Mutagenetix > Incidental Mutation

Incidental Mutation 'R4393:Sgms2'

326457

Institutional Source

Beutler Lab

Gene Symbol

Sgms2

Ensembl Gene

ENSMUSG00000050931

Gene Name

sphingomyelin synthase 2

Synonyms

5133401H06Rik, 4933405A16Rik

MMRRC Submission

041128-MU

Accession Numbers

Essential gene?

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

Stock #

R4393 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131112634-131197172 bp(-) (GRCm39)

Type of Mutation

splice site (352 bp from exon)

DNA Base Change (assembly)

A to T at 131135466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143170 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090246] [ENSMUST00000126569] [ENSMUST00000197057]

AlphaFold

Q9D4B1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090246
AA Change: M136K

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000087713
Gene: ENSMUSG00000050931
AA Change: M136K

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

Predicted Effect

probably null
Transcript: ENSMUST00000126569

Predicted Effect

probably null
Transcript: ENSMUST00000197057

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200431

Meta Mutation Damage Score

0.2168

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.5%
20x: 92.4%

Validation Efficiency

95% (71/75)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433N12Rik	C	A	9: 3,134,944 (GRCm39)		noncoding transcript	Het
Adgrg4	T	G	X: 55,977,703 (GRCm39)	L2193V	probably damaging	Het
Adgrl1	T	C	8: 84,665,222 (GRCm39)	V1353A	probably benign	Het
Cep68	A	T	11: 20,188,544 (GRCm39)	N620K	probably benign	Het
Clcnkb	A	G	4: 141,139,547 (GRCm39)	S152P	probably benign	Het
Crybg3	A	G	16: 59,380,458 (GRCm39)		probably benign	Het
Cyp26c1	G	A	19: 37,675,105 (GRCm39)	R142H	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dlg5	T	A	14: 24,228,057 (GRCm39)		probably null	Het
Dnai7	T	C	6: 145,140,304 (GRCm39)	T166A	possibly damaging	Het
Ebf3	C	T	7: 136,826,886 (GRCm39)	R342H	probably damaging	Het
Ece2	T	C	16: 20,451,598 (GRCm39)	V380A	probably damaging	Het
Epb41l4a	C	T	18: 34,024,473 (GRCm39)		probably null	Het
Erbb3	G	T	10: 128,408,639 (GRCm39)	Q815K	probably damaging	Het
Ercc3	T	A	18: 32,398,674 (GRCm39)	M651K	probably benign	Het
Fam3b	C	A	16: 97,282,986 (GRCm39)		probably null	Het
Foxp2	A	C	6: 15,377,689 (GRCm39)		probably benign	Het
Gdf10	T	C	14: 33,654,695 (GRCm39)	Y401H	probably damaging	Het
Gm21738	G	C	14: 19,417,178 (GRCm38)	L117V	probably benign	Het
Gm6408	A	T	5: 146,419,147 (GRCm39)	D54V	probably damaging	Het
H2-T5	C	A	17: 36,472,861 (GRCm39)		probably benign	Het
Hcn4	A	G	9: 58,751,583 (GRCm39)	E403G	unknown	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hjurp	A	G	1: 88,194,283 (GRCm39)		probably benign	Het
Hyou1	T	A	9: 44,293,169 (GRCm39)	V125E	probably damaging	Het
Il11ra1	T	C	4: 41,768,577 (GRCm39)		probably null	Het
Immt	T	A	6: 71,849,784 (GRCm39)	S435T	probably benign	Het
Kcnip2	A	G	19: 45,800,669 (GRCm39)	L19P	probably benign	Het
Kctd2	T	C	11: 115,320,326 (GRCm39)		probably benign	Het
Mdga1	T	C	17: 30,069,491 (GRCm39)	D185G	probably damaging	Het
Mdn1	C	T	4: 32,754,482 (GRCm39)	T4666M	possibly damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Msl2	A	G	9: 100,978,676 (GRCm39)	E350G	probably damaging	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Myo3a	A	T	2: 22,467,866 (GRCm39)	K373N	probably damaging	Het
Nr5a1	T	C	2: 38,584,231 (GRCm39)	E396G	probably damaging	Het
Ogdh	G	A	11: 6,266,772 (GRCm39)	G141D	probably damaging	Het
Or10q1b	T	C	19: 13,682,554 (GRCm39)	I121T	possibly damaging	Het
Or2h2c	T	C	17: 37,424,971 (GRCm39)		probably benign	Het
Or5w1b	A	T	2: 87,476,256 (GRCm39)	C70*	probably null	Het
Orc2	C	A	1: 58,506,809 (GRCm39)		probably null	Het
P4ha3	C	T	7: 99,954,814 (GRCm39)	P291S	probably benign	Het
Pign	T	C	1: 105,449,751 (GRCm39)	K925R	probably benign	Het
Plekhm1	A	G	11: 103,267,791 (GRCm39)	S727P	possibly damaging	Het
Prr36	G	T	8: 4,264,901 (GRCm39)		probably benign	Het
Prrt3	A	G	6: 113,471,907 (GRCm39)	L755P	probably benign	Het
Secisbp2	A	G	13: 51,808,502 (GRCm39)	H89R	probably damaging	Het
Slc35d3	T	C	10: 19,725,352 (GRCm39)		probably null	Het
Slu7	T	A	11: 43,330,096 (GRCm39)	N174K	possibly damaging	Het
Teddm1a	G	T	1: 153,768,192 (GRCm39)	D219Y	probably damaging	Het
Tgtp1	C	A	11: 48,878,450 (GRCm39)	G85V	probably damaging	Het
Tmem51	T	C	4: 141,759,242 (GRCm39)	T169A	probably benign	Het
Tmem69	C	T	4: 116,411,964 (GRCm39)		probably null	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Vwa3b	T	C	1: 37,084,259 (GRCm39)	V144A	probably damaging	Het
Zdhhc21	A	G	4: 82,765,891 (GRCm39)	C15R	possibly damaging	Het
Zfp142	T	C	1: 74,611,219 (GRCm39)	T756A	probably benign	Het
Zfp606	C	T	7: 12,226,776 (GRCm39)	S241F	probably damaging	Het
Zfp804a	A	T	2: 82,087,265 (GRCm39)	T365S	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
R0602:Sgms2	UTSW	3	131,118,756 (GRCm39)	critical splice acceptor site	probably null
R2183:Sgms2	UTSW	3	131,129,934 (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'- GCATATGCAATTCCGTCTACGC -3'
(R):5'- CCAAGAACAAGTTTCCCCTGG -3'

Sequencing Primer
(F):5'- CCTCCTTTCCTCAAATGCCTAGG -3'
(R):5'- AACAAGTTTCCCCTGGAGTGG -3'

Posted On

2015-07-06