Incidental Mutation 'IGL01938:Sult1c2'
| ID |
180740 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sult1c2
|
| Ensembl Gene |
ENSMUSG00000023122 |
| Gene Name |
sulfotransferase family, cytosolic, 1C, member 2 |
| Synonyms |
1810008N17Rik, ST1C1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL01938
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
54136665-54152986 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 54138954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 208
(V208M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023886
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023886]
|
| AlphaFold |
Q9D939 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023886
AA Change: V208M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023886
Gene: ENSMUSG00000023122
AA Change: V208M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
39 |
289 |
4.8e-96 |
PFAM |
|
| Coding Region Coverage |
|
| 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 encodes a protein that belongs to the SULT1 subfamily, responsible for transferring a sulfo moiety from PAPS to phenol-containing compounds. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [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 |
|---|
| 2310003L06Rik |
C |
T |
5: 88,119,567 (GRCm39) |
T108I |
probably damaging |
Het |
| Adam34 |
A |
G |
8: 44,104,053 (GRCm39) |
Y531H |
probably damaging |
Het |
| Arhgef10 |
T |
A |
8: 15,041,062 (GRCm39) |
N1077K |
probably benign |
Het |
| BC034090 |
G |
T |
1: 155,108,338 (GRCm39) |
|
probably null |
Het |
| Cachd1 |
A |
G |
4: 100,831,325 (GRCm39) |
I706V |
possibly damaging |
Het |
| Cebpz |
A |
T |
17: 79,242,390 (GRCm39) |
C421* |
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,705,614 (GRCm39) |
V699A |
probably benign |
Het |
| Col5a1 |
A |
G |
2: 27,886,885 (GRCm39) |
N935S |
unknown |
Het |
| Dnah1 |
C |
T |
14: 31,005,844 (GRCm39) |
V2312I |
probably benign |
Het |
| Ebf3 |
T |
C |
7: 136,911,047 (GRCm39) |
T156A |
probably damaging |
Het |
| Ern1 |
A |
G |
11: 106,302,483 (GRCm39) |
V457A |
probably benign |
Het |
| Flii |
T |
C |
11: 60,605,942 (GRCm39) |
Y1177C |
probably damaging |
Het |
| Fryl |
T |
A |
5: 73,279,707 (GRCm39) |
K197M |
probably damaging |
Het |
| Glb1l3 |
A |
G |
9: 26,729,825 (GRCm39) |
F515S |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,743,603 (GRCm39) |
I1233T |
probably damaging |
Het |
| Kptn |
A |
G |
7: 15,858,714 (GRCm39) |
Y286C |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,812,009 (GRCm39) |
N807S |
possibly damaging |
Het |
| Mki67 |
C |
T |
7: 135,296,059 (GRCm39) |
V2992M |
probably benign |
Het |
| Myocd |
A |
G |
11: 65,077,914 (GRCm39) |
L627P |
probably damaging |
Het |
| Neto2 |
A |
G |
8: 86,417,484 (GRCm39) |
I40T |
probably benign |
Het |
| Niban1 |
A |
G |
1: 151,565,365 (GRCm39) |
T232A |
probably benign |
Het |
| Nipsnap1 |
C |
T |
11: 4,843,134 (GRCm39) |
H269Y |
probably benign |
Het |
| Nlrp4g |
G |
A |
9: 124,349,068 (GRCm38) |
|
noncoding transcript |
Het |
| Nup188 |
A |
T |
2: 30,219,371 (GRCm39) |
R862S |
probably benign |
Het |
| Or1e16 |
T |
A |
11: 73,286,471 (GRCm39) |
I126F |
probably damaging |
Het |
| Or4a80 |
G |
T |
2: 89,582,692 (GRCm39) |
A160D |
probably benign |
Het |
| Or6c33 |
T |
A |
10: 129,853,981 (GRCm39) |
Y250* |
probably null |
Het |
| Pde4c |
A |
T |
8: 71,202,027 (GRCm39) |
K549N |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,361,933 (GRCm39) |
T992A |
probably benign |
Het |
| Pramel32 |
A |
G |
4: 88,547,600 (GRCm39) |
S24P |
possibly damaging |
Het |
| Smyd2 |
A |
G |
1: 189,621,079 (GRCm39) |
V213A |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,530,042 (GRCm39) |
L3277P |
probably damaging |
Het |
| Wdr72 |
T |
C |
9: 74,056,056 (GRCm39) |
V304A |
probably benign |
Het |
| Xrra1 |
T |
C |
7: 99,528,676 (GRCm39) |
|
probably null |
Het |
| Zscan29 |
C |
T |
2: 120,996,690 (GRCm39) |
A344T |
probably benign |
Het |
|
| Other mutations in Sult1c2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Sult1c2
|
APN |
17 |
54,140,147 (GRCm39) |
nonsense |
probably null |
|
|
IGL01398:Sult1c2
|
APN |
17 |
54,269,180 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01989:Sult1c2
|
APN |
17 |
54,281,055 (GRCm39) |
missense |
probably benign |
|
|
IGL02087:Sult1c2
|
APN |
17 |
54,279,068 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02312:Sult1c2
|
APN |
17 |
54,269,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03130:Sult1c2
|
APN |
17 |
54,137,099 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0586:Sult1c2
|
UTSW |
17 |
54,271,113 (GRCm39) |
splice site |
probably benign |
|
|
R0659:Sult1c2
|
UTSW |
17 |
54,138,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1545:Sult1c2
|
UTSW |
17 |
54,269,176 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1570:Sult1c2
|
UTSW |
17 |
54,143,991 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1574:Sult1c2
|
UTSW |
17 |
54,143,927 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1574:Sult1c2
|
UTSW |
17 |
54,143,927 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1752:Sult1c2
|
UTSW |
17 |
54,271,777 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1822:Sult1c2
|
UTSW |
17 |
54,280,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2232:Sult1c2
|
UTSW |
17 |
54,138,848 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2315:Sult1c2
|
UTSW |
17 |
54,145,521 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3522:Sult1c2
|
UTSW |
17 |
54,279,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4399:Sult1c2
|
UTSW |
17 |
54,269,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4600:Sult1c2
|
UTSW |
17 |
54,280,983 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4677:Sult1c2
|
UTSW |
17 |
54,137,137 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4896:Sult1c2
|
UTSW |
17 |
54,139,163 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5066:Sult1c2
|
UTSW |
17 |
54,281,026 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5140:Sult1c2
|
UTSW |
17 |
54,276,743 (GRCm39) |
missense |
probably benign |
|
|
R5334:Sult1c2
|
UTSW |
17 |
54,271,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5396:Sult1c2
|
UTSW |
17 |
54,143,939 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5656:Sult1c2
|
UTSW |
17 |
54,271,680 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5744:Sult1c2
|
UTSW |
17 |
54,280,990 (GRCm39) |
nonsense |
probably null |
|
|
R5941:Sult1c2
|
UTSW |
17 |
54,138,926 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6163:Sult1c2
|
UTSW |
17 |
54,280,981 (GRCm39) |
missense |
probably benign |
|
|
R7105:Sult1c2
|
UTSW |
17 |
54,280,917 (GRCm39) |
splice site |
probably null |
|
|
R7137:Sult1c2
|
UTSW |
17 |
54,145,422 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7836:Sult1c2
|
UTSW |
17 |
54,271,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8025:Sult1c2
|
UTSW |
17 |
54,138,837 (GRCm39) |
missense |
probably benign |
|
|
R8416:Sult1c2
|
UTSW |
17 |
54,269,580 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8519:Sult1c2
|
UTSW |
17 |
54,276,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9170:Sult1c2
|
UTSW |
17 |
54,269,200 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9353:Sult1c2
|
UTSW |
17 |
54,271,060 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation