Mutagenetix > Incidental Mutation

Incidental Mutation 'R4457:Sgms2'

329936

Institutional Source

Beutler Lab

Gene Symbol

Sgms2

Ensembl Gene

ENSMUSG00000050931

Gene Name

sphingomyelin synthase 2

Synonyms

5133401H06Rik, 4933405A16Rik

MMRRC Submission

041717-MU

Accession Numbers

Essential gene?

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

Stock #

R4457 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131112634-131197172 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 131118665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 273 (Y273D)

Ref Sequence

ENSEMBL: ENSMUSP00000087713 (fasta)

Gene Model

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

AlphaFold

Q9D4B1

Predicted Effect

probably damaging
Transcript: ENSMUST00000090246
AA Change: Y273D

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

SMART Domains

Protein: ENSMUSP00000087713
Gene: ENSMUSG00000050931
AA Change: Y273D

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

0.9610

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (62/64)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008E08Rik	A	G	16: 90,351,260 (GRCm39)		noncoding transcript	Het
1700025G04Rik	T	C	1: 151,796,805 (GRCm39)	R87G	probably damaging	Het
9030619P08Rik	T	A	15: 75,303,249 (GRCm39)		noncoding transcript	Het
Akap13	A	G	7: 75,389,213 (GRCm39)	D2377G	probably damaging	Het
Arhgef5	T	C	6: 43,251,027 (GRCm39)	S593P	probably damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Cfap73	T	C	5: 120,768,215 (GRCm39)	K181R	possibly damaging	Het
Chn1	A	G	2: 73,443,427 (GRCm39)	I383T	probably damaging	Het
Cmtr2	A	G	8: 110,948,884 (GRCm39)	D398G	probably benign	Het
Dnah12	T	C	14: 26,537,464 (GRCm39)	Y2238H	probably damaging	Het
Dnah7c	A	G	1: 46,779,781 (GRCm39)	N3161S	probably damaging	Het
Dnah8	C	A	17: 31,032,125 (GRCm39)	H4148Q	probably benign	Het
Ehbp1l1	T	C	19: 5,766,321 (GRCm39)	S397G	possibly damaging	Het
Eya4	A	T	10: 22,992,566 (GRCm39)	S462R	probably damaging	Het
Fam227b	T	A	2: 125,988,188 (GRCm39)		probably benign	Het
Frrs1	G	A	3: 116,690,377 (GRCm39)	V7I	probably benign	Het
Fsip2	G	T	2: 82,821,120 (GRCm39)	A5618S	possibly damaging	Het
Gja10	A	T	4: 32,601,073 (GRCm39)	M437K	probably benign	Het
Gm2840	T	G	5: 96,322,187 (GRCm39)		noncoding transcript	Het
Gm4956	A	G	1: 21,368,319 (GRCm39)		noncoding transcript	Het
Gria4	A	G	9: 4,427,074 (GRCm39)	W789R	probably damaging	Het
Hoxb5	A	G	11: 96,194,546 (GRCm39)	D36G	probably damaging	Het
Hps5	A	T	7: 46,433,037 (GRCm39)	C228S	probably benign	Het
Hspa4	A	T	11: 53,171,395 (GRCm39)	C270S	probably damaging	Het
Htra4	C	A	8: 25,528,674 (GRCm39)	A73S	possibly damaging	Het
Ikzf2	T	C	1: 69,723,347 (GRCm39)		probably benign	Het
Ivl	G	A	3: 92,479,673 (GRCm39)	H131Y	probably benign	Het
Kat6a	A	G	8: 23,422,129 (GRCm39)		probably null	Het
Lamp3	T	A	16: 19,492,279 (GRCm39)	M322L	probably benign	Het
Letmd1	T	C	15: 100,373,011 (GRCm39)	V37A	possibly damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myh1	G	A	11: 67,111,441 (GRCm39)	G1627R	probably benign	Het
Myo9b	A	G	8: 71,743,643 (GRCm39)	I235V	probably damaging	Het
Ndor1	A	G	2: 25,138,128 (GRCm39)		probably null	Het
Ndufa12	A	T	10: 94,056,680 (GRCm39)	K136M	probably damaging	Het
Or2t49	A	G	11: 58,392,944 (GRCm39)	L146P	probably damaging	Het
Or4a78	A	T	2: 89,497,427 (GRCm39)	S268T	probably benign	Het
Or51g2	C	T	7: 102,622,734 (GRCm39)	S155N	probably damaging	Het
Or5d44	A	G	2: 88,141,173 (GRCm39)		probably benign	Het
Pcdha2	A	G	18: 37,073,599 (GRCm39)	D410G	probably damaging	Het
Pcyox1l	T	A	18: 61,830,939 (GRCm39)	N311I	probably benign	Het
Pif1	A	G	9: 65,495,058 (GRCm39)		probably benign	Het
Pkp1	CTCTTCTT	CTCTT	1: 135,803,362 (GRCm39)		probably null	Het
Pogz	G	A	3: 94,763,374 (GRCm39)	V49I	probably benign	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rnf4	A	G	5: 34,508,705 (GRCm39)	Y189C	probably benign	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Slc25a10	G	A	11: 120,387,915 (GRCm39)	V203I	probably benign	Het
Slc4a2	T	A	5: 24,639,328 (GRCm39)		probably benign	Het
Tbc1d13	A	G	2: 30,025,450 (GRCm39)		probably benign	Het
Tdrd7	A	G	4: 46,007,526 (GRCm39)	N526S	probably benign	Het
Tet2	C	T	3: 133,191,324 (GRCm39)	D1037N	possibly damaging	Het
Thrb	T	A	14: 18,011,187 (GRCm38)	W188R	probably damaging	Het
Ttn	T	C	2: 76,777,257 (GRCm39)	M1382V	probably benign	Het
Usp9y	T	A	Y: 1,394,078 (GRCm39)	I551L	possibly damaging	Het
Vwde	T	C	6: 13,196,100 (GRCm39)	I308M	probably damaging	Het
Zan	T	C	5: 137,409,778 (GRCm39)	I3488V	unknown	Het
Zgrf1	A	T	3: 127,389,578 (GRCm39)	I375F	probably damaging	Het
Zic4	A	G	9: 91,261,315 (GRCm39)	K183R	probably damaging	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
R4393:Sgms2	UTSW	3	131,135,466 (GRCm39)	splice site	probably null
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'- GTCCATCCCATGAAGCGATC -3'
(R):5'- ATGCTGGAGTAGTCTTAACTGAGAC -3'

Sequencing Primer
(F):5'- TCCCATGAAGCGATCTAACAC -3'
(R):5'- TAGCGTGCATAAGACCTTGGATTCC -3'

Posted On

2015-07-21