Incidental Mutation 'IGL01819:Sphk2'
| ID |
154458 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sphk2
|
| Ensembl Gene |
ENSMUSG00000057342 |
| Gene Name |
sphingosine kinase 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01819
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45358891-45367426 bp(-) (GRCm39) |
| Type of Mutation |
splice site (942 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 45360480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072836]
[ENSMUST00000080885]
[ENSMUST00000107737]
[ENSMUST00000210060]
[ENSMUST00000210640]
[ENSMUST00000211340]
[ENSMUST00000211357]
[ENSMUST00000211513]
|
| AlphaFold |
Q9JIA7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072836
AA Change: I508T
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000072615
Gene: ENSMUSG00000057342
AA Change: I508T
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1epfa2
|
63 |
87 |
1e-2 |
SMART |
|
DAGKc
|
147 |
284 |
4.49e-5 |
SMART |
|
low complexity region
|
369 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
440 |
N/A |
INTRINSIC |
|
PDB:3VZB|C
|
468 |
609 |
4e-25 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000080885
|
| SMART Domains |
Protein: ENSMUSP00000079693
Gene: ENSMUSG00000059824
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
171 |
N/A |
INTRINSIC |
|
BRLZ
|
253 |
317 |
5.17e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107737
AA Change: I508T
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103366
Gene: ENSMUSG00000057342
AA Change: I508T
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1epfa2
|
63 |
87 |
1e-2 |
SMART |
|
DAGKc
|
147 |
284 |
4.49e-5 |
SMART |
|
low complexity region
|
369 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
440 |
N/A |
INTRINSIC |
|
PDB:3VZB|C
|
468 |
609 |
4e-25 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210060
AA Change: I508T
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210120
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210640
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211340
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211357
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211748
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211513
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a kinase that phosphorylates sphingosine into sphingosine-1-phosphate, which is involved in cell differentiation, motility, and apoptosis. The encoded protein plays a role in maintaining cellular levels of sphingosine-1-phosphate. The gene product also enhances apoptosis in different cell types and suppresses cellular proliferation. In mast cells, the encoded protein is necessary for influx of calcium, protein kinase C activation, and cytokine production and degranulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a disruption in this gene display a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora2b |
A |
G |
11: 62,156,010 (GRCm39) |
N153S |
possibly damaging |
Het |
| Afm |
C |
T |
5: 90,672,765 (GRCm39) |
T200I |
probably benign |
Het |
| Cyp2c67 |
T |
C |
19: 39,604,165 (GRCm39) |
D397G |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,998,952 (GRCm39) |
V1032A |
probably benign |
Het |
| Elovl7 |
T |
G |
13: 108,410,854 (GRCm39) |
V143G |
probably damaging |
Het |
| Fhl4 |
T |
C |
10: 84,934,734 (GRCm39) |
K16E |
probably damaging |
Het |
| Golga1 |
C |
T |
2: 38,924,161 (GRCm39) |
C383Y |
probably benign |
Het |
| Gucy1a2 |
C |
T |
9: 3,865,409 (GRCm39) |
R628* |
probably null |
Het |
| Hectd4 |
A |
G |
5: 121,466,481 (GRCm39) |
D2432G |
possibly damaging |
Het |
| Iqcf5 |
T |
A |
9: 106,393,189 (GRCm39) |
*149R |
probably null |
Het |
| Kcnab1 |
T |
A |
3: 65,226,875 (GRCm39) |
Y185N |
probably damaging |
Het |
| Lars1 |
G |
T |
18: 42,335,615 (GRCm39) |
T1167K |
probably benign |
Het |
| Mib2 |
A |
T |
4: 155,739,715 (GRCm39) |
|
probably null |
Het |
| Mrps2 |
T |
C |
2: 28,358,348 (GRCm39) |
V46A |
probably benign |
Het |
| Myo18b |
T |
C |
5: 113,025,916 (GRCm39) |
T45A |
unknown |
Het |
| Myo1e |
C |
T |
9: 70,250,322 (GRCm39) |
|
probably benign |
Het |
| Or10ag59 |
A |
G |
2: 87,405,823 (GRCm39) |
I132V |
probably damaging |
Het |
| Or4k39 |
T |
A |
2: 111,239,078 (GRCm39) |
V106E |
probably damaging |
Het |
| Osbp2 |
A |
T |
11: 3,667,127 (GRCm39) |
I8N |
probably damaging |
Het |
| Pcdhb22 |
A |
T |
18: 37,652,974 (GRCm39) |
N481Y |
probably damaging |
Het |
| Pde3a |
T |
C |
6: 141,433,263 (GRCm39) |
W765R |
probably damaging |
Het |
| Phf11c |
T |
C |
14: 59,630,586 (GRCm39) |
T40A |
probably benign |
Het |
| Pih1d2 |
T |
A |
9: 50,533,177 (GRCm39) |
S268R |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,724,913 (GRCm39) |
N2333D |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,463,165 (GRCm39) |
I62T |
probably damaging |
Het |
| Ptcd2 |
T |
C |
13: 99,463,219 (GRCm39) |
N245S |
possibly damaging |
Het |
| Ripor3 |
C |
A |
2: 167,822,763 (GRCm39) |
V933F |
probably damaging |
Het |
| Sanbr |
A |
G |
11: 23,534,561 (GRCm39) |
S105P |
probably benign |
Het |
| Tfcp2 |
T |
G |
15: 100,402,320 (GRCm39) |
E492D |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,629,106 (GRCm39) |
V14411I |
possibly damaging |
Het |
| Utp20 |
T |
C |
10: 88,628,549 (GRCm39) |
Q915R |
probably damaging |
Het |
| Vmn2r45 |
C |
A |
7: 8,488,556 (GRCm39) |
S158I |
probably benign |
Het |
|
| Other mutations in Sphk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01672:Sphk2
|
APN |
7 |
45,361,077 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01943:Sphk2
|
APN |
7 |
45,360,148 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01981:Sphk2
|
APN |
7 |
45,360,157 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0270:Sphk2
|
UTSW |
7 |
45,360,149 (GRCm39) |
makesense |
probably null |
|
|
R1385:Sphk2
|
UTSW |
7 |
45,361,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1581:Sphk2
|
UTSW |
7 |
45,362,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1634:Sphk2
|
UTSW |
7 |
45,360,964 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2009:Sphk2
|
UTSW |
7 |
45,360,437 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4755:Sphk2
|
UTSW |
7 |
45,363,058 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5092:Sphk2
|
UTSW |
7 |
45,361,777 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6407:Sphk2
|
UTSW |
7 |
45,362,024 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7320:Sphk2
|
UTSW |
7 |
45,361,894 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7418:Sphk2
|
UTSW |
7 |
45,361,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7584:Sphk2
|
UTSW |
7 |
45,361,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7585:Sphk2
|
UTSW |
7 |
45,361,006 (GRCm39) |
missense |
probably benign |
|
|
R8560:Sphk2
|
UTSW |
7 |
45,361,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8701:Sphk2
|
UTSW |
7 |
45,360,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9228:Sphk2
|
UTSW |
7 |
45,360,337 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9314:Sphk2
|
UTSW |
7 |
45,361,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9320:Sphk2
|
UTSW |
7 |
45,361,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation