Incidental Mutation 'IGL00557:Sult2a4'
| ID |
5328 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sult2a4
|
| Ensembl Gene |
ENSMUSG00000074377 |
| Gene Name |
sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 4 |
| Synonyms |
Gm5584 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL00557
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
13643602-13723516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13718870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 124
(D124E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108520]
[ENSMUST00000165167]
|
| AlphaFold |
L7N245 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108520
AA Change: D125E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104160
Gene: ENSMUSG00000074377
AA Change: D125E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_3
|
5 |
205 |
1.5e-10 |
PFAM |
|
Pfam:Sulfotransfer_1
|
34 |
278 |
1.2e-82 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165167
AA Change: D124E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130490
Gene: ENSMUSG00000074377
AA Change: D124E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
33 |
277 |
1.3e-82 |
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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agpat3 |
A |
T |
10: 78,109,516 (GRCm39) |
|
probably benign |
Het |
| Arhgap35 |
T |
C |
7: 16,298,340 (GRCm39) |
T242A |
probably benign |
Het |
| Asb15 |
C |
A |
6: 24,558,649 (GRCm39) |
R55S |
probably benign |
Het |
| Brca2 |
C |
T |
5: 150,484,003 (GRCm39) |
R2941W |
probably benign |
Het |
| Chrng |
T |
C |
1: 87,134,469 (GRCm39) |
V135A |
probably damaging |
Het |
| Corin |
G |
T |
5: 72,462,231 (GRCm39) |
H859Q |
probably damaging |
Het |
| Cul7 |
A |
G |
17: 46,963,434 (GRCm39) |
E208G |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,172,603 (GRCm39) |
N285S |
possibly damaging |
Het |
| Ell2 |
T |
A |
13: 75,904,409 (GRCm39) |
I166N |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,821,657 (GRCm39) |
R5797G |
possibly damaging |
Het |
| Galntl6 |
T |
C |
8: 59,364,451 (GRCm39) |
I20V |
possibly damaging |
Het |
| Glra2 |
A |
G |
X: 164,072,633 (GRCm39) |
F78L |
possibly damaging |
Het |
| Gm12258 |
A |
G |
11: 58,746,896 (GRCm39) |
D51G |
probably benign |
Het |
| Gsta2 |
T |
A |
9: 78,238,525 (GRCm39) |
K185* |
probably null |
Het |
| Hmgcr |
C |
T |
13: 96,795,786 (GRCm39) |
D294N |
probably benign |
Het |
| Iglv2 |
A |
G |
16: 19,079,547 (GRCm39) |
|
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,776,466 (GRCm39) |
L63H |
probably damaging |
Het |
| P2ry10b |
T |
C |
X: 106,215,243 (GRCm39) |
V201A |
probably benign |
Het |
| Psmb2 |
A |
G |
4: 126,571,642 (GRCm39) |
|
probably null |
Het |
| Samd4 |
T |
A |
14: 47,290,355 (GRCm39) |
L154H |
probably damaging |
Het |
| Trav9-1 |
A |
T |
14: 53,725,815 (GRCm39) |
Y43F |
probably damaging |
Het |
| Trpv2 |
A |
G |
11: 62,483,681 (GRCm39) |
N506S |
probably damaging |
Het |
| Ube3c |
T |
C |
5: 29,824,227 (GRCm39) |
S474P |
probably damaging |
Het |
| Wdr87-ps |
A |
G |
7: 29,235,227 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp942 |
A |
T |
17: 22,148,042 (GRCm39) |
C196S |
probably benign |
Het |
|
| Other mutations in Sult2a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00835:Sult2a4
|
APN |
7 |
13,643,714 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02078:Sult2a4
|
APN |
7 |
13,723,469 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02409:Sult2a4
|
APN |
7 |
13,718,844 (GRCm39) |
nonsense |
probably null |
|
|
IGL02970:Sult2a4
|
APN |
7 |
13,643,831 (GRCm39) |
splice site |
probably benign |
|
|
IGL03201:Sult2a4
|
APN |
7 |
13,665,692 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0827:Sult2a4
|
UTSW |
7 |
13,718,886 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1484:Sult2a4
|
UTSW |
7 |
13,643,726 (GRCm39) |
missense |
probably benign |
|
|
R1523:Sult2a4
|
UTSW |
7 |
13,643,785 (GRCm39) |
nonsense |
probably null |
|
|
R1613:Sult2a4
|
UTSW |
7 |
13,723,420 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2127:Sult2a4
|
UTSW |
7 |
13,649,185 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2372:Sult2a4
|
UTSW |
7 |
13,649,225 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3161:Sult2a4
|
UTSW |
7 |
13,723,396 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5181:Sult2a4
|
UTSW |
7 |
13,722,316 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7124:Sult2a4
|
UTSW |
7 |
13,722,320 (GRCm39) |
nonsense |
probably null |
|
|
R7983:Sult2a4
|
UTSW |
7 |
13,649,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8214:Sult2a4
|
UTSW |
7 |
13,723,401 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9508:Sult2a4
|
UTSW |
7 |
13,723,437 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0028:Sult2a4
|
UTSW |
7 |
13,722,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation