Incidental Mutation 'IGL02226:Mri1'
ID285363
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mri1
Ensembl Gene ENSMUSG00000004996
Gene Namemethylthioribose-1-phosphate isomerase 1
Synonyms2410018C20Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.389) question?
Stock #IGL02226
Quality Score
Status
Chromosome8
Chromosomal Location84249906-84257326 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84256295 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 166 (T166A)
Ref Sequence ENSEMBL: ENSMUSP00000122623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005120] [ENSMUST00000098578] [ENSMUST00000126435] [ENSMUST00000172320]
Predicted Effect probably benign
Transcript: ENSMUST00000005120
SMART Domains Protein: ENSMUSP00000005120
Gene: ENSMUSG00000004994

DomainStartEndE-ValueType
Pfam:DUF572 1 198 1.7e-85 PFAM
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: ENSMUST00000098578
SMART Domains Protein: ENSMUSP00000096177
Gene: ENSMUSG00000004994

DomainStartEndE-ValueType
Pfam:DUF572 1 384 1.4e-101 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000125498
AA Change: T40A
SMART Domains Protein: ENSMUSP00000117115
Gene: ENSMUSG00000004996
AA Change: T40A

DomainStartEndE-ValueType
Pfam:IF-2B 2 226 5.9e-55 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000126435
AA Change: T166A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122623
Gene: ENSMUSG00000004996
AA Change: T166A

DomainStartEndE-ValueType
Pfam:IF-2B 44 346 4.8e-81 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127747
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164476
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166285
Predicted Effect probably benign
Transcript: ENSMUST00000172320
SMART Domains Protein: ENSMUSP00000128605
Gene: ENSMUSG00000004994

DomainStartEndE-ValueType
Pfam:DUF572 1 68 1.4e-31 PFAM
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930415L06Rik A C X: 89,931,912 D226E probably damaging Het
Akap6 T C 12: 53,010,467 probably benign Het
Ankrd11 G A 8: 122,892,245 R1602W probably damaging Het
Arhgap23 G T 11: 97,451,600 R236L probably benign Het
Aurkaip1 T C 4: 155,832,571 V92A probably benign Het
Cdh20 A T 1: 104,954,091 probably benign Het
Ctnnd2 A G 15: 30,847,336 N691S probably benign Het
Ddx24 A C 12: 103,424,458 D2E possibly damaging Het
Dennd5b A G 6: 149,033,301 S691P probably benign Het
Dhrs3 C T 4: 144,923,949 R248W possibly damaging Het
Dlgap1 T C 17: 70,516,034 S5P probably damaging Het
Ep300 A T 15: 81,613,412 M510L unknown Het
Fbxo25 T C 8: 13,923,922 probably benign Het
Gm3252 A T 14: 4,743,741 K193M possibly damaging Het
Gtf3c1 T C 7: 125,667,990 probably null Het
Helz2 T C 2: 181,231,690 D2337G probably damaging Het
Idh1 A T 1: 65,161,922 M290K probably damaging Het
Layn T C 9: 51,074,017 S80G probably damaging Het
Ltbp4 C T 7: 27,306,934 E1440K probably damaging Het
Myod1 C T 7: 46,378,306 T290I probably benign Het
Nfat5 T A 8: 107,351,522 L431* probably null Het
Nle1 A T 11: 82,904,307 Y299* probably null Het
Nlrp4c T A 7: 6,066,829 F576L possibly damaging Het
Nudt21 G T 8: 94,019,701 S123* probably null Het
Plekhg1 A C 10: 3,945,916 D436A probably damaging Het
Plxna2 T C 1: 194,644,424 V222A probably damaging Het
Rbm14 A G 19: 4,801,717 probably benign Het
Scfd1 T A 12: 51,389,381 probably benign Het
Slc34a2 A G 5: 53,067,731 T405A probably benign Het
Slc39a9 T A 12: 80,644,921 M14K probably damaging Het
Slc39a9 G A 12: 80,644,922 M14I probably damaging Het
Spast G A 17: 74,372,339 probably benign Het
Spen T C 4: 141,478,146 R1057G unknown Het
Sptbn4 T G 7: 27,365,707 T2056P probably damaging Het
Ssrp1 T C 2: 85,040,361 L148P probably damaging Het
Tdrd6 T A 17: 43,627,202 H985L probably damaging Het
Tmem44 A G 16: 30,539,381 probably benign Het
Vmn2r116 T A 17: 23,384,834 L11Q probably null Het
Wdr78 A T 4: 103,090,398 I227K probably benign Het
Other mutations in Mri1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00708:Mri1 APN 8 84251648 missense probably damaging 1.00
IGL02642:Mri1 APN 8 84257073 missense probably damaging 1.00
IGL03365:Mri1 APN 8 84251633 missense possibly damaging 0.52
R1722:Mri1 UTSW 8 84253925 missense possibly damaging 0.66
R4372:Mri1 UTSW 8 84253925 missense probably benign 0.07
R4456:Mri1 UTSW 8 84256406 missense probably benign 0.19
R5943:Mri1 UTSW 8 84254319 nonsense probably null
R7084:Mri1 UTSW 8 84251079 missense
R7142:Mri1 UTSW 8 84257124 missense probably damaging 1.00
Posted On2015-04-16