Incidental Mutation 'R3936:Sult2b1'
| ID |
307172 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sult2b1
|
| Ensembl Gene |
ENSMUSG00000003271 |
| Gene Name |
sulfotransferase family, cytosolic, 2B, member 1 |
| Synonyms |
SULT2B, Gm5897 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R3936 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
45379405-45409096 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45391640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 49
(V49M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075571]
[ENSMUST00000209739]
[ENSMUST00000210147]
[ENSMUST00000210754]
|
| AlphaFold |
O35400 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075571
|
| SMART Domains |
Protein: ENSMUSP00000075005
Gene: ENSMUSG00000003271
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
57 |
302 |
7.8e-84 |
PFAM |
|
low complexity region
|
309 |
337 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107735
AA Change: V49M
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000103363
Gene: ENSMUSG00000003271
AA Change: V49M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
91 |
336 |
5.2e-84 |
PFAM |
|
Pfam:Sulfotransfer_3
|
92 |
262 |
5.1e-11 |
PFAM |
|
low complexity region
|
343 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209435
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209739
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210147
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210754
AA Change: V49M
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211176
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene sulfates dehydroepiandrosterone but not 4-nitrophenol, a typical substrate for the phenol and estrogen sulfotransferase subfamilies. Two alternatively spliced variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele lack cholesterol sulfate in the dermis but otherwise appear to have normal lipid metabolism. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
C |
T |
12: 53,187,227 (GRCm39) |
T1547M |
possibly damaging |
Het |
| Alk |
T |
A |
17: 72,512,949 (GRCm39) |
I337F |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,715,819 (GRCm39) |
K491* |
probably null |
Het |
| Arx |
T |
A |
X: 92,340,975 (GRCm39) |
L554Q |
probably damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,159,209 (GRCm39) |
N203S |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,743,105 (GRCm39) |
V1622A |
possibly damaging |
Het |
| Btnl6 |
T |
A |
17: 34,736,316 (GRCm39) |
H4L |
probably benign |
Het |
| Dync2h1 |
C |
A |
9: 7,001,482 (GRCm39) |
L3835F |
probably damaging |
Het |
| Fcgbp |
T |
C |
7: 27,774,824 (GRCm39) |
F133L |
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,371,065 (GRCm39) |
|
probably null |
Het |
| G6pc1 |
A |
G |
11: 101,265,429 (GRCm39) |
I154V |
probably benign |
Het |
| Golgb1 |
G |
T |
16: 36,734,418 (GRCm39) |
E1222* |
probably null |
Het |
| Gpr85 |
A |
G |
6: 13,836,044 (GRCm39) |
F287L |
probably benign |
Het |
| Gzmk |
A |
T |
13: 113,309,559 (GRCm39) |
S164T |
probably damaging |
Het |
| Il22ra2 |
T |
A |
10: 19,507,456 (GRCm39) |
S156R |
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,234,369 (GRCm39) |
D712E |
possibly damaging |
Het |
| Mc3r |
T |
A |
2: 172,091,216 (GRCm39) |
I146N |
probably damaging |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mitf |
C |
T |
6: 97,970,214 (GRCm39) |
P54S |
probably damaging |
Het |
| Or13c7b |
T |
A |
4: 43,821,359 (GRCm39) |
M1L |
probably benign |
Het |
| P4hb |
A |
C |
11: 120,453,235 (GRCm39) |
H440Q |
probably benign |
Het |
| Pbsn |
T |
C |
X: 76,891,702 (GRCm39) |
T32A |
probably damaging |
Het |
| Rptn |
A |
C |
3: 93,302,883 (GRCm39) |
H72P |
possibly damaging |
Het |
| Scn1a |
T |
C |
2: 66,158,120 (GRCm39) |
I418V |
probably damaging |
Het |
| Sf3a1 |
T |
A |
11: 4,130,024 (GRCm39) |
|
probably null |
Het |
| Slc35f1 |
C |
T |
10: 52,984,314 (GRCm39) |
T358I |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,427,193 (GRCm39) |
|
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,701,943 (GRCm39) |
V608D |
probably damaging |
Het |
| Tlr11 |
A |
G |
14: 50,600,192 (GRCm39) |
E726G |
possibly damaging |
Het |
| Treh |
C |
T |
9: 44,595,840 (GRCm39) |
R342W |
probably benign |
Het |
|
| Other mutations in Sult2b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02415:Sult2b1
|
APN |
7 |
45,391,509 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02964:Sult2b1
|
APN |
7 |
45,384,698 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03208:Sult2b1
|
APN |
7 |
45,383,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0392:Sult2b1
|
UTSW |
7 |
45,383,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0415:Sult2b1
|
UTSW |
7 |
45,379,516 (GRCm39) |
unclassified |
probably benign |
|
|
R2247:Sult2b1
|
UTSW |
7 |
45,384,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3851:Sult2b1
|
UTSW |
7 |
45,379,461 (GRCm39) |
unclassified |
probably benign |
|
|
R3935:Sult2b1
|
UTSW |
7 |
45,391,640 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4179:Sult2b1
|
UTSW |
7 |
45,384,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4723:Sult2b1
|
UTSW |
7 |
45,391,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5634:Sult2b1
|
UTSW |
7 |
45,383,506 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5782:Sult2b1
|
UTSW |
7 |
45,380,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6562:Sult2b1
|
UTSW |
7 |
45,391,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6816:Sult2b1
|
UTSW |
7 |
45,383,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6921:Sult2b1
|
UTSW |
7 |
45,384,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7145:Sult2b1
|
UTSW |
7 |
45,383,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:Sult2b1
|
UTSW |
7 |
45,433,361 (GRCm39) |
missense |
unknown |
|
|
R7392:Sult2b1
|
UTSW |
7 |
45,391,862 (GRCm39) |
start gained |
probably benign |
|
|
R7398:Sult2b1
|
UTSW |
7 |
45,380,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7691:Sult2b1
|
UTSW |
7 |
45,384,708 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7712:Sult2b1
|
UTSW |
7 |
45,379,620 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8239:Sult2b1
|
UTSW |
7 |
45,433,361 (GRCm39) |
missense |
unknown |
|
|
R9159:Sult2b1
|
UTSW |
7 |
45,391,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTACCGGTACCTGATTTGGGG -3'
(R):5'- TCCTCCTACCAGAAGCGTAG -3'
Sequencing Primer
(F):5'- GTAGGTGACAATGAAGATGTCGTC -3'
(R):5'- TTTGGGCGAGTCACTCCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation