Mutagenetix > Incidental Mutations

Incidental Mutation 'R5426:Sgms2'

426864

Institutional Source

Beutler Lab

Gene Symbol

Sgms2

Ensembl Gene

ENSMUSG00000050931

Gene Name

sphingomyelin synthase 2

Synonyms

4933405A16Rik, 5133401H06Rik

MMRRC Submission

042992-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.213) question?

Stock #

R5426 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131318985-131491411 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131341797 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 143 (I143V)

Ref Sequence

ENSEMBL: ENSMUSP00000087713 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000090246
AA Change: I143V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000087713
Gene: ENSMUSG00000050931
AA Change: I143V

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 benign
Transcript: ENSMUST00000126569

Predicted Effect

probably benign
Transcript: ENSMUST00000197057

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200431

Meta Mutation Damage Score

0.0710

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

97% (85/88)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,294,003	H122L	probably damaging	Het
9330182O14Rik	G	A	15: 40,148,536	M90I	unknown	Het
9330182O14Rik	G	A	15: 40,148,537	D91N	unknown	Het
Abca13	T	A	11: 9,290,722	S862T	probably damaging	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adgb	C	A	10: 10,350,260	A1405S	probably benign	Het
Adpgk	T	A	9: 59,297,549	V86E	probably damaging	Het
Agfg2	G	C	5: 137,667,758	P80A	probably damaging	Het
Akap11	G	A	14: 78,498,864	Q1829*	probably null	Het
Aldh1l1	G	A	6: 90,559,299	R62Q	probably benign	Het
Als2cr12	T	A	1: 58,666,886	K275*	probably null	Het
Amd1	G	T	10: 40,290,187	D265E	probably damaging	Het
Aox4	A	T	1: 58,220,094	Q106L	probably damaging	Het
Arap2	A	T	5: 62,642,816	N1289K	probably benign	Het
Arhgef12	T	C	9: 42,986,584	S874G	probably damaging	Het
BC067074	G	A	13: 113,369,053	V2239I	probably benign	Het
C87499	T	A	4: 88,629,410		probably benign	Het
Ccdc166	T	C	15: 75,982,096	Q45R	possibly damaging	Het
Cdc45	C	T	16: 18,795,897	R205H	probably damaging	Het
Cdk14	A	G	5: 4,888,975	S388P	possibly damaging	Het
Chgb	A	T	2: 132,793,533	Q465L	possibly damaging	Het
Commd9	T	A	2: 101,898,875	W109R	probably damaging	Het
Cyp2b9	T	C	7: 26,187,655	V163A	probably benign	Het
Dcpp2	T	A	17: 23,899,313	H27Q	possibly damaging	Het
Ddn	T	A	15: 98,806,466	E315V	possibly damaging	Het
Defb29	C	A	2: 152,538,948	C47F	probably damaging	Het
Dnah7b	T	C	1: 46,242,206	M2809T	possibly damaging	Het
Dock4	A	T	12: 40,745,745	I854F	probably damaging	Het
Dsg4	T	C	18: 20,458,484	Y427H	probably damaging	Het
E130114P18Rik	C	T	4: 97,690,670	A23T	unknown	Het
Gemin5	A	G	11: 58,125,287	S1297P	probably benign	Het
Gm10309	A	C	17: 86,498,733		probably benign	Het
Gm884	A	T	11: 103,620,760	H127Q	unknown	Het
Gpatch11	T	A	17: 78,841,234	S155R	possibly damaging	Het
Grin2b	C	A	6: 135,732,368	Q1393H	probably damaging	Het
Heatr5b	C	T	17: 78,773,713	C1370Y	probably damaging	Het
Hmcn2	C	T	2: 31,336,544	T177I	possibly damaging	Het
Ildr1	A	T	16: 36,709,619	I123F	probably damaging	Het
Kalrn	A	T	16: 34,262,653	V644D	probably damaging	Het
Kifap3	A	G	1: 163,779,871	M1V	probably null	Het
Klhl11	A	G	11: 100,464,116	L293P	probably damaging	Het
Klrc3	G	A	6: 129,641,550	S98L	probably benign	Het
Med12l	G	A	3: 59,248,722	M1220I	probably damaging	Het
Ms4a7	C	T	19: 11,325,802		probably null	Het
Mybpc2	A	G	7: 44,509,829	V599A	probably benign	Het
Naalad2	T	C	9: 18,347,519	N487D	probably benign	Het
Nat8f7	T	G	6: 85,707,823	S12R	probably benign	Het
Nefm	T	A	14: 68,120,066		probably benign	Het
Nlrp5	T	C	7: 23,418,201	V450A	probably damaging	Het
Nps	G	A	7: 135,268,647		probably null	Het
Olfr1247	T	C	2: 89,609,739	Y121C	probably damaging	Het
Olfr142	T	A	2: 90,252,611	K126*	probably null	Het
Olfr159	A	G	4: 43,770,168	I281T	probably benign	Het
Olfr192	G	T	16: 59,098,302	P230Q	possibly damaging	Het
Olfr492	T	C	7: 108,322,810	N289D	probably damaging	Het
Olfr513	T	C	7: 108,755,717	L287P	possibly damaging	Het
Olfr698	C	A	7: 106,752,566	S274I	probably benign	Het
Oxct2a	C	A	4: 123,322,713	G292W	possibly damaging	Het
Prr27	T	C	5: 87,850,885		probably benign	Het
Ptx3	T	C	3: 66,220,722	M68T	probably damaging	Het
Rufy1	A	G	11: 50,421,734	L131S	probably damaging	Het
Sept7	T	A	9: 25,286,690	I100N	possibly damaging	Het
Slc25a34	A	G	4: 141,623,566	V44A	probably damaging	Het
Slc28a3	T	A	13: 58,563,154	D518V	probably damaging	Het
Slc6a7	C	T	18: 61,003,236		probably null	Het
Slco4a1	C	A	2: 180,471,235	A420D	possibly damaging	Het
Smap1	T	C	1: 23,849,390	T180A	probably benign	Het
Specc1l	T	C	10: 75,267,550	S920P	probably benign	Het
Tgtp2	A	G	11: 49,059,256	M163T	probably benign	Het
Tiam1	G	T	16: 89,865,392	Q613K	possibly damaging	Het
Vsig10l	T	A	7: 43,464,823	S190T	probably damaging	Het
Vwa3b	A	G	1: 37,115,671	Y512C	probably damaging	Het
Wdfy3	T	A	5: 101,919,446	N1207Y	probably damaging	Het
Wdr17	C	T	8: 54,681,399	G349R	probably damaging	Het
Wdr70	A	G	15: 7,922,105	L417S	possibly damaging	Het
Wdr81	A	C	11: 75,450,896	S1182A	possibly damaging	Het
Zfp458	A	T	13: 67,257,192	C391*	probably null	Het
Zfp638	A	G	6: 83,976,414	E1167G	probably damaging	Het
Zfp763	T	A	17: 33,019,595	D192V	probably benign	Het
Zfp853	T	G	5: 143,288,869	Q332P	unknown	Het

Other mutations in Sgms2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Sgms2	APN	3	131341833	missense	possibly damaging	0.91
IGL01839:Sgms2	APN	3	131342102	missense	possibly damaging	0.92
IGL02232:Sgms2	APN	3	131323184	missense	probably benign
R0602:Sgms2	UTSW	3	131325107	critical splice acceptor site	probably null
R2183:Sgms2	UTSW	3	131336285	splice site	probably null
R4393:Sgms2	UTSW	3	131341817	splice site	probably null
R4457:Sgms2	UTSW	3	131325016	missense	probably damaging	1.00
R5050:Sgms2	UTSW	3	131330356	missense	probably benign
R5052:Sgms2	UTSW	3	131330356	missense	probably benign
R5088:Sgms2	UTSW	3	131330356	missense	probably benign
R5224:Sgms2	UTSW	3	131342117	missense	probably damaging	0.98
R5682:Sgms2	UTSW	3	131324962	missense	probably damaging	0.99
R5735:Sgms2	UTSW	3	131336217	missense	probably damaging	1.00
R6892:Sgms2	UTSW	3	131342154	missense	probably benign
R7149:Sgms2	UTSW	3	131336259	missense	possibly damaging	0.78
R7762:Sgms2	UTSW	3	131323249	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TACATGGTCACTCAGTGCATGC -3'
(R):5'- ATCGCCTTTGTGTATGCGC -3'

Sequencing Primer
(F):5'- GTCACTCAGTGCATGCTTATGGAAC -3'
(R):5'- TGTGTATGCGCTCTTCAACC -3'

Posted On

2016-09-01