predicted Effect probably benign
Transcript: ENSMUST00000005122
SMART Domains Protein: ENSMUSP00000005122
Gene: ENSMUSG00000004996

DomainStartEndE-ValueType
Pfam:IF-2B 40 152 9.8e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000019506
SMART Domains Protein: ENSMUSP00000019506
Gene: ENSMUSG00000019362

DomainStartEndE-ValueType
Pfam:DUF2462 1 87 5.5e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125498
SMART Domains Protein: ENSMUSP00000117115
Gene: ENSMUSG00000004996

DomainStartEndE-ValueType
Pfam:IF-2B 2 226 5.9e-55 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000126435
AA Change: I338N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000122623
Gene: ENSMUSG00000004996
AA Change: I338N

DomainStartEndE-ValueType
Pfam:IF-2B 44 346 4.8e-81 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127747
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140850
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This enzyme functions in the methionine salvage pathway by catalyzing the interconversion of methylthioribose-1-phosphate and methythioribulose-1-phosphate. Elevated expression of the encoded protein is associated with metastatic melanoma and this protein promotes melanoma cell invasion independent of its enzymatic activity. Mutations in this gene may be associated with vanishing white matter disease (VMWD). [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 A G 7: 66,618,650 (GRCm39) E388G probably damaging Het
Arid4a T C 12: 71,119,502 (GRCm39) S374P probably benign Het
Ccdc186 A T 19: 56,801,879 (GRCm39) S79R probably benign Het
Cela3b C A 4: 137,149,280 (GRCm39) L241F probably benign Het
Dsg4 T A 18: 20,594,383 (GRCm39) V504D probably benign Het
Fhip1b C T 7: 105,037,467 (GRCm39) R372Q probably damaging Het
Meis2 C T 2: 115,694,725 (GRCm39) D473N probably benign Het
Mroh8 A G 2: 157,062,090 (GRCm39) S868P probably damaging Het
Mtus1 G A 8: 41,537,386 (GRCm39) T110I probably damaging Het
Mug2 A G 6: 122,024,446 (GRCm39) E506G possibly damaging Het
Napsa A G 7: 44,230,845 (GRCm39) T71A probably benign Het
Prepl T C 17: 85,385,935 (GRCm39) Y243C probably damaging Het
Prkdc A G 16: 15,597,290 (GRCm39) I2817V probably damaging Het
Rbm26 C T 14: 105,397,396 (GRCm39) V69I unknown Het
Tcerg1 T A 18: 42,704,190 (GRCm39) N949K probably benign Het
Tgfbr1 C T 4: 47,383,992 (GRCm39) T45I probably benign Het
Trim37 T A 11: 87,077,219 (GRCm39) D516E probably damaging Het
Wdr7 C T 18: 63,911,104 (GRCm39) T832M probably benign Het
Zfp280d T C 9: 72,219,417 (GRCm39) V198A probably benign Het
Other mutations in Mri1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02226:Mri1 APN 8 84,982,924 (GRCm39) missense probably damaging 1.00
IGL02642:Mri1 APN 8 84,983,702 (GRCm39) missense probably damaging 1.00
IGL03365:Mri1 APN 8 84,978,262 (GRCm39) missense possibly damaging 0.52
R1722:Mri1 UTSW 8 84,980,554 (GRCm39) missense possibly damaging 0.66
R4372:Mri1 UTSW 8 84,980,554 (GRCm39) missense probably benign 0.07
R4456:Mri1 UTSW 8 84,983,035 (GRCm39) missense probably benign 0.19
R5943:Mri1 UTSW 8 84,980,948 (GRCm39) nonsense probably null
R7084:Mri1 UTSW 8 84,977,708 (GRCm39) missense
R7142:Mri1 UTSW 8 84,983,753 (GRCm39) missense probably damaging 1.00
R7340:Mri1 UTSW 8 84,983,525 (GRCm39) missense probably benign 0.19
R7763:Mri1 UTSW 8 84,977,657 (GRCm39) missense
R7981:Mri1 UTSW 8 84,983,792 (GRCm39) missense possibly damaging 0.90
R9343:Mri1 UTSW 8 84,983,796 (GRCm39) missense probably benign 0.01
R9577:Mri1 UTSW 8 84,982,929 (GRCm39) missense probably damaging 0.98
R9778:Mri1 UTSW 8 84,980,933 (GRCm39) missense possibly damaging 0.77
R9782:Mri1 UTSW 8 84,980,933 (GRCm39) missense possibly damaging 0.77
Posted On 2012-12-06