Mutagenetix > Incidental Mutation

Incidental Mutation 'R7207:Sgms1'

560733

Institutional Source

Beutler Lab

Gene Symbol

Sgms1

Ensembl Gene

ENSMUSG00000040451

Gene Name

sphingomyelin synthase 1

Synonyms

SMS1beta, SMS1gamma, SMS1alpha2, 9530058O11Rik, SMS1, Tmem23, SMS1alpha1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R7207 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32100127-32367114 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32120147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 253 (K253M)

Ref Sequence

ENSEMBL: ENSMUSP00000097114 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099514] [ENSMUST00000134415] [ENSMUST00000142618] [ENSMUST00000151289] [ENSMUST00000152340]

AlphaFold

Q8VCQ6

PDB Structure

Solution structure of the sam-domain of mouse phosphatidyl ceramidecholinephosphotransferase 1 [SOLUTION NMR]

Predicted Effect

probably null
Transcript: ENSMUST00000099514
AA Change: K253M

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

SMART Domains

Protein: ENSMUSP00000097114
Gene: ENSMUSG00000040451
AA Change: K253M

Domain	Start	End	E-Value	Type
Pfam:SAM_1	11	74	1.3e-6	PFAM
transmembrane domain	141	163	N/A	INTRINSIC
transmembrane domain	186	208	N/A	INTRINSIC
Pfam:PAP2	216	362	4.5e-10	PFAM
Pfam:PAP2_C	282	355	4.9e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134415

SMART Domains

Protein: ENSMUSP00000115785
Gene: ENSMUSG00000040451

Domain	Start	End	E-Value	Type
Pfam:SAM_1	11	74	4.3e-7	PFAM
transmembrane domain	141	163	N/A	INTRINSIC
transmembrane domain	188	210	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000142618
AA Change: K253M

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

SMART Domains

Protein: ENSMUSP00000117336
Gene: ENSMUSG00000040451
AA Change: K253M

Domain	Start	End	E-Value	Type
Pfam:SAM_1	11	74	1.3e-6	PFAM
transmembrane domain	141	163	N/A	INTRINSIC
transmembrane domain	186	208	N/A	INTRINSIC
Pfam:PAP2	216	362	4.5e-10	PFAM
Pfam:PAP2_C	282	355	4.9e-34	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000151289
AA Change: K253M

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

SMART Domains

Protein: ENSMUSP00000123395
Gene: ENSMUSG00000040451
AA Change: K253M

Domain	Start	End	E-Value	Type
Pfam:SAM_1	11	74	1.5e-6	PFAM
transmembrane domain	141	163	N/A	INTRINSIC
transmembrane domain	186	208	N/A	INTRINSIC
transmembrane domain	221	243	N/A	INTRINSIC
Pfam:PAP2_C	282	355	1.7e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152340

SMART Domains

Protein: ENSMUSP00000119869
Gene: ENSMUSG00000040451

Domain	Start	End	E-Value	Type
Pfam:SAM_1	11	74	4.7e-7	PFAM
transmembrane domain	141	163	N/A	INTRINSIC
transmembrane domain	188	210	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature death, impaired insulin tolerance, increased insulin sensitivity, decreased insulin secretion, and abnormal pancreatic islet cell mitochondria morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,527,734 (GRCm39)	Y1019H	probably benign	Het
Adam11	C	A	11: 102,662,883 (GRCm39)	A212D	probably benign	Het
Adamts13	C	A	2: 26,868,707 (GRCm39)	H230Q	probably damaging	Het
Adgrl3	G	A	5: 81,457,874 (GRCm39)	M1I	probably null	Het
Agap1	A	T	1: 89,770,821 (GRCm39)	H657L	possibly damaging	Het
Ano3	T	C	2: 110,611,768 (GRCm39)	D238G	probably damaging	Het
Atp8b5	A	T	4: 43,357,018 (GRCm39)	I589F	probably damaging	Het
Bmp1	C	T	14: 70,717,000 (GRCm39)	A859T	possibly damaging	Het
Cdh20	C	A	1: 104,921,702 (GRCm39)	D666E	probably damaging	Het
Cep135	T	G	5: 76,780,090 (GRCm39)	D807E	probably benign	Het
Cldn13	G	A	5: 134,943,766 (GRCm39)	H140Y	probably benign	Het
Cnksr1	G	T	4: 133,962,434 (GRCm39)	Q155K	possibly damaging	Het
Col1a1	G	A	11: 94,829,352 (GRCm39)	R121Q	unknown	Het
Coro6	G	A	11: 77,358,089 (GRCm39)	A225T	possibly damaging	Het
Ctse	C	A	1: 131,592,112 (GRCm39)	T146K	possibly damaging	Het
Dhrs7b	C	A	11: 60,746,623 (GRCm39)	Y237*	probably null	Het
Dnah3	A	G	7: 119,570,312 (GRCm39)	F2303L	probably damaging	Het
Dsg2	T	A	18: 20,734,516 (GRCm39)	D831E	probably damaging	Het
Dst	T	C	1: 34,202,418 (GRCm39)	S575P	probably damaging	Het
Epg5	T	C	18: 77,992,170 (GRCm39)	L289P	probably damaging	Het
Etl4	A	G	2: 20,714,387 (GRCm39)	N162S	probably damaging	Het
Fbf1	A	T	11: 116,040,300 (GRCm39)	Y602N	probably benign	Het
Fgd4	A	T	16: 16,302,420 (GRCm39)	M45K	probably benign	Het
Fryl	C	T	5: 73,222,438 (GRCm39)	V2048I	probably benign	Het
Gulp1	T	C	1: 44,805,292 (GRCm39)	V127A	possibly damaging	Het
H2-DMb1	T	A	17: 34,376,490 (GRCm39)	I203N	probably damaging	Het
Harbi1	T	C	2: 91,542,790 (GRCm39)	S84P	probably damaging	Het
Hrh2	T	C	13: 54,368,266 (GRCm39)	S81P	possibly damaging	Het
Iars1	T	C	13: 49,841,791 (GRCm39)		probably null	Het
Kcnma1	T	C	14: 23,359,083 (GRCm39)	*1087W	probably null	Het
Lama5	T	A	2: 179,848,877 (GRCm39)	N241I	probably damaging	Het
Lig4	T	A	8: 10,022,101 (GRCm39)	K560*	probably null	Het
Lpin3	G	T	2: 160,735,923 (GRCm39)	E68*	probably null	Het
Mrtfb	A	T	16: 13,144,300 (GRCm39)	I7L	probably benign	Het
Msrb3	A	T	10: 120,627,305 (GRCm39)		probably null	Het
Muc5b	A	G	7: 141,416,602 (GRCm39)	T3183A	probably benign	Het
Mx1	T	A	16: 97,253,398 (GRCm39)	D342V	probably benign	Het
Nrap	G	T	19: 56,333,953 (GRCm39)	T1003K	probably damaging	Het
Or8u10	A	G	2: 85,915,159 (GRCm39)	S321P	possibly damaging	Het
Plxna2	C	T	1: 194,326,327 (GRCm39)	P87L	probably damaging	Het
Pms2	C	T	5: 143,850,452 (GRCm39)	T89I	probably damaging	Het
Ppp1r12c	C	A	7: 4,492,867 (GRCm39)	R203L	probably damaging	Het
Pramel31	A	G	4: 144,088,473 (GRCm39)	T90A	probably benign	Het
Rab44	C	T	17: 29,357,013 (GRCm39)	Q48*	probably null	Het
Rgs14	T	C	13: 55,531,047 (GRCm39)	V417A	probably benign	Het
Sidt2	T	C	9: 45,856,449 (GRCm39)	Y492C	probably damaging	Het
Slco1a5	G	T	6: 142,194,475 (GRCm39)	Y389*	probably null	Het
Slfn14	G	A	11: 83,170,214 (GRCm39)	Q477*	probably null	Het
Sorbs3	T	C	14: 70,438,934 (GRCm39)	K142R	probably damaging	Het
Sphk1	A	T	11: 116,426,590 (GRCm39)	D182V	probably damaging	Het
Srsf9	C	G	5: 115,465,481 (GRCm39)	Y38*	probably null	Het
Stk40	A	C	4: 126,019,547 (GRCm39)	E107A	probably damaging	Het
Syngr4	T	C	7: 45,538,101 (GRCm39)	Y89C	possibly damaging	Het
Tead1	G	A	7: 112,441,287 (GRCm39)	R109H	possibly damaging	Het
Thra	A	G	11: 98,651,802 (GRCm39)	Q108R	probably damaging	Het
Tnni3k	G	A	3: 154,580,782 (GRCm39)	T621I	probably damaging	Het
Trim3	A	C	7: 105,262,583 (GRCm39)	V525G	possibly damaging	Het
Usp49	T	C	17: 47,989,802 (GRCm39)	V529A	probably benign	Het
Vill	A	T	9: 118,900,281 (GRCm39)	Q849L	possibly damaging	Het
Vps36	T	A	8: 22,701,623 (GRCm39)	S237T	probably benign	Het
Zar1l	A	T	5: 150,430,558 (GRCm39)	C284*	probably null	Het
Zfp948	T	C	17: 21,808,602 (GRCm39)	V598A	possibly damaging	Het
Zfp952	T	C	17: 33,222,489 (GRCm39)	Y323H	possibly damaging	Het

Other mutations in Sgms1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Sgms1	APN	19	32,137,025 (GRCm39)	missense	probably damaging	1.00
IGL01585:Sgms1	APN	19	32,120,245 (GRCm39)	missense	probably damaging	1.00
IGL02490:Sgms1	APN	19	32,137,543 (GRCm39)	missense	probably damaging	0.98
IGL02970:Sgms1	APN	19	32,137,165 (GRCm39)	missense	probably damaging	0.99
R1051:Sgms1	UTSW	19	32,137,439 (GRCm39)	missense	probably damaging	1.00
R1871:Sgms1	UTSW	19	32,137,282 (GRCm39)	missense	probably benign	0.01
R1971:Sgms1	UTSW	19	32,137,357 (GRCm39)	missense	probably benign	0.05
R2001:Sgms1	UTSW	19	32,137,083 (GRCm39)	missense	possibly damaging	0.94
R2404:Sgms1	UTSW	19	32,137,072 (GRCm39)	nonsense	probably null
R2405:Sgms1	UTSW	19	32,137,072 (GRCm39)	nonsense	probably null
R2408:Sgms1	UTSW	19	32,137,072 (GRCm39)	nonsense	probably null
R2410:Sgms1	UTSW	19	32,137,072 (GRCm39)	nonsense	probably null
R3747:Sgms1	UTSW	19	32,136,994 (GRCm39)	missense	possibly damaging	0.65
R4016:Sgms1	UTSW	19	32,120,192 (GRCm39)	missense	possibly damaging	0.88
R4710:Sgms1	UTSW	19	32,137,537 (GRCm39)	missense	probably damaging	1.00
R5056:Sgms1	UTSW	19	32,137,087 (GRCm39)	missense	probably damaging	1.00
R5422:Sgms1	UTSW	19	32,137,232 (GRCm39)	missense	probably damaging	0.98
R6023:Sgms1	UTSW	19	32,101,773 (GRCm39)	missense	probably benign	0.12
R6106:Sgms1	UTSW	19	32,101,825 (GRCm39)	missense	possibly damaging	0.87
R6932:Sgms1	UTSW	19	32,120,193 (GRCm39)	missense	probably benign	0.02
R7382:Sgms1	UTSW	19	32,137,182 (GRCm39)	missense	possibly damaging	0.68
R7494:Sgms1	UTSW	19	32,107,091 (GRCm39)	missense	probably benign	0.00
R7712:Sgms1	UTSW	19	32,120,169 (GRCm39)	missense	probably benign	0.05
R7759:Sgms1	UTSW	19	32,137,276 (GRCm39)	missense	probably benign
R7872:Sgms1	UTSW	19	32,102,765 (GRCm39)	missense	probably damaging	0.99
R8283:Sgms1	UTSW	19	32,137,035 (GRCm39)	missense	probably damaging	1.00
R8377:Sgms1	UTSW	19	32,101,821 (GRCm39)	missense	probably damaging	1.00
R8487:Sgms1	UTSW	19	32,102,697 (GRCm39)	missense	probably benign	0.30
R8507:Sgms1	UTSW	19	32,137,109 (GRCm39)	missense	probably benign	0.06
R9007:Sgms1	UTSW	19	32,137,227 (GRCm39)	missense	probably benign	0.03
R9182:Sgms1	UTSW	19	32,101,758 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGCAGGATACAAAGAGCTCC -3'
(R):5'- GAAACTGCGGAATTTCTTGACTG -3'

Sequencing Primer
(F):5'- AAAGCTCCCATTGGTTCTAAGCTG -3'
(R):5'- GGAATTTCTTGACTGAGAATCTGCCC -3'

Posted On

2019-06-26