Incidental Mutation 'R6407:Sphk2'
ID |
514492 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sphk2
|
Ensembl Gene |
ENSMUSG00000057342 |
Gene Name |
sphingosine kinase 2 |
Synonyms |
|
MMRRC Submission |
044552-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6407 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
45358891-45367426 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45362024 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 138
(T138A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147391
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072836]
[ENSMUST00000080885]
[ENSMUST00000107737]
[ENSMUST00000210060]
[ENSMUST00000210640]
[ENSMUST00000211340]
[ENSMUST00000211513]
[ENSMUST00000211357]
|
AlphaFold |
Q9JIA7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072836
AA Change: T138A
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000072615 Gene: ENSMUSG00000057342 AA Change: T138A
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 |
possibly damaging
Transcript: ENSMUST00000107737
AA Change: T138A
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103366 Gene: ENSMUSG00000057342 AA Change: T138A
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 |
possibly damaging
Transcript: ENSMUST00000210060
AA Change: T138A
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
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
|
Meta Mutation Damage Score |
0.0645 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
Validation Efficiency |
100% (36/36) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk2 |
T |
C |
18: 65,422,809 (GRCm39) |
Y1963C |
probably benign |
Het |
Bptf |
T |
A |
11: 107,001,952 (GRCm39) |
N387Y |
probably damaging |
Het |
C1ql2 |
T |
C |
1: 120,269,340 (GRCm39) |
L165P |
probably damaging |
Het |
Col5a2 |
C |
A |
1: 45,415,938 (GRCm39) |
C1403F |
probably damaging |
Het |
Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
Htr3a |
G |
T |
9: 48,812,355 (GRCm39) |
Y250* |
probably null |
Het |
Ighg2c |
T |
C |
12: 113,252,271 (GRCm39) |
K94E |
unknown |
Het |
Ighg3 |
T |
C |
12: 113,323,770 (GRCm39) |
N206S |
unknown |
Het |
Il36rn |
A |
G |
2: 24,171,365 (GRCm39) |
Y151C |
probably damaging |
Het |
Kif22 |
G |
A |
7: 126,632,375 (GRCm39) |
R312C |
probably damaging |
Het |
Lap3 |
T |
A |
5: 45,669,267 (GRCm39) |
V472E |
probably damaging |
Het |
Mast3 |
T |
C |
8: 71,234,772 (GRCm39) |
T762A |
probably benign |
Het |
Mfsd12 |
T |
C |
10: 81,198,067 (GRCm39) |
|
probably null |
Het |
Mrpl39 |
T |
C |
16: 84,529,273 (GRCm39) |
K123R |
probably benign |
Het |
Mup8 |
T |
A |
4: 60,220,394 (GRCm39) |
T113S |
possibly damaging |
Het |
Nhp2 |
T |
C |
11: 51,510,730 (GRCm39) |
V29A |
probably benign |
Het |
Or14a260 |
T |
C |
7: 85,985,277 (GRCm39) |
E109G |
possibly damaging |
Het |
Pex3 |
T |
C |
10: 13,422,112 (GRCm39) |
R63G |
probably damaging |
Het |
Pfkl |
A |
G |
10: 77,824,507 (GRCm39) |
|
probably null |
Het |
Rims2 |
T |
C |
15: 39,315,724 (GRCm39) |
S617P |
probably damaging |
Het |
Rnf223 |
A |
T |
4: 156,216,816 (GRCm39) |
T64S |
probably damaging |
Het |
Rrp12 |
C |
T |
19: 41,872,181 (GRCm39) |
V432M |
probably damaging |
Het |
Sag |
T |
C |
1: 87,742,528 (GRCm39) |
V100A |
probably benign |
Het |
Slc17a7 |
C |
T |
7: 44,819,350 (GRCm39) |
A167V |
probably benign |
Het |
Slc38a6 |
T |
C |
12: 73,356,949 (GRCm39) |
F115S |
probably damaging |
Het |
Spata31h1 |
A |
G |
10: 82,129,645 (GRCm39) |
S1122P |
probably benign |
Het |
Spdye4a |
T |
C |
5: 143,211,454 (GRCm39) |
T37A |
probably benign |
Het |
Srgap3 |
T |
C |
6: 112,699,967 (GRCm39) |
S1004G |
probably damaging |
Het |
Sult1a1 |
T |
C |
7: 126,272,356 (GRCm39) |
|
probably null |
Het |
Tmem212 |
A |
G |
3: 27,938,988 (GRCm39) |
V166A |
probably benign |
Het |
Tor4a |
A |
G |
2: 25,084,952 (GRCm39) |
L317P |
probably benign |
Het |
Trim43c |
A |
T |
9: 88,722,467 (GRCm39) |
T38S |
probably benign |
Het |
Tshz1 |
C |
A |
18: 84,034,091 (GRCm39) |
V106F |
possibly damaging |
Het |
Tut4 |
G |
T |
4: 108,415,979 (GRCm39) |
E1648D |
probably damaging |
Het |
Yap1 |
A |
G |
9: 7,962,373 (GRCm39) |
M225T |
possibly damaging |
Het |
Zfp74 |
T |
C |
7: 29,635,048 (GRCm39) |
E220G |
probably damaging |
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGACAATGCCTTCCCACTC -3'
(R):5'- CGCTTTGTCTTAGCACCAGTG -3'
Sequencing Primer
(F):5'- TCGTTCTAAGGGGGCAAATC -3'
(R):5'- AACTGGCCCGACCTCACTG -3'
|
Posted On |
2018-05-04 |