Incidental Mutation 'IGL02336:Mpst'
ID 288863
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpst
Ensembl Gene ENSMUSG00000071711
Gene Name mercaptopyruvate sulfurtransferase
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02336
Quality Score
Status
Chromosome 15
Chromosomal Location 78290918-78298213 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 78294474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 69 (T69S)
Ref Sequence ENSEMBL: ENSMUSP00000155371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043865] [ENSMUST00000058659] [ENSMUST00000167140] [ENSMUST00000169133] [ENSMUST00000229739] [ENSMUST00000229791] [ENSMUST00000231159]
AlphaFold Q99J99
Predicted Effect probably benign
Transcript: ENSMUST00000043865
AA Change: T69S

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000043061
Gene: ENSMUSG00000071711
AA Change: T69S

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 probably benign
Transcript: ENSMUST00000167140
AA Change: T69S

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000130493
Gene: ENSMUSG00000071711
AA Change: T69S

DomainStartEndE-ValueType
RHOD 11 141 1.36e-19 SMART
RHOD 164 285 1.11e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169133
AA Change: T69S

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000128075
Gene: ENSMUSG00000071711
AA Change: T69S

DomainStartEndE-ValueType
RHOD 11 141 1.36e-19 SMART
RHOD 164 285 1.11e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000229739
AA Change: T69S

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000229791
Predicted Effect probably benign
Transcript: ENSMUST00000231159
AA Change: T69S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231525
Coding Region Coverage
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl A G 2: 93,696,253 (GRCm39) V119A possibly damaging Het
Adamts12 T A 15: 11,311,331 (GRCm39) M1196K probably benign Het
Adgre1 T A 17: 57,718,024 (GRCm39) C345* probably null Het
Adrb2 T C 18: 62,312,078 (GRCm39) E249G probably benign Het
Amdhd1 T A 10: 93,360,291 (GRCm39) I423F probably benign Het
Ankhd1 A G 18: 36,727,867 (GRCm39) N501S probably damaging Het
Bltp2 T C 11: 78,179,858 (GRCm39) V2127A probably damaging Het
Cd180 T A 13: 102,841,821 (GRCm39) I289N probably damaging Het
Chst5 T A 8: 112,616,949 (GRCm39) I224F probably damaging Het
Cox6a2 A G 7: 127,805,103 (GRCm39) I60T possibly damaging Het
Dnajc6 C T 4: 101,471,483 (GRCm39) probably null Het
Dpp6 G A 5: 27,674,409 (GRCm39) E179K probably benign Het
Fasn G A 11: 120,704,562 (GRCm39) T1341I possibly damaging Het
Fat1 C T 8: 45,404,620 (GRCm39) T457I probably benign Het
Filip1l A T 16: 57,392,096 (GRCm39) probably null Het
Gje1 A T 10: 14,592,413 (GRCm39) I123N probably damaging Het
Gli3 A G 13: 15,894,874 (GRCm39) T683A probably damaging Het
Gm29326 C A 7: 29,260,833 (GRCm39) noncoding transcript Het
Gm5460 A G 14: 33,765,909 (GRCm39) probably benign Het
Hspa4 C T 11: 53,153,200 (GRCm39) S739N probably benign Het
Ighv1-42 T A 12: 114,900,885 (GRCm39) I67F probably damaging Het
Iqgap1 A G 7: 80,402,041 (GRCm39) V408A probably benign Het
Kdm7a A T 6: 39,147,198 (GRCm39) W250R probably damaging Het
Kif5a A G 10: 127,078,565 (GRCm39) I360T possibly damaging Het
Maml1 T C 11: 50,148,992 (GRCm39) N916S probably benign Het
Mier2 A T 10: 79,384,184 (GRCm39) probably benign Het
Nlk C A 11: 78,477,763 (GRCm39) V327F probably damaging Het
Nme5 A T 18: 34,711,730 (GRCm39) S4T probably benign Het
Notch2 A G 3: 98,045,711 (GRCm39) I1625M possibly damaging Het
Nup210l T C 3: 90,088,859 (GRCm39) probably null Het
Oas1d A G 5: 121,057,111 (GRCm39) E239G probably damaging Het
Olfm4 T C 14: 80,243,761 (GRCm39) S110P probably damaging Het
Or52e2 T C 7: 102,804,772 (GRCm39) M61V probably benign Het
Parn T A 16: 13,384,567 (GRCm39) I499F probably damaging Het
Ppargc1a G A 5: 51,653,068 (GRCm39) Q165* probably null Het
Ppp1r12b T A 1: 134,814,244 (GRCm39) E353V probably damaging Het
Prkdc A G 16: 15,603,842 (GRCm39) Q2952R possibly damaging Het
Prkdc G T 16: 15,603,843 (GRCm39) Q2952H probably benign Het
Qars1 G T 9: 108,392,185 (GRCm39) E143* probably null Het
Reln A G 5: 22,134,132 (GRCm39) Y2599H probably damaging Het
Rnf123 T C 9: 107,939,041 (GRCm39) E803G probably damaging Het
Rnf141 G A 7: 110,436,405 (GRCm39) Q8* probably null Het
Rnf167 A G 11: 70,540,952 (GRCm39) I193V probably benign Het
Rprd2 A T 3: 95,694,622 (GRCm39) M137K probably benign Het
Rtf1 T G 2: 119,559,226 (GRCm39) probably benign Het
Serpina1d T A 12: 103,731,055 (GRCm39) R308* probably null Het
Smg7 T C 1: 152,719,030 (GRCm39) Y899C probably benign Het
Tbr1 C A 2: 61,635,336 (GRCm39) H95Q possibly damaging Het
Tcf19 A T 17: 35,825,380 (GRCm39) probably null Het
Timm44 T A 8: 4,317,692 (GRCm39) R210W probably damaging Het
Trnau1ap C A 4: 132,041,331 (GRCm39) E194* probably null Het
Trp63 G A 16: 25,639,192 (GRCm39) G127S probably damaging Het
Trrap C T 5: 144,735,200 (GRCm39) A989V probably benign Het
Ttn T C 2: 76,600,326 (GRCm39) D18988G probably damaging Het
Tubb4b-ps1 T A 5: 7,229,952 (GRCm39) probably benign Het
Vmn1r77 G A 7: 11,775,223 (GRCm39) probably null Het
Vmn1r80 A G 7: 11,927,181 (GRCm39) Y97C probably benign Het
Vmn2r77 G A 7: 86,451,224 (GRCm39) C370Y probably damaging Het
Xntrpc C A 7: 101,733,492 (GRCm39) A147D probably damaging Het
Zc3h4 C T 7: 16,159,702 (GRCm39) S424F unknown Het
Zcwpw1 T A 5: 137,808,376 (GRCm39) S275T probably damaging Het
Zfp979 C T 4: 147,699,808 (GRCm39) C44Y probably damaging Het
Zscan20 T C 4: 128,479,587 (GRCm39) H968R probably damaging Het
Zswim3 T C 2: 164,662,297 (GRCm39) V259A probably damaging Het
Zzz3 T G 3: 152,133,696 (GRCm39) D251E possibly damaging Het
Other mutations in Mpst
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16