Incidental Mutation 'IGL00583:Sult2a3'
| ID |
332705 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sult2a3
|
| Ensembl Gene |
ENSMUSG00000074375 |
| Gene Name |
sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 3 |
| Synonyms |
Gm6955 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00583
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
13801480-13856973 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13856905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 5
(Y5F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096407
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098809]
|
| AlphaFold |
D3Z1W5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098809
AA Change: Y5F
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000096407
Gene: ENSMUSG00000074375
AA Change: Y5F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
34 |
278 |
1.5e-83 |
PFAM |
|
Pfam:Sulfotransfer_3
|
35 |
205 |
3.4e-11 |
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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
C |
T |
13: 104,433,726 (GRCm39) |
Q52* |
probably null |
Het |
| Ambp |
G |
T |
4: 63,072,255 (GRCm39) |
A13D |
possibly damaging |
Het |
| Angptl3 |
A |
G |
4: 98,923,077 (GRCm39) |
T283A |
probably damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,094,205 (GRCm39) |
|
probably benign |
Het |
| Borcs8 |
A |
G |
8: 70,597,757 (GRCm39) |
H93R |
probably benign |
Het |
| Bzw1 |
T |
C |
1: 58,440,494 (GRCm39) |
|
probably benign |
Het |
| Cd200 |
A |
C |
16: 45,217,472 (GRCm39) |
I73R |
probably damaging |
Het |
| Coq8a |
T |
C |
1: 179,995,954 (GRCm39) |
D528G |
probably benign |
Het |
| Edem1 |
T |
A |
6: 108,832,520 (GRCm39) |
|
probably benign |
Het |
| Enpp5 |
C |
T |
17: 44,396,088 (GRCm39) |
|
probably benign |
Het |
| Eprs1 |
G |
T |
1: 185,139,345 (GRCm39) |
C910F |
probably benign |
Het |
| Erich6 |
T |
C |
3: 58,544,464 (GRCm39) |
E41G |
unknown |
Het |
| Gls2 |
A |
G |
10: 128,040,751 (GRCm39) |
M340V |
probably benign |
Het |
| Gna12 |
A |
T |
5: 140,746,773 (GRCm39) |
V224E |
probably damaging |
Het |
| Golph3l |
T |
C |
3: 95,496,414 (GRCm39) |
L46P |
possibly damaging |
Het |
| Limch1 |
T |
C |
5: 67,111,022 (GRCm39) |
I83T |
probably damaging |
Het |
| Mas1 |
T |
C |
17: 13,060,852 (GRCm39) |
I190M |
possibly damaging |
Het |
| Mefv |
T |
A |
16: 3,533,936 (GRCm39) |
K112* |
probably null |
Het |
| Oas1e |
T |
A |
5: 120,932,337 (GRCm39) |
E102V |
probably damaging |
Het |
| Pde6a |
T |
C |
18: 61,390,339 (GRCm39) |
C521R |
probably damaging |
Het |
| Pigw |
A |
G |
11: 84,768,714 (GRCm39) |
V205A |
possibly damaging |
Het |
| Ptpn21 |
G |
A |
12: 98,699,860 (GRCm39) |
S18F |
probably damaging |
Het |
| Shprh |
C |
T |
10: 11,063,764 (GRCm39) |
T1279I |
probably benign |
Het |
| Slc11a2 |
T |
C |
15: 100,295,618 (GRCm39) |
E501G |
probably benign |
Het |
| Tll1 |
A |
G |
8: 64,658,326 (GRCm39) |
L31P |
probably benign |
Het |
| Tubgcp3 |
G |
A |
8: 12,671,906 (GRCm39) |
Q779* |
probably null |
Het |
| U2surp |
T |
A |
9: 95,343,577 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sult2a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02353:Sult2a3
|
APN |
7 |
13,855,575 (GRCm39) |
nonsense |
probably null |
|
|
IGL02360:Sult2a3
|
APN |
7 |
13,855,575 (GRCm39) |
nonsense |
probably null |
|
|
IGL02806:Sult2a3
|
APN |
7 |
13,856,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03252:Sult2a3
|
APN |
7 |
13,801,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0029:Sult2a3
|
UTSW |
7 |
13,806,999 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1480:Sult2a3
|
UTSW |
7 |
13,856,836 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1491:Sult2a3
|
UTSW |
7 |
13,856,867 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4078:Sult2a3
|
UTSW |
7 |
13,855,662 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4668:Sult2a3
|
UTSW |
7 |
13,856,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Sult2a3
|
UTSW |
7 |
13,845,482 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6311:Sult2a3
|
UTSW |
7 |
13,845,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6749:Sult2a3
|
UTSW |
7 |
13,816,629 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7030:Sult2a3
|
UTSW |
7 |
13,801,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7232:Sult2a3
|
UTSW |
7 |
13,816,685 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7394:Sult2a3
|
UTSW |
7 |
13,845,449 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7617:Sult2a3
|
UTSW |
7 |
13,806,981 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8029:Sult2a3
|
UTSW |
7 |
13,855,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8097:Sult2a3
|
UTSW |
7 |
13,816,635 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9154:Sult2a3
|
UTSW |
7 |
13,806,981 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-08-05 |
Incidental Mutation