Incidental Mutation 'R6778:Sgpp1'
| ID |
531384 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgpp1
|
| Ensembl Gene |
ENSMUSG00000021054 |
| Gene Name |
sphingosine-1-phosphate phosphatase 1 |
| Synonyms |
SPP, SPP1, mSPP1 |
| MMRRC Submission |
044894-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R6778 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
75761023-75782503 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75763068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 371
(I371T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021450]
[ENSMUST00000220285]
|
| AlphaFold |
Q9JI99 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021450
AA Change: I371T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000021450
Gene: ENSMUSG00000021054
AA Change: I371T
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts14 |
T |
A |
10: 61,061,231 (GRCm39) |
N403Y |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,072,599 (GRCm39) |
E989G |
probably damaging |
Het |
| Aoc2 |
A |
G |
11: 101,216,187 (GRCm39) |
N90S |
probably damaging |
Het |
| Apol9a |
T |
C |
15: 77,288,533 (GRCm39) |
Y278C |
probably benign |
Het |
| Casq2 |
T |
A |
3: 102,035,247 (GRCm39) |
|
probably null |
Het |
| Ccdc7a |
T |
A |
8: 129,547,601 (GRCm39) |
T1284S |
possibly damaging |
Het |
| Dlat |
A |
G |
9: 50,562,157 (GRCm39) |
L289P |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 30,854,640 (GRCm39) |
P101S |
probably benign |
Het |
| Dzip3 |
C |
A |
16: 48,802,446 (GRCm39) |
A28S |
probably benign |
Het |
| Ffar4 |
A |
G |
19: 38,102,112 (GRCm39) |
E249G |
possibly damaging |
Het |
| Fubp3 |
A |
T |
2: 31,488,685 (GRCm39) |
K180N |
possibly damaging |
Het |
| Gm7489 |
T |
A |
15: 53,749,348 (GRCm39) |
|
probably benign |
Het |
| Ifitm6 |
A |
T |
7: 140,596,056 (GRCm39) |
M59K |
possibly damaging |
Het |
| Igkv4-80 |
A |
T |
6: 68,993,545 (GRCm39) |
Y115* |
probably null |
Het |
| Igsf21 |
G |
T |
4: 139,761,959 (GRCm39) |
R240S |
probably benign |
Het |
| Kank4 |
A |
T |
4: 98,649,742 (GRCm39) |
N942K |
probably benign |
Het |
| Man2a1 |
C |
A |
17: 65,021,630 (GRCm39) |
T35K |
possibly damaging |
Het |
| Mvk |
T |
A |
5: 114,590,441 (GRCm39) |
D193E |
probably benign |
Het |
| Npas2 |
T |
A |
1: 39,364,381 (GRCm39) |
M241K |
possibly damaging |
Het |
| Npsr1 |
T |
A |
9: 24,165,914 (GRCm39) |
I100N |
possibly damaging |
Het |
| Olfml2b |
A |
G |
1: 170,472,639 (GRCm39) |
D50G |
probably damaging |
Het |
| Or10d4c |
T |
A |
9: 39,558,043 (GRCm39) |
V7E |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,965,645 (GRCm39) |
D604G |
probably damaging |
Het |
| Pitx2 |
C |
T |
3: 129,012,392 (GRCm39) |
P254L |
probably damaging |
Het |
| Rdh10 |
T |
C |
1: 16,176,408 (GRCm39) |
F56S |
probably damaging |
Het |
| Rin1 |
T |
C |
19: 5,104,914 (GRCm39) |
L647P |
probably damaging |
Het |
| Sgk3 |
T |
A |
1: 9,956,369 (GRCm39) |
|
probably null |
Het |
| Slc12a9 |
T |
C |
5: 137,313,343 (GRCm39) |
Y872C |
possibly damaging |
Het |
| Spata31f3 |
T |
C |
4: 42,868,522 (GRCm39) |
K367R |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,052,406 (GRCm39) |
F7487L |
probably damaging |
Het |
| Tars1 |
T |
C |
15: 11,389,785 (GRCm39) |
N375S |
probably benign |
Het |
| Tbc1d31 |
A |
G |
15: 57,801,425 (GRCm39) |
Y320C |
probably damaging |
Het |
| Tbl1xr1 |
T |
A |
3: 22,243,946 (GRCm39) |
F73L |
probably benign |
Het |
| Tmem145 |
G |
A |
7: 25,010,801 (GRCm39) |
V378I |
probably benign |
Het |
| Tmprss11d |
T |
C |
5: 86,457,209 (GRCm39) |
H150R |
probably benign |
Het |
| Tnc |
T |
G |
4: 63,913,835 (GRCm39) |
I1326L |
probably benign |
Het |
| Trpc7 |
T |
C |
13: 56,952,500 (GRCm39) |
Y502C |
probably damaging |
Het |
| Usp32 |
T |
C |
11: 84,916,512 (GRCm39) |
I811V |
probably benign |
Het |
| Vmn1r71 |
C |
T |
7: 10,482,143 (GRCm39) |
A182T |
probably benign |
Het |
| Wdr47 |
T |
A |
3: 108,540,412 (GRCm39) |
N602K |
probably benign |
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 |
|
R6775:Sgpp1
|
UTSW |
12 |
75,782,243 (GRCm39) |
missense |
probably benign |
0.22 |
|
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'- AGCTGGTAGCCTCCTTTCTTATAAC -3'
(R):5'- ACGGCTGAGATTCTGGGAAG -3'
Sequencing Primer
(F):5'- GTGTTCCTCCATCAAGAGATACC -3'
(R):5'- CTGAGATTCTGGGAAGTGGTGC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation