Mutagenetix > Incidental Mutation

Incidental Mutation 'R2205:Hmgcs2'

238950

Institutional Source

Beutler Lab

Gene Symbol

Hmgcs2

Ensembl Gene

ENSMUSG00000027875

Gene Name

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

Synonyms

mHS

MMRRC Submission

040207-MU

Accession Numbers

Essential gene?

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

Stock #

R2205 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98187751-98218054 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98198499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 134 (I134N)

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: I134N

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

SMART Domains

Protein: ENSMUSP00000088249
Gene: ENSMUSG00000027875
AA Change: I134N

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: I134N

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

SMART Domains

Protein: ENSMUSP00000113296
Gene: ENSMUSG00000027875
AA Change: I134N

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 96.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	C	G	11: 48,910,149 (GRCm39)	L761F	probably damaging	Het
Abca14	T	C	7: 119,846,503 (GRCm39)	S652P	probably damaging	Het
Acsl6	G	A	11: 54,214,833 (GRCm39)	G75S	probably damaging	Het
Adamts7	A	T	9: 90,062,729 (GRCm39)	K394N	probably damaging	Het
Ahdc1	A	G	4: 132,793,220 (GRCm39)	E1487G	possibly damaging	Het
Aknad1	A	G	3: 108,664,609 (GRCm39)	D406G	probably damaging	Het
Albfm1	A	G	5: 90,717,421 (GRCm39)	T201A	possibly damaging	Het
Ankrd2	C	A	19: 42,032,558 (GRCm39)	A273E	probably damaging	Het
Ankrd26	T	A	6: 118,500,843 (GRCm39)	H876L	possibly damaging	Het
Arhgap35	A	T	7: 16,231,950 (GRCm39)		probably null	Het
Bag6	G	A	17: 35,363,583 (GRCm39)	G751R	probably damaging	Het
Brat1	G	A	5: 140,690,888 (GRCm39)		probably benign	Het
Cacna1h	C	T	17: 25,599,234 (GRCm39)	A1742T	probably damaging	Het
Catsperg1	G	A	7: 28,884,671 (GRCm39)	Q922*	probably null	Het
Cfap221	T	G	1: 119,863,834 (GRCm39)	Y570S	possibly damaging	Het
Cfap45	T	C	1: 172,359,728 (GRCm39)	V76A	probably benign	Het
Chil3	T	C	3: 106,071,562 (GRCm39)	D34G	probably benign	Het
Cpa1	A	G	6: 30,641,818 (GRCm39)	D214G	probably damaging	Het
Cpd	A	G	11: 76,693,070 (GRCm39)	Y739H	probably damaging	Het
Cttnbp2	T	G	6: 18,408,693 (GRCm39)	D976A	probably benign	Het
Dhrs7	A	T	12: 72,703,144 (GRCm39)	V188E	probably damaging	Het
Dpp9	A	C	17: 56,506,287 (GRCm39)	I411S	possibly damaging	Het
Elapor1	C	T	3: 108,382,359 (GRCm39)	G270E	probably damaging	Het
Fitm2	G	A	2: 163,314,516 (GRCm39)		probably benign	Het
Flnc	C	T	6: 29,459,507 (GRCm39)	P2536S	probably damaging	Het
Gm6370	T	A	5: 146,430,539 (GRCm39)	D241E	probably benign	Het
Gpatch1	C	A	7: 34,991,197 (GRCm39)	D616Y	probably damaging	Het
Gpc3	T	A	X: 51,486,083 (GRCm39)	I344F	probably damaging	Het
Hoxb3	T	A	11: 96,236,494 (GRCm39)	S191T	probably benign	Het
Ifit1bl1	C	T	19: 34,571,741 (GRCm39)	E239K	probably benign	Het
Ints8	A	T	4: 11,225,712 (GRCm39)	M615K	possibly damaging	Het
Irak1	G	A	X: 73,060,744 (GRCm39)	T193I	probably damaging	Het
Megf8	C	T	7: 25,041,173 (GRCm39)	T1134I	probably benign	Het
Mtrex	T	C	13: 113,035,424 (GRCm39)	I510V	probably benign	Het
Nipsnap1	C	A	11: 4,839,974 (GRCm39)	H232N	possibly damaging	Het
Nme4	A	T	17: 26,311,114 (GRCm39)	H150Q	possibly damaging	Het
Nudt5	A	T	2: 5,860,794 (GRCm39)	I22F	possibly damaging	Het
P2rx7	T	A	5: 122,819,164 (GRCm39)	Y529N	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pofut1	T	A	2: 153,103,167 (GRCm39)	M267K	probably damaging	Het
Rad54l2	T	C	9: 106,594,997 (GRCm39)	D320G	probably damaging	Het
Rdm1	C	A	11: 101,525,629 (GRCm39)	A225E	probably damaging	Het
Samm50	G	A	15: 84,086,515 (GRCm39)	A245T	probably benign	Het
Scfd2	A	T	5: 74,386,028 (GRCm39)	M597K	possibly damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Ssh3	A	G	19: 4,319,101 (GRCm39)	L3P	probably damaging	Het
Stoml2	G	T	4: 43,030,243 (GRCm39)	Y119*	probably null	Het
Tbc1d31	A	G	15: 57,816,916 (GRCm39)	D717G	probably benign	Het
Timd5	A	G	11: 46,419,394 (GRCm39)	N70S	probably benign	Het
Tma7	C	A	9: 108,911,294 (GRCm39)		probably benign	Het
Tmc1	A	T	19: 20,918,269 (GRCm39)	L2M	probably benign	Het
Tmem39b	A	C	4: 129,587,716 (GRCm39)	S32A	probably benign	Het
Tnfsf14	T	C	17: 57,497,638 (GRCm39)	D198G	possibly damaging	Het
Tns3	T	C	11: 8,481,719 (GRCm39)	Y211C	probably damaging	Het
Ttc21b	C	T	2: 66,065,467 (GRCm39)	G436S	possibly damaging	Het
Ttn	T	C	2: 76,681,907 (GRCm39)		probably benign	Het
Ube3b	G	A	5: 114,527,135 (GRCm39)	V118M	probably damaging	Het
Usp34	A	G	11: 23,335,147 (GRCm39)	T1210A	probably damaging	Het
Vmn1r23	T	C	6: 57,903,604 (GRCm39)	D58G	probably benign	Het
Vmn2r104	A	T	17: 20,250,083 (GRCm39)	N729K	probably benign	Het
Wdr62	T	A	7: 29,957,574 (GRCm39)		probably null	Het
Ywhah	A	G	5: 33,184,484 (GRCm39)	N229S	probably damaging	Het
Zbtb47	A	G	9: 121,591,703 (GRCm39)	T8A	possibly damaging	Het
Zfyve27	C	A	19: 42,171,885 (GRCm39)	A139D	probably damaging	Het
Zmat1	A	G	X: 133,873,861 (GRCm39)	L476P	possibly damaging	Het
Zswim4	G	T	8: 84,952,498 (GRCm39)	T488N	possibly damaging	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
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
R5708:Hmgcs2	UTSW	3	98,198,478 (GRCm39)	missense	probably damaging	1.00
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'- GGAGGTCTATTTTCCAGCCC -3'
(R):5'- CTGTGACATCCTGGAAACACG -3'

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

Posted On

2014-10-02