Incidental Mutation 'IGL02654:Sephs1'
| ID |
302283 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sephs1
|
| Ensembl Gene |
ENSMUSG00000026662 |
| Gene Name |
selenophosphate synthetase 1 |
| Synonyms |
1110046B24Rik, SPS1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.888)
|
| Stock # |
IGL02654
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
4886375-4915368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4889366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 48
(N48I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027973]
[ENSMUST00000115019]
|
| AlphaFold |
Q8BH69 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027973
AA Change: N48I
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000027973
Gene: ENSMUSG00000026662
AA Change: N48I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AIRS
|
60 |
180 |
1.4e-11 |
PFAM |
|
Pfam:AIRS_C
|
192 |
368 |
3.6e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115019
AA Change: N48I
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110671
Gene: ENSMUSG00000026662
AA Change: N48I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AIRS
|
67 |
164 |
8.4e-13 |
PFAM |
|
Pfam:AIRS_C
|
192 |
368 |
7.8e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140045
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144565
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. [provided by RefSeq, Sep 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
C |
5: 8,977,826 (GRCm39) |
I468T |
possibly damaging |
Het |
| Actmap |
A |
G |
7: 26,903,298 (GRCm39) |
E289G |
probably damaging |
Het |
| Anxa13 |
A |
G |
15: 58,205,397 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgef33 |
A |
G |
17: 80,677,740 (GRCm39) |
Y429C |
probably damaging |
Het |
| Bdh1 |
T |
C |
16: 31,275,433 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,817,473 (GRCm39) |
|
probably benign |
Het |
| Dld |
G |
T |
12: 31,383,916 (GRCm39) |
H396N |
probably benign |
Het |
| Dsg1b |
T |
C |
18: 20,542,319 (GRCm39) |
V942A |
probably damaging |
Het |
| Eln |
A |
T |
5: 134,745,908 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,908,271 (GRCm39) |
T2577M |
possibly damaging |
Het |
| Gad1 |
A |
T |
2: 70,403,125 (GRCm39) |
K73M |
possibly damaging |
Het |
| Gipc1 |
T |
C |
8: 84,389,780 (GRCm39) |
V253A |
probably damaging |
Het |
| Gtpbp10 |
A |
C |
5: 5,593,372 (GRCm39) |
|
probably benign |
Het |
| Hgf |
A |
T |
5: 16,766,049 (GRCm39) |
T62S |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,311,161 (GRCm39) |
S1134P |
probably damaging |
Het |
| Hnrnpc |
A |
G |
14: 52,321,574 (GRCm39) |
L80S |
probably damaging |
Het |
| Kif20a |
G |
A |
18: 34,765,076 (GRCm39) |
R770H |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,401 (GRCm39) |
T374A |
possibly damaging |
Het |
| Mlana |
A |
G |
19: 29,682,018 (GRCm39) |
|
probably null |
Het |
| Nhsl3 |
C |
T |
4: 129,116,112 (GRCm39) |
G851R |
probably damaging |
Het |
| Nynrin |
A |
G |
14: 56,100,716 (GRCm39) |
I169V |
possibly damaging |
Het |
| Or2ag15 |
A |
T |
7: 106,340,555 (GRCm39) |
Y195* |
probably null |
Het |
| P3h3 |
A |
G |
6: 124,822,228 (GRCm39) |
V585A |
possibly damaging |
Het |
| Pcdhb17 |
T |
A |
18: 37,619,614 (GRCm39) |
M468K |
probably benign |
Het |
| Prl8a2 |
T |
G |
13: 27,536,780 (GRCm39) |
I134S |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,738,730 (GRCm39) |
V2828A |
probably damaging |
Het |
| Rhbdd1 |
G |
T |
1: 82,320,504 (GRCm39) |
V163F |
probably benign |
Het |
| Rrp1 |
A |
G |
10: 78,248,773 (GRCm39) |
V5A |
probably benign |
Het |
| Speer4a3 |
T |
A |
5: 26,158,205 (GRCm39) |
H49L |
probably benign |
Het |
| Vmn1r71 |
A |
G |
7: 10,482,242 (GRCm39) |
Y149H |
probably benign |
Het |
| Wiz |
T |
C |
17: 32,578,324 (GRCm39) |
D396G |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,345,015 (GRCm39) |
S2419G |
possibly damaging |
Het |
| Zfp128 |
A |
G |
7: 12,618,606 (GRCm39) |
T35A |
possibly damaging |
Het |
| Zmym2 |
T |
A |
14: 57,148,772 (GRCm39) |
F362Y |
probably damaging |
Het |
|
| Other mutations in Sephs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02525:Sephs1
|
APN |
2 |
4,911,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03202:Sephs1
|
APN |
2 |
4,894,074 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03368:Sephs1
|
APN |
2 |
4,894,080 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0022:Sephs1
|
UTSW |
2 |
4,904,371 (GRCm39) |
missense |
probably benign |
|
|
R0063:Sephs1
|
UTSW |
2 |
4,904,371 (GRCm39) |
missense |
probably benign |
|
|
R0063:Sephs1
|
UTSW |
2 |
4,904,371 (GRCm39) |
missense |
probably benign |
|
|
R0071:Sephs1
|
UTSW |
2 |
4,904,371 (GRCm39) |
missense |
probably benign |
|
|
R0071:Sephs1
|
UTSW |
2 |
4,904,371 (GRCm39) |
missense |
probably benign |
|
|
R0179:Sephs1
|
UTSW |
2 |
4,904,371 (GRCm39) |
missense |
probably benign |
|
|
R0218:Sephs1
|
UTSW |
2 |
4,904,371 (GRCm39) |
missense |
probably benign |
|
|
R0220:Sephs1
|
UTSW |
2 |
4,904,371 (GRCm39) |
missense |
probably benign |
|
|
R0378:Sephs1
|
UTSW |
2 |
4,904,371 (GRCm39) |
missense |
probably benign |
|
|
R0379:Sephs1
|
UTSW |
2 |
4,904,371 (GRCm39) |
missense |
probably benign |
|
|
R0381:Sephs1
|
UTSW |
2 |
4,904,371 (GRCm39) |
missense |
probably benign |
|
|
R0448:Sephs1
|
UTSW |
2 |
4,904,371 (GRCm39) |
missense |
probably benign |
|
|
R0634:Sephs1
|
UTSW |
2 |
4,904,371 (GRCm39) |
missense |
probably benign |
|
|
R0706:Sephs1
|
UTSW |
2 |
4,904,371 (GRCm39) |
missense |
probably benign |
|
|
R2117:Sephs1
|
UTSW |
2 |
4,904,351 (GRCm39) |
missense |
probably benign |
|
|
R4496:Sephs1
|
UTSW |
2 |
4,911,494 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4632:Sephs1
|
UTSW |
2 |
4,901,571 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5150:Sephs1
|
UTSW |
2 |
4,904,321 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5219:Sephs1
|
UTSW |
2 |
4,896,501 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5593:Sephs1
|
UTSW |
2 |
4,898,098 (GRCm39) |
missense |
probably benign |
|
|
R5628:Sephs1
|
UTSW |
2 |
4,894,018 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5716:Sephs1
|
UTSW |
2 |
4,889,389 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5852:Sephs1
|
UTSW |
2 |
4,904,339 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5864:Sephs1
|
UTSW |
2 |
4,910,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8021:Sephs1
|
UTSW |
2 |
4,911,434 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8475:Sephs1
|
UTSW |
2 |
4,893,821 (GRCm39) |
splice site |
probably null |
|
|
R8709:Sephs1
|
UTSW |
2 |
4,889,402 (GRCm39) |
missense |
probably benign |
|
|
R9376:Sephs1
|
UTSW |
2 |
4,910,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9453:Sephs1
|
UTSW |
2 |
4,889,174 (GRCm39) |
start gained |
probably benign |
|
|
R9679:Sephs1
|
UTSW |
2 |
4,898,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation