Incidental Mutation 'R3871:Sult2a6'
| ID |
276561 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sult2a6
|
| Ensembl Gene |
ENSMUSG00000070810 |
| Gene Name |
sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 6 |
| Synonyms |
Gm6957 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R3871 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
13956328-13988795 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13988701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 20
(K20E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138842
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076576]
[ENSMUST00000184731]
|
| AlphaFold |
B2RVI8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076576
AA Change: K20E
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000075884
Gene: ENSMUSG00000070810
AA Change: K20E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
34 |
278 |
1.2e-81 |
PFAM |
|
Pfam:Sulfotransfer_3
|
35 |
205 |
2.2e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184731
AA Change: K20E
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000138842
Gene: ENSMUSG00000070810
AA Change: K20E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
34 |
116 |
4.7e-20 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This is one of seven sulfotransferase family 2A genes in a chromosome 7 A1 cluster. [provided by RefSeq, May 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a1 |
T |
A |
19: 20,602,117 (GRCm39) |
Y225* |
probably null |
Het |
| Bard1 |
T |
C |
1: 71,114,099 (GRCm39) |
K294R |
probably benign |
Het |
| Bcap29 |
A |
T |
12: 31,667,080 (GRCm39) |
S194T |
probably benign |
Het |
| Ccdc40 |
G |
A |
11: 119,155,107 (GRCm39) |
V1116M |
probably damaging |
Het |
| Cntnap5a |
A |
G |
1: 115,987,979 (GRCm39) |
E170G |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyp2c54 |
T |
C |
19: 40,060,867 (GRCm39) |
D92G |
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,674,463 (GRCm39) |
F197L |
probably benign |
Het |
| Filip1l |
G |
T |
16: 57,333,649 (GRCm39) |
K147N |
probably damaging |
Het |
| Hrnr |
T |
A |
3: 93,239,181 (GRCm39) |
S3140T |
unknown |
Het |
| Igfn1 |
G |
T |
1: 135,896,574 (GRCm39) |
H1331N |
probably benign |
Het |
| Kalrn |
C |
T |
16: 34,024,226 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
TTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGC |
15: 98,748,902 (GRCm39) |
|
probably benign |
Het |
| Mfng |
A |
G |
15: 78,640,821 (GRCm39) |
L308P |
probably damaging |
Het |
| Nt5e |
C |
A |
9: 88,246,746 (GRCm39) |
N327K |
probably benign |
Het |
| Or5m13 |
T |
G |
2: 85,748,926 (GRCm39) |
|
probably null |
Het |
| Pgbd1 |
C |
T |
13: 21,618,540 (GRCm39) |
R39H |
possibly damaging |
Het |
| Phactr4 |
T |
C |
4: 132,104,560 (GRCm39) |
T256A |
probably benign |
Het |
| Rab24 |
T |
C |
13: 55,468,992 (GRCm39) |
D63G |
probably damaging |
Het |
| Rubcnl |
C |
T |
14: 75,278,356 (GRCm39) |
P380L |
probably benign |
Het |
| Satb2 |
A |
G |
1: 56,930,379 (GRCm39) |
S215P |
probably damaging |
Het |
| Serpina3b |
A |
T |
12: 104,105,047 (GRCm39) |
I408F |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,035,753 (GRCm39) |
D746G |
probably damaging |
Het |
| Sf3a2 |
A |
C |
10: 80,640,527 (GRCm39) |
|
probably benign |
Het |
| Snx33 |
T |
C |
9: 56,834,024 (GRCm39) |
N15S |
probably benign |
Het |
| Snx9 |
C |
T |
17: 5,942,056 (GRCm39) |
P61L |
probably benign |
Het |
| Tas2r122 |
A |
G |
6: 132,688,543 (GRCm39) |
S117P |
probably benign |
Het |
| Tmem26 |
G |
A |
10: 68,614,562 (GRCm39) |
E326K |
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,781,380 (GRCm39) |
C789S |
probably null |
Het |
| Togaram1 |
A |
C |
12: 65,049,419 (GRCm39) |
E1285D |
probably benign |
Het |
| Ubxn7 |
T |
A |
16: 32,200,248 (GRCm39) |
S335T |
possibly damaging |
Het |
| Unc119b |
G |
A |
5: 115,268,567 (GRCm39) |
T106M |
probably damaging |
Het |
| Usp14 |
A |
G |
18: 10,002,370 (GRCm39) |
S314P |
possibly damaging |
Het |
| Usp32 |
T |
C |
11: 84,971,982 (GRCm39) |
D129G |
probably null |
Het |
|
| Other mutations in Sult2a6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00959:Sult2a6
|
APN |
7 |
13,988,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01977:Sult2a6
|
APN |
7 |
13,987,411 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02524:Sult2a6
|
APN |
7 |
13,970,611 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03209:Sult2a6
|
APN |
7 |
13,959,897 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL03379:Sult2a6
|
APN |
7 |
13,956,511 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1840:Sult2a6
|
UTSW |
7 |
13,988,754 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1893:Sult2a6
|
UTSW |
7 |
13,959,814 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2037:Sult2a6
|
UTSW |
7 |
13,988,634 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2331:Sult2a6
|
UTSW |
7 |
13,959,795 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3921:Sult2a6
|
UTSW |
7 |
13,988,668 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5599:Sult2a6
|
UTSW |
7 |
13,988,629 (GRCm39) |
nonsense |
probably null |
|
|
R5761:Sult2a6
|
UTSW |
7 |
13,984,283 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6744:Sult2a6
|
UTSW |
7 |
13,956,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6956:Sult2a6
|
UTSW |
7 |
13,988,748 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7152:Sult2a6
|
UTSW |
7 |
13,956,445 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7869:Sult2a6
|
UTSW |
7 |
13,988,737 (GRCm39) |
missense |
not run |
|
|
R7990:Sult2a6
|
UTSW |
7 |
13,959,795 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8347:Sult2a6
|
UTSW |
7 |
13,959,883 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8369:Sult2a6
|
UTSW |
7 |
13,987,327 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8391:Sult2a6
|
UTSW |
7 |
13,956,516 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8414:Sult2a6
|
UTSW |
7 |
13,984,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9317:Sult2a6
|
UTSW |
7 |
13,970,615 (GRCm39) |
nonsense |
probably null |
|
|
R9654:Sult2a6
|
UTSW |
7 |
13,956,445 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1088:Sult2a6
|
UTSW |
7 |
13,959,819 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGGTGCCATAGATGATCAC -3'
(R):5'- TCCTATCAGTAGCTAGTTTCACAAC -3'
Sequencing Primer
(F):5'- GTGGTGCCATAGATGATCACCTTATC -3'
(R):5'- GCAATATGCTGAACTGGTG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation