Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01819:Sphk2'

154458

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sphk2

Ensembl Gene

ENSMUSG00000057342

Gene Name

sphingosine kinase 2

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01819

Quality Score

Status

Chromosome

Chromosomal Location

45709467-45718002 bp(-) (GRCm38)

Type of Mutation

splice site (942 bp from exon)

DNA Base Change (assembly)

A to G at 45711056 bp

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]

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

probably null
Transcript: ENSMUST00000211513

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,584,561	S105P	probably benign	Het
Adora2b	A	G	11: 62,265,184	N153S	possibly damaging	Het
Afm	C	T	5: 90,524,906	T200I	probably benign	Het
Cyp2c67	T	C	19: 39,615,721	D397G	probably damaging	Het
Dnah9	A	G	11: 66,108,126	V1032A	probably benign	Het
Elovl7	T	G	13: 108,274,320	V143G	probably damaging	Het
Fhl4	T	C	10: 85,098,870	K16E	probably damaging	Het
Golga1	C	T	2: 39,034,149	C383Y	probably benign	Het
Gucy1a2	C	T	9: 3,865,409	R628*	probably null	Het
Hectd4	A	G	5: 121,328,418	D2432G	possibly damaging	Het
Iqcf5	T	A	9: 106,515,990	*149R	probably null	Het
Kcnab1	T	A	3: 65,319,454	Y185N	probably damaging	Het
Lars	G	T	18: 42,202,550	T1167K	probably benign	Het
Mib2	A	T	4: 155,655,258		probably null	Het
Mrps2	T	C	2: 28,468,336	V46A	probably benign	Het
Myo18b	T	C	5: 112,878,050	T45A	unknown	Het
Myo1e	C	T	9: 70,343,040		probably benign	Het
Olfr1129	A	G	2: 87,575,479	I132V	probably damaging	Het
Olfr1285	T	A	2: 111,408,733	V106E	probably damaging	Het
Osbp2	A	T	11: 3,717,127	I8N	probably damaging	Het
Pcdhb22	A	T	18: 37,519,921	N481Y	probably damaging	Het
Pde3a	T	C	6: 141,487,537	W765R	probably damaging	Het
Phf11c	T	C	14: 59,393,137	T40A	probably benign	Het
Pih1d2	T	A	9: 50,621,877	S268R	probably benign	Het
Pkd1l2	T	C	8: 116,998,174	N2333D	probably damaging	Het
Prex1	A	G	2: 166,621,245	I62T	probably damaging	Het
Ptcd2	T	C	13: 99,326,711	N245S	possibly damaging	Het
Ripor3	C	A	2: 167,980,843	V933F	probably damaging	Het
Tfcp2	T	G	15: 100,504,439	E492D	probably benign	Het
Ttn	C	T	2: 76,798,762	V14411I	possibly damaging	Het
Utp20	T	C	10: 88,792,687	Q915R	probably damaging	Het
Vmn2r45	C	A	7: 8,485,557	S158I	probably benign	Het

Other mutations in Sphk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01672:Sphk2	APN	7	45711653	missense	possibly damaging	0.89
IGL01943:Sphk2	APN	7	45710724	unclassified	probably benign
IGL01981:Sphk2	APN	7	45710733	missense	probably benign	0.01
R0270:Sphk2	UTSW	7	45710725	makesense	probably null
R1385:Sphk2	UTSW	7	45712291	missense	probably damaging	1.00
R1581:Sphk2	UTSW	7	45713496	missense	probably damaging	1.00
R1634:Sphk2	UTSW	7	45711540	missense	probably benign	0.03
R2009:Sphk2	UTSW	7	45711013	missense	probably damaging	0.99
R4755:Sphk2	UTSW	7	45713634	missense	possibly damaging	0.65
R5092:Sphk2	UTSW	7	45712353	critical splice acceptor site	probably null
R6407:Sphk2	UTSW	7	45712600	missense	possibly damaging	0.63
R7320:Sphk2	UTSW	7	45712470	missense	possibly damaging	0.87
R7418:Sphk2	UTSW	7	45711756	missense	probably damaging	1.00
R7584:Sphk2	UTSW	7	45712507	missense	probably damaging	1.00
R7585:Sphk2	UTSW	7	45711582	missense	probably benign

Posted On

2014-02-04