Incidental Mutation 'R3921:Sult2a6'
ID |
315737 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sult2a6
|
Ensembl Gene |
ENSMUSG00000070810 |
Gene Name |
sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 6 |
Synonyms |
Gm6957 |
MMRRC Submission |
040818-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R3921 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
13956328-13988795 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 13988668 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 31
(V31M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138842
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076576]
[ENSMUST00000184731]
|
AlphaFold |
B2RVI8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076576
AA Change: V31M
PolyPhen 2
Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000075884 Gene: ENSMUSG00000070810 AA Change: V31M
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 |
possibly damaging
Transcript: ENSMUST00000184731
AA Change: V31M
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000138842 Gene: ENSMUSG00000070810 AA Change: V31M
Domain | Start | End | E-Value | Type |
Pfam:Sulfotransfer_1
|
34 |
116 |
4.7e-20 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
T |
A |
3: 59,659,498 (GRCm39) |
L317Q |
probably damaging |
Het |
Aebp2 |
C |
T |
6: 140,579,461 (GRCm39) |
R11C |
probably damaging |
Het |
Anxa8 |
T |
C |
14: 33,816,403 (GRCm39) |
F201L |
probably damaging |
Het |
Armh4 |
A |
G |
14: 50,011,659 (GRCm39) |
F16S |
probably benign |
Het |
Bcl7a |
A |
G |
5: 123,509,136 (GRCm39) |
N206S |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,934,014 (GRCm39) |
N2542D |
probably damaging |
Het |
Cubn |
A |
G |
2: 13,331,488 (GRCm39) |
Y2562H |
probably damaging |
Het |
Dnah12 |
C |
G |
14: 26,493,008 (GRCm39) |
D1256E |
probably damaging |
Het |
Dnajb14 |
A |
T |
3: 137,610,613 (GRCm39) |
R280S |
probably damaging |
Het |
Dop1a |
A |
T |
9: 86,402,324 (GRCm39) |
I1173F |
probably benign |
Het |
Fam228a |
T |
C |
12: 4,781,506 (GRCm39) |
T118A |
probably benign |
Het |
Gata2 |
TGCCATGGGCTAGGCAAGCC |
TGCC |
6: 88,182,464 (GRCm39) |
|
probably null |
Het |
Hif3a |
T |
C |
7: 16,771,097 (GRCm39) |
D618G |
possibly damaging |
Het |
Ighv1-43 |
C |
A |
12: 114,909,772 (GRCm39) |
G50V |
probably benign |
Het |
Lrrc37a |
G |
T |
11: 103,392,296 (GRCm39) |
T1043N |
probably benign |
Het |
Masp2 |
T |
A |
4: 148,690,188 (GRCm39) |
D232E |
possibly damaging |
Het |
Ms4a4a |
A |
C |
19: 11,356,172 (GRCm39) |
Q19P |
probably benign |
Het |
Nckipsd |
A |
G |
9: 108,691,275 (GRCm39) |
E399G |
possibly damaging |
Het |
Nnt |
T |
A |
13: 119,503,030 (GRCm39) |
T572S |
probably damaging |
Het |
Olig3 |
A |
G |
10: 19,232,423 (GRCm39) |
D16G |
probably damaging |
Het |
Or4a74 |
C |
T |
2: 89,439,853 (GRCm39) |
V198I |
probably benign |
Het |
Or5p57 |
T |
A |
7: 107,665,108 (GRCm39) |
D299V |
possibly damaging |
Het |
Polr2b |
T |
C |
5: 77,474,500 (GRCm39) |
Y446H |
probably damaging |
Het |
Prtg |
T |
C |
9: 72,755,629 (GRCm39) |
V277A |
probably damaging |
Het |
Rnf31 |
T |
C |
14: 55,838,599 (GRCm39) |
Y857H |
probably damaging |
Het |
Serac1 |
T |
C |
17: 6,117,067 (GRCm39) |
D163G |
probably damaging |
Het |
Slc22a22 |
C |
A |
15: 57,119,940 (GRCm39) |
V197F |
probably benign |
Het |
Slc2a10 |
C |
T |
2: 165,357,521 (GRCm39) |
P394S |
probably benign |
Het |
Spg7 |
G |
C |
8: 123,814,112 (GRCm39) |
R457P |
probably damaging |
Het |
St7 |
A |
G |
6: 17,846,244 (GRCm39) |
N120D |
probably benign |
Het |
Taf3 |
T |
C |
2: 10,053,109 (GRCm39) |
T35A |
probably benign |
Het |
Tmem131l |
A |
G |
3: 83,847,908 (GRCm39) |
I319T |
possibly damaging |
Het |
Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
Ttc23l |
T |
TTGGATG |
15: 10,537,649 (GRCm39) |
|
probably benign |
Het |
Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
Vmn2r9 |
T |
G |
5: 108,996,921 (GRCm39) |
Y116S |
probably benign |
Het |
Vstm2l |
A |
G |
2: 157,777,283 (GRCm39) |
T54A |
probably benign |
Het |
Xrn1 |
T |
A |
9: 95,851,337 (GRCm39) |
M153K |
probably benign |
Het |
Zfp106 |
G |
A |
2: 120,364,097 (GRCm39) |
P770L |
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 |
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 |
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'- GTTGTGGTGCCATAGATGATCAC -3'
(R):5'- TCCTATCAGTAGCTAGTTTCACAAC -3'
Sequencing Primer
(F):5'- GTGGTGCCATAGATGATCACCTTATC -3'
(R):5'- CACCTACAAGGAGCTGTT -3'
|
Posted On |
2015-05-15 |