Incidental Mutation 'R6442:Sult1b1'
| ID |
519054 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sult1b1
|
| Ensembl Gene |
ENSMUSG00000029269 |
| Gene Name |
sulfotransferase family 1B, member 1 |
| Synonyms |
Dopa/tyrosine sulfotransferase |
| MMRRC Submission |
044580-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6442 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
87661198-87686054 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87682912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 11
(D11G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031199]
[ENSMUST00000117455]
[ENSMUST00000120150]
|
| AlphaFold |
Q9QWG7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031199
AA Change: D11G
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000031199
Gene: ENSMUSG00000029269
AA Change: D11G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
38 |
289 |
7.5e-93 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117455
AA Change: D11G
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112679
Gene: ENSMUSG00000029269
AA Change: D11G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
38 |
289 |
7.5e-93 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120150
AA Change: D11G
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112844
Gene: ENSMUSG00000029269
AA Change: D11G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
38 |
289 |
7.5e-93 |
PFAM |
|
| Meta Mutation Damage Score |
0.2274 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
100% (36/36) |
| 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. However, the total genomic length of this gene is greater than that of other SULT1 genes. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9a |
T |
C |
2: 168,491,481 (GRCm39) |
T695A |
probably benign |
Het |
| Btla |
A |
G |
16: 45,044,821 (GRCm39) |
N36D |
probably benign |
Het |
| Btla |
T |
C |
16: 45,070,713 (GRCm39) |
V224A |
possibly damaging |
Het |
| Cep126 |
T |
C |
9: 8,100,564 (GRCm39) |
N657D |
probably benign |
Het |
| Cops3 |
T |
A |
11: 59,718,780 (GRCm39) |
K171N |
probably benign |
Het |
| Crocc2 |
A |
G |
1: 93,112,775 (GRCm39) |
R193G |
probably benign |
Het |
| Dis3l |
T |
C |
9: 64,214,837 (GRCm39) |
I911V |
probably benign |
Het |
| Dpp6 |
G |
A |
5: 27,923,507 (GRCm39) |
|
probably null |
Het |
| Efcab5 |
A |
T |
11: 76,996,260 (GRCm39) |
Y1100* |
probably null |
Het |
| Fcgbpl1 |
C |
T |
7: 27,843,611 (GRCm39) |
T833I |
possibly damaging |
Het |
| Galnt10 |
A |
G |
11: 57,656,448 (GRCm39) |
T211A |
probably benign |
Het |
| Gdf9 |
A |
G |
11: 53,324,515 (GRCm39) |
T95A |
probably benign |
Het |
| Gm826 |
T |
A |
2: 160,169,328 (GRCm39) |
|
probably benign |
Het |
| Hsd17b6 |
C |
T |
10: 127,829,636 (GRCm39) |
|
probably null |
Het |
| Hyal4 |
A |
G |
6: 24,765,849 (GRCm39) |
N401S |
probably benign |
Het |
| Itga8 |
C |
T |
2: 12,234,954 (GRCm39) |
V435I |
probably benign |
Het |
| Nr1h5 |
G |
A |
3: 102,848,427 (GRCm39) |
P418L |
probably damaging |
Het |
| Or3a4 |
G |
A |
11: 73,945,505 (GRCm39) |
R27W |
probably benign |
Het |
| Or4f15 |
G |
A |
2: 111,813,874 (GRCm39) |
P182S |
probably damaging |
Het |
| Or4n4 |
T |
G |
14: 50,518,826 (GRCm39) |
K295Q |
probably damaging |
Het |
| Or6c214 |
C |
A |
10: 129,591,277 (GRCm39) |
G14V |
probably damaging |
Het |
| Or9i14 |
T |
C |
19: 13,792,992 (GRCm39) |
|
probably benign |
Het |
| Prdm11 |
G |
A |
2: 92,805,990 (GRCm39) |
A320V |
probably benign |
Het |
| Ptpn5 |
T |
C |
7: 46,732,831 (GRCm39) |
|
probably null |
Het |
| Reln |
T |
A |
5: 22,137,774 (GRCm39) |
I2473L |
probably benign |
Het |
| Rmnd5a |
A |
T |
6: 71,371,659 (GRCm39) |
C180* |
probably null |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sapcd2 |
T |
A |
2: 25,266,134 (GRCm39) |
|
probably benign |
Het |
| Sec24b |
A |
G |
3: 129,790,350 (GRCm39) |
L462S |
probably damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,686,555 (GRCm39) |
Y425F |
possibly damaging |
Het |
| Tgs1 |
T |
A |
4: 3,604,760 (GRCm39) |
Y727* |
probably null |
Het |
| Tmem80 |
T |
C |
7: 140,915,839 (GRCm39) |
V83A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,551,978 (GRCm39) |
T31220A |
probably benign |
Het |
| Usp46 |
A |
T |
5: 74,177,377 (GRCm39) |
D167E |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,805,046 (GRCm39) |
D22V |
possibly damaging |
Het |
| Zswim5 |
C |
A |
4: 116,808,202 (GRCm39) |
P262Q |
probably damaging |
Het |
|
| Other mutations in Sult1b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01296:Sult1b1
|
APN |
5 |
87,662,815 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02214:Sult1b1
|
APN |
5 |
87,682,949 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0377:Sult1b1
|
UTSW |
5 |
87,665,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0835:Sult1b1
|
UTSW |
5 |
87,665,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1850:Sult1b1
|
UTSW |
5 |
87,668,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2059:Sult1b1
|
UTSW |
5 |
87,682,892 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4792:Sult1b1
|
UTSW |
5 |
87,662,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4904:Sult1b1
|
UTSW |
5 |
87,682,912 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5127:Sult1b1
|
UTSW |
5 |
87,669,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5282:Sult1b1
|
UTSW |
5 |
87,678,510 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5981:Sult1b1
|
UTSW |
5 |
87,682,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6270:Sult1b1
|
UTSW |
5 |
87,665,413 (GRCm39) |
splice site |
probably null |
|
|
R7681:Sult1b1
|
UTSW |
5 |
87,678,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8236:Sult1b1
|
UTSW |
5 |
87,669,383 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8539:Sult1b1
|
UTSW |
5 |
87,681,838 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8923:Sult1b1
|
UTSW |
5 |
87,662,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8978:Sult1b1
|
UTSW |
5 |
87,682,900 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9141:Sult1b1
|
UTSW |
5 |
87,665,280 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9426:Sult1b1
|
UTSW |
5 |
87,665,280 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9776:Sult1b1
|
UTSW |
5 |
87,662,815 (GRCm39) |
missense |
probably benign |
0.28 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTGTGGCCACTCACACAC -3'
(R):5'- ACCCACAAGTTACCCTTCGTG -3'
Sequencing Primer
(F):5'- GTTCCCCACATATAAACAGCTATAC -3'
(R):5'- GTTTCCGTGTGTACTGTGATAAAGCC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation