Incidental Mutation 'IGL01694:Sephs2'
ID |
104203 |
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 # |
IGL01694
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
126871051-126873227 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 126872259 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 278
(I278T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081009
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082428]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000082428
AA Change: I278T
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000081009 Gene: ENSMUSG00000049091 AA Change: I278T
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930474N05Rik |
A |
G |
14: 35,818,659 (GRCm39) |
*219W |
probably null |
Het |
Abi1 |
G |
A |
2: 22,850,725 (GRCm39) |
T238M |
probably damaging |
Het |
Agbl2 |
C |
T |
2: 90,631,418 (GRCm39) |
L259F |
probably damaging |
Het |
Cacna1g |
T |
A |
11: 94,319,938 (GRCm39) |
I1413F |
probably damaging |
Het |
Ddx21 |
T |
A |
10: 62,434,430 (GRCm39) |
K110* |
probably null |
Het |
Dnm1l |
A |
T |
16: 16,134,515 (GRCm39) |
I463N |
probably benign |
Het |
Dst |
C |
A |
1: 34,227,241 (GRCm39) |
H1286Q |
probably benign |
Het |
Elmo2 |
A |
T |
2: 165,156,693 (GRCm39) |
N67K |
probably benign |
Het |
Eps8l3 |
G |
A |
3: 107,799,624 (GRCm39) |
C578Y |
probably damaging |
Het |
Fam83b |
T |
A |
9: 76,398,272 (GRCm39) |
I944F |
probably benign |
Het |
Itga10 |
A |
T |
3: 96,559,833 (GRCm39) |
D496V |
probably damaging |
Het |
Lama2 |
T |
G |
10: 26,882,738 (GRCm39) |
K2608N |
possibly damaging |
Het |
Lap3 |
T |
A |
5: 45,655,937 (GRCm39) |
|
probably null |
Het |
Madd |
T |
C |
2: 90,988,320 (GRCm39) |
|
probably benign |
Het |
Mdh1b |
T |
A |
1: 63,750,265 (GRCm39) |
|
probably benign |
Het |
Ncapg2 |
G |
A |
12: 116,370,850 (GRCm39) |
|
probably benign |
Het |
Opalin |
A |
G |
19: 41,052,239 (GRCm39) |
|
probably benign |
Het |
Or4e2 |
A |
G |
14: 52,688,041 (GRCm39) |
N57S |
probably benign |
Het |
Plxna3 |
T |
A |
X: 73,382,114 (GRCm39) |
D1291E |
probably damaging |
Het |
Prss40 |
T |
A |
1: 34,595,178 (GRCm39) |
I101F |
probably benign |
Het |
Rpl5 |
T |
C |
5: 108,055,106 (GRCm39) |
Y253H |
probably benign |
Het |
Slc25a34 |
G |
A |
4: 141,349,564 (GRCm39) |
A197V |
probably benign |
Het |
Slco6d1 |
C |
T |
1: 98,427,570 (GRCm39) |
R634W |
probably damaging |
Het |
Smarca4 |
C |
A |
9: 21,577,166 (GRCm39) |
A871D |
probably damaging |
Het |
Speer2 |
C |
T |
16: 69,655,000 (GRCm39) |
S155N |
probably damaging |
Het |
Speer2 |
T |
A |
16: 69,655,001 (GRCm39) |
S155C |
probably damaging |
Het |
Spink12 |
T |
A |
18: 44,240,827 (GRCm39) |
V71E |
probably damaging |
Het |
Tecta |
T |
C |
9: 42,278,475 (GRCm39) |
D1011G |
possibly damaging |
Het |
Tmtc4 |
G |
A |
14: 123,210,624 (GRCm39) |
T78I |
possibly damaging |
Het |
Tub |
T |
C |
7: 108,620,243 (GRCm39) |
|
probably benign |
Het |
Vps13c |
T |
A |
9: 67,802,631 (GRCm39) |
V644D |
probably damaging |
Het |
Zfp7 |
C |
T |
15: 76,774,995 (GRCm39) |
Q346* |
probably null |
Het |
|
Other mutations in Sephs2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03006:Sephs2
|
APN |
7 |
126,872,206 (GRCm39) |
missense |
probably benign |
|
IGL03295:Sephs2
|
APN |
7 |
126,871,941 (GRCm39) |
missense |
possibly damaging |
0.60 |
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 |
2014-01-21 |