Incidental Mutation 'IGL01376:Sgpl1'
| ID |
78723 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sgpl1
|
| Ensembl Gene |
ENSMUSG00000020097 |
| Gene Name |
sphingosine phosphate lyase 1 |
| Synonyms |
D10Xrf456 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01376
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
60934421-60983463 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 60949849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 117
(P117S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092498]
[ENSMUST00000122259]
[ENSMUST00000137833]
[ENSMUST00000150258]
[ENSMUST00000155919]
|
| AlphaFold |
Q8R0X7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092498
AA Change: P117S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090155
Gene: ENSMUSG00000020097
AA Change: P117S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
42 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
80 |
N/A |
INTRINSIC |
|
Pfam:Pyridoxal_deC
|
159 |
454 |
7.8e-21 |
PFAM |
|
Pfam:Aminotran_1_2
|
169 |
326 |
3.3e-10 |
PFAM |
|
Pfam:Aminotran_5
|
187 |
472 |
3.6e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122259
AA Change: P117S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112975
Gene: ENSMUSG00000020097
AA Change: P117S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
42 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
80 |
N/A |
INTRINSIC |
|
Pfam:Pyridoxal_deC
|
168 |
454 |
4.1e-23 |
PFAM |
|
Pfam:Aminotran_1_2
|
169 |
326 |
3.3e-10 |
PFAM |
|
Pfam:Aminotran_5
|
186 |
472 |
5.6e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137833
|
| SMART Domains |
Protein: ENSMUSP00000119550
Gene: ENSMUSG00000020097
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
80 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142192
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150258
AA Change: P117S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117848
Gene: ENSMUSG00000020097
AA Change: P117S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
42 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
80 |
N/A |
INTRINSIC |
|
Pfam:Pyridoxal_deC
|
167 |
454 |
2.6e-23 |
PFAM |
|
Pfam:Aminotran_1_2
|
169 |
326 |
7.9e-10 |
PFAM |
|
Pfam:Aminotran_5
|
187 |
471 |
1.1e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155919
AA Change: P117S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115561
Gene: ENSMUSG00000020097
AA Change: P117S
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1f3mc_
|
45 |
128 |
5e-3 |
SMART |
|
PDB:4Q6R|B
|
62 |
199 |
1e-62 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit premature death, skeletal and craniofacial defects, kidney defects, hematopoietic defects, decreased body weight and abnormal cell migration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
T |
2: 35,245,640 (GRCm39) |
I61K |
probably benign |
Het |
| Acot12 |
A |
G |
13: 91,932,790 (GRCm39) |
Y521C |
probably damaging |
Het |
| Anxa7 |
T |
C |
14: 20,510,524 (GRCm39) |
N313D |
probably benign |
Het |
| Cdk14 |
T |
C |
5: 5,060,839 (GRCm39) |
I327M |
probably damaging |
Het |
| Clca3b |
T |
C |
3: 144,531,812 (GRCm39) |
N664S |
possibly damaging |
Het |
| Cpb1 |
A |
C |
3: 20,324,488 (GRCm39) |
L62R |
probably benign |
Het |
| Cracdl |
A |
G |
1: 37,667,425 (GRCm39) |
L207P |
probably damaging |
Het |
| Eef2 |
G |
A |
10: 81,013,883 (GRCm39) |
|
probably benign |
Het |
| Enox1 |
T |
C |
14: 77,489,283 (GRCm39) |
|
probably benign |
Het |
| Esco1 |
A |
T |
18: 10,594,892 (GRCm39) |
C131* |
probably null |
Het |
| Etv1 |
A |
T |
12: 38,907,039 (GRCm39) |
D347V |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,479,878 (GRCm39) |
I2975V |
probably benign |
Het |
| Ghsr |
A |
G |
3: 27,425,977 (GRCm39) |
E11G |
probably benign |
Het |
| Gins4 |
T |
C |
8: 23,717,343 (GRCm39) |
D166G |
probably benign |
Het |
| Iglv2 |
G |
T |
16: 19,079,315 (GRCm39) |
H62N |
possibly damaging |
Het |
| Irf2bp1 |
T |
C |
7: 18,739,952 (GRCm39) |
S531P |
possibly damaging |
Het |
| Lrig3 |
T |
A |
10: 125,830,335 (GRCm39) |
F144L |
probably benign |
Het |
| Magi1 |
C |
T |
6: 94,260,074 (GRCm39) |
R77Q |
possibly damaging |
Het |
| Mlkl |
A |
G |
8: 112,046,379 (GRCm39) |
L298P |
probably damaging |
Het |
| Ndc1 |
T |
C |
4: 107,232,394 (GRCm39) |
L193P |
probably damaging |
Het |
| Npas3 |
A |
T |
12: 54,091,369 (GRCm39) |
T308S |
probably benign |
Het |
| Nt5dc3 |
A |
T |
10: 86,670,028 (GRCm39) |
Q541L |
probably benign |
Het |
| Or10ag53 |
T |
C |
2: 87,083,217 (GRCm39) |
V312A |
possibly damaging |
Het |
| Or8k37 |
A |
C |
2: 86,469,953 (GRCm39) |
V33G |
probably benign |
Het |
| Parp10 |
G |
T |
15: 76,125,877 (GRCm39) |
T437K |
probably benign |
Het |
| Phf3 |
A |
G |
1: 30,869,566 (GRCm39) |
V494A |
possibly damaging |
Het |
| Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
| Sars2 |
T |
A |
7: 28,449,308 (GRCm39) |
Y307N |
probably damaging |
Het |
| Serping1 |
A |
T |
2: 84,600,529 (GRCm39) |
V271E |
probably damaging |
Het |
| Slc38a1 |
A |
C |
15: 96,483,437 (GRCm39) |
L297R |
probably damaging |
Het |
| Strbp |
A |
G |
2: 37,535,663 (GRCm39) |
M15T |
probably damaging |
Het |
| Tdp2 |
A |
G |
13: 25,020,932 (GRCm39) |
|
probably null |
Het |
| Tex10 |
T |
C |
4: 48,456,740 (GRCm39) |
Y657C |
possibly damaging |
Het |
| Xrcc4 |
A |
T |
13: 90,210,169 (GRCm39) |
S92T |
probably benign |
Het |
|
| Other mutations in Sgpl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01359:Sgpl1
|
APN |
10 |
60,936,687 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01954:Sgpl1
|
APN |
10 |
60,936,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02668:Sgpl1
|
APN |
10 |
60,941,229 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02797:Sgpl1
|
APN |
10 |
60,937,507 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0034:Sgpl1
|
UTSW |
10 |
60,938,392 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0309:Sgpl1
|
UTSW |
10 |
60,949,216 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0647:Sgpl1
|
UTSW |
10 |
60,949,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1496:Sgpl1
|
UTSW |
10 |
60,938,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1603:Sgpl1
|
UTSW |
10 |
60,941,230 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1941:Sgpl1
|
UTSW |
10 |
60,939,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4097:Sgpl1
|
UTSW |
10 |
60,939,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4392:Sgpl1
|
UTSW |
10 |
60,940,231 (GRCm39) |
splice site |
probably benign |
|
|
R4798:Sgpl1
|
UTSW |
10 |
60,959,123 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4849:Sgpl1
|
UTSW |
10 |
60,940,297 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4882:Sgpl1
|
UTSW |
10 |
60,948,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4962:Sgpl1
|
UTSW |
10 |
60,949,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6395:Sgpl1
|
UTSW |
10 |
60,947,936 (GRCm39) |
splice site |
probably null |
|
|
R7767:Sgpl1
|
UTSW |
10 |
60,953,502 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7947:Sgpl1
|
UTSW |
10 |
60,942,121 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-11-05 |
Incidental Mutation