Incidental Mutation 'IGL01826:Sult4a1'
ID |
154665 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sult4a1
|
Ensembl Gene |
ENSMUSG00000018865 |
Gene Name |
sulfotransferase family 4A, member 1 |
Synonyms |
BR-STL-1, Sultx3, 2400007A17Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01826
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
83960298-83989955 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 83974247 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 141
(S141T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155695
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082365]
[ENSMUST00000229826]
|
AlphaFold |
P63046 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000082365
AA Change: S141T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000080973 Gene: ENSMUSG00000018865 AA Change: S141T
Domain | Start | End | E-Value | Type |
Pfam:Sulfotransfer_1
|
45 |
277 |
1.1e-60 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229826
AA Change: S141T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sulfotransferase family. The encoded protein is a brain-specific sulfotransferase believed to be involved in the metabolism of neurotransmitters. Polymorphisms in this gene may be associated with susceptibility to schizophrenia. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
T |
A |
7: 45,774,273 (GRCm39) |
D769V |
probably benign |
Het |
Afm |
T |
A |
5: 90,672,787 (GRCm39) |
|
probably benign |
Het |
Ago3 |
A |
G |
4: 126,297,075 (GRCm39) |
S181P |
probably damaging |
Het |
Brme1 |
T |
C |
8: 84,893,301 (GRCm39) |
V156A |
probably benign |
Het |
Ccm2l |
C |
A |
2: 152,909,853 (GRCm39) |
|
probably benign |
Het |
Clhc1 |
A |
G |
11: 29,503,765 (GRCm39) |
|
probably null |
Het |
Ear6 |
A |
G |
14: 52,091,722 (GRCm39) |
I90V |
probably benign |
Het |
Fsip2 |
T |
G |
2: 82,812,983 (GRCm39) |
S3101A |
probably benign |
Het |
Gpsm1 |
C |
A |
2: 26,216,314 (GRCm39) |
H384N |
probably damaging |
Het |
Itgal |
A |
G |
7: 126,901,318 (GRCm39) |
I235V |
probably benign |
Het |
Lrp1b |
C |
A |
2: 41,339,246 (GRCm39) |
G752C |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,599,835 (GRCm39) |
D659G |
possibly damaging |
Het |
Odad1 |
T |
A |
7: 45,597,810 (GRCm39) |
S573R |
possibly damaging |
Het |
Plb1 |
A |
C |
5: 32,438,489 (GRCm39) |
D208A |
probably damaging |
Het |
Plce1 |
T |
A |
19: 38,727,682 (GRCm39) |
|
probably benign |
Het |
Stim1 |
A |
G |
7: 102,076,282 (GRCm39) |
|
probably benign |
Het |
Tas2r119 |
A |
T |
15: 32,177,548 (GRCm39) |
K38M |
probably damaging |
Het |
Usp34 |
G |
A |
11: 23,386,020 (GRCm39) |
R2149H |
probably damaging |
Het |
Zfp451 |
G |
A |
1: 33,821,243 (GRCm39) |
T203M |
probably damaging |
Het |
|
Other mutations in Sult4a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01322:Sult4a1
|
APN |
15 |
83,970,817 (GRCm39) |
missense |
possibly damaging |
0.93 |
mum
|
UTSW |
15 |
83,974,159 (GRCm39) |
critical splice donor site |
probably null |
|
R0305:Sult4a1
|
UTSW |
15 |
83,970,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R1416:Sult4a1
|
UTSW |
15 |
83,970,847 (GRCm39) |
missense |
probably benign |
0.15 |
R1664:Sult4a1
|
UTSW |
15 |
83,970,818 (GRCm39) |
missense |
probably benign |
0.04 |
R4630:Sult4a1
|
UTSW |
15 |
83,989,779 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5524:Sult4a1
|
UTSW |
15 |
83,974,159 (GRCm39) |
critical splice donor site |
probably null |
|
R6105:Sult4a1
|
UTSW |
15 |
83,970,821 (GRCm39) |
nonsense |
probably null |
|
R7313:Sult4a1
|
UTSW |
15 |
83,970,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-02-04 |