Mutagenetix > Incidental Mutation

Incidental Mutation 'R5708:Hmgcs2'

452067

Institutional Source

Beutler Lab

Gene Symbol

Hmgcs2

Ensembl Gene

ENSMUSG00000027875

Gene Name

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

Synonyms

mHS

MMRRC Submission

043333-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R5708 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98187751-98218054 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98198478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 127 (L127Q)

Ref Sequence

ENSEMBL: ENSMUSP00000113296 (fasta)

Gene Model

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

AlphaFold

P54869

Predicted Effect

probably damaging
Transcript: ENSMUST00000090746
AA Change: L127Q

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

SMART Domains

Protein: ENSMUSP00000088249
Gene: ENSMUSG00000027875
AA Change: L127Q

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 damaging
Transcript: ENSMUST00000120541
AA Change: L127Q

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

SMART Domains

Protein: ENSMUSP00000113296
Gene: ENSMUSG00000027875
AA Change: L127Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196040

Meta Mutation Damage Score

0.9527

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (65/66)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	A	G	8: 84,729,627 (GRCm39)	K101R	probably benign	Het
4933430I17Rik	T	C	4: 62,444,106 (GRCm39)	S18P	probably benign	Het
Adgb	C	T	10: 10,267,501 (GRCm39)	V940I	probably damaging	Het
Aox4	G	T	1: 58,285,032 (GRCm39)	A595S	possibly damaging	Het
Asxl2	T	A	12: 3,550,603 (GRCm39)	S782T	possibly damaging	Het
C1s2	A	T	6: 124,602,702 (GRCm39)	L503*	probably null	Het
C7	A	G	15: 5,044,883 (GRCm39)	V385A	possibly damaging	Het
Cdh20	T	C	1: 104,912,635 (GRCm39)	F630L	probably damaging	Het
Cdk14	A	C	5: 5,316,036 (GRCm39)		probably benign	Het
Cdkl4	T	C	17: 80,846,951 (GRCm39)	I239M	possibly damaging	Het
Cfap299	A	T	5: 98,885,566 (GRCm39)	M158L	probably benign	Het
Col11a1	A	G	3: 113,890,743 (GRCm39)	N360S	unknown	Het
D630003M21Rik	A	G	2: 158,062,312 (GRCm39)		probably null	Het
Dchs1	G	A	7: 105,422,016 (GRCm39)	P135S	probably damaging	Het
Dpysl2	A	G	14: 67,050,595 (GRCm39)	S421P	probably benign	Het
Edn1	A	T	13: 42,457,143 (GRCm39)	M59L	probably benign	Het
EU599041	A	G	7: 42,875,311 (GRCm39)		noncoding transcript	Het
Furin	A	G	7: 80,047,603 (GRCm39)		probably benign	Het
Gkn2	T	C	6: 87,354,418 (GRCm39)	L94P	probably damaging	Het
Gmeb2	A	T	2: 180,906,782 (GRCm39)	C117S	probably damaging	Het
Greb1	T	A	12: 16,723,843 (GRCm39)	I1869F	probably benign	Het
Heg1	A	G	16: 33,562,774 (GRCm39)	E1119G	probably damaging	Het
Insyn2a	C	A	7: 134,520,525 (GRCm39)	V2F	probably damaging	Het
Kcnh6	A	G	11: 105,911,082 (GRCm39)	R493G	probably benign	Het
Kcnj11	C	T	7: 45,749,242 (GRCm39)	R27H	probably benign	Het
Klra14-ps	A	G	6: 130,134,751 (GRCm39)		noncoding transcript	Het
Lgmn	A	T	12: 102,370,587 (GRCm39)	N114K	possibly damaging	Het
Lipg	C	T	18: 75,088,505 (GRCm39)	M148I	possibly damaging	Het
Megf8	G	T	7: 25,034,022 (GRCm39)	R607L	probably benign	Het
Mks1	A	G	11: 87,747,665 (GRCm39)	T183A	probably benign	Het
Mllt11	A	G	3: 95,127,515 (GRCm39)	V85A	probably benign	Het
Mpo	A	T	11: 87,692,581 (GRCm39)		probably null	Het
Muc4	A	T	16: 32,575,515 (GRCm39)		probably benign	Het
Myoz3	T	C	18: 60,712,104 (GRCm39)	Y158C	probably damaging	Het
Or11g25	A	T	14: 50,723,452 (GRCm39)	D179V	probably damaging	Het
Or4k41	A	G	2: 111,280,354 (GRCm39)	R290G	probably damaging	Het
Or5ae1	A	G	7: 84,565,391 (GRCm39)	I135V	possibly damaging	Het
Polq	T	A	16: 36,881,380 (GRCm39)	S902R	probably damaging	Het
Rarb	T	C	14: 16,548,545 (GRCm38)	T93A	probably damaging	Het
Rgs12	A	G	5: 35,123,696 (GRCm39)	D493G	probably benign	Het
Sec31b	T	A	19: 44,511,583 (GRCm39)	D606V	probably damaging	Het
Setd2	T	C	9: 110,377,891 (GRCm39)	F569L	possibly damaging	Het
Sil1	T	C	18: 35,474,170 (GRCm39)	E149G	probably benign	Het
Spata13	T	G	14: 60,929,452 (GRCm39)	S337A	probably damaging	Het
Srfbp1	T	A	18: 52,622,018 (GRCm39)	L360M	probably damaging	Het
Tecta	A	T	9: 42,250,222 (GRCm39)	C1852S	probably damaging	Het
Tgfbr3l	A	G	8: 4,300,360 (GRCm39)	T208A	probably damaging	Het
Tmem38b	G	C	4: 53,849,051 (GRCm39)		probably null	Het
Tnfrsf11a	T	A	1: 105,741,545 (GRCm39)		probably null	Het
Tnik	T	A	3: 28,666,120 (GRCm39)		probably null	Het
Tsc1	A	T	2: 28,555,197 (GRCm39)		probably benign	Het
Zfp930	T	C	8: 69,679,113 (GRCm39)	V41A	probably benign	Het
Zscan18	A	T	7: 12,508,383 (GRCm39)	D372E	probably benign	Het

Other mutations in Hmgcs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0579:Hmgcs2	UTSW	3	98,198,264 (GRCm39)	missense	probably damaging	1.00
R0657:Hmgcs2	UTSW	3	98,198,369 (GRCm39)	missense	probably benign
R0724:Hmgcs2	UTSW	3	98,204,317 (GRCm39)	nonsense	probably null
R2024:Hmgcs2	UTSW	3	98,206,530 (GRCm39)	missense	probably damaging	1.00
R2109:Hmgcs2	UTSW	3	98,204,337 (GRCm39)	nonsense	probably null
R2202:Hmgcs2	UTSW	3	98,198,499 (GRCm39)	missense	probably damaging	1.00
R2203:Hmgcs2	UTSW	3	98,198,499 (GRCm39)	missense	probably damaging	1.00
R2204:Hmgcs2	UTSW	3	98,198,499 (GRCm39)	missense	probably damaging	1.00
R2205:Hmgcs2	UTSW	3	98,198,499 (GRCm39)	missense	probably damaging	1.00
R3758:Hmgcs2	UTSW	3	98,198,406 (GRCm39)	missense	probably damaging	1.00
R3779:Hmgcs2	UTSW	3	98,206,428 (GRCm39)	splice site	probably benign
R3958:Hmgcs2	UTSW	3	98,204,793 (GRCm39)	missense	possibly damaging	0.48
R3959:Hmgcs2	UTSW	3	98,204,793 (GRCm39)	missense	possibly damaging	0.48
R3960:Hmgcs2	UTSW	3	98,204,793 (GRCm39)	missense	possibly damaging	0.48
R3962:Hmgcs2	UTSW	3	98,198,354 (GRCm39)	missense	possibly damaging	0.91
R4788:Hmgcs2	UTSW	3	98,198,400 (GRCm39)	missense	probably damaging	1.00
R5102:Hmgcs2	UTSW	3	98,187,786 (GRCm39)	start gained	probably benign
R5742:Hmgcs2	UTSW	3	98,204,832 (GRCm39)	missense	probably benign
R7268:Hmgcs2	UTSW	3	98,204,796 (GRCm39)	missense	probably benign	0.02
R7294:Hmgcs2	UTSW	3	98,198,211 (GRCm39)	missense	probably benign	0.09
R7503:Hmgcs2	UTSW	3	98,209,940 (GRCm39)	missense	probably damaging	1.00
R7767:Hmgcs2	UTSW	3	98,198,582 (GRCm39)	missense	probably damaging	1.00
R8043:Hmgcs2	UTSW	3	98,198,444 (GRCm39)	missense	probably damaging	1.00
R8360:Hmgcs2	UTSW	3	98,204,724 (GRCm39)	missense	possibly damaging	0.68
R8931:Hmgcs2	UTSW	3	98,203,557 (GRCm39)	missense	probably damaging	1.00
R9167:Hmgcs2	UTSW	3	98,204,430 (GRCm39)	missense	possibly damaging	0.46
R9183:Hmgcs2	UTSW	3	98,198,232 (GRCm39)	missense	possibly damaging	0.67
R9211:Hmgcs2	UTSW	3	98,204,748 (GRCm39)	missense	possibly damaging	0.95
Z1176:Hmgcs2	UTSW	3	98,198,261 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCCTGGAGGTCTATTTTCC -3'
(R):5'- TCCTGGAAACACGTACCATC -3'

Sequencing Primer
(F):5'- TATGTGGACCAAACTGACCTG -3'
(R):5'- CGTACCATCCCAGTAGCTG -3'

Posted On

2017-01-03