Incidental Mutation 'IGL00541:Sult2a2'
ID |
5329 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sult2a2
|
Ensembl Gene |
ENSMUSG00000070811 |
Gene Name |
sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 2 |
Synonyms |
mSTa2, Sth2, C730007P19Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
IGL00541
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
13467431-13513562 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 13468684 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 50
(L50P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083317
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086148]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086148
AA Change: L50P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000083317 Gene: ENSMUSG00000070811 AA Change: L50P
Domain | Start | End | E-Value | Type |
Pfam:Sulfotransfer_1
|
34 |
162 |
2.3e-37 |
PFAM |
Pfam:Sulfotransfer_1
|
157 |
187 |
1.3e-8 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This is one of seven sulfotransferase family 2A genes in a chromosome 7 A1 cluster. [provided by RefSeq, May 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 12 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bmp2k |
G |
A |
5: 97,211,407 (GRCm39) |
|
probably null |
Het |
Col6a3 |
T |
C |
1: 90,729,864 (GRCm39) |
H1207R |
possibly damaging |
Het |
Efl1 |
T |
C |
7: 82,307,319 (GRCm39) |
S72P |
probably damaging |
Het |
Fbxw9 |
A |
T |
8: 85,793,219 (GRCm39) |
I435F |
probably damaging |
Het |
Gm9837 |
G |
A |
11: 53,361,079 (GRCm39) |
|
probably benign |
Het |
Lama2 |
C |
A |
10: 27,064,302 (GRCm39) |
L1226F |
probably benign |
Het |
Nbea |
G |
A |
3: 55,875,510 (GRCm39) |
P1720L |
probably benign |
Het |
Pira12 |
T |
A |
7: 3,900,385 (GRCm39) |
|
probably benign |
Het |
Slco1a6 |
G |
T |
6: 142,042,025 (GRCm39) |
T517K |
possibly damaging |
Het |
Syt9 |
A |
T |
7: 107,101,387 (GRCm39) |
N378Y |
probably null |
Het |
Tchh |
A |
G |
3: 93,353,557 (GRCm39) |
E999G |
unknown |
Het |
Usp9x |
A |
G |
X: 13,007,985 (GRCm39) |
T1425A |
probably benign |
Het |
|
Other mutations in Sult2a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01504:Sult2a2
|
APN |
7 |
13,472,189 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01833:Sult2a2
|
APN |
7 |
13,468,721 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03162:Sult2a2
|
APN |
7 |
13,468,822 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03408:Sult2a2
|
APN |
7 |
13,472,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R0941:Sult2a2
|
UTSW |
7 |
13,468,815 (GRCm39) |
nonsense |
probably null |
|
R1109:Sult2a2
|
UTSW |
7 |
13,468,798 (GRCm39) |
missense |
probably benign |
0.01 |
R1376:Sult2a2
|
UTSW |
7 |
13,468,696 (GRCm39) |
missense |
probably damaging |
0.99 |
R1376:Sult2a2
|
UTSW |
7 |
13,468,696 (GRCm39) |
missense |
probably damaging |
0.99 |
R4114:Sult2a2
|
UTSW |
7 |
13,468,708 (GRCm39) |
missense |
probably benign |
0.00 |
R4116:Sult2a2
|
UTSW |
7 |
13,468,708 (GRCm39) |
missense |
probably benign |
0.00 |
R4940:Sult2a2
|
UTSW |
7 |
13,472,223 (GRCm39) |
missense |
probably benign |
0.03 |
R5023:Sult2a2
|
UTSW |
7 |
13,468,785 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5510:Sult2a2
|
UTSW |
7 |
13,472,228 (GRCm39) |
missense |
probably damaging |
0.99 |
R7424:Sult2a2
|
UTSW |
7 |
13,468,822 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7569:Sult2a2
|
UTSW |
7 |
13,513,430 (GRCm39) |
missense |
probably benign |
|
R7800:Sult2a2
|
UTSW |
7 |
13,468,710 (GRCm39) |
missense |
probably benign |
0.30 |
R8842:Sult2a2
|
UTSW |
7 |
13,472,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R8948:Sult2a2
|
UTSW |
7 |
13,467,484 (GRCm39) |
start codon destroyed |
probably damaging |
0.96 |
R8950:Sult2a2
|
UTSW |
7 |
13,467,484 (GRCm39) |
start codon destroyed |
probably damaging |
0.96 |
|
Posted On |
2012-04-20 |