Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03037:Mpst'

408714

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 #

IGL03037

Quality Score

Status

Chromosome

Chromosomal Location

78290918-78298213 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 78294798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 177 (R177S)

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: R177S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000043061
Gene: ENSMUSG00000071711
AA Change: R177S

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
RHOD	11	140	2.88e-18	SMART
RHOD	163	285	1.48e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167140
AA Change: R177S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000130493
Gene: ENSMUSG00000071711
AA Change: R177S

Domain	Start	End	E-Value	Type
RHOD	11	141	1.36e-19	SMART
RHOD	164	285	1.11e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169133
AA Change: R177S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000128075
Gene: ENSMUSG00000071711
AA Change: R177S

Domain	Start	End	E-Value	Type
RHOD	11	141	1.36e-19	SMART
RHOD	164	285	1.11e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229739
AA Change: R177S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000229791

Predicted Effect

probably benign
Transcript: ENSMUST00000231159

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,807,294 (GRCm39)	L539P	probably damaging	Het
Adam23	A	T	1: 63,610,176 (GRCm39)	Q726L	possibly damaging	Het
Ago1	T	C	4: 126,355,587 (GRCm39)	E74G	probably benign	Het
Atp6v1d	C	A	12: 78,904,122 (GRCm39)		probably benign	Het
Bltp1	C	A	3: 37,023,356 (GRCm39)	S2227R	probably benign	Het
Bltp1	T	C	3: 37,023,357 (GRCm39)	S2229P	probably damaging	Het
Cadm4	T	A	7: 24,200,220 (GRCm39)	L243Q	probably damaging	Het
Camsap2	C	A	1: 136,202,595 (GRCm39)	L1274F	probably damaging	Het
Car10	A	G	11: 92,991,044 (GRCm39)		probably benign	Het
Catsperd	A	T	17: 56,948,583 (GRCm39)	D186V	possibly damaging	Het
Cdc42bpg	A	G	19: 6,361,230 (GRCm39)	Y285C	probably damaging	Het
Cenpi	T	A	X: 133,250,017 (GRCm39)	C599S	possibly damaging	Het
Cln8	A	T	8: 14,944,679 (GRCm39)		probably benign	Het
Cnksr1	T	C	4: 133,962,417 (GRCm39)		probably null	Het
Cripto	C	A	9: 110,772,288 (GRCm39)	W36L	probably benign	Het
Ddx5	T	C	11: 106,672,930 (GRCm39)	N532D	possibly damaging	Het
Dock11	G	T	X: 35,310,699 (GRCm39)		probably benign	Het
Dock8	A	G	19: 25,063,545 (GRCm39)	E249G	probably benign	Het
Espnl	T	C	1: 91,269,643 (GRCm39)	V393A	probably benign	Het
Fhip1b	A	T	7: 105,028,293 (GRCm39)	H885Q	probably benign	Het
Frrs1	T	C	3: 116,696,116 (GRCm39)		probably benign	Het
Fstl4	C	A	11: 53,059,050 (GRCm39)	A503D	possibly damaging	Het
Gda	T	A	19: 21,411,673 (GRCm39)	I42L	possibly damaging	Het
Gprc5d	C	A	6: 135,093,319 (GRCm39)	C196F	probably damaging	Het
Hnrnpa0	A	G	13: 58,275,767 (GRCm39)	F121L	probably damaging	Het
Hsd3b7	C	T	7: 127,400,322 (GRCm39)	H24Y	probably damaging	Het
Ift140	T	C	17: 25,311,368 (GRCm39)	S1188P	probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mcemp1	C	A	8: 3,717,055 (GRCm39)	Y65*	probably null	Het
Mmp16	C	T	4: 17,996,222 (GRCm39)	P104S	probably damaging	Het
Nek1	A	T	8: 61,487,086 (GRCm39)	T279S	probably benign	Het
Or1q1	C	T	2: 36,887,560 (GRCm39)	T246I	probably benign	Het
Or1x2	A	T	11: 50,918,117 (GRCm39)	Y96F	probably damaging	Het
Or4c11b	A	G	2: 88,625,299 (GRCm39)	Y191C	probably damaging	Het
Or7g18	T	A	9: 18,786,668 (GRCm39)	I12N	probably damaging	Het
Pard3	A	T	8: 128,032,975 (GRCm39)	T190S	probably benign	Het
Pik3r4	A	G	9: 105,528,012 (GRCm39)	D455G	probably damaging	Het
Piwil4	T	C	9: 14,616,308 (GRCm39)	I756V	possibly damaging	Het
Pkhd1	A	G	1: 20,592,923 (GRCm39)	L1730P	probably benign	Het
Pnpla3	T	C	15: 84,056,960 (GRCm39)	I155T	probably damaging	Het
Prmt8	T	C	6: 127,680,940 (GRCm39)	Y243C	possibly damaging	Het
Rbfox1	T	A	16: 7,110,147 (GRCm39)		probably benign	Het
Rps6ka2	G	A	17: 7,521,849 (GRCm39)		probably null	Het
Scaf8	A	G	17: 3,240,496 (GRCm39)	K623E	probably damaging	Het
Slc26a4	A	T	12: 31,581,686 (GRCm39)		probably benign	Het
Slfn8	T	A	11: 82,894,078 (GRCm39)	I854F	probably damaging	Het
Smarca4	T	C	9: 21,544,231 (GRCm39)		probably benign	Het
Sos1	T	C	17: 80,727,758 (GRCm39)	D775G	probably damaging	Het
Spag17	G	A	3: 99,979,486 (GRCm39)		probably null	Het
Spata31d1d	T	A	13: 59,873,947 (GRCm39)	E1196V	possibly damaging	Het
Sqle	T	A	15: 59,193,246 (GRCm39)	Y208N	probably damaging	Het
Tcl1b5	C	T	12: 105,145,273 (GRCm39)	T79M	probably benign	Het
Tenm3	A	G	8: 48,751,913 (GRCm39)	F959L	possibly damaging	Het
Tnfrsf19	T	A	14: 61,261,721 (GRCm39)	K26I	possibly damaging	Het
Trappc10	A	T	10: 78,034,869 (GRCm39)		probably benign	Het
Trim80	T	C	11: 115,332,419 (GRCm39)	W204R	possibly damaging	Het
Trpm3	A	G	19: 22,866,776 (GRCm39)	T536A	possibly damaging	Het
Ttbk1	G	A	17: 46,757,256 (GRCm39)	T1126I	probably benign	Het
Uaca	A	G	9: 60,748,147 (GRCm39)	D37G	probably damaging	Het
Ube3a	T	C	7: 58,896,971 (GRCm39)		probably benign	Het
Ubqln2	C	T	X: 152,282,692 (GRCm39)	Q415*	probably null	Het
Ugp2	T	A	11: 21,282,540 (GRCm39)	K151*	probably null	Het
Wasf1	A	G	10: 40,806,654 (GRCm39)	K99R	probably benign	Het
Wnt4	C	T	4: 137,016,472 (GRCm39)	T42M	possibly damaging	Het
Zfp54	T	A	17: 21,650,477 (GRCm39)	D17E	probably damaging	Het

Other mutations in Mpst

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2016-08-02