Incidental Mutation 'R5282:Sult1b1'
ID |
402813 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sult1b1
|
Ensembl Gene |
ENSMUSG00000029269 |
Gene Name |
sulfotransferase family 1B, member 1 |
Synonyms |
Dopa/tyrosine sulfotransferase |
MMRRC Submission |
042867-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5282 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
87661198-87686054 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87678510 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 105
(I105V)
|
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: I105V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000031199 Gene: ENSMUSG00000029269 AA Change: I105V
Domain | Start | End | E-Value | Type |
Pfam:Sulfotransfer_1
|
38 |
289 |
7.5e-93 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117455
AA Change: I105V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000112679 Gene: ENSMUSG00000029269 AA Change: I105V
Domain | Start | End | E-Value | Type |
Pfam:Sulfotransfer_1
|
38 |
289 |
7.5e-93 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120150
AA Change: I105V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000112844 Gene: ENSMUSG00000029269 AA Change: I105V
Domain | Start | End | E-Value | Type |
Pfam:Sulfotransfer_1
|
38 |
289 |
7.5e-93 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
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. 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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700102P08Rik |
T |
A |
9: 108,270,439 (GRCm39) |
M1K |
probably null |
Het |
2810021J22Rik |
T |
C |
11: 58,771,166 (GRCm39) |
L216S |
possibly damaging |
Het |
4933405O20Rik |
G |
A |
7: 50,249,220 (GRCm39) |
E85K |
possibly damaging |
Het |
Agrn |
A |
G |
4: 156,257,492 (GRCm39) |
F1153L |
probably damaging |
Het |
Cbx8 |
A |
G |
11: 118,929,742 (GRCm39) |
S284P |
probably damaging |
Het |
Cep128 |
A |
G |
12: 91,305,893 (GRCm39) |
L170P |
probably damaging |
Het |
Cyp4f14 |
T |
A |
17: 33,126,959 (GRCm39) |
T324S |
probably damaging |
Het |
Daw1 |
G |
T |
1: 83,170,419 (GRCm39) |
V244L |
probably benign |
Het |
Eef2kmt |
A |
G |
16: 5,063,222 (GRCm39) |
V306A |
probably benign |
Het |
Enah |
A |
T |
1: 181,763,293 (GRCm39) |
|
probably null |
Het |
Fam171b |
T |
C |
2: 83,683,949 (GRCm39) |
|
probably null |
Het |
Fsip2 |
C |
T |
2: 82,808,925 (GRCm39) |
T1748I |
possibly damaging |
Het |
Gabrg2 |
C |
T |
11: 41,862,559 (GRCm39) |
G175D |
probably damaging |
Het |
Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
Hmcn1 |
G |
T |
1: 150,458,047 (GRCm39) |
N33K |
probably damaging |
Het |
Incenp |
T |
A |
19: 9,855,770 (GRCm39) |
E514V |
unknown |
Het |
Kank3 |
T |
C |
17: 34,036,917 (GRCm39) |
S74P |
probably benign |
Het |
Lrriq1 |
G |
T |
10: 103,051,206 (GRCm39) |
N515K |
probably benign |
Het |
Mfsd13b |
G |
A |
7: 120,591,056 (GRCm39) |
D266N |
probably damaging |
Het |
Neto1 |
T |
C |
18: 86,422,998 (GRCm39) |
Y152H |
probably damaging |
Het |
Nub1 |
C |
A |
5: 24,900,533 (GRCm39) |
F145L |
probably benign |
Het |
Nufip1 |
T |
C |
14: 76,351,715 (GRCm39) |
|
probably null |
Het |
Pard6g |
T |
A |
18: 80,123,116 (GRCm39) |
V50E |
probably benign |
Het |
Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
Rapgef5 |
A |
C |
12: 117,703,379 (GRCm39) |
N431T |
probably damaging |
Het |
Rassf9 |
A |
T |
10: 102,381,205 (GRCm39) |
T196S |
probably damaging |
Het |
Rrp12 |
T |
C |
19: 41,865,029 (GRCm39) |
Y764C |
probably benign |
Het |
Slfn8 |
T |
C |
11: 82,908,550 (GRCm39) |
|
probably null |
Het |
Smox |
T |
A |
2: 131,363,026 (GRCm39) |
V265D |
probably damaging |
Het |
Sycp2 |
T |
C |
2: 178,045,554 (GRCm39) |
D22G |
probably damaging |
Het |
Tbck |
G |
A |
3: 132,456,977 (GRCm39) |
M630I |
possibly damaging |
Het |
Tenm4 |
G |
C |
7: 96,486,538 (GRCm39) |
G965R |
possibly damaging |
Het |
Trappc10 |
G |
A |
10: 78,023,694 (GRCm39) |
T1258I |
probably damaging |
Het |
Tssk1 |
G |
A |
16: 17,713,123 (GRCm39) |
G303S |
probably benign |
Het |
Tstd2 |
T |
C |
4: 46,120,461 (GRCm39) |
Y313C |
probably damaging |
Het |
Usp42 |
G |
A |
5: 143,707,401 (GRCm39) |
T260M |
probably damaging |
Het |
Wdr43 |
T |
A |
17: 71,955,772 (GRCm39) |
V479E |
probably damaging |
Het |
Xpo7 |
G |
A |
14: 70,921,171 (GRCm39) |
T599I |
probably damaging |
Het |
Zfp553 |
A |
G |
7: 126,836,013 (GRCm39) |
K523E |
probably benign |
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 |
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 |
|
R6442:Sult1b1
|
UTSW |
5 |
87,682,912 (GRCm39) |
missense |
probably benign |
0.39 |
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'- AAGCACCTTCTAGTGTAGGTCAG -3'
(R):5'- GGCTTAGAGGACAATGAGATAACTC -3'
Sequencing Primer
(F):5'- GGTCAGTTCTCCGTATTACAAAGC -3'
(R):5'- TCCCACAAGAGTGCTGTGACAG -3'
|
Posted On |
2016-07-22 |