Incidental Mutation 'R0002:Sult3a2'
| ID |
157139 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sult3a2
|
| Ensembl Gene |
ENSMUSG00000090298 |
| Gene Name |
sulfotransferase family 3A, member 2 |
| Synonyms |
Gm4794 |
| MMRRC Submission |
038298-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R0002 (G1)
|
| Quality Score |
38 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
33642420-33662700 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33655803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 59
(I59V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165904]
[ENSMUST00000223295]
|
| AlphaFold |
G5E904 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165904
AA Change: I59V
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000127159
Gene: ENSMUSG00000090298
AA Change: I59V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
36 |
283 |
8.9e-80 |
PFAM |
|
Pfam:Sulfotransfer_3
|
37 |
207 |
6.8e-9 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223295
AA Change: I59V
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl2 |
T |
C |
1: 106,640,241 (GRCm39) |
R124G |
possibly damaging |
Het |
| Catsper1 |
A |
G |
19: 5,391,551 (GRCm39) |
|
probably benign |
Het |
| Ccdc125 |
C |
T |
13: 100,830,114 (GRCm39) |
Q295* |
probably null |
Het |
| Cdhr5 |
G |
T |
7: 140,849,933 (GRCm39) |
|
probably null |
Het |
| Dhx36 |
A |
C |
3: 62,388,260 (GRCm39) |
L625W |
probably damaging |
Het |
| Icam5 |
T |
A |
9: 20,944,801 (GRCm39) |
D121E |
probably benign |
Het |
| Ncoa1 |
A |
G |
12: 4,340,885 (GRCm39) |
V849A |
probably benign |
Het |
| Nuak1 |
A |
T |
10: 84,211,231 (GRCm39) |
W286R |
probably damaging |
Het |
| Pate14 |
A |
T |
9: 36,548,655 (GRCm39) |
D59E |
probably damaging |
Het |
| Prkag3 |
T |
C |
1: 74,783,947 (GRCm39) |
D312G |
probably damaging |
Het |
| Sbk3 |
T |
C |
7: 4,973,630 (GRCm39) |
D17G |
probably damaging |
Het |
| Slc26a5 |
T |
A |
5: 22,019,981 (GRCm39) |
I530F |
probably damaging |
Het |
| Spink12 |
T |
C |
18: 44,240,763 (GRCm39) |
C50R |
probably damaging |
Het |
| Tapbp |
C |
T |
17: 34,144,606 (GRCm39) |
A234V |
probably damaging |
Het |
| Tnr |
T |
C |
1: 159,701,770 (GRCm39) |
Y624H |
probably damaging |
Het |
| Zfp560 |
T |
C |
9: 20,258,813 (GRCm39) |
Y683C |
probably damaging |
Het |
|
| Other mutations in Sult3a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02510:Sult3a2
|
APN |
10 |
33,642,435 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03106:Sult3a2
|
APN |
10 |
33,655,769 (GRCm39) |
missense |
probably benign |
0.25 |
|
H8441:Sult3a2
|
UTSW |
10 |
33,642,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0602:Sult3a2
|
UTSW |
10 |
33,658,044 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1170:Sult3a2
|
UTSW |
10 |
33,653,188 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1510:Sult3a2
|
UTSW |
10 |
33,658,026 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1572:Sult3a2
|
UTSW |
10 |
33,657,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1725:Sult3a2
|
UTSW |
10 |
33,655,705 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4601:Sult3a2
|
UTSW |
10 |
33,658,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5570:Sult3a2
|
UTSW |
10 |
33,654,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6529:Sult3a2
|
UTSW |
10 |
33,655,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7996:Sult3a2
|
UTSW |
10 |
33,644,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8255:Sult3a2
|
UTSW |
10 |
33,655,747 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8531:Sult3a2
|
UTSW |
10 |
33,653,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8982:Sult3a2
|
UTSW |
10 |
33,658,069 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9018:Sult3a2
|
UTSW |
10 |
33,655,689 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9504:Sult3a2
|
UTSW |
10 |
33,642,436 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9546:Sult3a2
|
UTSW |
10 |
33,655,670 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
V1024:Sult3a2
|
UTSW |
10 |
33,642,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCAAGTGGCTAAGTTCTGTGAC -3'
(R):5'- GGCATGATCTGATCTGATCACGCTC -3'
Sequencing Primer
(F):5'- CTAAGTTCTGTGACATACTTTGGC -3'
(R):5'- GATCACGCTCTATTCATGTGTAG -3'
|
| Posted On |
2014-02-14 |
Incidental Mutation