Incidental Mutation 'R8938:Mpst'
ID 680802
Institutional Source Beutler Lab
Gene Symbol Mpst
Ensembl Gene ENSMUSG00000071711
Gene Name mercaptopyruvate sulfurtransferase
Synonyms
MMRRC Submission 068711-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8938 (G1)
Quality Score 203.009
Status Not validated
Chromosome 15
Chromosomal Location 78290918-78298213 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 78294270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000155399 (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: M1L

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043061
Gene: ENSMUSG00000071711
AA Change: M1L

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: M1L

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130493
Gene: ENSMUSG00000071711
AA Change: M1L

DomainStartEndE-ValueType
RHOD 11 141 1.36e-19 SMART
RHOD 164 285 1.11e-19 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000169133
AA Change: M1L

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128075
Gene: ENSMUSG00000071711
AA Change: M1L

DomainStartEndE-ValueType
RHOD 11 141 1.36e-19 SMART
RHOD 164 285 1.11e-19 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000229739
AA Change: M1L

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000229791
AA Change: M1L

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000231159
AA Change: M1L

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik A G 4: 73,861,424 (GRCm39) S59P probably damaging Het
Abcc8 G T 7: 45,816,418 (GRCm39) H241N Het
Acsm1 T C 7: 119,258,385 (GRCm39) S493P probably damaging Het
Agtr1a T C 13: 30,565,049 (GRCm39) I38T probably damaging Het
Ahnak T C 19: 8,989,099 (GRCm39) I3461T probably benign Het
Bbox1 T A 2: 110,100,529 (GRCm39) T223S probably benign Het
Brip1 T C 11: 86,039,227 (GRCm39) K436E possibly damaging Het
Cdhr1 T A 14: 36,809,405 (GRCm39) T299S probably benign Het
Cr2 T C 1: 194,853,424 (GRCm39) D18G probably damaging Het
Cyp51 T C 5: 4,150,202 (GRCm39) I174V probably benign Het
Dnah2 A T 11: 69,328,754 (GRCm39) Y3290N probably damaging Het
Fcho1 T G 8: 72,169,790 (GRCm39) K111T possibly damaging Het
Firrm C T 1: 163,789,541 (GRCm39) V665I probably benign Het
Gli2 A T 1: 118,763,935 (GRCm39) D1405E probably damaging Het
Gsg1l2 A G 11: 67,680,399 (GRCm39) H278R possibly damaging Het
H2-K2 T C 17: 34,216,294 (GRCm39) H284R probably damaging Het
Ighv1-62-1 C T 12: 115,350,735 (GRCm39) W5* probably null Het
Ighv1-81 T A 12: 115,883,988 (GRCm39) T88S probably benign Het
Igkv4-57 T A 6: 69,553,256 (GRCm39) M19L probably benign Het
Klk1b3 G T 7: 43,849,729 (GRCm39) W38L probably damaging Het
Lama3 T C 18: 12,689,762 (GRCm39) S2835P probably damaging Het
Lhx8 T C 3: 154,028,024 (GRCm39) N145S possibly damaging Het
Mfsd6 A T 1: 52,748,454 (GRCm39) L137H probably damaging Het
Mmp12 GTAATAATAATAATAATAAT GTAATAATAATAATAAT 9: 7,348,446 (GRCm39) probably benign Het
Mrpl2 T A 17: 46,957,238 (GRCm39) probably benign Het
Mybpc3 T C 2: 90,954,294 (GRCm39) V224A probably damaging Het
Nol4l T C 2: 153,262,651 (GRCm39) D63G probably damaging Het
Or8g36 A T 9: 39,422,910 (GRCm39) Y35* probably null Het
Patz1 C T 11: 3,240,660 (GRCm39) T16I probably damaging Het
Pcdha3 A G 18: 37,080,154 (GRCm39) I299V probably benign Het
Pcdhb18 G T 18: 37,623,537 (GRCm39) R289L probably benign Het
Pcdhga6 A T 18: 37,841,562 (GRCm39) R427S probably benign Het
Pcdhga8 T A 18: 37,859,955 (GRCm39) V337E probably damaging Het
Pik3c2b T A 1: 133,016,068 (GRCm39) W877R probably benign Het
Plcg2 T C 8: 118,231,114 (GRCm39) probably null Het
Prp2 C A 6: 132,577,581 (GRCm39) H289Q unknown Het
Rac2 A G 15: 78,446,112 (GRCm39) L192P probably damaging Het
Rfx4 T A 10: 84,675,936 (GRCm39) Y51N probably damaging Het
Rptn A T 3: 93,302,332 (GRCm39) Q16L possibly damaging Het
Ryr1 C T 7: 28,801,358 (GRCm39) G802D probably damaging Het
Shroom3 T C 5: 93,090,930 (GRCm39) S1146P probably damaging Het
Stam T C 2: 14,133,984 (GRCm39) probably null Het
Vmn2r100 A G 17: 19,751,825 (GRCm39) M623V probably benign Het
Wdr90 G A 17: 26,076,146 (GRCm39) R104C Het
Xkr7 T C 2: 152,874,133 (GRCm39) F67L probably damaging Het
Zfp451 A T 1: 33,842,063 (GRCm39) probably benign Het
Zfp609 C T 9: 65,610,561 (GRCm39) A801T possibly damaging Het
Zfp974 A T 7: 27,610,311 (GRCm39) H471Q possibly damaging 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
R3619:Mpst UTSW 15 78,294,322 (GRCm39) missense probably damaging 0.99
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
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'- TTATTCAAAGCCTGGCAGGG -3'
(R):5'- ACTGCAACGATCGATGTCG -3'

Sequencing Primer
(F):5'- CTCCCTGGGTGTTAAAGGCAGAG -3'
(R):5'- TCGATGTCGAAGAAGGCGGC -3'
Posted On 2021-08-31