Incidental Mutation 'R3619:Mpst'
ID 268574
Institutional Source Beutler Lab
Gene Symbol Mpst
Ensembl Gene ENSMUSG00000071711
Gene Name mercaptopyruvate sulfurtransferase
Synonyms
MMRRC Submission 040676-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3619 (G1)
Quality Score 179
Status Not validated
Chromosome 15
Chromosomal Location 78290918-78298213 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78294322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 18 (E18G)
Ref Sequence ENSEMBL: ENSMUSP00000155018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043865] [ENSMUST00000058659] [ENSMUST00000167140] [ENSMUST00000169133] [ENSMUST00000229739] [ENSMUST00000229791] [ENSMUST00000231159]
AlphaFold Q99J99
Predicted Effect possibly damaging
Transcript: ENSMUST00000043865
AA Change: E18G

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043061
Gene: ENSMUSG00000071711
AA Change: E18G

DomainStartEndE-ValueType
RHOD 11 141 1.36e-19 SMART
RHOD 164 285 1.11e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000058659
SMART Domains Protein: ENSMUSP00000055743
Gene: ENSMUSG00000044986

DomainStartEndE-ValueType
RHOD 11 140 2.88e-18 SMART
RHOD 163 285 1.48e-20 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000167140
AA Change: E18G

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130493
Gene: ENSMUSG00000071711
AA Change: E18G

DomainStartEndE-ValueType
RHOD 11 141 1.36e-19 SMART
RHOD 164 285 1.11e-19 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000169133
AA Change: E18G

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128075
Gene: ENSMUSG00000071711
AA Change: E18G

DomainStartEndE-ValueType
RHOD 11 141 1.36e-19 SMART
RHOD 164 285 1.11e-19 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000229739
AA Change: E18G

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000229791
AA Change: E18G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000231159
AA Change: E18G

PolyPhen 2 Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231525
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein encoded by this gene catalyzes the transfer of a sulfur ion from 3-mercaptopyruvate to cyanide or other thiol compounds. It may be involved in cysteine degradation and cyanide detoxification. There is confusion in literature between this protein (mercaptopyruvate sulfurtransferase, MPST), which appears to be cytoplasmic, and thiosulfate sulfurtransferase (rhodanese, TST, GeneID:7263), which is a mitochondrial protein. Deficiency in MPST activity has been implicated in a rare inheritable disorder known as mercaptolactate-cysteine disulfiduria (MCDU). Alternatively spliced transcript variants encoding same or different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for a knock-out allele exhibit reduced male fertility. Mice homozygous for a knock-out allele exhibit normal fertility but increased anxiety-related behaviors and increased serotonin metabolite levels in the brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc82 T A 9: 13,251,931 (GRCm39) D74E probably benign Het
Chmp3 T A 6: 71,554,809 (GRCm39) I168N probably damaging Het
Dazap1 T C 10: 80,121,194 (GRCm39) probably benign Het
Dpp6 T C 5: 27,926,118 (GRCm39) S673P possibly damaging Het
Enpep G C 3: 129,077,807 (GRCm39) S603R possibly damaging Het
Fgf11 T C 11: 69,690,234 (GRCm39) S118G probably benign Het
Foxi3 T C 6: 70,934,047 (GRCm39) L178P probably damaging Het
Gbx1 G T 5: 24,731,111 (GRCm39) P235Q probably benign Het
Gm8267 A T 14: 44,961,513 (GRCm39) M60K possibly damaging Het
Gnmt G A 17: 47,039,963 (GRCm39) R39C possibly damaging Het
Hnrnpab T C 11: 51,493,438 (GRCm39) N257D possibly damaging Het
Klhl31 G T 9: 77,562,758 (GRCm39) A508S probably benign Het
Lrif1 A G 3: 106,639,862 (GRCm39) K316E probably damaging Het
Magi3 A T 3: 103,961,721 (GRCm39) F436I probably damaging Het
Mef2a G A 7: 66,918,075 (GRCm39) S111L probably benign Het
Micu1 T C 10: 59,604,080 (GRCm39) probably null Het
Npepps G T 11: 97,139,091 (GRCm39) F160L possibly damaging Het
Or10al2 T A 17: 37,983,531 (GRCm39) F206I probably benign Het
Or5p81 A T 7: 108,267,057 (GRCm39) I145F probably benign Het
Orc6 T C 8: 86,026,623 (GRCm39) probably null Het
Palm3 T A 8: 84,755,973 (GRCm39) V495E probably benign Het
Pam A G 1: 97,762,157 (GRCm39) F809L probably damaging Het
Pcdh15 T C 10: 74,479,227 (GRCm39) V708A probably benign Het
Pcdha12 G A 18: 37,153,757 (GRCm39) D159N probably damaging Het
Plxna1 C A 6: 89,334,435 (GRCm39) A65S probably damaging Het
Ptprt T C 2: 161,408,077 (GRCm39) Y945C probably damaging Het
Pym1 T G 10: 128,601,073 (GRCm39) V31G probably damaging Het
Stard9 C T 2: 120,529,500 (GRCm39) T1919I possibly damaging Het
Tas1r3 C T 4: 155,945,410 (GRCm39) V604I probably damaging Het
Ttc27 G A 17: 75,058,123 (GRCm39) probably null Het
Wfdc6b A T 2: 164,456,826 (GRCm39) Y46F probably benign Het
Zbtb48 A T 4: 152,110,484 (GRCm39) probably null Het
Zfp385b G A 2: 77,246,233 (GRCm39) P177S probably benign Het
Other mutations in Mpst
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02336:Mpst APN 15 78,294,474 (GRCm39) missense probably benign 0.05
IGL02353:Mpst APN 15 78,294,285 (GRCm39) missense probably damaging 1.00
IGL02360:Mpst APN 15 78,294,285 (GRCm39) missense probably damaging 1.00
IGL03037:Mpst APN 15 78,294,798 (GRCm39) missense probably benign 0.00
R5255:Mpst UTSW 15 78,294,708 (GRCm39) missense probably benign 0.00
R5256:Mpst UTSW 15 78,297,849 (GRCm39) missense probably damaging 0.99
R7473:Mpst UTSW 15 78,297,726 (GRCm39) missense probably damaging 1.00
R8384:Mpst UTSW 15 78,297,775 (GRCm39) nonsense probably null
R8938:Mpst UTSW 15 78,294,270 (GRCm39) start codon destroyed possibly damaging 0.87
R9297:Mpst UTSW 15 78,294,642 (GRCm39) missense probably damaging 1.00
R9318:Mpst UTSW 15 78,294,642 (GRCm39) missense probably damaging 1.00
R9616:Mpst UTSW 15 78,294,361 (GRCm39) nonsense probably null
R9632:Mpst UTSW 15 78,294,469 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCCTGGGTGTTAAAGGCAG -3'
(R):5'- TAGGCAGCATGTGGTCGTAG -3'

Sequencing Primer
(F):5'- CAAGGCCCTGTCTGAGTTC -3'
(R):5'- CATGTGGTCGTAGGGGGAC -3'
Posted On 2015-02-19