Mutagenetix > Incidental Mutation

Incidental Mutation 'R2518:Tst'

254123

Institutional Source

Beutler Lab

Gene Symbol

Tst

Ensembl Gene

ENSMUSG00000044986

Gene Name

thiosulfate sulfurtransferase, mitochondrial

Synonyms

Rhodanese

MMRRC Submission

040422-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2518 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78283756-78290065 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 78290033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000055743 (fasta)

Gene Model

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

AlphaFold

P52196

Predicted Effect

probably benign
Transcript: ENSMUST00000043865

SMART Domains

Protein: ENSMUSP00000043061
Gene: ENSMUSG00000071711

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

Predicted Effect

probably null
Transcript: ENSMUST00000058659
AA Change: M1V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055743
Gene: ENSMUSG00000044986
AA Change: M1V

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

SMART Domains

Protein: ENSMUSP00000130493
Gene: ENSMUSG00000071711

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

SMART Domains

Protein: ENSMUSP00000128075
Gene: ENSMUSG00000071711

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229791

Predicted Effect

probably benign
Transcript: ENSMUST00000231159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231525

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This is one of two neighboring genes encoding similar proteins that each contain two rhodanese domains. The encoded protein is localized to the mitochondria and catalyzes the conversion of thiosulfate and cyanide to thiocyanate and sulfite. In addition, the protein interacts with 5S ribosomal RNA and facilitates its import into the mitochondria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	G	8: 25,127,157 (GRCm39)	C480R	probably damaging	Het
Aftph	G	T	11: 20,675,797 (GRCm39)	T604K	probably damaging	Het
Bivm	T	C	1: 44,168,775 (GRCm39)	V279A	probably damaging	Het
C2cd2	G	A	16: 97,723,286 (GRCm39)	T77I	probably benign	Het
Ccdc146	T	C	5: 21,510,526 (GRCm39)	H527R	probably benign	Het
Cd226	A	G	18: 89,225,451 (GRCm39)	N116S	probably benign	Het
Cit	A	G	5: 116,125,105 (GRCm39)	K1612E	probably damaging	Het
Cmtr1	T	A	17: 29,900,954 (GRCm39)	Y663*	probably null	Het
Col3a1	T	A	1: 45,376,672 (GRCm39)		probably benign	Het
Copa	A	G	1: 171,947,468 (GRCm39)	N1095D	probably benign	Het
Cpne1	G	T	2: 155,915,891 (GRCm39)	A433E	probably damaging	Het
Cyfip1	C	T	7: 55,578,032 (GRCm39)	L1181F	probably damaging	Het
Dnajc6	T	A	4: 101,470,127 (GRCm39)	I220N	probably damaging	Het
Duxbl1	G	C	14: 25,988,172 (GRCm39)		probably benign	Het
Fam135b	C	T	15: 71,335,760 (GRCm39)	R478H	probably benign	Het
Fam91a1	T	A	15: 58,322,449 (GRCm39)	S734T	possibly damaging	Het
Fut10	T	G	8: 31,726,495 (GRCm39)	S417A	probably benign	Het
Gm9945	C	T	11: 53,371,163 (GRCm39)		probably benign	Het
Golga4	A	G	9: 118,385,680 (GRCm39)	E934G	probably damaging	Het
Gpat2	G	A	2: 127,270,211 (GRCm39)	V75M	probably damaging	Het
Hdac5	A	G	11: 102,087,962 (GRCm39)	V949A	probably damaging	Het
Hdgfl1	G	T	13: 26,953,732 (GRCm39)	L114I	probably benign	Het
Ifi27l2b	T	A	12: 103,422,083 (GRCm39)	M94L	unknown	Het
Irs2	C	A	8: 11,055,352 (GRCm39)	A1027S	probably benign	Het
Itga2	A	T	13: 115,017,578 (GRCm39)	C111S	probably damaging	Het
Khdrbs1	T	C	4: 129,614,540 (GRCm39)	T338A	probably benign	Het
Klk1	T	C	7: 43,870,161 (GRCm39)		probably null	Het
Kmt2b	T	C	7: 30,275,493 (GRCm39)	N1822S	probably benign	Het
Lrig3	T	C	10: 125,830,310 (GRCm39)	I136T	probably benign	Het
Lyar	T	A	5: 38,385,276 (GRCm39)	D105E	probably benign	Het
Mat1a	T	A	14: 40,844,469 (GRCm39)	D366E	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Neb	T	A	2: 52,139,523 (GRCm39)	K95*	probably null	Het
Nectin4	A	G	1: 171,207,776 (GRCm39)	D56G	probably benign	Het
Nup58	A	T	14: 60,470,109 (GRCm39)	F334Y	probably damaging	Het
Or14a256	A	T	7: 86,265,395 (GRCm39)	F153I	probably benign	Het
Or9i1	A	G	19: 13,839,673 (GRCm39)	N172S	probably damaging	Het
Pde8a	C	A	7: 80,967,170 (GRCm39)	T437K	probably benign	Het
Ppp1r3a	A	T	6: 14,719,377 (GRCm39)	N512K	possibly damaging	Het
Pramel12	A	G	4: 143,144,473 (GRCm39)	Q273R	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,068 (GRCm39)	D330G	probably damaging	Het
Ren1	G	A	1: 133,287,862 (GRCm39)	A399T	probably damaging	Het
Rnft2	G	T	5: 118,332,670 (GRCm39)		probably benign	Het
Septin14	A	T	5: 129,776,099 (GRCm39)	S27T	probably benign	Het
Shld1	T	A	2: 132,592,447 (GRCm39)	S165T	probably damaging	Het
Shox2	T	C	3: 66,885,692 (GRCm39)	K128E	possibly damaging	Het
Skint1	T	C	4: 111,882,678 (GRCm39)	W241R	probably benign	Het
Slc24a4	T	A	12: 102,188,310 (GRCm39)	H134Q	probably benign	Het
Slc25a36	A	T	9: 96,961,124 (GRCm39)	L165Q	possibly damaging	Het
Slc35f1	A	G	10: 52,949,630 (GRCm39)	I240V	probably benign	Het
Slc66a1	A	G	4: 139,029,810 (GRCm39)	F74L	probably damaging	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tarbp2	A	G	15: 102,426,992 (GRCm39)	E3G	possibly damaging	Het
Tas2r130	A	T	6: 131,607,036 (GRCm39)	I253K	probably damaging	Het
Timm44	A	C	8: 4,316,588 (GRCm39)	C319G	probably null	Het
Tjap1	A	T	17: 46,571,021 (GRCm39)	N165K	probably damaging	Het
Tmem63b	A	G	17: 45,977,080 (GRCm39)	I429T	probably benign	Het
Trabd2b	A	T	4: 114,457,100 (GRCm39)	D339V	probably damaging	Het
Ube4a	A	T	9: 44,859,435 (GRCm39)	N335K	probably benign	Het
Vps54	C	T	11: 21,256,394 (GRCm39)	T633M	probably benign	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp953	A	G	13: 67,496,003 (GRCm39)	Y13H	probably damaging	Het

Other mutations in Tst

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Tst	APN	15	78,289,661 (GRCm39)	missense	probably damaging	1.00
IGL01457:Tst	APN	15	78,283,967 (GRCm39)	missense	probably benign	0.01
IGL01622:Tst	APN	15	78,283,964 (GRCm39)	missense	probably benign	0.06
IGL01623:Tst	APN	15	78,283,964 (GRCm39)	missense	probably benign	0.06
IGL03277:Tst	APN	15	78,289,521 (GRCm39)	missense	probably damaging	1.00
R0456:Tst	UTSW	15	78,289,780 (GRCm39)	missense	probably damaging	1.00
R1522:Tst	UTSW	15	78,284,143 (GRCm39)	missense	possibly damaging	0.67
R5456:Tst	UTSW	15	78,284,158 (GRCm39)	missense	probably damaging	1.00
R7623:Tst	UTSW	15	78,289,903 (GRCm39)	missense	probably damaging	1.00
R7765:Tst	UTSW	15	78,289,816 (GRCm39)	missense	possibly damaging	0.61
R8296:Tst	UTSW	15	78,284,020 (GRCm39)	missense	probably damaging	1.00
R8520:Tst	UTSW	15	78,289,453 (GRCm39)	missense	probably damaging	1.00
R9669:Tst	UTSW	15	78,289,853 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- ATCTCATAAGGCGAAGTCGTG -3'
(R):5'- AGGGAATGTGCCAACCTCTC -3'

Sequencing Primer
(F):5'- TTCCTCTATATCAAAGAAGGACGCG -3'
(R):5'- TCCCACTGTGAGTCTGGC -3'

Posted On

2014-12-04