Incidental Mutation 'IGL02566:Sult1d1'
| ID |
298832 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sult1d1
|
| Ensembl Gene |
ENSMUSG00000029273 |
| Gene Name |
sulfotransferase family 1D, member 1 |
| Synonyms |
5033411P13Rik, tyrosine-ester sulfotransferase, Sultn |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
IGL02566
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
87702509-87716865 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87712670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 58
(L58Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108940
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113314]
|
| AlphaFold |
Q3UZZ6 |
| PDB Structure |
Crystal structure of mouse sulfotransferase SULT1D1 complex with PAP [X-RAY DIFFRACTION]
Crystal structure of mouse cytosolic sulfotransferase mSULT1D1 complex with PAP and p-nitrophenol [X-RAY DIFFRACTION]
Crystal structure of mouse cytosolic sulfotransferase mSULT1D1 complex with PAP and alpha-naphthol [X-RAY DIFFRACTION]
Crystal structure of mouse cytosolic sulfotransferase mSULT1D1 complex with PAPS [X-RAY DIFFRACTION]
Crystal structure of mouse cytosolic sulfotransferase mSULT1D1 complex with PAPS and p-nitrophenyl sulfate [X-RAY DIFFRACTION]
Crystal structure of mouse cytosolic sulfotransferase mSULT1D1 complex with PAPS/PAP and p-nitrophenol [X-RAY DIFFRACTION]
crystal structure of mouse cytosolic sulfotransferase mSULT1D1 complex with PAP and p-nitrophenol, obtained by two-step soaking method [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113314
AA Change: L58Q
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108940
Gene: ENSMUSG00000029273
AA Change: L58Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
38 |
288 |
6e-95 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166996
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased benzylic DNA adduct formation in the liver and kidney but increased formation in the colon. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl4d |
A |
G |
11: 101,557,980 (GRCm39) |
S169G |
probably damaging |
Het |
| Bbx |
A |
T |
16: 50,043,603 (GRCm39) |
|
probably benign |
Het |
| Blm |
A |
T |
7: 80,123,944 (GRCm39) |
M959K |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cyb5d1 |
T |
C |
11: 69,284,594 (GRCm39) |
N186S |
probably benign |
Het |
| Elk3 |
A |
G |
10: 93,101,325 (GRCm39) |
L142P |
probably damaging |
Het |
| Gk5 |
G |
A |
9: 96,011,099 (GRCm39) |
D70N |
possibly damaging |
Het |
| Gpr84 |
T |
C |
15: 103,217,150 (GRCm39) |
D309G |
probably benign |
Het |
| Greb1l |
T |
C |
18: 10,503,299 (GRCm39) |
V450A |
probably damaging |
Het |
| Gucy1b1 |
A |
G |
3: 81,965,636 (GRCm39) |
F70S |
probably damaging |
Het |
| Jmjd4 |
T |
A |
11: 59,345,880 (GRCm39) |
M320K |
probably damaging |
Het |
| Map10 |
A |
G |
8: 126,398,494 (GRCm39) |
N629S |
probably benign |
Het |
| Nmd3 |
G |
T |
3: 69,647,247 (GRCm39) |
|
probably benign |
Het |
| Obscn |
G |
T |
11: 58,958,973 (GRCm39) |
T3359K |
probably damaging |
Het |
| Or2t1 |
C |
A |
14: 14,328,138 (GRCm38) |
T9K |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,389,450 (GRCm39) |
|
probably null |
Het |
| Plcb1 |
T |
C |
2: 135,314,183 (GRCm39) |
F1212L |
probably benign |
Het |
| Rabep1 |
A |
G |
11: 70,808,540 (GRCm39) |
S459G |
probably damaging |
Het |
| Septin4 |
T |
G |
11: 87,458,468 (GRCm39) |
S281A |
probably benign |
Het |
| Slc26a1 |
A |
G |
5: 108,821,665 (GRCm39) |
S75P |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tnrc18 |
A |
T |
5: 142,758,068 (GRCm39) |
|
probably benign |
Het |
| Vps35l |
C |
T |
7: 118,352,055 (GRCm39) |
A154V |
probably benign |
Het |
| Zfp442 |
T |
C |
2: 150,251,711 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Sult1d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02306:Sult1d1
|
APN |
5 |
87,703,914 (GRCm39) |
splice site |
probably benign |
|
|
IGL03080:Sult1d1
|
APN |
5 |
87,704,847 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03113:Sult1d1
|
APN |
5 |
87,707,738 (GRCm39) |
nonsense |
probably null |
|
|
R0269:Sult1d1
|
UTSW |
5 |
87,712,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1473:Sult1d1
|
UTSW |
5 |
87,712,598 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2105:Sult1d1
|
UTSW |
5 |
87,707,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2273:Sult1d1
|
UTSW |
5 |
87,703,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2919:Sult1d1
|
UTSW |
5 |
87,707,614 (GRCm39) |
splice site |
probably benign |
|
|
R4416:Sult1d1
|
UTSW |
5 |
87,706,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4648:Sult1d1
|
UTSW |
5 |
87,713,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5031:Sult1d1
|
UTSW |
5 |
87,707,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5108:Sult1d1
|
UTSW |
5 |
87,711,728 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5905:Sult1d1
|
UTSW |
5 |
87,707,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5934:Sult1d1
|
UTSW |
5 |
87,707,629 (GRCm39) |
frame shift |
probably null |
|
|
R6028:Sult1d1
|
UTSW |
5 |
87,707,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8786:Sult1d1
|
UTSW |
5 |
87,712,575 (GRCm39) |
missense |
probably benign |
|
|
R9398:Sult1d1
|
UTSW |
5 |
87,713,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9519:Sult1d1
|
UTSW |
5 |
87,704,721 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9795:Sult1d1
|
UTSW |
5 |
87,712,655 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-04-16 |
Incidental Mutation