Incidental Mutation 'R1376:Sult2a2'
| ID |
162881 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sult2a2
|
| Ensembl Gene |
ENSMUSG00000070811 |
| Gene Name |
sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 2 |
| Synonyms |
mSTa2, Sth2, C730007P19Rik |
| MMRRC Submission |
039440-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R1376 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
13467431-13513562 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13468696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 54
(V54A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086148]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086148
AA Change: V54A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000083317
Gene: ENSMUSG00000070811
AA Change: V54A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
34 |
162 |
2.3e-37 |
PFAM |
|
Pfam:Sulfotransfer_1
|
157 |
187 |
1.3e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 96.7%
- 10x: 90.4%
- 20x: 75.5%
|
| Validation Efficiency |
100% (3/3) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
T |
11: 80,254,735 (GRCm39) |
I362N |
possibly damaging |
Het |
| 9130023H24Rik |
A |
G |
7: 127,836,182 (GRCm39) |
V137A |
probably benign |
Het |
| Adal |
A |
G |
2: 120,983,011 (GRCm39) |
D177G |
probably damaging |
Het |
| Cdcp2 |
G |
T |
4: 106,959,956 (GRCm39) |
V124F |
possibly damaging |
Het |
| Ceacam3 |
T |
C |
7: 16,897,088 (GRCm39) |
C685R |
probably damaging |
Het |
| Cfd |
T |
C |
10: 79,727,986 (GRCm39) |
I174T |
possibly damaging |
Het |
| Dapk2 |
C |
G |
9: 66,127,925 (GRCm39) |
R68G |
probably damaging |
Het |
| Ehd1 |
C |
T |
19: 6,344,418 (GRCm39) |
T226M |
probably damaging |
Het |
| Elp5 |
A |
G |
11: 69,865,916 (GRCm39) |
V120A |
probably benign |
Het |
| Fzd1 |
G |
A |
5: 4,807,174 (GRCm39) |
T136M |
possibly damaging |
Het |
| Galntl5 |
G |
T |
5: 25,391,286 (GRCm39) |
V62F |
probably benign |
Het |
| Josd2 |
C |
A |
7: 44,120,539 (GRCm39) |
P50H |
probably damaging |
Het |
| Lect2 |
T |
A |
13: 56,690,577 (GRCm39) |
I133F |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,214,245 (GRCm39) |
T700A |
probably benign |
Het |
| Lpl |
T |
C |
8: 69,340,250 (GRCm39) |
W82R |
probably damaging |
Het |
| Man2a1 |
C |
T |
17: 64,979,038 (GRCm39) |
R523C |
possibly damaging |
Het |
| Mast4 |
T |
C |
13: 102,872,916 (GRCm39) |
K1959E |
possibly damaging |
Het |
| Minar1 |
T |
C |
9: 89,473,299 (GRCm39) |
T871A |
probably damaging |
Het |
| Or10ag57 |
A |
G |
2: 87,218,162 (GRCm39) |
M38V |
probably benign |
Het |
| Or10ag58 |
C |
T |
2: 87,264,903 (GRCm39) |
S24L |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,650,533 (GRCm39) |
V963A |
probably damaging |
Het |
| Pdgfd |
A |
G |
9: 6,376,994 (GRCm39) |
I357V |
probably benign |
Het |
| Pold1 |
T |
C |
7: 44,189,986 (GRCm39) |
D400G |
probably damaging |
Het |
| Ppp1r12a |
T |
C |
10: 108,034,779 (GRCm39) |
I108T |
probably damaging |
Het |
| Rimbp2 |
G |
C |
5: 128,847,355 (GRCm39) |
P931A |
possibly damaging |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Sf3b1 |
A |
T |
1: 55,058,424 (GRCm39) |
V55E |
probably damaging |
Het |
| Taf2 |
GCTTCTTCTTCTTCTTCTT |
GCTTCTTCTTCTTCTT |
15: 54,879,857 (GRCm39) |
|
probably benign |
Het |
| Taok3 |
T |
C |
5: 117,404,026 (GRCm39) |
Y734H |
probably damaging |
Het |
| Tasor |
A |
G |
14: 27,151,338 (GRCm39) |
K105E |
probably benign |
Het |
| Tuba3b |
A |
G |
6: 145,564,500 (GRCm39) |
E90G |
possibly damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sult2a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00541:Sult2a2
|
APN |
7 |
13,468,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01504:Sult2a2
|
APN |
7 |
13,472,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01833:Sult2a2
|
APN |
7 |
13,468,721 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03162:Sult2a2
|
APN |
7 |
13,468,822 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03408:Sult2a2
|
APN |
7 |
13,472,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0941:Sult2a2
|
UTSW |
7 |
13,468,815 (GRCm39) |
nonsense |
probably null |
|
|
R1109:Sult2a2
|
UTSW |
7 |
13,468,798 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1376:Sult2a2
|
UTSW |
7 |
13,468,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4114:Sult2a2
|
UTSW |
7 |
13,468,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4116:Sult2a2
|
UTSW |
7 |
13,468,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4940:Sult2a2
|
UTSW |
7 |
13,472,223 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5023:Sult2a2
|
UTSW |
7 |
13,468,785 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5510:Sult2a2
|
UTSW |
7 |
13,472,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7424:Sult2a2
|
UTSW |
7 |
13,468,822 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7569:Sult2a2
|
UTSW |
7 |
13,513,430 (GRCm39) |
missense |
probably benign |
|
|
R7800:Sult2a2
|
UTSW |
7 |
13,468,710 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8842:Sult2a2
|
UTSW |
7 |
13,472,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8948:Sult2a2
|
UTSW |
7 |
13,467,484 (GRCm39) |
start codon destroyed |
probably damaging |
0.96 |
|
R8950:Sult2a2
|
UTSW |
7 |
13,467,484 (GRCm39) |
start codon destroyed |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCACACAGACATTGTGAACACAAGTC -3'
(R):5'- GCATCACCTAGTGCATGAGAATCCC -3'
Sequencing Primer
(F):5'- CACAAGTCTGTGTGCTTGAAATTG -3'
(R):5'- ATCACTGGACACTGACCTTGG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation