Incidental Mutation 'R1251:Sult2a8'
| ID |
151753 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sult2a8
|
| Ensembl Gene |
ENSMUSG00000030378 |
| Gene Name |
sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 8 |
| Synonyms |
2810007J24Rik, mL-STL |
| MMRRC Submission |
039318-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R1251 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
14144611-14180694 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 14159350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 90
(K90*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148036
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063509]
[ENSMUST00000125941]
[ENSMUST00000168252]
[ENSMUST00000209425]
[ENSMUST00000209972]
[ENSMUST00000210396]
[ENSMUST00000211800]
|
| AlphaFold |
Q8BGL3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000063509
AA Change: K90*
|
| SMART Domains |
Protein: ENSMUSP00000066897
Gene: ENSMUSG00000030378
AA Change: K90*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
34 |
275 |
1.6e-73 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000125941
AA Change: K90*
|
| SMART Domains |
Protein: ENSMUSP00000116469
Gene: ENSMUSG00000030378
AA Change: K90*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
34 |
189 |
4e-47 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000168252
AA Change: K90*
|
| SMART Domains |
Protein: ENSMUSP00000128428
Gene: ENSMUSG00000030378
AA Change: K90*
| 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 null
Transcript: ENSMUST00000209425
AA Change: K90*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209972
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210366
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000210396
AA Change: K90*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211800
AA Change: K90*
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Acap2 |
A |
T |
16: 30,926,989 (GRCm39) |
Y509N |
probably damaging |
Het |
| Adcy9 |
T |
A |
16: 4,129,395 (GRCm39) |
E497V |
probably damaging |
Het |
| Bcat2 |
T |
G |
7: 45,225,410 (GRCm39) |
L56R |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,498,370 (GRCm39) |
M952V |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cfap46 |
C |
T |
7: 139,181,181 (GRCm39) |
V2607I |
probably benign |
Het |
| Clec18a |
T |
C |
8: 111,808,270 (GRCm39) |
I54V |
possibly damaging |
Het |
| Coil |
A |
G |
11: 88,873,125 (GRCm39) |
E455G |
possibly damaging |
Het |
| Copg1 |
A |
T |
6: 87,866,989 (GRCm39) |
K75* |
probably null |
Het |
| Cyp2j12 |
G |
A |
4: 96,003,903 (GRCm39) |
Q238* |
probably null |
Het |
| Eif3i |
T |
C |
4: 129,487,178 (GRCm39) |
E229G |
probably damaging |
Het |
| Exoc2 |
T |
A |
13: 31,070,259 (GRCm39) |
N411Y |
probably benign |
Het |
| Eya2 |
T |
A |
2: 165,596,404 (GRCm39) |
M305K |
probably damaging |
Het |
| Faim |
C |
T |
9: 98,874,687 (GRCm39) |
T78M |
probably damaging |
Het |
| Fgg |
T |
A |
3: 82,920,287 (GRCm39) |
D355E |
probably benign |
Het |
| Foxn1 |
A |
G |
11: 78,249,611 (GRCm39) |
L638P |
probably damaging |
Het |
| Grid2ip |
A |
T |
5: 143,371,770 (GRCm39) |
E664D |
possibly damaging |
Het |
| Il1rn |
A |
G |
2: 24,235,582 (GRCm39) |
R21G |
probably damaging |
Het |
| Ilrun |
C |
T |
17: 28,005,044 (GRCm39) |
|
probably null |
Het |
| Inpp4b |
G |
A |
8: 82,617,382 (GRCm39) |
G220R |
probably benign |
Het |
| Irx6 |
A |
G |
8: 93,404,881 (GRCm39) |
S250G |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,809,068 (GRCm39) |
I246T |
probably benign |
Het |
| Mcm3 |
G |
A |
1: 20,882,896 (GRCm39) |
Q353* |
probably null |
Het |
| Mfhas1 |
A |
G |
8: 36,058,207 (GRCm39) |
Y894C |
probably damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,360,492 (GRCm39) |
L348P |
probably damaging |
Het |
| Necab1 |
A |
G |
4: 15,111,192 (GRCm39) |
|
probably null |
Het |
| Nectin3 |
A |
T |
16: 46,284,205 (GRCm39) |
S160T |
possibly damaging |
Het |
| Npc2 |
A |
G |
12: 84,807,658 (GRCm39) |
S67P |
probably damaging |
Het |
| Or5e1 |
T |
G |
7: 108,354,114 (GRCm39) |
F17C |
probably damaging |
Het |
| Or5m9b |
G |
A |
2: 85,905,164 (GRCm39) |
V27M |
probably benign |
Het |
| Pcnx3 |
A |
G |
19: 5,727,210 (GRCm39) |
F1108L |
probably benign |
Het |
| Phf21a |
G |
A |
2: 92,189,544 (GRCm39) |
S601N |
probably benign |
Het |
| Pold1 |
C |
T |
7: 44,184,475 (GRCm39) |
V842I |
probably benign |
Het |
| Rabgap1 |
A |
G |
2: 37,433,246 (GRCm39) |
|
probably null |
Het |
| Setd1a |
T |
A |
7: 127,396,596 (GRCm39) |
|
probably benign |
Het |
| Sgo2a |
A |
T |
1: 58,039,121 (GRCm39) |
|
probably null |
Het |
| Tlr2 |
T |
C |
3: 83,745,576 (GRCm39) |
D169G |
possibly damaging |
Het |
| Tmem95 |
A |
G |
11: 69,767,655 (GRCm39) |
F153S |
probably benign |
Het |
| Tube1 |
G |
T |
10: 39,010,204 (GRCm39) |
G10* |
probably null |
Het |
| Vmn2r10 |
T |
C |
5: 109,143,890 (GRCm39) |
M687V |
probably benign |
Het |
| Zc3h8 |
G |
A |
2: 128,777,289 (GRCm39) |
P117S |
probably benign |
Het |
| Zeb1 |
T |
A |
18: 5,705,089 (GRCm39) |
D18E |
probably 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 |
|
IGL02663:Sult2a8
|
APN |
7 |
14,159,368 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCCCATGACAAGGGTAGACAAGGTA -3'
(R):5'- CTGTTGAAATGGCTGACCAGTTTTCC -3'
Sequencing Primer
(F):5'- ccagcacaactacaaagcatc -3'
(R):5'- CTTTTCATTCAGGAACCCACTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation