Incidental Mutation 'R6407:Sult1a1'
| ID |
514494 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sult1a1
|
| Ensembl Gene |
ENSMUSG00000030711 |
| Gene Name |
sulfotransferase family 1A, phenol-preferring, member 1 |
| Synonyms |
Stp1, PST |
| MMRRC Submission |
044552-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.263)
|
| Stock # |
R6407 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126272037-126275604 bp(-) (GRCm39) |
| Type of Mutation |
splice site (1084 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 126272356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032956]
[ENSMUST00000106371]
[ENSMUST00000106372]
[ENSMUST00000106373]
[ENSMUST00000155419]
[ENSMUST00000206359]
[ENSMUST00000205507]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032956
|
| SMART Domains |
Protein: ENSMUSP00000032956
Gene: ENSMUSG00000030714
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
66 |
86 |
N/A |
INTRINSIC |
|
Pfam:DUF1325
|
158 |
288 |
5.2e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106371
|
| SMART Domains |
Protein: ENSMUSP00000101979
Gene: ENSMUSG00000030711
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
34 |
256 |
1.1e-78 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106372
|
| SMART Domains |
Protein: ENSMUSP00000101980
Gene: ENSMUSG00000030711
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
41 |
263 |
1.1e-78 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106373
AA Change: I279V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000101981
Gene: ENSMUSG00000030711
AA Change: I279V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
34 |
284 |
1.1e-89 |
PFAM |
|
Pfam:Sulfotransfer_3
|
36 |
210 |
2.9e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123382
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129786
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138794
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000155419
|
| SMART Domains |
Protein: ENSMUSP00000121514
Gene: ENSMUSG00000030711
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
34 |
121 |
6e-23 |
PFAM |
|
Pfam:Sulfotransfer_1
|
133 |
181 |
1.5e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152231
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206359
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205507
|
| Meta Mutation Damage Score |
0.6202 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decrease hepatic DNA adduct formation induced by methyleugenol. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
T |
C |
18: 65,422,809 (GRCm39) |
Y1963C |
probably benign |
Het |
| Bptf |
T |
A |
11: 107,001,952 (GRCm39) |
N387Y |
probably damaging |
Het |
| C1ql2 |
T |
C |
1: 120,269,340 (GRCm39) |
L165P |
probably damaging |
Het |
| Col5a2 |
C |
A |
1: 45,415,938 (GRCm39) |
C1403F |
probably damaging |
Het |
| Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
| Htr3a |
G |
T |
9: 48,812,355 (GRCm39) |
Y250* |
probably null |
Het |
| Ighg2c |
T |
C |
12: 113,252,271 (GRCm39) |
K94E |
unknown |
Het |
| Ighg3 |
T |
C |
12: 113,323,770 (GRCm39) |
N206S |
unknown |
Het |
| Il36rn |
A |
G |
2: 24,171,365 (GRCm39) |
Y151C |
probably damaging |
Het |
| Kif22 |
G |
A |
7: 126,632,375 (GRCm39) |
R312C |
probably damaging |
Het |
| Lap3 |
T |
A |
5: 45,669,267 (GRCm39) |
V472E |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 71,234,772 (GRCm39) |
T762A |
probably benign |
Het |
| Mfsd12 |
T |
C |
10: 81,198,067 (GRCm39) |
|
probably null |
Het |
| Mrpl39 |
T |
C |
16: 84,529,273 (GRCm39) |
K123R |
probably benign |
Het |
| Mup8 |
T |
A |
4: 60,220,394 (GRCm39) |
T113S |
possibly damaging |
Het |
| Nhp2 |
T |
C |
11: 51,510,730 (GRCm39) |
V29A |
probably benign |
Het |
| Or14a260 |
T |
C |
7: 85,985,277 (GRCm39) |
E109G |
possibly damaging |
Het |
| Pex3 |
T |
C |
10: 13,422,112 (GRCm39) |
R63G |
probably damaging |
Het |
| Pfkl |
A |
G |
10: 77,824,507 (GRCm39) |
|
probably null |
Het |
| Rims2 |
T |
C |
15: 39,315,724 (GRCm39) |
S617P |
probably damaging |
Het |
| Rnf223 |
A |
T |
4: 156,216,816 (GRCm39) |
T64S |
probably damaging |
Het |
| Rrp12 |
C |
T |
19: 41,872,181 (GRCm39) |
V432M |
probably damaging |
Het |
| Sag |
T |
C |
1: 87,742,528 (GRCm39) |
V100A |
probably benign |
Het |
| Slc17a7 |
C |
T |
7: 44,819,350 (GRCm39) |
A167V |
probably benign |
Het |
| Slc38a6 |
T |
C |
12: 73,356,949 (GRCm39) |
F115S |
probably damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,129,645 (GRCm39) |
S1122P |
probably benign |
Het |
| Spdye4a |
T |
C |
5: 143,211,454 (GRCm39) |
T37A |
probably benign |
Het |
| Sphk2 |
T |
C |
7: 45,362,024 (GRCm39) |
T138A |
possibly damaging |
Het |
| Srgap3 |
T |
C |
6: 112,699,967 (GRCm39) |
S1004G |
probably damaging |
Het |
| Tmem212 |
A |
G |
3: 27,938,988 (GRCm39) |
V166A |
probably benign |
Het |
| Tor4a |
A |
G |
2: 25,084,952 (GRCm39) |
L317P |
probably benign |
Het |
| Trim43c |
A |
T |
9: 88,722,467 (GRCm39) |
T38S |
probably benign |
Het |
| Tshz1 |
C |
A |
18: 84,034,091 (GRCm39) |
V106F |
possibly damaging |
Het |
| Tut4 |
G |
T |
4: 108,415,979 (GRCm39) |
E1648D |
probably damaging |
Het |
| Yap1 |
A |
G |
9: 7,962,373 (GRCm39) |
M225T |
possibly damaging |
Het |
| Zfp74 |
T |
C |
7: 29,635,048 (GRCm39) |
E220G |
probably damaging |
Het |
|
| Other mutations in Sult1a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01521:Sult1a1
|
APN |
7 |
126,274,451 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL03157:Sult1a1
|
APN |
7 |
126,274,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6056:Sult1a1
|
UTSW |
7 |
126,275,624 (GRCm39) |
splice site |
probably null |
|
|
R6529:Sult1a1
|
UTSW |
7 |
126,274,310 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7237:Sult1a1
|
UTSW |
7 |
126,272,622 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8255:Sult1a1
|
UTSW |
7 |
126,274,280 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8553:Sult1a1
|
UTSW |
7 |
126,273,333 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9678:Sult1a1
|
UTSW |
7 |
126,273,536 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0066:Sult1a1
|
UTSW |
7 |
126,273,578 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGATAAGACCCTCTGCCTCAG -3'
(R):5'- CCTGGATGGGCATTTGAAGTAC -3'
Sequencing Primer
(F):5'- TGCCTCAGCTACATCCCCAG -3'
(R):5'- TGGATGTAGCCAACAAAATCTTC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation