Mutagenetix > Incidental Mutation

Incidental Mutation 'R0602:Sgms2'

55477

Institutional Source

Beutler Lab

Gene Symbol

Sgms2

Ensembl Gene

ENSMUSG00000050931

Gene Name

sphingomyelin synthase 2

Synonyms

5133401H06Rik, 4933405A16Rik

MMRRC Submission

038791-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R0602 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131112634-131197172 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 131118756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000087713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090246]

AlphaFold

Q9D4B1

Predicted Effect

probably null
Transcript: ENSMUST00000090246

SMART Domains

Protein: ENSMUSP00000087713
Gene: ENSMUSG00000050931

Domain	Start	End	E-Value	Type
low complexity region	32	41	N/A	INTRINSIC
transmembrane domain	79	101	N/A	INTRINSIC
transmembrane domain	127	149	N/A	INTRINSIC
transmembrane domain	154	176	N/A	INTRINSIC
Pfam:PAP2_C	220	293	5.5e-29	PFAM

Meta Mutation Damage Score

0.9490

Coding Region Coverage

1x: 99.6%
3x: 99.1%
10x: 97.5%
20x: 94.7%

Validation Efficiency

95% (58/61)

MGI Phenotype

FUNCTION: Sphingomyelin, a major component of cell and Golgi membranes, is made by the transfer of phosphocholine from phosphatidylcholine onto ceramide, with diacylglycerol as a side product. The protein encoded by this gene is an enzyme that catalyzes this reaction primarily at the cell membrane. The synthesis is reversible, and this enzyme can catalyze the reaction in either direction. The encoded protein is required for cell growth. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased ceramide levels; decreased sphingomyelin, sphingomyelin-1-phosphate, and diacylglycerol levels; and resistance to lysenin-mediated cytolysis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	T	C	7: 136,978,090 (GRCm39)		probably benign	Het
Arih1	A	G	9: 59,302,154 (GRCm39)		probably benign	Het
Bcl9	T	C	3: 97,113,102 (GRCm39)	I1118V	probably benign	Het
Cap1	T	C	4: 122,766,202 (GRCm39)	E12G	probably damaging	Het
Ccdc168	T	A	1: 44,099,127 (GRCm39)	K657I	possibly damaging	Het
Ccr2	A	G	9: 123,906,658 (GRCm39)	I313V	probably benign	Het
Cd1d2	T	C	3: 86,895,110 (GRCm39)	S161P	probably benign	Het
Cd226	C	T	18: 89,287,135 (GRCm39)	T311I	probably benign	Het
Col25a1	A	G	3: 130,369,063 (GRCm39)		probably null	Het
Cspg4	T	C	9: 56,795,301 (GRCm39)	F1012S	probably damaging	Het
Dnah7b	A	G	1: 46,364,002 (GRCm39)	M3541V	probably damaging	Het
Erbb2	G	A	11: 98,325,097 (GRCm39)	V852M	probably damaging	Het
Fer1l6	A	C	15: 58,449,794 (GRCm39)	T667P	probably damaging	Het
Gal3st2c	A	G	1: 93,936,901 (GRCm39)	Y282C	probably damaging	Het
Glp1r	T	C	17: 31,128,201 (GRCm39)	L60P	probably benign	Het
Gtf2h2	A	G	13: 100,605,533 (GRCm39)	V358A	probably benign	Het
H2ac18	T	C	3: 96,152,866 (GRCm39)		probably benign	Het
Hephl1	T	A	9: 15,000,347 (GRCm39)	I302F	probably damaging	Het
Lgi2	T	C	5: 52,711,765 (GRCm39)	D185G	probably damaging	Het
Lrtm1	T	C	14: 28,744,179 (GRCm39)		probably benign	Het
Megf10	T	G	18: 57,395,172 (GRCm39)	D511E	probably damaging	Het
Myo5c	A	G	9: 75,173,478 (GRCm39)		probably null	Het
Nrbf2	G	A	10: 67,103,605 (GRCm39)	T166M	probably damaging	Het
Nrm	C	A	17: 36,175,156 (GRCm39)	Y61*	probably null	Het
Ola1	A	G	2: 72,924,056 (GRCm39)	Y368H	probably damaging	Het
Or52s1	A	C	7: 102,861,787 (GRCm39)	H229P	possibly damaging	Het
Or9i1b	A	G	19: 13,897,145 (GRCm39)	T254A	probably benign	Het
Or9q2	T	C	19: 13,772,026 (GRCm39)		probably null	Het
Panx1	A	G	9: 14,921,500 (GRCm39)	L125P	probably damaging	Het
Pappa2	A	G	1: 158,590,625 (GRCm39)		probably benign	Het
Parp6	A	G	9: 59,556,648 (GRCm39)		probably benign	Het
Pomgnt2	A	G	9: 121,811,339 (GRCm39)	Y481H	probably benign	Het
Ppp4c	A	G	7: 126,388,254 (GRCm39)		probably benign	Het
Prl8a8	T	A	13: 27,692,533 (GRCm39)		probably benign	Het
Prpf40b	C	A	15: 99,202,352 (GRCm39)	A70E	unknown	Het
Ptgfr	G	A	3: 151,540,839 (GRCm39)	T223M	probably damaging	Het
Ptprc	C	T	1: 138,017,223 (GRCm39)		probably benign	Het
Rgs22	T	C	15: 36,140,018 (GRCm39)		probably benign	Het
Rpgrip1	A	G	14: 52,371,313 (GRCm39)	E344G	possibly damaging	Het
Sgca	A	T	11: 94,854,061 (GRCm39)	I383N	possibly damaging	Het
Slc9b1	C	A	3: 135,103,516 (GRCm39)	Q549K	probably benign	Het
Smc4	G	C	3: 68,916,871 (GRCm39)	A187P	probably damaging	Het
Smco1	A	G	16: 32,092,062 (GRCm39)	S47G	probably damaging	Het
Sobp	T	A	10: 42,898,385 (GRCm39)	E400V	probably damaging	Het
Sp140l1	C	G	1: 85,077,226 (GRCm39)	K113N	probably benign	Het
Stil	T	A	4: 114,881,620 (GRCm39)		probably benign	Het
Sult3a2	A	T	10: 33,658,044 (GRCm39)	M23K	probably benign	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tcof1	C	A	18: 60,966,605 (GRCm39)	G329W	probably damaging	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Vmn1r171	G	T	7: 23,332,602 (GRCm39)	V276L	probably benign	Het
Vps13b	T	C	15: 35,422,514 (GRCm39)	L158P	probably damaging	Het
Vps54	A	G	11: 21,256,434 (GRCm39)	I634M	possibly damaging	Het
Vwa8	T	G	14: 79,258,060 (GRCm39)	S736R	probably benign	Het

Other mutations in Sgms2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Sgms2	APN	3	131,135,482 (GRCm39)	missense	possibly damaging	0.91
IGL01839:Sgms2	APN	3	131,135,751 (GRCm39)	missense	possibly damaging	0.92
IGL02232:Sgms2	APN	3	131,116,833 (GRCm39)	missense	probably benign
R2183:Sgms2	UTSW	3	131,129,934 (GRCm39)	splice site	probably null
R4393:Sgms2	UTSW	3	131,135,466 (GRCm39)	splice site	probably null
R4457:Sgms2	UTSW	3	131,118,665 (GRCm39)	missense	probably damaging	1.00
R5050:Sgms2	UTSW	3	131,124,005 (GRCm39)	missense	probably benign
R5052:Sgms2	UTSW	3	131,124,005 (GRCm39)	missense	probably benign
R5088:Sgms2	UTSW	3	131,124,005 (GRCm39)	missense	probably benign
R5224:Sgms2	UTSW	3	131,135,766 (GRCm39)	missense	probably damaging	0.98
R5426:Sgms2	UTSW	3	131,135,446 (GRCm39)	missense	probably benign	0.01
R5682:Sgms2	UTSW	3	131,118,611 (GRCm39)	missense	probably damaging	0.99
R5735:Sgms2	UTSW	3	131,129,866 (GRCm39)	missense	probably damaging	1.00
R6892:Sgms2	UTSW	3	131,135,803 (GRCm39)	missense	probably benign
R7149:Sgms2	UTSW	3	131,129,908 (GRCm39)	missense	possibly damaging	0.78
R7762:Sgms2	UTSW	3	131,116,898 (GRCm39)	missense	probably benign	0.13
R9378:Sgms2	UTSW	3	131,136,011 (GRCm39)	start gained	probably benign
R9440:Sgms2	UTSW	3	131,118,718 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACCACCAAAACAGCCGTGTTGTG -3'
(R):5'- GCAAGCCCTAGAATATCTCCTTGCC -3'

Sequencing Primer
(F):5'- TGTGATATAGTAAGCAATGATGACG -3'
(R):5'- CTCTCTACCTGGTAAAAATGGAGGC -3'

Posted On

2013-07-11