Incidental Mutation 'R2331:Sult2a6'
| ID |
245872 |
| 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: 0.071)
|
| Stock # |
R2331 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
13956328-13988795 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13959795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 246
(M246K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076576]
[ENSMUST00000184731]
|
| AlphaFold |
B2RVI8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076576
AA Change: M246K
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000075884
Gene: ENSMUSG00000070810
AA Change: M246K
| 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
|
| SMART Domains |
Protein: ENSMUSP00000138842
Gene: ENSMUSG00000070810
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
34 |
116 |
4.7e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184741
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
C |
T |
1: 38,243,971 (GRCm39) |
|
probably null |
Het |
| Cadps |
A |
G |
14: 12,603,692 (GRCm38) |
I376T |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Gm10295 |
A |
C |
7: 71,000,437 (GRCm39) |
S48A |
unknown |
Het |
| Gstcd |
A |
G |
3: 132,704,641 (GRCm39) |
C538R |
probably damaging |
Het |
| Hcn3 |
A |
T |
3: 89,055,397 (GRCm39) |
S617T |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,458,089 (GRCm39) |
I752V |
probably benign |
Het |
| Itgb7 |
G |
T |
15: 102,131,983 (GRCm39) |
T200K |
probably damaging |
Het |
| Lcn11 |
C |
A |
2: 25,670,188 (GRCm39) |
T177K |
possibly damaging |
Het |
| Lsm14a |
A |
G |
7: 34,056,915 (GRCm39) |
V241A |
probably benign |
Het |
| Magi1 |
T |
C |
6: 93,662,543 (GRCm39) |
K1075E |
probably damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,265 (GRCm39) |
I48V |
probably benign |
Het |
| Or4d10c |
C |
A |
19: 12,065,522 (GRCm39) |
L211F |
probably benign |
Het |
| P4hb |
T |
C |
11: 120,459,106 (GRCm39) |
N129S |
probably benign |
Het |
| Piezo1 |
C |
T |
8: 123,214,005 (GRCm39) |
|
probably null |
Het |
| Ppp3ca |
T |
C |
3: 136,503,580 (GRCm39) |
M51T |
probably benign |
Het |
| Sema6d |
T |
C |
2: 124,499,983 (GRCm39) |
V353A |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Sh3rf2 |
T |
C |
18: 42,186,928 (GRCm39) |
F16L |
probably benign |
Het |
| Sparcl1 |
A |
G |
5: 104,233,660 (GRCm39) |
L563P |
probably damaging |
Het |
| Stra6l |
T |
C |
4: 45,858,224 (GRCm39) |
|
probably null |
Het |
| Trpv5 |
A |
G |
6: 41,636,902 (GRCm39) |
S399P |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,264,011 (GRCm39) |
F1006L |
possibly damaging |
Het |
| Uhrf1 |
C |
A |
17: 56,617,671 (GRCm39) |
|
probably null |
Het |
| Wdr72 |
A |
G |
9: 74,055,608 (GRCm39) |
Y279C |
probably damaging |
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 |
|
R3871:Sult2a6
|
UTSW |
7 |
13,988,701 (GRCm39) |
missense |
probably benign |
0.16 |
|
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'- AGTGTTTGAAACCTACATCTTCTGC -3'
(R):5'- TGCATTAGTTCTCTCAGAGCTC -3'
Sequencing Primer
(F):5'- GATGAGCAGTGACTCTCA -3'
(R):5'- TTCTTCTTTTAGGATGCAAAGGGAAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation