Incidental Mutation 'H8441:Sult3a2'
| ID |
82549 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sult3a2
|
| Ensembl Gene |
ENSMUSG00000090298 |
| Gene Name |
sulfotransferase family 3A, member 2 |
| Synonyms |
Gm4794 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
H8441 (G3)
of strain
599
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
33642420-33662700 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33642474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 276
(H276Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165904]
[ENSMUST00000223295]
|
| AlphaFold |
G5E904 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165904
AA Change: H276Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000127159
Gene: ENSMUSG00000090298
AA Change: H276Q
| 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 |
probably benign
Transcript: ENSMUST00000223295
AA Change: H276Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
A |
C |
11: 50,675,505 (GRCm39) |
D677A |
probably damaging |
Het |
| Dido1 |
G |
T |
2: 180,330,807 (GRCm39) |
Q214K |
probably benign |
Het |
| H2-T5 |
T |
A |
17: 36,478,874 (GRCm39) |
Q125L |
possibly damaging |
Het |
| Itgbl1 |
A |
G |
14: 124,210,699 (GRCm39) |
N342D |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,152,815 (GRCm39) |
I282T |
probably damaging |
Het |
| Or6b13 |
C |
T |
7: 139,781,871 (GRCm39) |
D271N |
possibly damaging |
Het |
| Pes1 |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
11: 3,927,636 (GRCm39) |
|
probably benign |
Het |
| Phf2 |
C |
T |
13: 48,957,841 (GRCm39) |
A1058T |
possibly damaging |
Het |
| Pja2 |
T |
C |
17: 64,618,192 (GRCm39) |
D69G |
probably damaging |
Het |
| Pnmt |
G |
A |
11: 98,278,513 (GRCm39) |
A160T |
probably benign |
Het |
| Pomgnt2 |
T |
G |
9: 121,811,650 (GRCm39) |
Y377S |
probably damaging |
Het |
| Scn11a |
T |
A |
9: 119,636,976 (GRCm39) |
I242F |
probably damaging |
Het |
| Slc7a1 |
C |
T |
5: 148,271,355 (GRCm39) |
V535M |
probably benign |
Het |
| Stk32b |
T |
C |
5: 37,614,578 (GRCm39) |
D310G |
probably damaging |
Het |
| Susd5 |
A |
T |
9: 113,925,253 (GRCm39) |
K379* |
probably null |
Het |
| Tbc1d16 |
C |
A |
11: 119,039,840 (GRCm39) |
E656* |
probably null |
Het |
| Tcp10b |
T |
C |
17: 13,289,748 (GRCm39) |
S234P |
probably damaging |
Het |
| Vmo1 |
A |
G |
11: 70,404,572 (GRCm39) |
F143S |
probably damaging |
Het |
| Zfp609 |
T |
C |
9: 65,702,169 (GRCm39) |
E161G |
possibly 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 |
|
R0002:Sult3a2
|
UTSW |
10 |
33,655,803 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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'- AACCAATGCTCATAGCTCCCTTTGAAA -3'
(R):5'- AGGAGAGGTATCCATCTGATCCCTACT -3'
Sequencing Primer
(F):5'- GCTCCCTTTGAAAGTCATGTTATG -3'
(R):5'- TGATCCCTACTAAGGACTCAGTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation