Incidental Mutation 'IGL03368:Sephs1'
| ID |
420183 |
| 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 # |
IGL03368
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
4886375-4915368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4894080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 94
(D94N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027973]
[ENSMUST00000115019]
|
| AlphaFold |
Q8BH69 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027973
AA Change: D94N
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000027973
Gene: ENSMUSG00000026662
AA Change: D94N
| 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 |
possibly damaging
Transcript: ENSMUST00000115019
AA Change: D94N
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110671
Gene: ENSMUSG00000026662
AA Change: D94N
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530053G22Rik |
T |
C |
6: 60,380,530 (GRCm39) |
|
noncoding transcript |
Het |
| Abca5 |
A |
G |
11: 110,204,348 (GRCm39) |
|
probably benign |
Het |
| Agxt2 |
T |
A |
15: 10,388,256 (GRCm39) |
C278* |
probably null |
Het |
| Ankar |
A |
G |
1: 72,714,972 (GRCm39) |
L384P |
probably damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,455,090 (GRCm39) |
|
probably benign |
Het |
| Ap5m1 |
A |
G |
14: 49,318,593 (GRCm39) |
|
probably benign |
Het |
| Arhgap18 |
C |
T |
10: 26,648,689 (GRCm39) |
S37F |
possibly damaging |
Het |
| Btnl10 |
G |
A |
11: 58,810,212 (GRCm39) |
V118I |
possibly damaging |
Het |
| Chst11 |
C |
A |
10: 82,927,980 (GRCm39) |
P66T |
probably benign |
Het |
| Cited2 |
C |
A |
10: 17,599,944 (GRCm39) |
P84Q |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,251,857 (GRCm39) |
V1914A |
probably benign |
Het |
| Dpy19l4 |
T |
A |
4: 11,290,253 (GRCm39) |
I302F |
possibly damaging |
Het |
| Ece2 |
A |
G |
16: 20,462,908 (GRCm39) |
E640G |
possibly damaging |
Het |
| Fam184b |
T |
C |
5: 45,689,166 (GRCm39) |
D890G |
possibly damaging |
Het |
| Fam227b |
A |
T |
2: 125,960,983 (GRCm39) |
D215E |
probably damaging |
Het |
| Foxp2 |
A |
G |
6: 15,394,717 (GRCm39) |
K139R |
probably damaging |
Het |
| Gle1 |
T |
C |
2: 29,833,805 (GRCm39) |
C401R |
probably damaging |
Het |
| Gp2 |
A |
T |
7: 119,052,097 (GRCm39) |
C206S |
probably damaging |
Het |
| Hdgfl2 |
G |
T |
17: 56,386,746 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,539,623 (GRCm39) |
N2956S |
probably damaging |
Het |
| Ifi209 |
A |
G |
1: 173,470,057 (GRCm39) |
Q215R |
possibly damaging |
Het |
| Il20rb |
C |
T |
9: 100,341,174 (GRCm39) |
|
probably benign |
Het |
| Katnip |
T |
C |
7: 125,468,030 (GRCm39) |
|
probably benign |
Het |
| Kif26b |
A |
C |
1: 178,743,773 (GRCm39) |
S1290R |
probably damaging |
Het |
| Mical1 |
A |
G |
10: 41,355,625 (GRCm39) |
I156M |
probably damaging |
Het |
| Nbas |
C |
T |
12: 13,378,452 (GRCm39) |
A613V |
probably benign |
Het |
| Nbea |
C |
T |
3: 55,987,351 (GRCm39) |
V380M |
probably damaging |
Het |
| Nutf2 |
T |
C |
8: 106,602,232 (GRCm39) |
F14S |
probably damaging |
Het |
| Or4c35 |
A |
T |
2: 89,808,133 (GRCm39) |
I4L |
probably benign |
Het |
| Or52r1b |
T |
A |
7: 102,690,972 (GRCm39) |
H95Q |
possibly damaging |
Het |
| Parp1 |
A |
G |
1: 180,408,187 (GRCm39) |
E236G |
probably benign |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Ptcd2 |
T |
A |
13: 99,466,577 (GRCm39) |
|
probably benign |
Het |
| Pygl |
T |
C |
12: 70,237,926 (GRCm39) |
Q704R |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,563,311 (GRCm39) |
S492T |
possibly damaging |
Het |
| Slc22a29 |
A |
C |
19: 8,184,626 (GRCm39) |
|
probably null |
Het |
| Slc22a8 |
G |
T |
19: 8,586,483 (GRCm39) |
|
probably benign |
Het |
| Slfn5 |
A |
G |
11: 82,847,211 (GRCm39) |
D32G |
possibly damaging |
Het |
| Sphkap |
T |
A |
1: 83,253,397 (GRCm39) |
T1451S |
probably benign |
Het |
| Srp54a |
A |
C |
12: 55,138,051 (GRCm39) |
E63A |
probably null |
Het |
| Stap1 |
T |
A |
5: 86,238,827 (GRCm39) |
I165N |
probably damaging |
Het |
| Terf2 |
T |
C |
8: 107,797,181 (GRCm39) |
E494G |
probably damaging |
Het |
| Trak1 |
C |
A |
9: 121,196,188 (GRCm39) |
L7I |
possibly damaging |
Het |
| Twnk |
T |
C |
19: 44,998,931 (GRCm39) |
V557A |
probably damaging |
Het |
| U2af2 |
T |
A |
7: 5,070,263 (GRCm39) |
|
probably benign |
Het |
| Ube2j1 |
T |
A |
4: 33,038,317 (GRCm39) |
I75N |
probably damaging |
Het |
| Ubr5 |
A |
G |
15: 37,998,560 (GRCm39) |
V1643A |
probably damaging |
Het |
| Vsx2 |
A |
G |
12: 84,617,074 (GRCm39) |
T120A |
probably benign |
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 |
|
IGL02654:Sephs1
|
APN |
2 |
4,889,366 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL03202:Sephs1
|
APN |
2 |
4,894,074 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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 |
2016-08-02 |
Incidental Mutation