Incidental Mutation 'IGL00959:Sult2a6'
ID |
27883 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL00959
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
13956328-13988795 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 13988634 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 42
(Y42C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138842
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076576]
[ENSMUST00000184731]
|
AlphaFold |
B2RVI8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000076576
AA Change: Y42C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000075884 Gene: ENSMUSG00000070810 AA Change: Y42C
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 damaging
Transcript: ENSMUST00000184731
AA Change: Y42C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138842 Gene: ENSMUSG00000070810 AA Change: Y42C
Domain | Start | End | E-Value | Type |
Pfam:Sulfotransfer_1
|
34 |
116 |
4.7e-20 |
PFAM |
|
Coding Region Coverage |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox12b |
A |
T |
11: 69,057,069 (GRCm39) |
H430L |
probably damaging |
Het |
Aox4 |
G |
T |
1: 58,278,333 (GRCm39) |
V443F |
probably damaging |
Het |
Bmpr2 |
A |
T |
1: 59,854,474 (GRCm39) |
I108F |
possibly damaging |
Het |
Cflar |
G |
A |
1: 58,768,321 (GRCm39) |
|
probably null |
Het |
Chchd3 |
A |
G |
6: 32,945,188 (GRCm39) |
V106A |
probably benign |
Het |
Chl1 |
G |
T |
6: 103,686,211 (GRCm39) |
|
probably null |
Het |
Clvs2 |
C |
T |
10: 33,404,459 (GRCm39) |
M252I |
probably benign |
Het |
Cntnap5a |
T |
A |
1: 116,112,057 (GRCm39) |
L449Q |
probably benign |
Het |
Col6a2 |
T |
A |
10: 76,450,368 (GRCm39) |
I188F |
probably damaging |
Het |
Cyp2c55 |
A |
G |
19: 39,026,587 (GRCm39) |
D398G |
probably benign |
Het |
Dennd1b |
T |
C |
1: 139,071,626 (GRCm39) |
|
probably benign |
Het |
Dop1a |
T |
A |
9: 86,369,484 (GRCm39) |
Y106N |
probably damaging |
Het |
Dpy19l1 |
A |
T |
9: 24,334,493 (GRCm39) |
|
probably null |
Het |
Extl3 |
C |
T |
14: 65,314,361 (GRCm39) |
V274I |
probably benign |
Het |
Fras1 |
G |
A |
5: 96,929,140 (GRCm39) |
R3848H |
probably damaging |
Het |
Gm11437 |
A |
C |
11: 84,039,448 (GRCm39) |
|
probably benign |
Het |
Gss |
T |
A |
2: 155,423,871 (GRCm39) |
D2V |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Ilvbl |
G |
A |
10: 78,419,739 (GRCm39) |
D548N |
probably damaging |
Het |
Jmjd6 |
A |
T |
11: 116,733,202 (GRCm39) |
D115E |
possibly damaging |
Het |
Kidins220 |
T |
A |
12: 25,101,132 (GRCm39) |
S1110R |
possibly damaging |
Het |
Kmt2c |
T |
A |
5: 25,481,227 (GRCm39) |
I4784F |
probably damaging |
Het |
Mrpl52 |
T |
C |
14: 54,664,494 (GRCm39) |
V11A |
possibly damaging |
Het |
Myo3b |
A |
G |
2: 70,144,636 (GRCm39) |
Y1036C |
probably damaging |
Het |
Omp |
T |
C |
7: 97,794,357 (GRCm39) |
D90G |
probably damaging |
Het |
Or6c2b |
T |
A |
10: 128,947,893 (GRCm39) |
M134L |
probably benign |
Het |
Osmr |
T |
C |
15: 6,854,086 (GRCm39) |
I541V |
probably benign |
Het |
Ppp2r1a |
A |
T |
17: 21,181,840 (GRCm39) |
|
probably benign |
Het |
Ptpn13 |
T |
A |
5: 103,665,437 (GRCm39) |
|
probably null |
Het |
Rock2 |
C |
A |
12: 17,028,056 (GRCm39) |
N1429K |
probably benign |
Het |
Saxo4 |
A |
T |
19: 10,454,887 (GRCm39) |
|
probably null |
Het |
Slc25a20 |
T |
G |
9: 108,559,198 (GRCm39) |
M188R |
possibly damaging |
Het |
Slc28a1 |
T |
C |
7: 80,818,816 (GRCm39) |
|
probably benign |
Het |
Tgfb2 |
A |
G |
1: 186,436,784 (GRCm39) |
V63A |
probably benign |
Het |
Ugt2b38 |
A |
T |
5: 87,559,682 (GRCm39) |
N403K |
probably damaging |
Het |
Vmn2r29 |
A |
G |
7: 7,244,855 (GRCm39) |
W340R |
probably benign |
Het |
Wnt5a |
C |
T |
14: 28,244,866 (GRCm39) |
T351M |
probably damaging |
Het |
|
Other mutations in Sult2a6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
|
Posted On |
2013-04-17 |