Incidental Mutation 'R5150:Sephs1'
| ID |
395281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sephs1
|
| Ensembl Gene |
ENSMUSG00000026662 |
| Gene Name |
selenophosphate synthetase 1 |
| Synonyms |
1110046B24Rik, SPS1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.908)
|
| Stock # |
R5150 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
4886375-4915368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4904321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 233
(V233E)
|
| 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: V233E
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000027973
Gene: ENSMUSG00000026662
AA Change: V233E
| 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: V233E
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110671
Gene: ENSMUSG00000026662
AA Change: V233E
| 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
|
| Meta Mutation Damage Score |
0.5961 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
93% (57/61) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam33 |
T |
C |
2: 130,895,117 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,988,268 (GRCm39) |
V3184A |
possibly damaging |
Het |
| Aoc1 |
A |
G |
6: 48,883,084 (GRCm39) |
N320S |
possibly damaging |
Het |
| Bin2 |
T |
C |
15: 100,543,244 (GRCm39) |
E313G |
probably damaging |
Het |
| Brd10 |
C |
A |
19: 29,782,950 (GRCm39) |
A109S |
probably damaging |
Het |
| C9orf72 |
A |
G |
4: 35,193,270 (GRCm39) |
S228P |
possibly damaging |
Het |
| Ccdc47 |
T |
C |
11: 106,096,265 (GRCm39) |
D253G |
possibly damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,822,384 (GRCm39) |
T778A |
probably benign |
Het |
| Cops3 |
C |
A |
11: 59,710,839 (GRCm39) |
D377Y |
probably damaging |
Het |
| Cyp4a14 |
A |
C |
4: 115,350,806 (GRCm39) |
V156G |
probably damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Disp1 |
C |
A |
1: 182,871,063 (GRCm39) |
M452I |
probably damaging |
Het |
| Fam210b |
T |
C |
2: 172,193,468 (GRCm39) |
Y94H |
probably damaging |
Het |
| Fbxo45 |
C |
A |
16: 32,065,524 (GRCm39) |
|
probably benign |
Het |
| Flrt2 |
T |
A |
12: 95,745,977 (GRCm39) |
M105K |
possibly damaging |
Het |
| Gm26558 |
G |
A |
2: 70,491,656 (GRCm39) |
|
probably benign |
Het |
| Gpr83 |
T |
G |
9: 14,772,101 (GRCm39) |
L91R |
probably damaging |
Het |
| Greb1l |
TTTAATAACTT |
TTT |
18: 10,555,950 (GRCm39) |
|
probably null |
Het |
| Hmces |
T |
A |
6: 87,910,217 (GRCm39) |
|
probably null |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Ksr2 |
A |
C |
5: 117,693,074 (GRCm39) |
E174A |
probably damaging |
Het |
| Lats1 |
A |
G |
10: 7,588,415 (GRCm39) |
T1011A |
probably benign |
Het |
| Lrrc46 |
T |
C |
11: 96,926,957 (GRCm39) |
D120G |
probably damaging |
Het |
| Ncstn |
C |
A |
1: 171,895,151 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
C |
2: 52,059,130 (GRCm39) |
T6118A |
probably benign |
Het |
| Nipsnap2 |
A |
C |
5: 129,834,175 (GRCm39) |
M272L |
probably benign |
Het |
| Nlgn2 |
C |
T |
11: 69,716,216 (GRCm39) |
R775H |
probably damaging |
Het |
| Or13c7c |
A |
G |
4: 43,836,301 (GRCm39) |
L63P |
probably damaging |
Het |
| Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
| Or4f15 |
T |
A |
2: 111,814,366 (GRCm39) |
T18S |
probably benign |
Het |
| Or4f61 |
T |
A |
2: 111,922,880 (GRCm39) |
L55F |
possibly damaging |
Het |
| Or4g17 |
T |
A |
2: 111,209,598 (GRCm39) |
D84E |
probably damaging |
Het |
| Or5b118 |
A |
T |
19: 13,448,794 (GRCm39) |
Q153H |
probably benign |
Het |
| Pold1 |
A |
G |
7: 44,185,256 (GRCm39) |
V750A |
possibly damaging |
Het |
| Prdm11 |
C |
T |
2: 92,805,817 (GRCm39) |
E378K |
probably damaging |
Het |
| Ptpn9 |
A |
G |
9: 56,943,954 (GRCm39) |
D276G |
probably benign |
Het |
| Rlf |
A |
T |
4: 121,005,369 (GRCm39) |
F1204I |
probably damaging |
Het |
| Robo1 |
C |
A |
16: 72,769,192 (GRCm39) |
T537K |
possibly damaging |
Het |
| Sec31b |
T |
A |
19: 44,508,970 (GRCm39) |
M670L |
probably benign |
Het |
| Serpinb2 |
T |
C |
1: 107,450,939 (GRCm39) |
|
probably null |
Het |
| Sf3b3 |
T |
C |
8: 111,550,008 (GRCm39) |
Q670R |
possibly damaging |
Het |
| Slc8a2 |
A |
C |
7: 15,879,101 (GRCm39) |
D529A |
possibly damaging |
Het |
| Sva |
A |
G |
6: 42,019,093 (GRCm39) |
N88D |
probably benign |
Het |
| Tcf15 |
G |
T |
2: 151,986,051 (GRCm39) |
R169L |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,572,752 (GRCm39) |
T188A |
probably benign |
Het |
| Tshz1 |
T |
A |
18: 84,031,340 (GRCm39) |
K1023* |
probably null |
Het |
| Ttc28 |
A |
G |
5: 111,373,555 (GRCm39) |
N966S |
probably damaging |
Het |
| Unc5c |
T |
A |
3: 141,463,554 (GRCm39) |
I225N |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,184,067 (GRCm39) |
L1457S |
possibly damaging |
Het |
| Zbtb34 |
G |
T |
2: 33,301,133 (GRCm39) |
H469Q |
probably damaging |
Het |
| Zfp692 |
T |
C |
11: 58,198,413 (GRCm39) |
M1T |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTACGTACATCAACATGCCCAG -3'
(R):5'- AGTCACCAGTCACGTTCTTC -3'
Sequencing Primer
(F):5'- GTACATCAACATGCCCAGTCCTG -3'
(R):5'- ATTTTGTATGACTGAAGACTTGAGG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation