Incidental Mutation 'R6775:Sgpp1'
| ID |
532338 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgpp1
|
| Ensembl Gene |
ENSMUSG00000021054 |
| Gene Name |
sphingosine-1-phosphate phosphatase 1 |
| Synonyms |
SPP, SPP1, mSPP1 |
| MMRRC Submission |
044891-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R6775 (G1)
|
| Quality Score |
113.115 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
75761023-75782503 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 75782243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Arginine
at position 32
(P32R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021450]
[ENSMUST00000220285]
|
| AlphaFold |
Q9JI99 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021450
AA Change: P32R
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000021450
Gene: ENSMUSG00000021054
AA Change: P32R
| 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
AA Change: P32R
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
G |
A |
13: 104,450,160 (GRCm39) |
V289M |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,113,040 (GRCm39) |
D862G |
possibly damaging |
Het |
| Ccn6 |
T |
C |
10: 39,027,351 (GRCm39) |
T294A |
probably damaging |
Het |
| Colec10 |
A |
G |
15: 54,298,419 (GRCm39) |
E60G |
possibly damaging |
Het |
| Cpne1 |
A |
G |
2: 155,920,340 (GRCm39) |
V179A |
probably damaging |
Het |
| Galnt9 |
G |
A |
5: 110,768,465 (GRCm39) |
R587H |
probably damaging |
Het |
| Gmip |
A |
G |
8: 70,268,285 (GRCm39) |
D423G |
possibly damaging |
Het |
| Ints15 |
C |
A |
5: 143,297,493 (GRCm39) |
V185L |
probably benign |
Het |
| Klk1b24 |
A |
G |
7: 43,840,889 (GRCm39) |
M106V |
probably benign |
Het |
| Or14c39 |
A |
G |
7: 86,344,357 (GRCm39) |
E231G |
probably benign |
Het |
| Or7g30 |
A |
T |
9: 19,352,718 (GRCm39) |
T170S |
possibly damaging |
Het |
| Or8k40 |
G |
A |
2: 86,584,921 (GRCm39) |
R54C |
probably damaging |
Het |
| Orc1 |
T |
A |
4: 108,460,652 (GRCm39) |
F496I |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Phf11b |
A |
T |
14: 59,576,094 (GRCm39) |
N47K |
probably benign |
Het |
| Plscr4 |
G |
A |
9: 92,364,858 (GRCm39) |
M94I |
probably benign |
Het |
| Ppip5k2 |
A |
T |
1: 97,647,585 (GRCm39) |
V1047E |
possibly damaging |
Het |
| Scn3a |
A |
G |
2: 65,352,159 (GRCm39) |
Y384H |
possibly damaging |
Het |
| Smc1b |
T |
C |
15: 84,973,881 (GRCm39) |
E925G |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 42,003,748 (GRCm39) |
Y183H |
possibly damaging |
Het |
| Tarbp1 |
A |
C |
8: 127,163,568 (GRCm39) |
D1151E |
probably benign |
Het |
| Vmn2r3 |
T |
C |
3: 64,183,039 (GRCm39) |
H220R |
possibly damaging |
Het |
| Wdr5 |
A |
G |
2: 27,423,386 (GRCm39) |
Y260C |
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 |
|
R4034:Sgpp1
|
UTSW |
12 |
75,762,964 (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 |
|
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'- TGCTCACTTTGACCAGCTCG -3'
(R):5'- GTTCTTCGCACAGCAACCAG -3'
Sequencing Primer
(F):5'- TCGCCCGTCAACGAGTTG -3'
(R):5'- AGCAACCAGGAGCACCGG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation