Mutagenetix > Incidental Mutation

Incidental Mutation 'R7767:Hmgcs2'

598280

Institutional Source

Beutler Lab

Gene Symbol

Hmgcs2

Ensembl Gene

ENSMUSG00000027875

Gene Name

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

Synonyms

mHS

MMRRC Submission

045823-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R7767 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98187751-98218054 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 98198582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 162 (T162P)

Ref Sequence

ENSEMBL: ENSMUSP00000088249 (fasta)

Gene Model

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

AlphaFold

P54869

Predicted Effect

probably damaging
Transcript: ENSMUST00000090746
AA Change: T162P

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

SMART Domains

Protein: ENSMUSP00000088249
Gene: ENSMUSG00000027875
AA Change: T162P

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: T162P

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

SMART Domains

Protein: ENSMUSP00000113296
Gene: ENSMUSG00000027875
AA Change: T162P

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox4	C	A	1: 58,274,366 (GRCm39)	S384Y	probably damaging	Het
Arhgef15	T	C	11: 68,844,673 (GRCm39)	E308G	probably damaging	Het
Asb15	A	G	6: 24,559,281 (GRCm39)	D142G	probably benign	Het
Atg13	A	G	2: 91,509,711 (GRCm39)	S394P	probably damaging	Het
Atp10a	G	C	7: 58,308,597 (GRCm39)	W132S	probably damaging	Het
Bltp1	G	T	3: 36,974,436 (GRCm39)		probably null	Het
Bod1l	T	A	5: 41,974,099 (GRCm39)	N2405I	probably benign	Het
Capsl	C	T	15: 9,462,770 (GRCm39)	R137C	probably damaging	Het
Cd109	T	A	9: 78,617,441 (GRCm39)	M1313K	probably damaging	Het
Chst13	G	A	6: 90,286,566 (GRCm39)	A132V	possibly damaging	Het
Cobl	T	C	11: 12,362,117 (GRCm39)		probably benign	Het
Coq9	A	T	8: 95,577,214 (GRCm39)	E193V	probably benign	Het
Cpd	T	A	11: 76,704,385 (GRCm39)	I410F	probably benign	Het
Cyth3	T	G	5: 143,693,229 (GRCm39)	V351G	probably damaging	Het
Dcdc2c	T	C	12: 28,520,256 (GRCm39)	K607E		Het
Dcp1a	T	C	14: 30,201,775 (GRCm39)		probably null	Het
Dennd3	A	G	15: 73,394,079 (GRCm39)	I35V	probably benign	Het
Dlgap4	C	T	2: 156,587,973 (GRCm39)	R606W	probably damaging	Het
Dnhd1	A	G	7: 105,343,817 (GRCm39)	I1720M	probably benign	Het
Erbin	A	G	13: 103,995,907 (GRCm39)	L265P	probably damaging	Het
Ern1	T	C	11: 106,291,134 (GRCm39)	D847G	probably damaging	Het
Esyt3	T	G	9: 99,207,024 (GRCm39)	S342R	probably benign	Het
Exoc2	A	T	13: 31,060,752 (GRCm39)	I584K	probably benign	Het
Fam240a	T	C	9: 110,744,090 (GRCm39)	R50G	probably damaging	Het
Glis3	A	T	19: 28,241,360 (GRCm39)	M858K	probably benign	Het
Gls2	C	T	10: 128,030,998 (GRCm39)	R86C	unknown	Het
Gm10972	C	A	3: 94,550,901 (GRCm39)	Y25*	probably null	Het
H2-T10	A	T	17: 36,428,622 (GRCm39)	M350K	probably benign	Het
Has1	A	T	17: 18,070,792 (GRCm39)	V43D	probably damaging	Het
Herc2	T	A	7: 55,878,275 (GRCm39)	S4609R	probably benign	Het
Hspg2	G	T	4: 137,239,177 (GRCm39)	C368F	probably damaging	Het
Ighv11-1	A	G	12: 113,945,722 (GRCm39)	S44P	probably damaging	Het
Inppl1	A	G	7: 101,473,545 (GRCm39)	V1035A	probably benign	Het
Kmt2a	C	T	9: 44,730,295 (GRCm39)	V3341I	unknown	Het
Lrp1b	T	C	2: 40,691,517 (GRCm39)	N3434S		Het
Lrriq1	G	C	10: 103,051,815 (GRCm39)	S312R	probably damaging	Het
Map1a	G	A	2: 121,132,517 (GRCm39)	S1111N	probably damaging	Het
Myo15a	T	C	11: 60,392,922 (GRCm39)	V1029A		Het
Nol11	T	C	11: 107,069,908 (GRCm39)	H314R	possibly damaging	Het
Nphs1	A	T	7: 30,162,733 (GRCm39)	D404V	probably damaging	Het
Odr4	A	G	1: 150,247,788 (GRCm39)	V387A	probably benign	Het
Or51r1	A	T	7: 102,220,971 (GRCm39)		probably benign	Het
Pabpc2	T	C	18: 39,907,607 (GRCm39)	Y291H	possibly damaging	Het
Pcdh15	G	A	10: 74,322,088 (GRCm39)	A1020T	probably benign	Het
Pla2g4f	A	C	2: 120,135,490 (GRCm39)	S395A	possibly damaging	Het
Ppp1r18	A	G	17: 36,178,176 (GRCm39)	Q17R	probably damaging	Het
Prokr2	A	T	2: 132,215,996 (GRCm39)	V155D	probably damaging	Het
Pwwp2a	T	G	11: 43,596,696 (GRCm39)	C620W	probably damaging	Het
Rabepk	T	C	2: 34,675,605 (GRCm39)	D175G	probably damaging	Het
Rad54l	T	C	4: 115,956,866 (GRCm39)	Y485C	probably damaging	Het
Rasef	A	G	4: 73,652,771 (GRCm39)	S577P	probably damaging	Het
Rgma	C	A	7: 73,067,752 (GRCm39)	L446I	unknown	Het
Rnf212b	T	C	14: 55,079,825 (GRCm39)	S182P	probably damaging	Het
Rnf6	C	A	5: 146,147,986 (GRCm39)	R344I	probably damaging	Het
Rnf6	T	A	5: 146,147,987 (GRCm39)	R344*	probably null	Het
Sgo1	A	G	17: 53,986,639 (GRCm39)	I184T	possibly damaging	Het
Sgpl1	A	T	10: 60,953,502 (GRCm39)	I78N	possibly damaging	Het
Snx13	T	A	12: 35,157,483 (GRCm39)	Y510N	probably damaging	Het
Sptbn2	G	A	19: 4,784,171 (GRCm39)	E638K	possibly damaging	Het
Sspo	A	G	6: 48,428,316 (GRCm39)	T349A	probably damaging	Het
Sv2c	C	T	13: 96,126,223 (GRCm39)	S343N	probably damaging	Het
Syne1	C	A	10: 5,283,560 (GRCm39)	V1502F	possibly damaging	Het
Syne1	T	A	10: 5,283,632 (GRCm39)	I1478F	possibly damaging	Het
Tmem121	C	T	12: 113,151,992 (GRCm39)	A70V	probably damaging	Het
Tmem215	A	G	4: 40,474,042 (GRCm39)	I40V	possibly damaging	Het
Trim25	A	G	11: 88,899,943 (GRCm39)		probably null	Het
Trio	A	G	15: 27,889,504 (GRCm39)	V534A	unknown	Het
Tyr	T	A	7: 87,142,218 (GRCm39)	E114V	probably benign	Het
Ush2a	A	T	1: 188,285,457 (GRCm39)	T1998S	probably benign	Het
Usp40	G	T	1: 87,909,900 (GRCm39)	A518E	probably benign	Het
Usp48	T	A	4: 137,331,956 (GRCm39)		probably null	Het
Vash1	T	A	12: 86,733,767 (GRCm39)	F152L	probably damaging	Het
Vsig10l	C	A	7: 43,113,141 (GRCm39)	P31Q	probably damaging	Het
Xab2	C	T	8: 3,669,018 (GRCm39)	E43K	probably benign	Het
Zfp423	G	A	8: 88,507,512 (GRCm39)	S944F	probably damaging	Het
Zp2	A	T	7: 119,736,392 (GRCm39)	D350E	probably benign	Het
Zscan4e	T	G	7: 11,041,461 (GRCm39)	Q165P	probably 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
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
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
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'- TGGGCTTCTGTTCAGTCCAG -3'
(R):5'- GTAGCAGCTGTATGAGTAAATTGCC -3'

Sequencing Primer
(F):5'- GAGGACATCAACTCCCTGTG -3'
(R):5'- CAGCTGTATGAGTAAATTGCCTTTCC -3'

Posted On

2019-11-26