Incidental Mutation 'R5456:Tst'
| ID |
432769 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tst
|
| Ensembl Gene |
ENSMUSG00000044986 |
| Gene Name |
thiosulfate sulfurtransferase, mitochondrial |
| Synonyms |
Rhodanese |
| MMRRC Submission |
043019-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5456 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
78283756-78290065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78284158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 223
(E223G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055743
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058659]
[ENSMUST00000074380]
[ENSMUST00000165170]
[ENSMUST00000229878]
|
| AlphaFold |
P52196 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058659
AA Change: E223G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055743
Gene: ENSMUSG00000044986
AA Change: E223G
| 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: ENSMUST00000074380
|
| SMART Domains |
Protein: ENSMUSP00000073984
Gene: ENSMUSG00000062154
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
71 |
N/A |
INTRINSIC |
|
Pfam:TEX33
|
128 |
266 |
4.2e-73 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165170
|
| SMART Domains |
Protein: ENSMUSP00000133264
Gene: ENSMUSG00000062154
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
71 |
N/A |
INTRINSIC |
|
Pfam:TEX33
|
128 |
265 |
1.7e-73 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229479
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229878
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231525
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
A |
G |
13: 91,889,759 (GRCm39) |
D37G |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 35,118,892 (GRCm39) |
F1081S |
probably damaging |
Het |
| Apmap |
T |
A |
2: 150,431,989 (GRCm39) |
I128L |
probably benign |
Het |
| Arhgap12 |
G |
A |
18: 6,112,170 (GRCm39) |
Q65* |
probably null |
Het |
| Baat |
C |
T |
4: 49,502,949 (GRCm39) |
V58I |
possibly damaging |
Het |
| Bco2 |
T |
C |
9: 50,456,644 (GRCm39) |
|
probably null |
Het |
| Bend3 |
T |
C |
10: 43,386,542 (GRCm39) |
Y312H |
probably damaging |
Het |
| Btnl2 |
A |
T |
17: 34,582,295 (GRCm39) |
Y287F |
probably benign |
Het |
| Cd22 |
T |
C |
7: 30,575,464 (GRCm39) |
I193V |
probably benign |
Het |
| Commd3 |
A |
G |
2: 18,678,968 (GRCm39) |
E95G |
probably damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,190,486 (GRCm39) |
D215G |
probably damaging |
Het |
| Elfn1 |
A |
G |
5: 139,958,571 (GRCm39) |
Y525C |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,399,877 (GRCm39) |
T409A |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,293,776 (GRCm39) |
I301F |
probably benign |
Het |
| Hemgn |
C |
T |
4: 46,396,571 (GRCm39) |
V222M |
probably damaging |
Het |
| Igsf3 |
C |
T |
3: 101,334,537 (GRCm39) |
H205Y |
probably benign |
Het |
| Mfsd1 |
T |
C |
3: 67,497,166 (GRCm39) |
I147T |
probably benign |
Het |
| Mslnl |
A |
G |
17: 25,962,133 (GRCm39) |
D177G |
probably damaging |
Het |
| Nat2 |
G |
A |
8: 67,954,225 (GRCm39) |
V112I |
probably damaging |
Het |
| Or4c10b |
G |
A |
2: 89,711,602 (GRCm39) |
G144E |
probably damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pabpc1l |
T |
C |
2: 163,869,580 (GRCm39) |
S127P |
probably damaging |
Het |
| Poln |
A |
T |
5: 34,164,786 (GRCm39) |
L845Q |
possibly damaging |
Het |
| Ppm1f |
T |
A |
16: 16,741,610 (GRCm39) |
D361E |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,692,381 (GRCm39) |
|
probably null |
Het |
| Rarb |
G |
A |
14: 16,436,843 (GRCm38) |
T226I |
probably damaging |
Het |
| Sel1l3 |
T |
C |
5: 53,357,378 (GRCm39) |
K205E |
probably benign |
Het |
| Sh3glb1 |
T |
A |
3: 144,415,114 (GRCm39) |
I75L |
probably benign |
Het |
| Srgap1 |
G |
A |
10: 121,705,716 (GRCm39) |
S236L |
probably benign |
Het |
| Tmco3 |
A |
G |
8: 13,369,815 (GRCm39) |
Y609C |
probably damaging |
Het |
| Trhde |
A |
G |
10: 114,322,665 (GRCm39) |
V712A |
possibly damaging |
Het |
| Trim13 |
A |
G |
14: 61,842,523 (GRCm39) |
D180G |
possibly damaging |
Het |
| Umodl1 |
A |
G |
17: 31,201,263 (GRCm39) |
I397M |
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,269,500 (GRCm39) |
D481G |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,834,729 (GRCm39) |
M1686K |
possibly damaging |
Het |
| Wdr83 |
T |
C |
8: 85,806,837 (GRCm39) |
H81R |
probably benign |
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 |
|
R2518:Tst
|
UTSW |
15 |
78,290,033 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
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'- CTGAAGGGAACTGGCTGGATTG -3'
(R):5'- TTGACGATAAGCAGAGCCAGC -3'
Sequencing Primer
(F):5'- AGGAGGCTGCACACACTCAG -3'
(R):5'- CCAGCAAGAAATTGAGTTGCC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation