Incidental Mutation 'R9317:Sult2a6'
| ID |
705912 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sult2a6
|
| Ensembl Gene |
ENSMUSG00000070810 |
| Gene Name |
sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 6 |
| Synonyms |
Gm6957 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R9317 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
13956328-13988795 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 13970615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 160
(Y160*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076576]
[ENSMUST00000184731]
|
| AlphaFold |
B2RVI8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000076576
AA Change: Y160*
|
| SMART Domains |
Protein: ENSMUSP00000075884
Gene: ENSMUSG00000070810
AA Change: Y160*
| 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 |
unknown
Transcript: ENSMUST00000184731
AA Change: M118K
|
| SMART Domains |
Protein: ENSMUSP00000138842
Gene: ENSMUSG00000070810
AA Change: M118K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
34 |
116 |
4.7e-20 |
PFAM |
|
| Meta Mutation Damage Score |
0.9666 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad2 |
T |
C |
8: 120,342,180 (GRCm39) |
L307P |
probably damaging |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| C1qbp |
T |
C |
11: 70,868,929 (GRCm39) |
N278D |
probably benign |
Het |
| Cd68 |
C |
T |
11: 69,555,860 (GRCm39) |
|
probably null |
Het |
| Cdc37l1 |
T |
G |
19: 28,972,518 (GRCm39) |
N70K |
probably damaging |
Het |
| Cyp3a57 |
T |
C |
5: 145,309,421 (GRCm39) |
V253A |
possibly damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,829,575 (GRCm39) |
F795S |
probably damaging |
Het |
| Gli3 |
T |
A |
13: 15,889,658 (GRCm39) |
S591T |
probably damaging |
Het |
| Gmeb1 |
A |
T |
4: 131,953,349 (GRCm39) |
S472R |
probably benign |
Het |
| Gpr158 |
T |
C |
2: 21,832,037 (GRCm39) |
S1046P |
probably benign |
Het |
| Grik5 |
A |
G |
7: 24,745,660 (GRCm39) |
L471P |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,350,328 (GRCm39) |
R5075H |
possibly damaging |
Het |
| Hspa5 |
G |
T |
2: 34,666,070 (GRCm39) |
S638I |
probably benign |
Het |
| Ilf3 |
A |
G |
9: 21,307,422 (GRCm39) |
Y355C |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 33,834,045 (GRCm39) |
T2366A |
|
Het |
| Negr1 |
T |
A |
3: 156,904,081 (GRCm39) |
C315S |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or8b52 |
T |
A |
9: 38,576,655 (GRCm39) |
M162L |
probably benign |
Het |
| Prr5 |
C |
T |
15: 84,583,324 (GRCm39) |
Q110* |
probably null |
Het |
| Prune2 |
T |
A |
19: 17,099,034 (GRCm39) |
S1513T |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,230,731 (GRCm39) |
E274G |
probably damaging |
Het |
| Qrfprl |
A |
C |
6: 65,424,368 (GRCm39) |
I174L |
probably benign |
Het |
| Rmdn3 |
G |
A |
2: 118,986,991 (GRCm39) |
A12V |
unknown |
Het |
| Rpf1 |
A |
G |
3: 146,218,016 (GRCm39) |
V166A |
probably benign |
Het |
| Senp5 |
A |
C |
16: 31,802,390 (GRCm39) |
F554C |
probably damaging |
Het |
| Smarca2 |
T |
C |
19: 26,737,279 (GRCm39) |
C65R |
possibly damaging |
Het |
| Sprr2j-ps |
T |
A |
3: 92,326,178 (GRCm39) |
C18S |
unknown |
Het |
| Taar8a |
T |
C |
10: 23,952,753 (GRCm39) |
V119A |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,301,896 (GRCm39) |
K351R |
probably benign |
Het |
| Trpc1 |
A |
G |
9: 95,603,275 (GRCm39) |
L419P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,641,699 (GRCm39) |
K13466E |
possibly damaging |
Het |
| Unc13c |
A |
G |
9: 73,447,662 (GRCm39) |
F1846S |
possibly damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vmn2r72 |
A |
T |
7: 85,404,022 (GRCm39) |
N56K |
probably benign |
Het |
| Wdr12 |
C |
A |
1: 60,128,455 (GRCm39) |
M98I |
probably benign |
Het |
| Zfp953 |
T |
C |
13: 67,491,457 (GRCm39) |
Y165C |
possibly 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 |
|
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 |
|
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'- TTGGATTAGATTTTCTTTGGCAGAA -3'
(R):5'- CCTTGCACCTTGGCAGTAGG -3'
Sequencing Primer
(F):5'- CCTTGAGGAGAGGGTTAATATGATC -3'
(R):5'- ATCTCCTCATGGCATCAGTGGTAAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation