Incidental Mutation 'R5943:Mri1'
ID 460424
Institutional Source Beutler Lab
Gene Symbol Mri1
Ensembl Gene ENSMUSG00000004996
Gene Name methylthioribose-1-phosphate isomerase 1
Synonyms 2410018C20Rik
MMRRC Submission 044135-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.277) question?
Stock # R5943 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 84977205-84983953 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 84980948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 194 (L194*)
Ref Sequence ENSEMBL: ENSMUSP00000122623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005120] [ENSMUST00000019506] [ENSMUST00000098578] [ENSMUST00000126435] [ENSMUST00000172320]
AlphaFold Q9CQT1
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: ENSMUST00000019506
SMART Domains Protein: ENSMUSP00000019506
Gene: ENSMUSG00000019362

DomainStartEndE-ValueType
Pfam:DUF2462 1 87 5.5e-25 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 probably null
Transcript: ENSMUST00000125498
AA Change: L68*
SMART Domains Protein: ENSMUSP00000117115
Gene: ENSMUSG00000004996
AA Change: L68*

DomainStartEndE-ValueType
Pfam:IF-2B 2 226 5.9e-55 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000126435
AA Change: L194*
SMART Domains Protein: ENSMUSP00000122623
Gene: ENSMUSG00000004996
AA Change: L194*

DomainStartEndE-ValueType
Pfam:IF-2B 44 346 4.8e-81 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127747
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164476
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140850
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
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.1%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 C A 17: 45,828,637 (GRCm39) Q671K probably benign Het
Acaa2 A G 18: 74,925,453 (GRCm39) H72R probably damaging Het
Acad8 A G 9: 26,910,740 (GRCm39) L18P probably benign Het
Acap3 T C 4: 155,983,879 (GRCm39) V115A possibly damaging Het
Adamts9 T C 6: 92,880,767 (GRCm39) T503A probably benign Het
Adcy1 T C 11: 7,111,337 (GRCm39) F876S probably damaging Het
Adgrv1 T C 13: 81,534,985 (GRCm39) E5760G probably damaging Het
Ankrd26 A T 6: 118,482,707 (GRCm39) I1631K probably damaging Het
Ccdc150 A G 1: 54,339,526 (GRCm39) T457A probably benign Het
Cd163 T C 6: 124,306,561 (GRCm39) *1160R probably null Het
Cdc6 T C 11: 98,811,589 (GRCm39) S517P probably damaging Het
Cenpf A T 1: 189,392,166 (GRCm39) D555E possibly damaging Het
Cfap251 A G 5: 123,424,420 (GRCm39) T205A probably benign Het
Clcn1 T A 6: 42,269,900 (GRCm39) I241N probably damaging Het
Clrn2 A T 5: 45,621,061 (GRCm39) I152F probably benign Het
Col4a4 A G 1: 82,502,737 (GRCm39) I349T unknown Het
Coq8b T A 7: 26,933,428 (GRCm39) F96L probably damaging Het
Cp A T 3: 20,018,470 (GRCm39) N58I probably benign Het
Dcst1 A T 3: 89,263,718 (GRCm39) probably null Het
Dhrs3 A T 4: 144,646,546 (GRCm39) M199L possibly damaging Het
Dido1 A T 2: 180,303,675 (GRCm39) S1410T probably benign Het
Dnase1l2 C T 17: 24,661,721 (GRCm39) A13T probably damaging Het
Duox1 G A 2: 122,163,916 (GRCm39) R861Q probably benign Het
Eya2 A G 2: 165,566,609 (GRCm39) H220R probably damaging Het
Fas T G 19: 34,297,987 (GRCm39) probably null Het
Fezf1 T A 6: 23,246,948 (GRCm39) K295* probably null Het
Gldn T G 9: 54,245,721 (GRCm39) I424R possibly damaging Het
Gnptab T C 10: 88,269,376 (GRCm39) V693A probably benign Het
Gsdma A T 11: 98,563,852 (GRCm39) T269S probably benign Het
Hectd4 A T 5: 121,460,357 (GRCm39) T2209S probably benign Het
Hoxd3 A G 2: 74,577,173 (GRCm39) N351S probably benign Het
Itpkc T A 7: 26,912,404 (GRCm39) N581I possibly damaging Het
Kank3 G T 17: 34,037,375 (GRCm39) E226D probably damaging Het
Krtap5-1 A G 7: 141,850,788 (GRCm39) S7P unknown Het
Lrriq3 A G 3: 154,869,587 (GRCm39) Y304C probably damaging Het
Man2a1 A G 17: 64,932,375 (GRCm39) K154R probably benign Het
Mdn1 T C 4: 32,678,330 (GRCm39) S653P probably damaging Het
Mtus1 T C 8: 41,537,302 (GRCm39) E138G probably benign Het
Myo3b G A 2: 70,117,285 (GRCm39) R906Q probably benign Het
Nckipsd C T 9: 108,689,435 (GRCm39) P199S possibly damaging Het
Or52n5 T A 7: 104,587,850 (GRCm39) I39N possibly damaging Het
Or9i16 C T 19: 13,865,116 (GRCm39) V153I possibly damaging Het
Pacsin1 T C 17: 27,925,045 (GRCm39) L253P probably damaging Het
Pcca T A 14: 122,896,188 (GRCm39) I268N probably damaging Het
Pcdhga8 A G 18: 37,949,565 (GRCm39) D327G probably damaging Het
Pcnx4 A G 12: 72,626,232 (GRCm39) H1146R probably damaging Het
Pnma8b T C 7: 16,680,362 (GRCm39) S449P probably benign Het
Psmb9 T C 17: 34,403,265 (GRCm39) E61G probably damaging Het
Pxylp1 A G 9: 96,721,203 (GRCm39) Y101H probably damaging Het
Radil A G 5: 142,471,213 (GRCm39) I1044T probably damaging Het
Rnf43 G A 11: 87,622,561 (GRCm39) R554H probably damaging Het
Sp5 A T 2: 70,305,659 (GRCm39) Q17L probably null Het
Spmip1 T A 6: 29,471,908 (GRCm39) L128Q possibly damaging Het
Strn C A 17: 78,977,276 (GRCm39) V211F probably damaging Het
Sult3a1 A G 10: 33,742,637 (GRCm39) D88G probably damaging Het
Trim14 T C 4: 46,522,136 (GRCm39) I180M probably benign Het
Tsnax C A 8: 125,751,278 (GRCm39) S90* probably null Het
Ttn A G 2: 76,798,780 (GRCm39) M498T probably benign Het
Vmn1r198 T A 13: 22,539,367 (GRCm39) Y195* probably null Het
Vmn2r70 T C 7: 85,215,199 (GRCm39) T112A probably benign Het
Wwc2 T C 8: 48,443,137 (GRCm39) N32S possibly damaging Het
Yme1l1 G T 2: 23,058,342 (GRCm39) R158L probably damaging Het
Zc2hc1c C A 12: 85,336,483 (GRCm39) H47N probably damaging Het
Zc3h10 C A 10: 128,381,396 (GRCm39) probably benign Het
Zfp825 T C 13: 74,629,007 (GRCm39) R170G probably benign Het
Other mutations in Mri1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00708:Mri1 APN 8 84,978,277 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACATACCTGGTTCTGGATGCC -3'
(R):5'- TTCAGGGTGTCAGGATGGAGAC -3'

Sequencing Primer
(F):5'- CTGGTTCTGGATGCCCAAGG -3'
(R):5'- CCTAGTCTACAAAGTGAGTTCCAGG -3'
Posted On 2017-02-28