Incidental Mutation 'IGL01757:Sult2a5'
| ID |
153208 |
| 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 # |
IGL01757
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
13357892-13404732 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13399079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 229
(S229P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104165
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108525]
|
| AlphaFold |
K7N6K9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108525
AA Change: S229P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104165
Gene: ENSMUSG00000078799
AA Change: S229P
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,639,705 (GRCm39) |
|
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,773,140 (GRCm39) |
Y1789C |
probably damaging |
Het |
| Cdcp1 |
A |
T |
9: 123,009,066 (GRCm39) |
Y537* |
probably null |
Het |
| Chic2 |
T |
C |
5: 75,167,428 (GRCm39) |
|
probably benign |
Het |
| Cpa5 |
G |
A |
6: 30,625,926 (GRCm39) |
|
probably benign |
Het |
| Csgalnact2 |
T |
C |
6: 118,106,307 (GRCm39) |
R4G |
probably damaging |
Het |
| Dnah10 |
T |
A |
5: 124,845,991 (GRCm39) |
V1510D |
probably benign |
Het |
| Dnm2 |
T |
A |
9: 21,376,915 (GRCm39) |
F91L |
probably damaging |
Het |
| Eif2b1 |
T |
C |
5: 124,711,203 (GRCm39) |
K189E |
probably benign |
Het |
| Fgf17 |
A |
T |
14: 70,874,420 (GRCm39) |
L123Q |
probably damaging |
Het |
| Ifna15 |
T |
C |
4: 88,476,322 (GRCm39) |
K54R |
possibly damaging |
Het |
| Isg15 |
A |
G |
4: 156,284,301 (GRCm39) |
C76R |
probably damaging |
Het |
| Ldb2 |
A |
T |
5: 44,699,209 (GRCm39) |
|
probably benign |
Het |
| Lig4 |
A |
G |
8: 10,021,185 (GRCm39) |
I865T |
probably benign |
Het |
| Lrrc46 |
T |
C |
11: 96,926,701 (GRCm39) |
Y154C |
probably damaging |
Het |
| Lrrc8a |
G |
A |
2: 30,145,537 (GRCm39) |
R117H |
possibly damaging |
Het |
| Mrpl2 |
A |
G |
17: 46,959,183 (GRCm39) |
I96V |
probably damaging |
Het |
| Mtif2 |
G |
A |
11: 29,491,337 (GRCm39) |
|
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Ptpn23 |
G |
A |
9: 110,220,704 (GRCm39) |
R269W |
probably damaging |
Het |
| Senp2 |
T |
C |
16: 21,828,414 (GRCm39) |
V8A |
probably benign |
Het |
| Slf1 |
T |
C |
13: 77,232,559 (GRCm39) |
D515G |
probably benign |
Het |
| Spc25 |
G |
A |
2: 69,032,952 (GRCm39) |
Q58* |
probably null |
Het |
| Tfap2d |
A |
G |
1: 19,174,804 (GRCm39) |
T86A |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,041,785 (GRCm39) |
V1257A |
probably damaging |
Het |
| Wdr6 |
A |
G |
9: 108,453,427 (GRCm39) |
V152A |
possibly damaging |
Het |
| Zdhhc7 |
A |
G |
8: 120,814,662 (GRCm39) |
V49A |
probably benign |
Het |
| Zfp648 |
T |
C |
1: 154,080,671 (GRCm39) |
S277P |
probably damaging |
Het |
|
| Other mutations in Sult2a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02453:Sult2a5
|
APN |
7 |
13,396,432 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
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 |
2014-02-04 |
Incidental Mutation