Incidental Mutation 'R0392:Sult2b1'
| ID |
31757 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sult2b1
|
| Ensembl Gene |
ENSMUSG00000003271 |
| Gene Name |
sulfotransferase family, cytosolic, 2B, member 1 |
| Synonyms |
SULT2B, Gm5897 |
| MMRRC Submission |
038598-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R0392 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45379405-45409096 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 45383062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 240
(T240N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075571]
[ENSMUST00000129507]
[ENSMUST00000209739]
[ENSMUST00000210147]
[ENSMUST00000210754]
|
| AlphaFold |
O35400 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075571
AA Change: T206N
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000075005
Gene: ENSMUSG00000003271
AA Change: T206N
| 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 damaging
Transcript: ENSMUST00000107735
AA Change: T240N
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103363
Gene: ENSMUSG00000003271
AA Change: T240N
| 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 |
probably benign
Transcript: ENSMUST00000129507
|
| SMART Domains |
Protein: ENSMUSP00000114397
Gene: ENSMUSG00000054161
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1669
|
18 |
293 |
4.8e-105 |
PFAM |
|
low complexity region
|
371 |
385 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209435
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209739
AA Change: T238N
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210147
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210754
AA Change: T240N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211124
|
| Meta Mutation Damage Score |
0.1345 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.6%
|
| Validation Efficiency |
100% (31/31) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930527J03Rik |
ACCC |
ACC |
1: 178,276,503 (GRCm38) |
|
noncoding transcript |
Het |
| Bcan |
T |
A |
3: 87,900,869 (GRCm39) |
K455* |
probably null |
Het |
| Casp12 |
T |
A |
9: 5,348,973 (GRCm39) |
|
probably benign |
Het |
| Ccdc61 |
T |
C |
7: 18,625,027 (GRCm39) |
M504V |
probably benign |
Het |
| Cd53 |
A |
T |
3: 106,670,592 (GRCm39) |
V147E |
probably damaging |
Het |
| Cyp2b13 |
T |
C |
7: 25,785,308 (GRCm39) |
Y226H |
probably benign |
Het |
| Cyp2j7 |
T |
C |
4: 96,087,671 (GRCm39) |
D413G |
probably damaging |
Het |
| Dcbld1 |
T |
C |
10: 52,193,230 (GRCm39) |
I254T |
possibly damaging |
Het |
| Ddx39a |
T |
G |
8: 84,448,366 (GRCm39) |
M206R |
probably damaging |
Het |
| Dgki |
T |
A |
6: 36,977,113 (GRCm39) |
T666S |
probably damaging |
Het |
| Dnaaf8 |
T |
C |
16: 4,795,363 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah7a |
C |
A |
1: 53,543,357 (GRCm39) |
C2271F |
probably damaging |
Het |
| Emilin3 |
A |
G |
2: 160,752,799 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
T |
C |
1: 77,483,610 (GRCm39) |
K133R |
probably benign |
Het |
| Gm11146 |
T |
A |
16: 77,394,054 (GRCm39) |
|
probably benign |
Het |
| Ift88 |
A |
T |
14: 57,733,617 (GRCm39) |
|
probably benign |
Het |
| Ighv10-3 |
A |
G |
12: 114,487,460 (GRCm39) |
|
probably benign |
Het |
| Lamp5 |
T |
C |
2: 135,902,817 (GRCm39) |
S179P |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,907,113 (GRCm39) |
S788P |
probably damaging |
Het |
| Or5m13 |
T |
A |
2: 85,749,106 (GRCm39) |
I279N |
possibly damaging |
Het |
| Otog |
T |
C |
7: 45,899,499 (GRCm39) |
W267R |
probably benign |
Het |
| Pafah1b2 |
T |
C |
9: 45,880,151 (GRCm39) |
I175M |
probably benign |
Het |
| Pcdhb12 |
A |
G |
18: 37,570,011 (GRCm39) |
K386E |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,220,660 (GRCm39) |
N2056S |
probably benign |
Het |
| Pold2 |
T |
C |
11: 5,826,776 (GRCm39) |
I53V |
possibly damaging |
Het |
| Rsf1 |
T |
A |
7: 97,328,212 (GRCm39) |
D1071E |
probably benign |
Het |
| Rtp3 |
A |
T |
9: 110,818,621 (GRCm39) |
M20K |
probably damaging |
Het |
| S1pr5 |
T |
A |
9: 21,156,277 (GRCm39) |
I50F |
probably damaging |
Het |
| Slc47a1 |
A |
G |
11: 61,262,608 (GRCm39) |
S94P |
probably damaging |
Het |
| Slitrk5 |
G |
A |
14: 111,916,465 (GRCm39) |
V30I |
probably benign |
Het |
| St8sia5 |
G |
A |
18: 77,342,102 (GRCm39) |
V271M |
probably damaging |
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 |
|
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 |
|
R3936: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'- TTTGCACTGGCTGTTCTGTCGCAGAC -3'
(R):5'- TGGGCAATTAAAGGACCCTGGTACACC -3'
Sequencing Primer
(F):5'- GACCCTATCTGATCTTGAGTGG -3'
(R):5'- GAGCAGAGATATGGTCCCTTC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation