Incidental Mutation 'IGL01943:Sphk2'
ID |
180943 |
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 # |
IGL01943
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
45358891-45367426 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 45360148 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]
[ENSMUST00000211513]
[ENSMUST00000211357]
|
AlphaFold |
Q9JIA7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000072836
|
SMART Domains |
Protein: ENSMUSP00000072615 Gene: ENSMUSG00000057342
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 benign
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 benign
Transcript: ENSMUST00000107737
|
SMART Domains |
Protein: ENSMUSP00000103366 Gene: ENSMUSG00000057342
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 benign
Transcript: ENSMUST00000210060
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210120
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210640
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211340
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211513
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211357
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211748
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd16a |
A |
G |
17: 35,315,459 (GRCm39) |
K169E |
probably benign |
Het |
Ago4 |
A |
G |
4: 126,410,988 (GRCm39) |
V167A |
probably damaging |
Het |
Bcam |
C |
T |
7: 19,499,423 (GRCm39) |
R200H |
probably damaging |
Het |
Cblb |
G |
A |
16: 51,959,996 (GRCm39) |
|
probably null |
Het |
Cdc37 |
T |
C |
9: 21,054,409 (GRCm39) |
E72G |
probably benign |
Het |
Chek2 |
T |
A |
5: 110,989,093 (GRCm39) |
|
probably benign |
Het |
Col6a1 |
A |
T |
10: 76,554,957 (GRCm39) |
|
probably null |
Het |
Col7a1 |
A |
G |
9: 108,813,084 (GRCm39) |
|
probably null |
Het |
Ecpas |
A |
G |
4: 58,849,937 (GRCm39) |
F429L |
possibly damaging |
Het |
Fmo3 |
C |
T |
1: 162,794,575 (GRCm39) |
R165H |
probably benign |
Het |
Gm2663 |
C |
T |
6: 40,973,010 (GRCm39) |
G199D |
probably damaging |
Het |
Gm8108 |
T |
C |
14: 4,127,217 (GRCm38) |
S134P |
probably damaging |
Het |
Kif1b |
A |
T |
4: 149,299,362 (GRCm39) |
|
probably null |
Het |
Krt76 |
T |
A |
15: 101,797,480 (GRCm39) |
D293V |
probably null |
Het |
Lifr |
T |
A |
15: 7,217,630 (GRCm39) |
C853S |
probably damaging |
Het |
Muc5b |
A |
T |
7: 141,415,234 (GRCm39) |
I2727F |
possibly damaging |
Het |
Myo7a |
T |
C |
7: 97,714,854 (GRCm39) |
K1606R |
possibly damaging |
Het |
Noxred1 |
G |
T |
12: 87,269,955 (GRCm39) |
Q259K |
probably benign |
Het |
Obox3 |
C |
T |
7: 15,360,777 (GRCm39) |
E121K |
probably benign |
Het |
Or14j1 |
G |
A |
17: 38,145,944 (GRCm39) |
R18H |
probably benign |
Het |
Or1j19 |
T |
C |
2: 36,677,095 (GRCm39) |
I186T |
probably benign |
Het |
Or2y16 |
T |
A |
11: 49,335,015 (GRCm39) |
C112* |
probably null |
Het |
Or5b24 |
T |
C |
19: 12,913,038 (GRCm39) |
L312S |
probably benign |
Het |
Phf11 |
A |
T |
14: 59,488,611 (GRCm39) |
V62E |
probably damaging |
Het |
Pkd2l2 |
T |
C |
18: 34,550,089 (GRCm39) |
F245L |
probably damaging |
Het |
Pla2g6 |
T |
C |
15: 79,197,316 (GRCm39) |
Q86R |
probably null |
Het |
Polq |
T |
A |
16: 36,881,805 (GRCm39) |
I1044K |
possibly damaging |
Het |
Pomgnt2 |
G |
T |
9: 121,811,536 (GRCm39) |
T415N |
probably benign |
Het |
Pprc1 |
T |
A |
19: 46,052,983 (GRCm39) |
|
probably benign |
Het |
Prol1 |
T |
A |
5: 88,475,820 (GRCm39) |
M70K |
probably benign |
Het |
Ptpn22 |
T |
A |
3: 103,793,652 (GRCm39) |
V601E |
probably benign |
Het |
Slc16a3 |
T |
C |
11: 120,847,709 (GRCm39) |
|
probably null |
Het |
Slco1b2 |
A |
G |
6: 141,622,012 (GRCm39) |
D489G |
possibly damaging |
Het |
Stat4 |
C |
T |
1: 52,136,014 (GRCm39) |
T441I |
possibly damaging |
Het |
Tle1 |
A |
T |
4: 72,040,639 (GRCm39) |
V647E |
probably damaging |
Het |
Tnrc6b |
C |
A |
15: 80,811,896 (GRCm39) |
Y814* |
probably null |
Het |
Tubgcp3 |
A |
G |
8: 12,704,301 (GRCm39) |
F256S |
probably damaging |
Het |
Uqcrb |
A |
T |
13: 67,050,827 (GRCm39) |
|
probably null |
Het |
Vmn1r200 |
A |
T |
13: 22,580,097 (GRCm39) |
E300V |
possibly damaging |
Het |
Zfp324 |
C |
T |
7: 12,702,713 (GRCm39) |
|
probably benign |
Het |
Zxdc |
T |
C |
6: 90,349,520 (GRCm39) |
|
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 |
IGL01819:Sphk2
|
APN |
7 |
45,360,480 (GRCm39) |
splice site |
probably null |
|
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 |
2014-05-07 |