Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02360:Mpst'

290466

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 #

IGL02360

Quality Score

Status

Chromosome

Chromosomal Location

78290918-78298213 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78294285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 6 (L6F)

Ref Sequence

ENSEMBL: ENSMUSP00000155399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043865] [ENSMUST00000058659] [ENSMUST00000167140] [ENSMUST00000169133] [ENSMUST00000229739] [ENSMUST00000229791] [ENSMUST00000231159]

AlphaFold

Q99J99

Predicted Effect

probably damaging
Transcript: ENSMUST00000043865
AA Change: L6F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043061
Gene: ENSMUSG00000071711
AA Change: L6F

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 damaging
Transcript: ENSMUST00000167140
AA Change: L6F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130493
Gene: ENSMUSG00000071711
AA Change: L6F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000169133
AA Change: L6F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128075
Gene: ENSMUSG00000071711
AA Change: L6F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000229739
AA Change: L6F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229791
AA Change: L6F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231159
AA Change: L6F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh18a1	A	T	19: 40,566,364 (GRCm39)	V102D	probably damaging	Het
Car4	C	T	11: 84,856,593 (GRCm39)	P294S	probably damaging	Het
Casp6	C	T	3: 129,704,175 (GRCm39)	S87L	probably damaging	Het
Ccdc121rt1	T	C	1: 181,338,190 (GRCm39)	E254G	possibly damaging	Het
Ccnl1	A	C	3: 65,856,141 (GRCm39)	C255G	probably damaging	Het
Celf4	T	C	18: 25,619,955 (GRCm39)	I485M	probably damaging	Het
Cntln	A	G	4: 84,968,087 (GRCm39)	R769G	probably damaging	Het
Cyp2d12	T	C	15: 82,443,171 (GRCm39)	V360A	probably benign	Het
Dgki	T	C	6: 36,824,324 (GRCm39)	E1068G	probably damaging	Het
Fbxl4	A	G	4: 22,433,684 (GRCm39)	N607S	probably benign	Het
Fgd4	T	C	16: 16,279,909 (GRCm39)	I383V	probably damaging	Het
Fgd6	C	T	10: 93,974,258 (GRCm39)	T1333I	possibly damaging	Het
Got1	A	G	19: 43,512,882 (GRCm39)	S5P	probably damaging	Het
Herc2	T	A	7: 55,764,560 (GRCm39)	N995K	probably damaging	Het
Kcnma1	A	G	14: 23,641,681 (GRCm39)	F159S	probably damaging	Het
Krt87	T	C	15: 101,383,339 (GRCm39)	S456G	probably benign	Het
Lhb	T	C	7: 45,070,718 (GRCm39)	V32A	possibly damaging	Het
Mau2	A	T	8: 70,472,288 (GRCm39)	V602E	probably damaging	Het
Nlrp2	G	A	7: 5,340,598 (GRCm39)	T72I	probably damaging	Het
Or8g20	A	G	9: 39,396,444 (GRCm39)	I32T	probably benign	Het
Phldb2	T	C	16: 45,569,142 (GRCm39)	Y1239C	probably damaging	Het
Slc22a8	T	C	19: 8,585,619 (GRCm39)	F328S	possibly damaging	Het
Sult2a3	G	A	7: 13,855,575 (GRCm39)	R94*	probably null	Het
Syt16	A	G	12: 74,176,245 (GRCm39)	N38S	probably damaging	Het
Tbc1d1	G	A	5: 64,414,179 (GRCm39)	R180Q	probably damaging	Het
Ush2a	T	C	1: 188,460,635 (GRCm39)	I2632T	probably benign	Het
Vcam1	T	A	3: 115,909,543 (GRCm39)	I595F	possibly 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
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