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: 0.870)
|
| 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 |
Incidental Mutation