Mutagenetix > Incidental Mutation

Incidental Mutation 'R7207:Sphk1'

560716

Institutional Source

Beutler Lab

Gene Symbol

Sphk1

Ensembl Gene

ENSMUSG00000061878

Gene Name

sphingosine kinase 1

Synonyms

1110006G24Rik, SK1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7207 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116421751-116427501 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116426590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 182 (D182V)

Ref Sequence

ENSEMBL: ENSMUSP00000131010 (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: D176V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064743
Gene: ENSMUSG00000061878
AA Change: D176V

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: D176V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067865
Gene: ENSMUSG00000061878
AA Change: D176V

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: D175V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097775
Gene: ENSMUSG00000061878
AA Change: D175V

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: D176V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101994
Gene: ENSMUSG00000061878
AA Change: D176V

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: D176V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101995
Gene: ENSMUSG00000061878
AA Change: D176V

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: D176V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101996
Gene: ENSMUSG00000061878
AA Change: D176V

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: D182V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131010
Gene: ENSMUSG00000061878
AA Change: D182V

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 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: ENSMUST00000138840

SMART Domains

Protein: ENSMUSP00000121064
Gene: ENSMUSG00000061878

Domain	Start	End	E-Value	Type
DAGKc	15	152	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 damaging
Transcript: ENSMUST00000154034
AA Change: D175V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121219
Gene: ENSMUSG00000061878
AA Change: D175V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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. 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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,527,734 (GRCm39)	Y1019H	probably benign	Het
Adam11	C	A	11: 102,662,883 (GRCm39)	A212D	probably benign	Het
Adamts13	C	A	2: 26,868,707 (GRCm39)	H230Q	probably damaging	Het
Adgrl3	G	A	5: 81,457,874 (GRCm39)	M1I	probably null	Het
Agap1	A	T	1: 89,770,821 (GRCm39)	H657L	possibly damaging	Het
Ano3	T	C	2: 110,611,768 (GRCm39)	D238G	probably damaging	Het
Atp8b5	A	T	4: 43,357,018 (GRCm39)	I589F	probably damaging	Het
Bmp1	C	T	14: 70,717,000 (GRCm39)	A859T	possibly damaging	Het
Cdh20	C	A	1: 104,921,702 (GRCm39)	D666E	probably damaging	Het
Cep135	T	G	5: 76,780,090 (GRCm39)	D807E	probably benign	Het
Cldn13	G	A	5: 134,943,766 (GRCm39)	H140Y	probably benign	Het
Cnksr1	G	T	4: 133,962,434 (GRCm39)	Q155K	possibly damaging	Het
Col1a1	G	A	11: 94,829,352 (GRCm39)	R121Q	unknown	Het
Coro6	G	A	11: 77,358,089 (GRCm39)	A225T	possibly damaging	Het
Ctse	C	A	1: 131,592,112 (GRCm39)	T146K	possibly damaging	Het
Dhrs7b	C	A	11: 60,746,623 (GRCm39)	Y237*	probably null	Het
Dnah3	A	G	7: 119,570,312 (GRCm39)	F2303L	probably damaging	Het
Dsg2	T	A	18: 20,734,516 (GRCm39)	D831E	probably damaging	Het
Dst	T	C	1: 34,202,418 (GRCm39)	S575P	probably damaging	Het
Epg5	T	C	18: 77,992,170 (GRCm39)	L289P	probably damaging	Het
Etl4	A	G	2: 20,714,387 (GRCm39)	N162S	probably damaging	Het
Fbf1	A	T	11: 116,040,300 (GRCm39)	Y602N	probably benign	Het
Fgd4	A	T	16: 16,302,420 (GRCm39)	M45K	probably benign	Het
Fryl	C	T	5: 73,222,438 (GRCm39)	V2048I	probably benign	Het
Gulp1	T	C	1: 44,805,292 (GRCm39)	V127A	possibly damaging	Het
H2-DMb1	T	A	17: 34,376,490 (GRCm39)	I203N	probably damaging	Het
Harbi1	T	C	2: 91,542,790 (GRCm39)	S84P	probably damaging	Het
Hrh2	T	C	13: 54,368,266 (GRCm39)	S81P	possibly damaging	Het
Iars1	T	C	13: 49,841,791 (GRCm39)		probably null	Het
Kcnma1	T	C	14: 23,359,083 (GRCm39)	*1087W	probably null	Het
Lama5	T	A	2: 179,848,877 (GRCm39)	N241I	probably damaging	Het
Lig4	T	A	8: 10,022,101 (GRCm39)	K560*	probably null	Het
Lpin3	G	T	2: 160,735,923 (GRCm39)	E68*	probably null	Het
Mrtfb	A	T	16: 13,144,300 (GRCm39)	I7L	probably benign	Het
Msrb3	A	T	10: 120,627,305 (GRCm39)		probably null	Het
Muc5b	A	G	7: 141,416,602 (GRCm39)	T3183A	probably benign	Het
Mx1	T	A	16: 97,253,398 (GRCm39)	D342V	probably benign	Het
Nrap	G	T	19: 56,333,953 (GRCm39)	T1003K	probably damaging	Het
Or8u10	A	G	2: 85,915,159 (GRCm39)	S321P	possibly damaging	Het
Plxna2	C	T	1: 194,326,327 (GRCm39)	P87L	probably damaging	Het
Pms2	C	T	5: 143,850,452 (GRCm39)	T89I	probably damaging	Het
Ppp1r12c	C	A	7: 4,492,867 (GRCm39)	R203L	probably damaging	Het
Pramel31	A	G	4: 144,088,473 (GRCm39)	T90A	probably benign	Het
Rab44	C	T	17: 29,357,013 (GRCm39)	Q48*	probably null	Het
Rgs14	T	C	13: 55,531,047 (GRCm39)	V417A	probably benign	Het
Sgms1	T	A	19: 32,120,147 (GRCm39)	K253M	probably null	Het
Sidt2	T	C	9: 45,856,449 (GRCm39)	Y492C	probably damaging	Het
Slco1a5	G	T	6: 142,194,475 (GRCm39)	Y389*	probably null	Het
Slfn14	G	A	11: 83,170,214 (GRCm39)	Q477*	probably null	Het
Sorbs3	T	C	14: 70,438,934 (GRCm39)	K142R	probably damaging	Het
Srsf9	C	G	5: 115,465,481 (GRCm39)	Y38*	probably null	Het
Stk40	A	C	4: 126,019,547 (GRCm39)	E107A	probably damaging	Het
Syngr4	T	C	7: 45,538,101 (GRCm39)	Y89C	possibly damaging	Het
Tead1	G	A	7: 112,441,287 (GRCm39)	R109H	possibly damaging	Het
Thra	A	G	11: 98,651,802 (GRCm39)	Q108R	probably damaging	Het
Tnni3k	G	A	3: 154,580,782 (GRCm39)	T621I	probably damaging	Het
Trim3	A	C	7: 105,262,583 (GRCm39)	V525G	possibly damaging	Het
Usp49	T	C	17: 47,989,802 (GRCm39)	V529A	probably benign	Het
Vill	A	T	9: 118,900,281 (GRCm39)	Q849L	possibly damaging	Het
Vps36	T	A	8: 22,701,623 (GRCm39)	S237T	probably benign	Het
Zar1l	A	T	5: 150,430,558 (GRCm39)	C284*	probably null	Het
Zfp948	T	C	17: 21,808,602 (GRCm39)	V598A	possibly damaging	Het
Zfp952	T	C	17: 33,222,489 (GRCm39)	Y323H	possibly damaging	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
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
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'- TCTGCTGTCACTGACTCCAG -3'
(R):5'- AATGAGAAGGCACTGGCTCC -3'

Sequencing Primer
(F):5'- ACCACGGTTGCACTGCTAG -3'
(R):5'- TCCAGAGGAACAAGGTGTGTGTC -3'

Posted On

2019-06-26