Incidental Mutation 'IGL02078:Sult2a4'
ID |
186027 |
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 # |
IGL02078
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
13643602-13723516 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 13723469 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 15
(I15M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130490
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108520]
[ENSMUST00000165167]
|
AlphaFold |
L7N245 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000108520
AA Change: I16M
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000104160 Gene: ENSMUSG00000074377 AA Change: I16M
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 benign
Transcript: ENSMUST00000165167
AA Change: I15M
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000130490 Gene: ENSMUSG00000074377 AA Change: I15M
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
T |
C |
15: 59,888,179 (GRCm39) |
D87G |
probably benign |
Het |
Acap1 |
C |
T |
11: 69,786,112 (GRCm39) |
R18Q |
probably damaging |
Het |
Atp1a1 |
A |
C |
3: 101,499,179 (GRCm39) |
V140G |
probably damaging |
Het |
Bmpr1b |
G |
A |
3: 141,576,498 (GRCm39) |
P112S |
possibly damaging |
Het |
Chst8 |
T |
A |
7: 34,374,759 (GRCm39) |
N360I |
possibly damaging |
Het |
Cldn23 |
A |
T |
8: 36,293,359 (GRCm39) |
V43E |
possibly damaging |
Het |
Clta |
T |
C |
4: 44,030,232 (GRCm39) |
F168S |
probably damaging |
Het |
Cyp2c40 |
T |
C |
19: 39,755,926 (GRCm39) |
I463V |
probably benign |
Het |
E2f2 |
A |
G |
4: 135,920,323 (GRCm39) |
D436G |
probably damaging |
Het |
Fbxo24 |
T |
G |
5: 137,622,611 (GRCm39) |
T52P |
probably damaging |
Het |
Gria4 |
G |
A |
9: 4,793,878 (GRCm39) |
A60V |
probably damaging |
Het |
Grm1 |
C |
T |
10: 10,565,354 (GRCm39) |
V985M |
probably benign |
Het |
Hexa |
A |
G |
9: 59,464,586 (GRCm39) |
T159A |
probably benign |
Het |
Inf2 |
T |
A |
12: 112,568,048 (GRCm39) |
V200E |
probably damaging |
Het |
Kif20b |
T |
A |
19: 34,913,044 (GRCm39) |
V319E |
probably damaging |
Het |
Klhl10 |
A |
G |
11: 100,336,577 (GRCm39) |
D188G |
probably benign |
Het |
Mobp |
G |
A |
9: 119,996,980 (GRCm39) |
R37H |
probably damaging |
Het |
Mybpc2 |
T |
A |
7: 44,153,204 (GRCm39) |
D1086V |
probably damaging |
Het |
Nadk |
A |
C |
4: 155,663,860 (GRCm39) |
|
probably benign |
Het |
Or7g33 |
T |
A |
9: 19,448,749 (GRCm39) |
H159L |
probably benign |
Het |
Per1 |
A |
G |
11: 68,995,125 (GRCm39) |
E619G |
probably damaging |
Het |
Rab3gap1 |
G |
A |
1: 127,796,652 (GRCm39) |
|
probably benign |
Het |
Rimkla |
A |
G |
4: 119,325,344 (GRCm39) |
L355P |
probably damaging |
Het |
Rnf139 |
A |
G |
15: 58,771,880 (GRCm39) |
D635G |
possibly damaging |
Het |
Sall1 |
T |
A |
8: 89,757,003 (GRCm39) |
N1034Y |
probably damaging |
Het |
Serpinb13 |
A |
T |
1: 106,926,688 (GRCm39) |
Q228L |
probably damaging |
Het |
Sin3b |
G |
T |
8: 73,480,208 (GRCm39) |
M903I |
possibly damaging |
Het |
Slco1a5 |
A |
T |
6: 142,200,172 (GRCm39) |
M204K |
probably benign |
Het |
Smo |
A |
G |
6: 29,754,707 (GRCm39) |
D259G |
possibly damaging |
Het |
Spata31g1 |
A |
C |
4: 42,972,685 (GRCm39) |
K673Q |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,772,785 (GRCm39) |
|
probably null |
Het |
Wdtc1 |
C |
A |
4: 133,033,271 (GRCm39) |
D176Y |
probably damaging |
Het |
|
Other mutations in Sult2a4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00557:Sult2a4
|
APN |
7 |
13,718,870 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00835:Sult2a4
|
APN |
7 |
13,643,714 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
2014-05-07 |