Incidental Mutation 'R4034:Sgpp1'
ID |
313636 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sgpp1
|
Ensembl Gene |
ENSMUSG00000021054 |
Gene Name |
sphingosine-1-phosphate phosphatase 1 |
Synonyms |
SPP, SPP1, mSPP1 |
MMRRC Submission |
040962-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.131)
|
Stock # |
R4034 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
75761023-75782503 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 75762964 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 406
(Y406H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021450
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021450]
[ENSMUST00000220285]
|
AlphaFold |
Q9JI99 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021450
AA Change: Y406H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021450 Gene: ENSMUSG00000021054 AA Change: Y406H
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
63 |
N/A |
INTRINSIC |
acidPPc
|
150 |
264 |
1.5e-8 |
SMART |
transmembrane domain
|
279 |
298 |
N/A |
INTRINSIC |
transmembrane domain
|
346 |
368 |
N/A |
INTRINSIC |
transmembrane domain
|
407 |
429 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220285
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sphingosine-1-phosphate (S1P) is a bioactive sphingolipid metabolite that regulates diverse biologic processes. SGPP1 catalyzes the degradation of S1P via salvage and recycling of sphingosine into long-chain ceramides (Mandala et al., 2000 [PubMed 10859351]; Le Stunff et al., 2007 [PubMed 17895250]).[supplied by OMIM, Jun 2009] PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal keratinocyte differentiation and epidermal homeostasis with postnatal lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
A |
T |
11: 48,910,108 (GRCm39) |
L775* |
probably null |
Het |
Aarsd1 |
C |
T |
11: 101,302,158 (GRCm39) |
V301I |
probably damaging |
Het |
Arap1 |
A |
T |
7: 101,049,484 (GRCm39) |
Y982F |
possibly damaging |
Het |
Aspa |
T |
C |
11: 73,199,597 (GRCm39) |
K227E |
possibly damaging |
Het |
Ccdc168 |
A |
G |
1: 44,098,026 (GRCm39) |
V1024A |
probably benign |
Het |
Ccdc88c |
G |
A |
12: 100,896,783 (GRCm39) |
A1389V |
possibly damaging |
Het |
Cngb1 |
C |
A |
8: 95,991,078 (GRCm39) |
C708F |
possibly damaging |
Het |
Csn1s2a |
A |
G |
5: 87,929,746 (GRCm39) |
Q115R |
probably benign |
Het |
Cwf19l2 |
A |
T |
9: 3,456,803 (GRCm39) |
H712L |
probably benign |
Het |
Eml6 |
C |
A |
11: 29,753,137 (GRCm39) |
V925L |
probably benign |
Het |
Fbll1 |
G |
A |
11: 35,688,505 (GRCm39) |
H253Y |
possibly damaging |
Het |
Hmgcr |
C |
G |
13: 96,787,571 (GRCm39) |
L852F |
probably damaging |
Het |
Ltbp2 |
A |
T |
12: 84,851,248 (GRCm39) |
C836S |
probably damaging |
Het |
Mroh9 |
A |
G |
1: 162,908,122 (GRCm39) |
|
probably null |
Het |
Muc5ac |
G |
A |
7: 141,353,581 (GRCm39) |
|
probably null |
Het |
Or2y1 |
A |
G |
11: 49,386,287 (GRCm39) |
D309G |
possibly damaging |
Het |
Pgm5 |
T |
A |
19: 24,839,021 (GRCm39) |
I45F |
probably damaging |
Het |
Ppl |
T |
C |
16: 4,924,721 (GRCm39) |
T115A |
probably benign |
Het |
Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
St18 |
G |
A |
1: 6,925,697 (GRCm39) |
|
probably null |
Het |
Tcerg1 |
T |
A |
18: 42,652,598 (GRCm39) |
N75K |
unknown |
Het |
Tmco4 |
T |
C |
4: 138,748,172 (GRCm39) |
Y251H |
probably damaging |
Het |
Usp42 |
C |
T |
5: 143,701,194 (GRCm39) |
S943N |
probably benign |
Het |
Utp20 |
C |
T |
10: 88,598,668 (GRCm39) |
V103I |
probably benign |
Het |
Vmn1r14 |
G |
A |
6: 57,211,310 (GRCm39) |
R252H |
possibly damaging |
Het |
Wapl |
T |
C |
14: 34,459,871 (GRCm39) |
V1013A |
possibly damaging |
Het |
Zfp37 |
G |
A |
4: 62,109,933 (GRCm39) |
T414I |
probably damaging |
Het |
Zfp423 |
A |
G |
8: 88,507,972 (GRCm39) |
C666R |
probably damaging |
Het |
|
Other mutations in Sgpp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00230:Sgpp1
|
APN |
12 |
75,762,968 (GRCm39) |
nonsense |
probably null |
|
IGL01348:Sgpp1
|
APN |
12 |
75,781,767 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01481:Sgpp1
|
APN |
12 |
75,769,431 (GRCm39) |
missense |
probably benign |
0.31 |
IGL03384:Sgpp1
|
APN |
12 |
75,762,880 (GRCm39) |
unclassified |
probably benign |
|
R0597:Sgpp1
|
UTSW |
12 |
75,781,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R1203:Sgpp1
|
UTSW |
12 |
75,763,056 (GRCm39) |
missense |
probably benign |
0.07 |
R1648:Sgpp1
|
UTSW |
12 |
75,762,990 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1842:Sgpp1
|
UTSW |
12 |
75,762,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R1932:Sgpp1
|
UTSW |
12 |
75,762,953 (GRCm39) |
nonsense |
probably null |
|
R1958:Sgpp1
|
UTSW |
12 |
75,782,222 (GRCm39) |
missense |
probably benign |
0.00 |
R2098:Sgpp1
|
UTSW |
12 |
75,763,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R4730:Sgpp1
|
UTSW |
12 |
75,781,713 (GRCm39) |
missense |
probably benign |
|
R5531:Sgpp1
|
UTSW |
12 |
75,781,981 (GRCm39) |
nonsense |
probably null |
|
R6733:Sgpp1
|
UTSW |
12 |
75,782,243 (GRCm39) |
missense |
probably benign |
0.22 |
R6775:Sgpp1
|
UTSW |
12 |
75,782,243 (GRCm39) |
missense |
probably benign |
0.22 |
R6778:Sgpp1
|
UTSW |
12 |
75,763,068 (GRCm39) |
missense |
probably benign |
0.00 |
R6783:Sgpp1
|
UTSW |
12 |
75,782,243 (GRCm39) |
missense |
probably benign |
0.22 |
R6784:Sgpp1
|
UTSW |
12 |
75,782,243 (GRCm39) |
missense |
probably benign |
0.22 |
R6928:Sgpp1
|
UTSW |
12 |
75,763,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R7381:Sgpp1
|
UTSW |
12 |
75,763,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R7805:Sgpp1
|
UTSW |
12 |
75,769,451 (GRCm39) |
missense |
probably damaging |
0.97 |
R8113:Sgpp1
|
UTSW |
12 |
75,763,374 (GRCm39) |
missense |
probably damaging |
0.97 |
R8786:Sgpp1
|
UTSW |
12 |
75,763,152 (GRCm39) |
missense |
probably benign |
|
R9035:Sgpp1
|
UTSW |
12 |
75,782,238 (GRCm39) |
missense |
probably benign |
|
R9243:Sgpp1
|
UTSW |
12 |
75,781,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R9310:Sgpp1
|
UTSW |
12 |
75,769,374 (GRCm39) |
missense |
probably benign |
0.34 |
RF043:Sgpp1
|
UTSW |
12 |
75,769,399 (GRCm39) |
frame shift |
probably null |
|
X0018:Sgpp1
|
UTSW |
12 |
75,763,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTCAAATTCTTGCAGAAGCCTC -3'
(R):5'- TGGGCCTATCCTTAGAACCTTC -3'
Sequencing Primer
(F):5'- AGAAGCCTCTGATCCAAGTTTTACC -3'
(R):5'- AGAACCTTCTCTGCACATGTTAC -3'
|
Posted On |
2015-04-30 |