Incidental Mutation 'IGL02663:Sult2a8'
| ID |
302628 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sult2a8
|
| Ensembl Gene |
ENSMUSG00000030378 |
| Gene Name |
sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 8 |
| Synonyms |
2810007J24Rik, mL-STL |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL02663
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
14144611-14180694 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14159368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 84
(Y84H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128428
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063509]
[ENSMUST00000125941]
[ENSMUST00000168252]
[ENSMUST00000209425]
[ENSMUST00000209972]
[ENSMUST00000210396]
[ENSMUST00000211800]
|
| AlphaFold |
Q8BGL3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063509
AA Change: Y84H
PolyPhen 2
Score 0.523 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000066897
Gene: ENSMUSG00000030378
AA Change: Y84H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
34 |
275 |
1.6e-73 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125941
AA Change: Y84H
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000116469
Gene: ENSMUSG00000030378
AA Change: Y84H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
34 |
189 |
4e-47 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168252
AA Change: Y84H
PolyPhen 2
Score 0.523 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128428
Gene: ENSMUSG00000030378
AA Change: Y84H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
34 |
275 |
1.6e-73 |
PFAM |
|
Pfam:Sulfotransfer_3
|
36 |
205 |
6.3e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209425
AA Change: Y84H
PolyPhen 2
Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209972
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210366
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210396
AA Change: Y84H
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211800
AA Change: Y84H
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl9 |
A |
C |
3: 97,112,648 (GRCm39) |
F1269C |
probably damaging |
Het |
| Cdc20b |
T |
A |
13: 113,192,665 (GRCm39) |
|
probably null |
Het |
| Chrna1 |
A |
G |
2: 73,404,660 (GRCm39) |
|
probably benign |
Het |
| Creb5 |
A |
G |
6: 53,657,946 (GRCm39) |
H236R |
probably damaging |
Het |
| Cyp17a1 |
A |
G |
19: 46,661,005 (GRCm39) |
F93S |
probably damaging |
Het |
| Cyp4a32 |
T |
A |
4: 115,467,787 (GRCm39) |
L257H |
probably damaging |
Het |
| Dnai3 |
A |
T |
3: 145,760,312 (GRCm39) |
M692K |
possibly damaging |
Het |
| Fahd1 |
C |
T |
17: 25,068,478 (GRCm39) |
G200R |
probably damaging |
Het |
| Ifit1 |
A |
G |
19: 34,618,380 (GRCm39) |
|
probably benign |
Het |
| Mfhas1 |
G |
T |
8: 36,057,060 (GRCm39) |
V512L |
probably damaging |
Het |
| Myh13 |
C |
T |
11: 67,245,753 (GRCm39) |
Q1095* |
probably null |
Het |
| Nfia |
A |
G |
4: 97,929,856 (GRCm39) |
T339A |
probably benign |
Het |
| Npas3 |
T |
C |
12: 54,115,691 (GRCm39) |
L840P |
probably damaging |
Het |
| Nsf |
T |
C |
11: 103,821,641 (GRCm39) |
T2A |
probably benign |
Het |
| Or11g7 |
A |
G |
14: 50,691,309 (GRCm39) |
T267A |
probably benign |
Het |
| Or14j10 |
A |
T |
17: 37,934,935 (GRCm39) |
I197K |
probably benign |
Het |
| Or5b111 |
A |
G |
19: 13,290,743 (GRCm39) |
V302A |
probably benign |
Het |
| P2rx2 |
C |
T |
5: 110,488,115 (GRCm39) |
E480K |
possibly damaging |
Het |
| P2rx2 |
G |
T |
5: 110,488,052 (GRCm39) |
|
probably null |
Het |
| Ppp1r8 |
G |
A |
4: 132,560,419 (GRCm39) |
T94I |
probably damaging |
Het |
| S100a11 |
A |
T |
3: 93,431,464 (GRCm39) |
E33D |
probably damaging |
Het |
| Sec31b |
C |
A |
19: 44,522,717 (GRCm39) |
A92S |
probably damaging |
Het |
| Serpina3g |
C |
T |
12: 104,205,399 (GRCm39) |
T46I |
possibly damaging |
Het |
| Sgo2b |
A |
T |
8: 64,396,148 (GRCm39) |
I36N |
probably damaging |
Het |
| Slc35e1 |
A |
G |
8: 73,242,053 (GRCm39) |
L223P |
probably damaging |
Het |
| St14 |
T |
C |
9: 31,011,678 (GRCm39) |
|
probably null |
Het |
| Tas1r2 |
T |
C |
4: 139,387,593 (GRCm39) |
Y322H |
probably benign |
Het |
| Tmem59 |
T |
C |
4: 107,054,738 (GRCm39) |
L181P |
probably damaging |
Het |
| Trp73 |
A |
G |
4: 154,146,963 (GRCm39) |
|
probably null |
Het |
| Ube2h |
A |
G |
6: 30,241,412 (GRCm39) |
V86A |
probably damaging |
Het |
| Vmn2r22 |
A |
T |
6: 123,626,117 (GRCm39) |
H106Q |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,339,802 (GRCm39) |
V681A |
possibly damaging |
Het |
|
| Other mutations in Sult2a8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01558:Sult2a8
|
APN |
7 |
14,159,377 (GRCm39) |
nonsense |
probably null |
|
|
IGL01904:Sult2a8
|
APN |
7 |
14,159,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02060:Sult2a8
|
APN |
7 |
14,159,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02532:Sult2a8
|
APN |
7 |
14,150,183 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02803:Sult2a8
|
APN |
7 |
14,145,630 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1070:Sult2a8
|
UTSW |
7 |
14,147,698 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1251:Sult2a8
|
UTSW |
7 |
14,159,350 (GRCm39) |
nonsense |
probably null |
|
|
R1465:Sult2a8
|
UTSW |
7 |
14,150,208 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1465:Sult2a8
|
UTSW |
7 |
14,150,208 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1799:Sult2a8
|
UTSW |
7 |
14,157,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2196:Sult2a8
|
UTSW |
7 |
14,161,778 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4233:Sult2a8
|
UTSW |
7 |
14,147,608 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4713:Sult2a8
|
UTSW |
7 |
14,159,402 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4964:Sult2a8
|
UTSW |
7 |
14,159,457 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5114:Sult2a8
|
UTSW |
7 |
14,147,584 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5330:Sult2a8
|
UTSW |
7 |
14,147,679 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5439:Sult2a8
|
UTSW |
7 |
14,159,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5662:Sult2a8
|
UTSW |
7 |
14,161,765 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7353:Sult2a8
|
UTSW |
7 |
14,147,640 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7366:Sult2a8
|
UTSW |
7 |
14,150,254 (GRCm39) |
splice site |
probably null |
|
|
R7832:Sult2a8
|
UTSW |
7 |
14,147,596 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9499:Sult2a8
|
UTSW |
7 |
14,157,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation