Incidental Mutation 'R4685:Sphk1'
ID |
353626 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sphk1
|
Ensembl Gene |
ENSMUSG00000061878 |
Gene Name |
sphingosine kinase 1 |
Synonyms |
1110006G24Rik, SK1 |
MMRRC Submission |
041936-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4685 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
116421751-116427501 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116426106 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 96
(D96G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114819
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063396]
[ENSMUST00000063446]
[ENSMUST00000082152]
[ENSMUST00000100201]
[ENSMUST00000106386]
[ENSMUST00000106387]
[ENSMUST00000106388]
[ENSMUST00000141798]
[ENSMUST00000124682]
[ENSMUST00000138840]
[ENSMUST00000145737]
[ENSMUST00000154034]
[ENSMUST00000155102]
|
AlphaFold |
Q8CI15 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063396
AA Change: D96G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000064743 Gene: ENSMUSG00000061878 AA Change: D96G
Domain | Start | End | E-Value | Type |
DAGKc
|
16 |
153 |
1.19e-8 |
SMART |
low complexity region
|
257 |
263 |
N/A |
INTRINSIC |
low complexity region
|
368 |
382 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063446
AA Change: D96G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000067865 Gene: ENSMUSG00000061878 AA Change: D96G
Domain | Start | End | E-Value | Type |
DAGKc
|
16 |
153 |
1.19e-8 |
SMART |
low complexity region
|
257 |
263 |
N/A |
INTRINSIC |
low complexity region
|
368 |
382 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000082152
|
SMART Domains |
Protein: ENSMUSP00000080791 Gene: ENSMUSG00000020802
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
47 |
N/A |
INTRINSIC |
low complexity region
|
79 |
110 |
N/A |
INTRINSIC |
low complexity region
|
289 |
298 |
N/A |
INTRINSIC |
low complexity region
|
379 |
391 |
N/A |
INTRINSIC |
low complexity region
|
470 |
505 |
N/A |
INTRINSIC |
low complexity region
|
516 |
528 |
N/A |
INTRINSIC |
low complexity region
|
705 |
712 |
N/A |
INTRINSIC |
low complexity region
|
715 |
737 |
N/A |
INTRINSIC |
coiled coil region
|
845 |
879 |
N/A |
INTRINSIC |
UBCc
|
953 |
1110 |
2.23e-16 |
SMART |
Blast:UBCc
|
1201 |
1274 |
1e-15 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100201
AA Change: D95G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000097775 Gene: ENSMUSG00000061878 AA Change: D95G
Domain | Start | End | E-Value | Type |
DAGKc
|
15 |
152 |
1.19e-8 |
SMART |
low complexity region
|
256 |
262 |
N/A |
INTRINSIC |
low complexity region
|
367 |
381 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106386
AA Change: D96G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101994 Gene: ENSMUSG00000061878 AA Change: D96G
Domain | Start | End | E-Value | Type |
DAGKc
|
16 |
153 |
1.19e-8 |
SMART |
low complexity region
|
257 |
263 |
N/A |
INTRINSIC |
low complexity region
|
368 |
382 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106387
AA Change: D96G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101995 Gene: ENSMUSG00000061878 AA Change: D96G
Domain | Start | End | E-Value | Type |
DAGKc
|
16 |
153 |
1.19e-8 |
SMART |
low complexity region
|
257 |
263 |
N/A |
INTRINSIC |
low complexity region
|
368 |
382 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106388
AA Change: D96G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101996 Gene: ENSMUSG00000061878 AA Change: D96G
Domain | Start | End | E-Value | Type |
DAGKc
|
16 |
153 |
1.19e-8 |
SMART |
low complexity region
|
257 |
263 |
N/A |
INTRINSIC |
low complexity region
|
368 |
382 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000141798
AA Change: D102G
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000131010 Gene: ENSMUSG00000061878 AA Change: D102G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
DAGKc
|
22 |
159 |
1.19e-8 |
SMART |
low complexity region
|
263 |
269 |
N/A |
INTRINSIC |
low complexity region
|
374 |
388 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000124682
AA Change: D96G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116055 Gene: ENSMUSG00000061878 AA Change: D96G
Domain | Start | End | E-Value | Type |
DAGKc
|
16 |
153 |
1.19e-8 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134834
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136526
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000138840
AA Change: D95G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121064 Gene: ENSMUSG00000061878 AA Change: D95G
Domain | Start | End | E-Value | Type |
DAGKc
|
15 |
152 |
1.19e-8 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000145737
AA Change: D95G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114622 Gene: ENSMUSG00000061878 AA Change: D95G
Domain | Start | End | E-Value | Type |
DAGKc
|
15 |
152 |
1.19e-8 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148185
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154034
AA Change: D95G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000121219 Gene: ENSMUSG00000061878 AA Change: D95G
Domain | Start | End | E-Value | Type |
DAGKc
|
15 |
152 |
1.19e-8 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155102
AA Change: D96G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114819 Gene: ENSMUSG00000061878 AA Change: D96G
Domain | Start | End | E-Value | Type |
Pfam:DAGK_cat
|
16 |
116 |
4.6e-27 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134102
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150658
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186169
|
Meta Mutation Damage Score |
0.6713 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
97% (71/73) |
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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] PHENOTYPE: Homozygous null mice are viable, fertile, and without any obvious abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410004P03Rik |
T |
C |
12: 17,057,185 (GRCm39) |
D104G |
probably damaging |
Het |
2810021J22Rik |
T |
C |
11: 58,771,750 (GRCm39) |
S411P |
probably damaging |
Het |
Adcy2 |
T |
C |
13: 68,876,024 (GRCm39) |
R493G |
probably benign |
Het |
Adcy8 |
A |
G |
15: 64,609,287 (GRCm39) |
I874T |
probably benign |
Het |
Ano2 |
G |
T |
6: 125,957,087 (GRCm39) |
E619* |
probably null |
Het |
Apob |
A |
G |
12: 8,056,456 (GRCm39) |
K1613R |
probably benign |
Het |
Arhgef10 |
T |
A |
8: 15,006,963 (GRCm39) |
F476Y |
probably damaging |
Het |
Bmf |
G |
A |
2: 118,377,283 (GRCm39) |
A74V |
probably damaging |
Het |
Cadps |
T |
C |
14: 12,467,139 (GRCm38) |
E925G |
possibly damaging |
Het |
Ccdc162 |
T |
C |
10: 41,557,682 (GRCm39) |
D181G |
possibly damaging |
Het |
Ccdc85c |
A |
T |
12: 108,173,434 (GRCm39) |
C387S |
probably benign |
Het |
Cntnap5a |
T |
C |
1: 116,374,410 (GRCm39) |
V974A |
possibly damaging |
Het |
Cplx3 |
T |
A |
9: 57,516,483 (GRCm39) |
I407F |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,250,488 (GRCm39) |
F1703S |
probably damaging |
Het |
Dsg3 |
C |
A |
18: 20,672,793 (GRCm39) |
D821E |
probably benign |
Het |
Ecel1 |
G |
T |
1: 87,080,668 (GRCm39) |
|
probably null |
Het |
Edn1 |
A |
T |
13: 42,458,729 (GRCm39) |
|
probably null |
Het |
Egfr |
G |
A |
11: 16,808,980 (GRCm39) |
C58Y |
probably damaging |
Het |
Fam184a |
T |
C |
10: 53,574,596 (GRCm39) |
N282D |
probably benign |
Het |
Fhit |
T |
A |
14: 9,870,091 (GRCm38) |
Q63L |
probably damaging |
Het |
Gabarapl2 |
T |
C |
8: 112,669,150 (GRCm39) |
V36A |
probably benign |
Het |
Glis1 |
T |
C |
4: 107,424,842 (GRCm39) |
V151A |
probably benign |
Het |
Gm12695 |
A |
G |
4: 96,650,217 (GRCm39) |
S210P |
probably damaging |
Het |
Gpat4 |
TAGAAGA |
TAGA |
8: 23,672,865 (GRCm39) |
|
probably benign |
Het |
H2-M10.4 |
G |
A |
17: 36,772,688 (GRCm39) |
A98V |
probably benign |
Het |
Hhat |
C |
A |
1: 192,277,362 (GRCm39) |
G366C |
probably damaging |
Het |
Hydin |
C |
A |
8: 111,189,154 (GRCm39) |
A1186E |
probably damaging |
Het |
Itgb2 |
T |
A |
10: 77,385,937 (GRCm39) |
|
probably null |
Het |
Kank1 |
C |
T |
19: 25,387,398 (GRCm39) |
A329V |
possibly damaging |
Het |
Kdm4b |
T |
A |
17: 56,708,675 (GRCm39) |
S1070T |
probably benign |
Het |
Kyat1 |
A |
G |
2: 30,078,277 (GRCm39) |
Y101H |
probably damaging |
Het |
Map4k5 |
T |
C |
12: 69,858,140 (GRCm39) |
K679R |
probably benign |
Het |
Mill1 |
A |
T |
7: 17,989,853 (GRCm39) |
D45V |
probably damaging |
Het |
Myo3a |
T |
A |
2: 22,412,233 (GRCm39) |
Y743N |
probably damaging |
Het |
Nox4 |
C |
G |
7: 86,946,716 (GRCm39) |
I137M |
probably benign |
Het |
Odf4 |
A |
G |
11: 68,813,665 (GRCm39) |
|
probably null |
Het |
Ostf1 |
A |
T |
19: 18,558,652 (GRCm39) |
D210E |
probably damaging |
Het |
Paxip1 |
A |
T |
5: 27,966,675 (GRCm39) |
|
probably null |
Het |
Pitrm1 |
A |
G |
13: 6,606,578 (GRCm39) |
T211A |
probably benign |
Het |
Pla2g4f |
A |
G |
2: 120,135,496 (GRCm39) |
S393P |
probably damaging |
Het |
Plppr3 |
T |
C |
10: 79,703,359 (GRCm39) |
T42A |
probably damaging |
Het |
Plxna4 |
C |
A |
6: 32,142,779 (GRCm39) |
G1559W |
probably damaging |
Het |
Ppp1r13l |
T |
C |
7: 19,109,308 (GRCm39) |
|
probably null |
Het |
Prex1 |
C |
T |
2: 166,480,252 (GRCm39) |
V163M |
probably damaging |
Het |
Prl6a1 |
A |
G |
13: 27,500,307 (GRCm39) |
T93A |
probably benign |
Het |
Psg16 |
T |
C |
7: 16,824,459 (GRCm39) |
V81A |
probably benign |
Het |
Rbm33 |
A |
T |
5: 28,613,280 (GRCm39) |
|
probably benign |
Het |
Rest |
C |
T |
5: 77,423,090 (GRCm39) |
P298L |
possibly damaging |
Het |
Rhobtb3 |
G |
A |
13: 76,027,051 (GRCm39) |
R441* |
probably null |
Het |
Rims4 |
T |
A |
2: 163,706,914 (GRCm39) |
K155* |
probably null |
Het |
Rps6kb1 |
C |
T |
11: 86,410,713 (GRCm39) |
|
probably null |
Het |
Ryr2 |
T |
C |
13: 11,707,532 (GRCm39) |
D2835G |
probably damaging |
Het |
Sc5d |
C |
T |
9: 42,169,946 (GRCm39) |
V92I |
probably benign |
Het |
Sell |
A |
T |
1: 163,893,829 (GRCm39) |
I175F |
probably damaging |
Het |
Serpinb6d |
A |
G |
13: 33,855,211 (GRCm39) |
D295G |
probably damaging |
Het |
Spns3 |
A |
T |
11: 72,428,096 (GRCm39) |
V228D |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,469,828 (GRCm39) |
S4500G |
probably damaging |
Het |
Syt9 |
T |
A |
7: 107,035,678 (GRCm39) |
C232S |
possibly damaging |
Het |
Terf1 |
A |
G |
1: 15,889,185 (GRCm39) |
I176V |
possibly damaging |
Het |
Tln2 |
C |
T |
9: 67,209,854 (GRCm39) |
A428T |
probably damaging |
Het |
Tmprss7 |
T |
C |
16: 45,499,711 (GRCm39) |
N321S |
probably benign |
Het |
Tomm40 |
A |
G |
7: 19,435,761 (GRCm39) |
I323T |
probably benign |
Het |
Try5 |
T |
A |
6: 41,288,233 (GRCm39) |
Q240L |
possibly damaging |
Het |
Vmn1r213 |
A |
T |
13: 23,195,800 (GRCm39) |
I128L |
probably benign |
Het |
Vmn2r80 |
T |
C |
10: 79,030,162 (GRCm39) |
F663L |
possibly damaging |
Het |
Znfx1 |
T |
A |
2: 166,880,950 (GRCm39) |
Y278F |
probably damaging |
Het |
Zpbp2 |
A |
G |
11: 98,442,117 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Sphk1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
P0040:Sphk1
|
UTSW |
11 |
116,425,891 (GRCm39) |
splice site |
probably benign |
|
R0565:Sphk1
|
UTSW |
11 |
116,427,184 (GRCm39) |
unclassified |
probably benign |
|
R1307:Sphk1
|
UTSW |
11 |
116,426,928 (GRCm39) |
missense |
probably benign |
0.09 |
R1635:Sphk1
|
UTSW |
11 |
116,426,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R1940:Sphk1
|
UTSW |
11 |
116,426,676 (GRCm39) |
missense |
probably benign |
0.00 |
R5440:Sphk1
|
UTSW |
11 |
116,425,714 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5621:Sphk1
|
UTSW |
11 |
116,427,192 (GRCm39) |
unclassified |
probably benign |
|
R6767:Sphk1
|
UTSW |
11 |
116,426,982 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7150:Sphk1
|
UTSW |
11 |
116,425,907 (GRCm39) |
missense |
probably benign |
0.07 |
R7207:Sphk1
|
UTSW |
11 |
116,426,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R7758:Sphk1
|
UTSW |
11 |
116,427,063 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8084:Sphk1
|
UTSW |
11 |
116,425,904 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8733:Sphk1
|
UTSW |
11 |
116,426,451 (GRCm39) |
missense |
probably benign |
0.32 |
R8827:Sphk1
|
UTSW |
11 |
116,426,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R9034:Sphk1
|
UTSW |
11 |
116,426,449 (GRCm39) |
missense |
probably damaging |
1.00 |
RF018:Sphk1
|
UTSW |
11 |
116,425,771 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGCTCTGAGAACATCAACTCTTC -3'
(R):5'- ACTCCAGCAGAAAGTGGAGC -3'
Sequencing Primer
(F):5'- AACCATGCCAGGGAGCTG -3'
(R):5'- CAGCAGAAAGTGGAGCTTCCC -3'
|
Posted On |
2015-10-21 |