Incidental Mutation 'R0022:Sephs1'
| ID |
15239 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sephs1
|
| Ensembl Gene |
ENSMUSG00000026662 |
| Gene Name |
selenophosphate synthetase 1 |
| Synonyms |
1110046B24Rik, SPS1 |
| MMRRC Submission |
038317-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.908)
|
| Stock # |
R0022 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
4886375-4915368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4904371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 250
(T250A)
|
| 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: T250A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027973
Gene: ENSMUSG00000026662
AA Change: T250A
| 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: T250A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110671
Gene: ENSMUSG00000026662
AA Change: T250A
| 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 |
0.0952 |
| Coding Region Coverage |
- 1x: 82.0%
- 3x: 74.9%
- 10x: 56.1%
- 20x: 37.0%
|
| Validation Efficiency |
97% (90/93) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aste1 |
T |
A |
9: 105,273,823 (GRCm39) |
L21* |
probably null |
Het |
| Btbd10 |
G |
A |
7: 112,924,988 (GRCm39) |
Q287* |
probably null |
Het |
| Cd244a |
A |
G |
1: 171,401,330 (GRCm39) |
D48G |
probably benign |
Het |
| Cdc20 |
T |
A |
4: 118,292,686 (GRCm39) |
H354L |
probably damaging |
Het |
| Cdhr3 |
G |
A |
12: 33,132,263 (GRCm39) |
T120I |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,470,312 (GRCm39) |
S433T |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col9a3 |
A |
G |
2: 180,261,549 (GRCm39) |
D613G |
probably damaging |
Het |
| Coro7 |
C |
T |
16: 4,451,168 (GRCm39) |
R507H |
probably benign |
Het |
| Cracdl |
C |
T |
1: 37,667,326 (GRCm39) |
R240Q |
probably damaging |
Het |
| Csf1 |
A |
T |
3: 107,661,178 (GRCm39) |
V113E |
probably damaging |
Het |
| Dclre1b |
G |
T |
3: 103,710,464 (GRCm39) |
H482Q |
probably benign |
Het |
| Ephb6 |
T |
C |
6: 41,591,503 (GRCm39) |
V220A |
probably damaging |
Het |
| Ggct |
C |
A |
6: 54,962,887 (GRCm39) |
E175* |
probably null |
Het |
| Gm5316 |
T |
C |
6: 122,877,354 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmn |
A |
G |
14: 56,404,382 (GRCm39) |
S152P |
probably damaging |
Het |
| Hoxa7 |
T |
C |
6: 52,194,363 (GRCm39) |
N8S |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,275,903 (GRCm39) |
F630S |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,783,657 (GRCm39) |
N378S |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,888,050 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,671,355 (GRCm39) |
V1194D |
probably damaging |
Het |
| Mc5r |
T |
G |
18: 68,471,853 (GRCm39) |
S71A |
probably benign |
Het |
| Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
| Naa25 |
C |
A |
5: 121,556,039 (GRCm39) |
L276M |
probably damaging |
Het |
| Nlrp1b |
T |
G |
11: 71,052,755 (GRCm39) |
K888T |
possibly damaging |
Het |
| Pabpc6 |
A |
T |
17: 9,888,145 (GRCm39) |
N135K |
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 71,223,545 (GRCm39) |
F346S |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,813,793 (GRCm39) |
W4086R |
probably damaging |
Het |
| Pmfbp1 |
C |
T |
8: 110,252,039 (GRCm39) |
R395W |
probably damaging |
Het |
| Ppp1ca |
T |
G |
19: 4,244,580 (GRCm39) |
V213G |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rapgef2 |
G |
A |
3: 78,995,207 (GRCm39) |
R814C |
probably damaging |
Het |
| Rnasel |
A |
T |
1: 153,636,521 (GRCm39) |
I634F |
probably damaging |
Het |
| Rnf157 |
A |
T |
11: 116,240,276 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,471,011 (GRCm39) |
S4567P |
probably damaging |
Het |
| Smcr8 |
T |
A |
11: 60,671,185 (GRCm39) |
W778R |
probably damaging |
Het |
| Stat1 |
T |
A |
1: 52,179,789 (GRCm39) |
L333Q |
probably damaging |
Het |
| Taar1 |
G |
T |
10: 23,796,625 (GRCm39) |
A108S |
probably benign |
Het |
| Tro |
C |
G |
X: 149,430,508 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,791,654 (GRCm39) |
|
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 |
|
IGL03368:Sephs1
|
APN |
2 |
4,894,080 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
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 |
2012-12-12 |
Incidental Mutation