Mutagenetix > Incidental Mutation

Incidental Mutation 'R4392:Sgpl1'

326422

Institutional Source

Beutler Lab

Gene Symbol

Sgpl1

Ensembl Gene

ENSMUSG00000020097

Gene Name

sphingosine phosphate lyase 1

Synonyms

D10Xrf456

MMRRC Submission

041127-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4392 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60934421-60983463 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 60940231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092498] [ENSMUST00000122259] [ENSMUST00000150258]

AlphaFold

Q8R0X7

Predicted Effect

probably benign
Transcript: ENSMUST00000092498

SMART Domains

Protein: ENSMUSP00000090155
Gene: ENSMUSG00000020097

Domain	Start	End	E-Value	Type
transmembrane domain	42	61	N/A	INTRINSIC
low complexity region	69	80	N/A	INTRINSIC
Pfam:Pyridoxal_deC	159	454	7.8e-21	PFAM
Pfam:Aminotran_1_2	169	326	3.3e-10	PFAM
Pfam:Aminotran_5	187	472	3.6e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122259

SMART Domains

Protein: ENSMUSP00000112975
Gene: ENSMUSG00000020097

Domain	Start	End	E-Value	Type
transmembrane domain	42	61	N/A	INTRINSIC
low complexity region	69	80	N/A	INTRINSIC
Pfam:Pyridoxal_deC	168	454	4.1e-23	PFAM
Pfam:Aminotran_1_2	169	326	3.3e-10	PFAM
Pfam:Aminotran_5	186	472	5.6e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143225

Predicted Effect

probably benign
Transcript: ENSMUST00000150258

SMART Domains

Protein: ENSMUSP00000117848
Gene: ENSMUSG00000020097

Domain	Start	End	E-Value	Type
transmembrane domain	42	61	N/A	INTRINSIC
low complexity region	69	80	N/A	INTRINSIC
Pfam:Pyridoxal_deC	167	454	2.6e-23	PFAM
Pfam:Aminotran_1_2	169	326	7.9e-10	PFAM
Pfam:Aminotran_5	187	471	1.1e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152316

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 96.1%
20x: 90.5%

Validation Efficiency

95% (69/73)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trapped allele exhibit premature death, skeletal and craniofacial defects, kidney defects, hematopoietic defects, decreased body weight and abnormal cell migration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	C	T	14: 54,822,435 (GRCm39)		probably null	Het
Abca13	A	C	11: 9,259,034 (GRCm39)	K2920T	possibly damaging	Het
Amy2b	T	G	3: 113,056,724 (GRCm39)		noncoding transcript	Het
Anapc1	T	C	2: 128,518,169 (GRCm39)		probably null	Het
Bmp7	T	G	2: 172,758,335 (GRCm39)	D178A	probably benign	Het
Brsk1	T	A	7: 4,701,749 (GRCm39)	I170N	probably damaging	Het
Bub3	C	T	7: 131,168,064 (GRCm39)	A187V	probably benign	Het
Cacna2d2	A	G	9: 107,277,479 (GRCm39)	H71R	possibly damaging	Het
Cdrt4	A	T	11: 62,842,179 (GRCm39)	K20N	probably benign	Het
Clec12a	A	T	6: 129,330,427 (GRCm39)		probably benign	Het
Col12a1	T	A	9: 79,569,770 (GRCm39)	Y1600F	probably damaging	Het
Cyp2a12	T	A	7: 26,728,700 (GRCm39)	I57N	probably damaging	Het
Dip2b	T	C	15: 100,059,917 (GRCm39)	L223P	probably damaging	Het
Dnah5	G	A	15: 28,289,375 (GRCm39)	R1188H	probably benign	Het
Dop1a	T	C	9: 86,385,196 (GRCm39)		probably benign	Het
Efcab5	T	A	11: 76,981,284 (GRCm39)	N1354I	probably damaging	Het
Eif4b	T	A	15: 101,995,076 (GRCm39)		probably null	Het
Erlec1	A	G	11: 30,893,697 (GRCm39)		probably null	Het
Esp24	T	C	17: 39,350,968 (GRCm39)		probably benign	Het
Esp34	T	C	17: 38,870,382 (GRCm39)	V24A	possibly damaging	Het
Fbxw15	T	A	9: 109,397,300 (GRCm39)		probably benign	Het
Foxc2	T	C	8: 121,844,191 (GRCm39)	S280P	probably damaging	Het
Gm21738	G	C	14: 19,417,178 (GRCm38)	L117V	probably benign	Het
Grk3	A	G	5: 113,068,002 (GRCm39)	F467S	probably damaging	Het
Grwd1	C	T	7: 45,477,204 (GRCm39)	G228S	probably damaging	Het
Gtf2i	T	C	5: 134,289,483 (GRCm39)	E399G	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Ift56	A	G	6: 38,358,492 (GRCm39)		probably benign	Het
Lhx4	A	G	1: 155,585,880 (GRCm39)	Y83H	probably damaging	Het
Mdga1	T	C	17: 30,069,630 (GRCm39)	T413A	probably damaging	Het
Mideas	A	T	12: 84,219,885 (GRCm39)	D356E	probably benign	Het
Mmrn2	T	A	14: 34,119,573 (GRCm39)	L184H	probably damaging	Het
Mroh2a	C	T	1: 88,187,311 (GRCm39)	R133C	probably damaging	Het
Myh13	A	C	11: 67,235,707 (GRCm39)		probably null	Het
Nkain3	C	A	4: 20,282,985 (GRCm39)	R116L	possibly damaging	Het
Nxph2	A	C	2: 23,290,284 (GRCm39)	Q212P	probably damaging	Het
Or4f7d-ps1	T	C	2: 111,674,690 (GRCm39)		noncoding transcript	Het
Or4k15c	A	G	14: 50,322,060 (GRCm39)	F26S	probably benign	Het
Otog	T	C	7: 45,934,548 (GRCm39)	Y1369H	probably damaging	Het
Prl	A	G	13: 27,248,334 (GRCm39)	I131V	possibly damaging	Het
Ptprg	A	T	14: 12,142,467 (GRCm38)	I373F	possibly damaging	Het
Rad18	A	T	6: 112,670,490 (GRCm39)	C25S	probably damaging	Het
Rgs12	A	G	5: 35,189,655 (GRCm39)	T678A	probably damaging	Het
Scaper	T	A	9: 55,765,399 (GRCm39)	E557V	probably damaging	Het
Scube3	C	T	17: 28,383,762 (GRCm39)	P511L	probably null	Het
Slc10a1	C	A	12: 81,014,578 (GRCm39)	E47D	probably damaging	Het
Sptbn4	T	C	7: 27,117,896 (GRCm39)	N369S	probably damaging	Het
Sstr5	T	C	17: 25,710,198 (GRCm39)	T344A	probably benign	Het
Tgm4	C	T	9: 122,895,817 (GRCm39)	T631I	probably benign	Het
Tmprss15	A	G	16: 78,821,326 (GRCm39)	Y457H	probably damaging	Het
Trpm7	A	T	2: 126,637,429 (GRCm39)		probably null	Het
Trpm7	A	T	2: 126,690,458 (GRCm39)	W207R	probably damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Usp2	A	T	9: 44,002,556 (GRCm39)	H384L	probably damaging	Het
Vmn2r27	C	T	6: 124,207,135 (GRCm39)	V169I	probably benign	Het
Vopp1	A	C	6: 57,739,461 (GRCm39)	F29C	probably damaging	Het
Wrn	T	C	8: 33,741,860 (GRCm39)	D953G	probably damaging	Het
Zfp759	T	A	13: 67,287,707 (GRCm39)	C419*	probably null	Het

Other mutations in Sgpl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Sgpl1	APN	10	60,936,687 (GRCm39)	missense	probably benign	0.00
IGL01376:Sgpl1	APN	10	60,949,849 (GRCm39)	missense	probably damaging	1.00
IGL01954:Sgpl1	APN	10	60,936,672 (GRCm39)	missense	probably benign	0.00
IGL02668:Sgpl1	APN	10	60,941,229 (GRCm39)	missense	probably damaging	0.97
IGL02797:Sgpl1	APN	10	60,937,507 (GRCm39)	missense	probably benign	0.01
R0034:Sgpl1	UTSW	10	60,938,392 (GRCm39)	missense	probably damaging	0.97
R0309:Sgpl1	UTSW	10	60,949,216 (GRCm39)	critical splice donor site	probably null
R0647:Sgpl1	UTSW	10	60,949,267 (GRCm39)	missense	probably damaging	1.00
R1496:Sgpl1	UTSW	10	60,938,368 (GRCm39)	missense	probably damaging	1.00
R1603:Sgpl1	UTSW	10	60,941,230 (GRCm39)	missense	possibly damaging	0.95
R1941:Sgpl1	UTSW	10	60,939,086 (GRCm39)	missense	probably damaging	1.00
R4097:Sgpl1	UTSW	10	60,939,017 (GRCm39)	missense	probably damaging	1.00
R4798:Sgpl1	UTSW	10	60,959,123 (GRCm39)	missense	possibly damaging	0.83
R4849:Sgpl1	UTSW	10	60,940,297 (GRCm39)	missense	probably benign	0.00
R4882:Sgpl1	UTSW	10	60,948,044 (GRCm39)	missense	probably damaging	1.00
R4962:Sgpl1	UTSW	10	60,949,863 (GRCm39)	missense	probably damaging	1.00
R6395:Sgpl1	UTSW	10	60,947,936 (GRCm39)	splice site	probably null
R7767:Sgpl1	UTSW	10	60,953,502 (GRCm39)	missense	possibly damaging	0.50
R7947:Sgpl1	UTSW	10	60,942,121 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGGCAAGGGTCAGACTGTAC -3'
(R):5'- AGAGTAGCCCATCTTTCCACTC -3'

Sequencing Primer
(F):5'- CTTAGAGGTCTCAGATGCTCAAGC -3'
(R):5'- CCACTCCTATTCTGCTTAGGG -3'

Posted On

2015-07-06