Mutagenetix > Incidental Mutation

Incidental Mutation 'R5102:Hmgcs2'

392407

Institutional Source

Beutler Lab

Gene Symbol

Hmgcs2

Ensembl Gene

ENSMUSG00000027875

Gene Name

3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2

Synonyms

mHS

MMRRC Submission

042690-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R5102 (G1)

Quality Score

113

Status

Not validated

Chromosome

Chromosomal Location

98280435-98310738 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

T to C at 98280470 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090746] [ENSMUST00000120541]

AlphaFold

P54869

Predicted Effect

probably benign
Transcript: ENSMUST00000090746

SMART Domains

Protein: ENSMUSP00000088249
Gene: ENSMUSG00000027875

Domain	Start	End	E-Value	Type
Pfam:HMG_CoA_synt_N	50	223	2.9e-111	PFAM
Pfam:HMG_CoA_synt_C	224	506	6.6e-131	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120541

SMART Domains

Protein: ENSMUSP00000113296
Gene: ENSMUSG00000027875

Domain	Start	End	E-Value	Type
Pfam:HMG_CoA_synt_N	50	223	7.2e-108	PFAM
Pfam:HMG_CoA_synt_C	224	506	1.8e-131	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.3%

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 belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810006K23Rik	A	G	5: 124,338,891 (GRCm38)	N83D	probably damaging	Het
Aox4	C	T	1: 58,240,778 (GRCm38)	R518C	probably damaging	Het
Apbb2	A	T	5: 66,312,249 (GRCm38)		probably null	Het
Arhgap45	C	T	10: 80,021,428 (GRCm38)	P254S	probably benign	Het
Arl4c	T	C	1: 88,701,600 (GRCm38)	D22G	probably damaging	Het
Asxl1	A	G	2: 153,400,955 (GRCm38)	T1142A	probably benign	Het
BC035044	T	C	6: 128,884,986 (GRCm38)		probably benign	Het
Bmp4	T	C	14: 46,384,001 (GRCm38)	N362S	probably damaging	Het
Cbll1	G	T	12: 31,487,913 (GRCm38)	T280N	probably damaging	Het
Cdh10	A	T	15: 18,986,885 (GRCm38)	T401S	probably benign	Het
Cps1	A	T	1: 67,206,793 (GRCm38)	M1148L	probably benign	Het
Crybg1	T	C	10: 43,997,836 (GRCm38)	D1092G	probably damaging	Het
Cyth2	A	G	7: 45,810,702 (GRCm38)	S173P	probably damaging	Het
D3Ertd254e	G	A	3: 36,162,665 (GRCm38)	C55Y	possibly damaging	Het
D6Ertd527e	A	T	6: 87,111,811 (GRCm38)	I319F	unknown	Het
Dchs1	A	T	7: 105,772,177 (GRCm38)	H345Q	probably benign	Het
Ddx50	A	T	10: 62,640,861 (GRCm38)	V211E	probably damaging	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm38)		probably null	Het
Dnajb5	G	A	4: 42,956,639 (GRCm38)	D109N	possibly damaging	Het
Dner	A	T	1: 84,405,970 (GRCm38)	N564K	probably damaging	Het
Fam234b	T	C	6: 135,209,284 (GRCm38)	S97P	probably benign	Het
Fam53b	G	A	7: 132,715,955 (GRCm38)	R60*	probably null	Het
Fmo3	T	G	1: 162,963,977 (GRCm38)	K244Q	probably benign	Het
Gm12800	T	C	4: 101,909,239 (GRCm38)	F40S	probably damaging	Het
Golim4	A	G	3: 75,903,272 (GRCm38)	I192T	possibly damaging	Het
Gpr1	A	G	1: 63,183,167 (GRCm38)	V303A	probably damaging	Het
Gprin1	T	C	13: 54,739,763 (GRCm38)	M233V	probably benign	Het
Gtf2f1	A	T	17: 57,003,626 (GRCm38)	V443D	probably damaging	Het
H2afy	C	G	13: 56,096,123 (GRCm38)		probably null	Het
Ide	T	A	19: 37,314,984 (GRCm38)	I271L	unknown	Het
Kat8	G	A	7: 127,924,816 (GRCm38)	E343K	probably damaging	Het
Kif14	A	G	1: 136,516,403 (GRCm38)	I1378V	probably benign	Het
Lhx3	TCCTACGGGCCGGCCC	TCC	2: 26,201,423 (GRCm38)		probably null	Het
Lhx6	T	C	2: 36,094,210 (GRCm38)		probably null	Het
Lrp2	C	T	2: 69,489,158 (GRCm38)	G2007D	probably damaging	Het
Lrp5	T	C	19: 3,659,304 (GRCm38)	K142R	probably damaging	Het
Mrpl2	G	A	17: 46,650,038 (GRCm38)	R286Q	probably benign	Het
Nacad	T	A	11: 6,598,528 (GRCm38)	D1402V	probably damaging	Het
Ndfip2	T	C	14: 105,298,105 (GRCm38)	I275T	possibly damaging	Het
Neb	A	C	2: 52,226,570 (GRCm38)	V4131G	possibly damaging	Het
Nfe2l1	G	A	11: 96,822,108 (GRCm38)	A83V	probably damaging	Het
Nos3	A	G	5: 24,371,627 (GRCm38)	D418G	probably damaging	Het
Olfr1126	A	T	2: 87,457,794 (GRCm38)	M210L	probably benign	Het
Olfr353	T	A	2: 36,890,044 (GRCm38)	K268M	possibly damaging	Het
Plcd4	A	G	1: 74,565,154 (GRCm38)	T764A	probably damaging	Het
Plppr3	G	T	10: 79,865,386 (GRCm38)	P541T	possibly damaging	Het
Polr2a	A	G	11: 69,746,945 (GRCm38)	I191T	possibly damaging	Het
Rab11fip1	T	C	8: 27,156,374 (GRCm38)	K225E	probably damaging	Het
Rara	A	T	11: 98,966,359 (GRCm38)	Q64L	possibly damaging	Het
Rtkn	G	A	6: 83,149,773 (GRCm38)	V305M	probably damaging	Het
Sh2b1	A	C	7: 126,471,236 (GRCm38)	F399V	probably benign	Het
Slc7a4	T	C	16: 17,575,618 (GRCm38)	T106A	probably damaging	Het
Srcap	G	A	7: 127,530,623 (GRCm38)	G539D	probably damaging	Het
Stab1	C	T	14: 31,148,017 (GRCm38)		probably null	Het

Other mutations in Hmgcs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0579:Hmgcs2	UTSW	3	98,290,948 (GRCm38)	missense	probably damaging	1.00
R0657:Hmgcs2	UTSW	3	98,291,053 (GRCm38)	missense	probably benign
R0724:Hmgcs2	UTSW	3	98,297,001 (GRCm38)	nonsense	probably null
R2024:Hmgcs2	UTSW	3	98,299,214 (GRCm38)	missense	probably damaging	1.00
R2109:Hmgcs2	UTSW	3	98,297,021 (GRCm38)	nonsense	probably null
R2202:Hmgcs2	UTSW	3	98,291,183 (GRCm38)	missense	probably damaging	1.00
R2203:Hmgcs2	UTSW	3	98,291,183 (GRCm38)	missense	probably damaging	1.00
R2204:Hmgcs2	UTSW	3	98,291,183 (GRCm38)	missense	probably damaging	1.00
R2205:Hmgcs2	UTSW	3	98,291,183 (GRCm38)	missense	probably damaging	1.00
R3758:Hmgcs2	UTSW	3	98,291,090 (GRCm38)	missense	probably damaging	1.00
R3779:Hmgcs2	UTSW	3	98,299,112 (GRCm38)	splice site	probably benign
R3958:Hmgcs2	UTSW	3	98,297,477 (GRCm38)	missense	possibly damaging	0.48
R3959:Hmgcs2	UTSW	3	98,297,477 (GRCm38)	missense	possibly damaging	0.48
R3960:Hmgcs2	UTSW	3	98,297,477 (GRCm38)	missense	possibly damaging	0.48
R3962:Hmgcs2	UTSW	3	98,291,038 (GRCm38)	missense	possibly damaging	0.91
R4788:Hmgcs2	UTSW	3	98,291,084 (GRCm38)	missense	probably damaging	1.00
R5708:Hmgcs2	UTSW	3	98,291,162 (GRCm38)	missense	probably damaging	1.00
R5742:Hmgcs2	UTSW	3	98,297,516 (GRCm38)	missense	probably benign
R7268:Hmgcs2	UTSW	3	98,297,480 (GRCm38)	missense	probably benign	0.02
R7294:Hmgcs2	UTSW	3	98,290,895 (GRCm38)	missense	probably benign	0.09
R7503:Hmgcs2	UTSW	3	98,302,624 (GRCm38)	missense	probably damaging	1.00
R7767:Hmgcs2	UTSW	3	98,291,266 (GRCm38)	missense	probably damaging	1.00
R8043:Hmgcs2	UTSW	3	98,291,128 (GRCm38)	missense	probably damaging	1.00
R8360:Hmgcs2	UTSW	3	98,297,408 (GRCm38)	missense	possibly damaging	0.68
R8931:Hmgcs2	UTSW	3	98,296,241 (GRCm38)	missense	probably damaging	1.00
R9167:Hmgcs2	UTSW	3	98,297,114 (GRCm38)	missense	possibly damaging	0.46
R9183:Hmgcs2	UTSW	3	98,290,916 (GRCm38)	missense	possibly damaging	0.67
R9211:Hmgcs2	UTSW	3	98,297,432 (GRCm38)	missense	possibly damaging	0.95
Z1176:Hmgcs2	UTSW	3	98,290,945 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

Posted On

2016-06-15