Incidental Mutation 'R1545:Sult1c2'
| ID |
172146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sult1c2
|
| Ensembl Gene |
ENSMUSG00000023122 |
| Gene Name |
sulfotransferase family, cytosolic, 1C, member 2 |
| Synonyms |
1810008N17Rik, ST1C1 |
| MMRRC Submission |
039584-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R1545 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
54136665-54152986 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 54269176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 280
(A280E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024738
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024738]
|
| AlphaFold |
Q9D939 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024738
AA Change: A280E
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000024738
Gene: ENSMUSG00000023943
AA Change: A280E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
46 |
297 |
4.7e-93 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.6%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
C |
T |
15: 102,247,641 (GRCm39) |
R410H |
probably damaging |
Het |
| Abca2 |
T |
C |
2: 25,332,370 (GRCm39) |
C1468R |
probably benign |
Het |
| Actl9 |
T |
A |
17: 33,652,231 (GRCm39) |
I97N |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,006,217 (GRCm39) |
M234K |
probably benign |
Het |
| Bax |
A |
C |
7: 45,111,357 (GRCm39) |
H168Q |
probably null |
Het |
| Brinp1 |
A |
G |
4: 68,681,192 (GRCm39) |
L446P |
possibly damaging |
Het |
| Cdc14a |
A |
G |
3: 116,087,373 (GRCm39) |
|
probably null |
Het |
| Cfap299 |
C |
A |
5: 98,477,291 (GRCm39) |
Q27K |
probably benign |
Het |
| Cpq |
A |
T |
15: 33,250,146 (GRCm39) |
I168F |
probably damaging |
Het |
| Crkl |
A |
T |
16: 17,301,556 (GRCm39) |
N270I |
probably damaging |
Het |
| Cul7 |
G |
A |
17: 46,962,479 (GRCm39) |
E37K |
probably damaging |
Het |
| Eps15 |
C |
T |
4: 109,169,526 (GRCm39) |
T112I |
probably benign |
Het |
| F5 |
C |
T |
1: 164,036,529 (GRCm39) |
R1897* |
probably null |
Het |
| Fbxl5 |
A |
T |
5: 43,928,140 (GRCm39) |
L40Q |
probably damaging |
Het |
| Fhip1a |
C |
T |
3: 85,573,261 (GRCm39) |
S896N |
probably damaging |
Het |
| Gprc5a |
C |
A |
6: 135,060,459 (GRCm39) |
T316K |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,462,019 (GRCm39) |
L2299Q |
possibly damaging |
Het |
| Khdc3 |
C |
G |
9: 73,010,942 (GRCm39) |
P240R |
probably benign |
Het |
| Kif20b |
A |
G |
19: 34,906,318 (GRCm39) |
T69A |
probably damaging |
Het |
| Kptn |
C |
G |
7: 15,857,888 (GRCm39) |
Q239E |
probably benign |
Het |
| Lep |
T |
C |
6: 29,070,831 (GRCm39) |
S52P |
probably damaging |
Het |
| Lrig3 |
G |
A |
10: 125,844,416 (GRCm39) |
V627M |
possibly damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,499,745 (GRCm39) |
K615E |
probably benign |
Het |
| Mdga1 |
G |
A |
17: 30,061,876 (GRCm39) |
R792C |
probably damaging |
Het |
| Mink1 |
T |
C |
11: 70,489,717 (GRCm39) |
V58A |
possibly damaging |
Het |
| Neu1 |
G |
A |
17: 35,153,374 (GRCm39) |
R299Q |
probably benign |
Het |
| Nrg3 |
T |
A |
14: 38,129,111 (GRCm39) |
I375F |
probably benign |
Het |
| Nup50 |
A |
G |
15: 84,823,993 (GRCm39) |
T449A |
possibly damaging |
Het |
| Nup98 |
A |
G |
7: 101,784,087 (GRCm39) |
S1082P |
possibly damaging |
Het |
| Or8b1b |
C |
A |
9: 38,375,815 (GRCm39) |
H159Q |
probably benign |
Het |
| Otub1 |
T |
C |
19: 7,176,571 (GRCm39) |
I188V |
probably benign |
Het |
| Pcdhac2 |
T |
C |
18: 37,279,186 (GRCm39) |
I722T |
possibly damaging |
Het |
| Pcsk7 |
T |
A |
9: 45,825,646 (GRCm39) |
D292E |
probably damaging |
Het |
| Peli2 |
T |
A |
14: 48,490,174 (GRCm39) |
D215E |
probably benign |
Het |
| Ppp1r9a |
T |
C |
6: 5,156,242 (GRCm39) |
|
probably null |
Het |
| Ppp2r1b |
A |
G |
9: 50,773,725 (GRCm39) |
K136R |
possibly damaging |
Het |
| Prpf3 |
T |
C |
3: 95,755,115 (GRCm39) |
K157E |
probably damaging |
Het |
| Prss50 |
T |
C |
9: 110,690,336 (GRCm39) |
S160P |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,216,774 (GRCm39) |
V2251A |
probably damaging |
Het |
| Rgs6 |
G |
A |
12: 83,162,951 (GRCm39) |
E386K |
probably damaging |
Het |
| Rida |
A |
G |
15: 34,495,250 (GRCm39) |
I5T |
probably benign |
Het |
| Rpe |
A |
G |
1: 66,740,169 (GRCm39) |
H35R |
probably damaging |
Het |
| Sema4b |
T |
A |
7: 79,868,771 (GRCm39) |
D321E |
probably benign |
Het |
| Slc22a13 |
G |
A |
9: 119,038,113 (GRCm39) |
A5V |
probably benign |
Het |
| Snta1 |
C |
T |
2: 154,218,926 (GRCm39) |
|
probably null |
Het |
| Spdye4c |
T |
A |
2: 128,437,632 (GRCm39) |
N220K |
probably benign |
Het |
| Tfr2 |
A |
G |
5: 137,581,561 (GRCm39) |
E579G |
probably benign |
Het |
| Tmem221 |
A |
G |
8: 72,011,182 (GRCm39) |
L91P |
probably damaging |
Het |
| Tspear |
T |
A |
10: 77,706,253 (GRCm39) |
L341H |
possibly damaging |
Het |
| Vmn1r17 |
A |
G |
6: 57,338,317 (GRCm39) |
V16A |
probably benign |
Het |
| Vmn1r188 |
A |
G |
13: 22,272,603 (GRCm39) |
R186G |
probably damaging |
Het |
| Wfikkn1 |
A |
G |
17: 26,097,565 (GRCm39) |
V253A |
probably damaging |
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 |
|
IGL01938:Sult1c2
|
APN |
17 |
54,138,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCGTGCAACCGCTTAGGAATG -3'
(R):5'- AGCAGTCAGTGTCCTGCACTAAAAC -3'
Sequencing Primer
(F):5'- CGCTTAGGAATGGAGGCTC -3'
(R):5'- CCTTTGATGTAATGAAGCAGAACCC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation