Incidental Mutation 'IGL02453:Sult2a5'
| ID |
293727 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sult2a5
|
| Ensembl Gene |
ENSMUSG00000078799 |
| Gene Name |
sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 5 |
| Synonyms |
Gm15438, EG434264 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
IGL02453
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
13357892-13404732 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13396432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 173
(M173K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104165
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108525]
|
| AlphaFold |
K7N6K9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108525
AA Change: M173K
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000104165
Gene: ENSMUSG00000078799
AA Change: M173K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
34 |
278 |
2e-82 |
PFAM |
|
Pfam:Sulfotransfer_3
|
35 |
205 |
3.3e-12 |
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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
T |
C |
16: 30,950,075 (GRCm39) |
|
probably null |
Het |
| Actr1b |
A |
G |
1: 36,741,588 (GRCm39) |
S51P |
probably damaging |
Het |
| Cdhr3 |
T |
C |
12: 33,092,502 (GRCm39) |
Y703C |
probably damaging |
Het |
| Col9a1 |
A |
T |
1: 24,218,438 (GRCm39) |
L54F |
unknown |
Het |
| Crim1 |
A |
G |
17: 78,651,913 (GRCm39) |
K546E |
probably damaging |
Het |
| Dap3 |
A |
G |
3: 88,835,634 (GRCm39) |
V240A |
probably benign |
Het |
| Dmtf1l |
G |
T |
X: 125,722,223 (GRCm39) |
S294* |
probably null |
Het |
| Dmtf1l |
T |
C |
X: 125,722,686 (GRCm39) |
I140V |
possibly damaging |
Het |
| Hadha |
T |
C |
5: 30,349,304 (GRCm39) |
|
probably benign |
Het |
| Imp3 |
G |
T |
9: 56,845,293 (GRCm39) |
R168L |
probably benign |
Het |
| Or1b1 |
A |
T |
2: 36,995,209 (GRCm39) |
V151E |
probably benign |
Het |
| Otop2 |
T |
A |
11: 115,215,455 (GRCm39) |
Y125* |
probably null |
Het |
| Pacs1 |
A |
G |
19: 5,185,033 (GRCm39) |
W931R |
probably damaging |
Het |
| Rasgrf1 |
A |
T |
9: 89,826,813 (GRCm39) |
M141L |
possibly damaging |
Het |
| Ryr3 |
C |
A |
2: 112,512,073 (GRCm39) |
|
probably benign |
Het |
| Strbp |
A |
T |
2: 37,476,520 (GRCm39) |
|
probably null |
Het |
| Tmem63a |
G |
A |
1: 180,790,634 (GRCm39) |
V431M |
probably benign |
Het |
| Vmn2r114 |
T |
A |
17: 23,530,108 (GRCm39) |
T100S |
probably benign |
Het |
| Wdr45 |
T |
C |
X: 7,593,520 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Sult2a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01757:Sult2a5
|
APN |
7 |
13,399,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02352:Sult2a5
|
APN |
7 |
13,362,727 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02359:Sult2a5
|
APN |
7 |
13,362,727 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03062:Sult2a5
|
APN |
7 |
13,358,107 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0285:Sult2a5
|
UTSW |
7 |
13,362,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0918:Sult2a5
|
UTSW |
7 |
13,359,334 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1869:Sult2a5
|
UTSW |
7 |
13,358,045 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1917:Sult2a5
|
UTSW |
7 |
13,404,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2117:Sult2a5
|
UTSW |
7 |
13,359,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4867:Sult2a5
|
UTSW |
7 |
13,357,976 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4890:Sult2a5
|
UTSW |
7 |
13,359,311 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4901:Sult2a5
|
UTSW |
7 |
13,359,188 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5236:Sult2a5
|
UTSW |
7 |
13,398,974 (GRCm39) |
missense |
probably benign |
|
|
R6355:Sult2a5
|
UTSW |
7 |
13,396,462 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6692:Sult2a5
|
UTSW |
7 |
13,358,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6735:Sult2a5
|
UTSW |
7 |
13,398,983 (GRCm39) |
nonsense |
probably null |
|
|
R6873:Sult2a5
|
UTSW |
7 |
13,359,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7616:Sult2a5
|
UTSW |
7 |
13,404,607 (GRCm39) |
missense |
probably benign |
|
|
R7828:Sult2a5
|
UTSW |
7 |
13,362,768 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9502:Sult2a5
|
UTSW |
7 |
13,359,243 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0024:Sult2a5
|
UTSW |
7 |
13,399,141 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation