Incidental Mutation 'R0069:Sult1e1'
| ID |
17128 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sult1e1
|
| Ensembl Gene |
ENSMUSG00000029272 |
| Gene Name |
sulfotransferase family 1E, member 1 |
| Synonyms |
EST, Ste |
| MMRRC Submission |
038360-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R0069 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
87723828-87739453 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87727756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 175
(H175Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031201]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031201
AA Change: H175Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031201
Gene: ENSMUSG00000029272
AA Change: H175Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
38 |
288 |
1.1e-91 |
PFAM |
|
| Meta Mutation Damage Score |
0.9094 |
| Coding Region Coverage |
- 1x: 86.4%
- 3x: 80.4%
- 10x: 57.4%
- 20x: 26.1%
|
| Validation Efficiency |
94% (60/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that transfers a sulfo moiety to and from estrone, which may control levels of estrogen receptors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit reduced fertility. Males exhibit abnormal testis morphology with Leydig cell hypertrophy and hyperplasia and reduced caudal sperm motility. Spontaneous fetal loss caused by placental thrombosis occurs in pregnant females. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,538,525 (GRCm39) |
C632S |
probably damaging |
Het |
| Ccnb1ip1 |
G |
A |
14: 81,519,382 (GRCm38) |
Q322* |
probably null |
Het |
| Cd101 |
A |
G |
3: 100,915,533 (GRCm39) |
V678A |
probably benign |
Het |
| Creb1 |
A |
G |
1: 64,615,367 (GRCm39) |
I240V |
possibly damaging |
Het |
| Dctn2 |
A |
T |
10: 127,113,354 (GRCm39) |
|
probably null |
Het |
| Diablo |
A |
T |
5: 123,656,087 (GRCm39) |
S117R |
probably damaging |
Het |
| Ebf2 |
A |
T |
14: 67,647,499 (GRCm39) |
R349S |
probably damaging |
Het |
| Gne |
A |
C |
4: 44,060,099 (GRCm39) |
V98G |
probably damaging |
Het |
| Ints3 |
A |
G |
3: 90,307,954 (GRCm39) |
|
probably benign |
Het |
| Itgal |
A |
G |
7: 126,909,503 (GRCm39) |
T56A |
probably benign |
Het |
| Lzts3 |
T |
A |
2: 130,478,460 (GRCm39) |
T213S |
probably benign |
Het |
| Myo1d |
A |
G |
11: 80,528,779 (GRCm39) |
I681T |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 80,968,871 (GRCm39) |
|
probably benign |
Het |
| Pole2 |
A |
T |
12: 69,256,661 (GRCm39) |
V288E |
probably damaging |
Het |
| Poteg |
T |
C |
8: 27,937,849 (GRCm39) |
S2P |
probably benign |
Het |
| Ppp2r5c |
A |
T |
12: 110,534,204 (GRCm39) |
M356L |
probably benign |
Het |
| Rad54l2 |
C |
A |
9: 106,587,564 (GRCm39) |
V734L |
possibly damaging |
Het |
| Ryr1 |
A |
C |
7: 28,809,930 (GRCm39) |
|
probably benign |
Het |
| Slfn10-ps |
A |
G |
11: 82,926,368 (GRCm39) |
|
noncoding transcript |
Het |
| Trgv7 |
A |
G |
13: 19,362,592 (GRCm39) |
R94G |
probably benign |
Het |
| Ube2e3 |
C |
A |
2: 78,750,293 (GRCm39) |
|
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,789,133 (GRCm39) |
I746T |
probably benign |
Het |
| Xpnpep3 |
T |
C |
15: 81,314,999 (GRCm39) |
V233A |
probably benign |
Het |
| Zfp329 |
A |
T |
7: 12,544,859 (GRCm39) |
S222T |
probably damaging |
Het |
| Zswim6 |
T |
C |
13: 107,875,098 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Sult1e1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01504:Sult1e1
|
APN |
5 |
87,724,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01588:Sult1e1
|
APN |
5 |
87,724,102 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02685:Sult1e1
|
APN |
5 |
87,727,765 (GRCm39) |
nonsense |
probably null |
|
|
IGL03083:Sult1e1
|
APN |
5 |
87,737,983 (GRCm39) |
missense |
probably benign |
|
|
IGL03137:Sult1e1
|
APN |
5 |
87,726,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03217:Sult1e1
|
APN |
5 |
87,737,947 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0069:Sult1e1
|
UTSW |
5 |
87,727,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0456:Sult1e1
|
UTSW |
5 |
87,726,493 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1446:Sult1e1
|
UTSW |
5 |
87,726,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1953:Sult1e1
|
UTSW |
5 |
87,735,530 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2697:Sult1e1
|
UTSW |
5 |
87,726,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4791:Sult1e1
|
UTSW |
5 |
87,734,589 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4799:Sult1e1
|
UTSW |
5 |
87,738,027 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5103:Sult1e1
|
UTSW |
5 |
87,724,091 (GRCm39) |
missense |
probably benign |
|
|
R5158:Sult1e1
|
UTSW |
5 |
87,735,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5219:Sult1e1
|
UTSW |
5 |
87,726,445 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6148:Sult1e1
|
UTSW |
5 |
87,727,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6530:Sult1e1
|
UTSW |
5 |
87,724,147 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6866:Sult1e1
|
UTSW |
5 |
87,734,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7295:Sult1e1
|
UTSW |
5 |
87,726,512 (GRCm39) |
nonsense |
probably null |
|
|
R8812:Sult1e1
|
UTSW |
5 |
87,735,501 (GRCm39) |
missense |
probably benign |
|
|
R8890:Sult1e1
|
UTSW |
5 |
87,727,719 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9071:Sult1e1
|
UTSW |
5 |
87,735,681 (GRCm39) |
intron |
probably benign |
|
|
R9252:Sult1e1
|
UTSW |
5 |
87,737,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-01-20 |
Incidental Mutation