Incidental Mutation 'R5852:Sephs1'
ID |
454709 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sephs1
|
Ensembl Gene |
ENSMUSG00000026662 |
Gene Name |
selenophosphate synthetase 1 |
Synonyms |
1110046B24Rik, SPS1 |
MMRRC Submission |
043227-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.888)
|
Stock # |
R5852 (G1)
|
Quality Score |
207 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
4886375-4915368 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4904339 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 239
(E239G)
|
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: E239G
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000027973 Gene: ENSMUSG00000026662 AA Change: E239G
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: E239G
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000110671 Gene: ENSMUSG00000026662 AA Change: E239G
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
T |
A |
12: 118,891,139 (GRCm39) |
I453F |
probably damaging |
Het |
Anpep |
C |
T |
7: 79,488,720 (GRCm39) |
W402* |
probably null |
Het |
Apcdd1 |
T |
C |
18: 63,070,134 (GRCm39) |
S134P |
probably damaging |
Het |
Ccdc154 |
T |
C |
17: 25,382,183 (GRCm39) |
V34A |
probably benign |
Het |
Cntn3 |
A |
T |
6: 102,397,377 (GRCm39) |
N65K |
probably damaging |
Het |
Cntn6 |
G |
T |
6: 104,812,706 (GRCm39) |
V663F |
probably damaging |
Het |
Crisp3 |
A |
T |
17: 40,536,711 (GRCm39) |
C201* |
probably null |
Het |
Dnhd1 |
T |
A |
7: 105,344,955 (GRCm39) |
W2100R |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 7,011,290 (GRCm39) |
S3634R |
probably benign |
Het |
Entrep2 |
T |
A |
7: 64,425,579 (GRCm39) |
H171L |
probably damaging |
Het |
Gucy1a2 |
T |
C |
9: 3,865,460 (GRCm39) |
F645L |
probably damaging |
Het |
Hs6st3 |
G |
T |
14: 120,106,738 (GRCm39) |
R382L |
probably damaging |
Het |
Il27 |
T |
A |
7: 126,191,786 (GRCm39) |
T89S |
possibly damaging |
Het |
Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
Klhl23 |
T |
A |
2: 69,654,613 (GRCm39) |
I161N |
probably benign |
Het |
Lrrk2 |
G |
A |
15: 91,640,152 (GRCm39) |
E1566K |
probably damaging |
Het |
Mia3 |
A |
G |
1: 183,113,713 (GRCm39) |
V437A |
probably benign |
Het |
Ncoa6 |
G |
T |
2: 155,247,419 (GRCm39) |
H1962N |
possibly damaging |
Het |
Nox4 |
C |
T |
7: 86,988,172 (GRCm39) |
T361I |
probably damaging |
Het |
Pappa2 |
T |
C |
1: 158,544,584 (GRCm39) |
Y1748C |
probably damaging |
Het |
Phyhip |
T |
C |
14: 70,699,369 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
A |
G |
1: 20,447,632 (GRCm39) |
F2254L |
probably benign |
Het |
Plxnb1 |
A |
G |
9: 108,935,518 (GRCm39) |
Y1018C |
probably damaging |
Het |
Pnoc |
C |
T |
14: 65,648,671 (GRCm39) |
V8I |
probably benign |
Het |
Prss29 |
A |
G |
17: 25,541,408 (GRCm39) |
D256G |
probably benign |
Het |
Scrn3 |
T |
C |
2: 73,161,349 (GRCm39) |
F312L |
probably damaging |
Het |
Tti1 |
A |
G |
2: 157,842,593 (GRCm39) |
L812P |
probably damaging |
Het |
Wdr1 |
A |
G |
5: 38,694,518 (GRCm39) |
S62P |
probably benign |
Het |
Zfp106 |
A |
G |
2: 120,346,487 (GRCm39) |
S1659P |
probably damaging |
Het |
Zng1 |
A |
G |
19: 24,932,769 (GRCm39) |
V88A |
possibly 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 |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATCAACATGCCCAGTCCTG -3'
(R):5'- AGTCACCAGTCACGTTCTTC -3'
Sequencing Primer
(F):5'- CTGGAAGATGACTAGGAAAAGTATTC -3'
(R):5'- ATTTTGTATGACTGAAGACTTGAGG -3'
|
Posted On |
2017-02-10 |