Incidental Mutation 'IGL03295:Sephs2'
| ID |
416055 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sephs2
|
| Ensembl Gene |
ENSMUSG00000049091 |
| Gene Name |
selenophosphate synthetase 2 |
| Synonyms |
Sps2, Ysg3 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.866)
|
| Stock # |
IGL03295
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
126871051-126873227 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126871941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 384
(E384G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082428]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000082428
AA Change: E384G
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000081009
Gene: ENSMUSG00000049091
AA Change: E384G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
105 |
N/A |
INTRINSIC |
|
Pfam:AIRS
|
118 |
234 |
1e-10 |
PFAM |
|
Pfam:AIRS_C
|
246 |
421 |
2.3e-30 |
PFAM |
|
low complexity region
|
433 |
452 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206759
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine (Sec) that is co-translationally incorporated into selenoproteins at in-frame UGA codons, which normally signal translation termination. This protein itself contains a Sec residue in its predicted active site. The 3' UTR of this gene has a stem-loop secondary structure called a selenocysteine insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
T |
5: 99,390,915 (GRCm39) |
|
probably benign |
Het |
| Adamts5 |
T |
C |
16: 85,674,833 (GRCm39) |
T444A |
probably damaging |
Het |
| Aldh18a1 |
T |
C |
19: 40,551,386 (GRCm39) |
E522G |
probably damaging |
Het |
| Bbx |
T |
C |
16: 50,044,927 (GRCm39) |
T437A |
probably damaging |
Het |
| Bsx |
A |
G |
9: 40,785,743 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,977,769 (GRCm39) |
N729S |
probably benign |
Het |
| Cdk1 |
G |
T |
10: 69,178,373 (GRCm39) |
H162Q |
possibly damaging |
Het |
| Chrac1 |
A |
G |
15: 72,965,445 (GRCm39) |
|
probably benign |
Het |
| Cip2a |
T |
C |
16: 48,814,704 (GRCm39) |
S22P |
probably damaging |
Het |
| Ddx60 |
A |
T |
8: 62,409,155 (GRCm39) |
D397V |
possibly damaging |
Het |
| Edn2 |
T |
A |
4: 120,019,178 (GRCm39) |
C56S |
probably damaging |
Het |
| Gm4952 |
T |
C |
19: 12,595,691 (GRCm39) |
V27A |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,303,985 (GRCm39) |
S763T |
possibly damaging |
Het |
| Hspd1 |
G |
A |
1: 55,119,334 (GRCm39) |
T381I |
probably benign |
Het |
| Krt1c |
T |
A |
15: 101,724,864 (GRCm39) |
I249F |
probably damaging |
Het |
| Lman2l |
T |
C |
1: 36,477,892 (GRCm39) |
D148G |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 40,568,999 (GRCm39) |
|
probably null |
Het |
| Mier3 |
C |
A |
13: 111,840,215 (GRCm39) |
T51K |
probably benign |
Het |
| Ppp1r36 |
C |
T |
12: 76,485,192 (GRCm39) |
P305L |
probably damaging |
Het |
| Pramel27 |
G |
A |
4: 143,579,759 (GRCm39) |
C448Y |
probably damaging |
Het |
| Prdm1 |
T |
C |
10: 44,315,866 (GRCm39) |
I790V |
probably damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,479,714 (GRCm39) |
W1466R |
probably damaging |
Het |
| Snai2 |
T |
C |
16: 14,524,638 (GRCm39) |
L48P |
possibly damaging |
Het |
| Stt3a |
A |
G |
9: 36,674,627 (GRCm39) |
|
probably null |
Het |
| Synj1 |
T |
A |
16: 90,735,318 (GRCm39) |
N1545I |
probably benign |
Het |
| Vav2 |
A |
T |
2: 27,165,041 (GRCm39) |
S607T |
possibly damaging |
Het |
| Wdr27 |
T |
C |
17: 15,154,837 (GRCm39) |
K27E |
possibly damaging |
Het |
| Xcl1 |
A |
T |
1: 164,763,004 (GRCm39) |
V19E |
unknown |
Het |
| Xlr3c |
A |
T |
X: 72,301,240 (GRCm39) |
|
probably null |
Het |
| Zbtb44 |
T |
A |
9: 30,964,753 (GRCm39) |
D54E |
probably benign |
Het |
| Zscan21 |
A |
G |
5: 138,123,540 (GRCm39) |
D73G |
possibly damaging |
Het |
|
| Other mutations in Sephs2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01694:Sephs2
|
APN |
7 |
126,872,259 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL03006:Sephs2
|
APN |
7 |
126,872,206 (GRCm39) |
missense |
probably benign |
|
|
R1381:Sephs2
|
UTSW |
7 |
126,872,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2259:Sephs2
|
UTSW |
7 |
126,872,649 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4876:Sephs2
|
UTSW |
7 |
126,872,219 (GRCm39) |
nonsense |
probably null |
|
|
R5054:Sephs2
|
UTSW |
7 |
126,872,564 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5432:Sephs2
|
UTSW |
7 |
126,872,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6197:Sephs2
|
UTSW |
7 |
126,872,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6237:Sephs2
|
UTSW |
7 |
126,873,118 (GRCm39) |
start gained |
probably benign |
|
|
R7138:Sephs2
|
UTSW |
7 |
126,872,187 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7181:Sephs2
|
UTSW |
7 |
126,872,992 (GRCm39) |
missense |
probably benign |
|
|
R7601:Sephs2
|
UTSW |
7 |
126,872,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7685:Sephs2
|
UTSW |
7 |
126,872,506 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8941:Sephs2
|
UTSW |
7 |
126,872,206 (GRCm39) |
missense |
probably benign |
|
|
R9263:Sephs2
|
UTSW |
7 |
126,872,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9526:Sephs2
|
UTSW |
7 |
126,872,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0061:Sephs2
|
UTSW |
7 |
126,872,727 (GRCm39) |
missense |
probably benign |
0.35 |
|
| Posted On |
2016-08-02 |
Incidental Mutation