Mutagenetix > Incidental Mutation

Incidental Mutation 'P0040:Sphk1'

8012

Institutional Source

Beutler Lab

Gene Symbol

Sphk1

Ensembl Gene

ENSMUSG00000061878

Gene Name

sphingosine kinase 1

Synonyms

1110006G24Rik, SK1

MMRRC Submission

038288-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

P0040 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

116421751-116427501 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 116425891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114819 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063396] [ENSMUST00000063446] [ENSMUST00000082152] [ENSMUST00000100201] [ENSMUST00000106386] [ENSMUST00000106387] [ENSMUST00000106388] [ENSMUST00000141798] [ENSMUST00000124682] [ENSMUST00000145737] [ENSMUST00000155102] [ENSMUST00000154034] [ENSMUST00000138840]

AlphaFold

Q8CI15

Predicted Effect

probably benign
Transcript: ENSMUST00000063396

SMART Domains

Protein: ENSMUSP00000064743
Gene: ENSMUSG00000061878

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: ENSMUST00000063446

SMART Domains

Protein: ENSMUSP00000067865
Gene: ENSMUSG00000061878

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 benign
Transcript: ENSMUST00000100201

SMART Domains

Protein: ENSMUSP00000097775
Gene: ENSMUSG00000061878

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 benign
Transcript: ENSMUST00000106386

SMART Domains

Protein: ENSMUSP00000101994
Gene: ENSMUSG00000061878

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: ENSMUST00000106387

SMART Domains

Protein: ENSMUSP00000101995
Gene: ENSMUSG00000061878

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: ENSMUST00000106388

SMART Domains

Protein: ENSMUSP00000101996
Gene: ENSMUSG00000061878

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: ENSMUST00000141798

SMART Domains

Protein: ENSMUSP00000131010
Gene: ENSMUSG00000061878

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

noncoding transcript
Transcript: ENSMUST00000134834

Predicted Effect

probably benign
Transcript: ENSMUST00000124682

SMART Domains

Protein: ENSMUSP00000116055
Gene: ENSMUSG00000061878

Domain	Start	End	E-Value	Type
DAGKc	16	153	1.19e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145737

SMART Domains

Protein: ENSMUSP00000114622
Gene: ENSMUSG00000061878

Domain	Start	End	E-Value	Type
DAGKc	15	152	1.19e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155102

SMART Domains

Protein: ENSMUSP00000114819
Gene: ENSMUSG00000061878

Domain	Start	End	E-Value	Type
Pfam:DAGK_cat	16	116	4.6e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150658

Predicted Effect

probably benign
Transcript: ENSMUST00000154034

SMART Domains

Protein: ENSMUSP00000121219
Gene: ENSMUSG00000061878

Domain	Start	End	E-Value	Type
DAGKc	15	152	1.19e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138840

SMART Domains

Protein: ENSMUSP00000121064
Gene: ENSMUSG00000061878

Domain	Start	End	E-Value	Type
DAGKc	15	152	1.19e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136526

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186169

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134102

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148185

Coding Region Coverage

1x: 72.9%
3x: 54.5%
10x: 17.9%
20x: 3.9%

Validation Efficiency

84% (31/37)

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: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arc	A	C	15: 74,543,188 (GRCm39)	L345R	probably damaging	Het
Fat2	A	T	11: 55,173,039 (GRCm39)	M2558K	possibly damaging	Het
Gper1	T	C	5: 139,412,243 (GRCm39)	V196A	probably benign	Het
Hars1	A	T	18: 36,906,628 (GRCm39)	I114N	probably damaging	Het
Mov10	C	T	3: 104,711,995 (GRCm39)	V199M	probably damaging	Het
Mttp	T	G	3: 137,818,327 (GRCm39)	D377A	possibly damaging	Het
Nlgn2	C	T	11: 69,716,556 (GRCm39)	A662T	probably benign	Het
P3h3	A	G	6: 124,830,099 (GRCm39)	I372T	probably damaging	Het
Plxnb2	T	A	15: 89,047,138 (GRCm39)	S753C	probably damaging	Het
Xylt2	C	A	11: 94,559,617 (GRCm39)	V342L	possibly damaging	Het

Other mutations in Sphk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4685:Sphk1	UTSW	11	116,426,106 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2012-11-20