Mutagenetix > Incidental Mutation

Incidental Mutation 'R7268:Hmgcs2'

565057

Institutional Source

Beutler Lab

Gene Symbol

Hmgcs2

Ensembl Gene

ENSMUSG00000027875

Gene Name

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

Synonyms

mHS

MMRRC Submission

045319-MU

Accession Numbers

Essential gene?

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

Stock #

R7268 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98187751-98218054 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98204796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 318 (N318S)

Ref Sequence

ENSEMBL: ENSMUSP00000088249 (fasta)

Gene Model

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

AlphaFold

P54869

Predicted Effect

probably benign
Transcript: ENSMUST00000090746
AA Change: N318S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000088249
Gene: ENSMUSG00000027875
AA Change: N318S

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
AA Change: N318S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000113296
Gene: ENSMUSG00000027875
AA Change: N318S

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (72/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	C	1: 156,461,509 (GRCm39)		probably null	Het
Acsf3	A	G	8: 123,517,401 (GRCm39)	Y399C	probably benign	Het
Acsm5	A	T	7: 119,136,511 (GRCm39)	T361S	probably benign	Het
Agap1	T	G	1: 89,694,070 (GRCm39)	I456S	probably benign	Het
Ahnak2	A	T	12: 112,780,802 (GRCm38)	V70E		Het
Alb	T	A	5: 90,610,575 (GRCm39)	S52T	probably benign	Het
Ankle1	A	G	8: 71,860,189 (GRCm39)	T256A	probably damaging	Het
Armt1	G	A	10: 4,400,855 (GRCm39)	V201M	possibly damaging	Het
Atp2a2	T	C	5: 122,605,792 (GRCm39)	T388A	probably benign	Het
Atp6v0a2	T	C	5: 124,796,930 (GRCm39)	L770P	probably damaging	Het
B4galnt3	A	T	6: 120,192,003 (GRCm39)	W578R	possibly damaging	Het
Babam2	T	C	5: 31,859,197 (GRCm39)	S2P	probably damaging	Het
Baz2a	A	G	10: 127,960,090 (GRCm39)	H1459R	possibly damaging	Het
Bbs7	C	T	3: 36,658,575 (GRCm39)	R233Q	probably benign	Het
Cacna2d1	G	A	5: 16,575,586 (GRCm39)	G1076R	probably damaging	Het
Camsap2	C	T	1: 136,201,483 (GRCm39)		probably null	Het
Car10	A	G	11: 93,490,077 (GRCm39)	N273D	probably benign	Het
Ccdc66	T	C	14: 27,208,880 (GRCm39)	D458G	probably benign	Het
Ccdc7a	T	A	8: 129,607,633 (GRCm39)	H982L	possibly damaging	Het
Col9a1	A	G	1: 24,246,479 (GRCm39)	K386E	possibly damaging	Het
Ctcfl	A	G	2: 172,949,588 (GRCm39)	I415T	probably benign	Het
Cyp3a16	G	C	5: 145,404,280 (GRCm39)	Y54*	probably null	Het
Dact2	T	C	17: 14,416,797 (GRCm39)	T468A	probably benign	Het
Dgkb	T	A	12: 38,197,554 (GRCm39)	L355*	probably null	Het
Dhx40	A	T	11: 86,697,442 (GRCm39)	C42S	possibly damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dop1a	G	T	9: 86,394,830 (GRCm39)	E637*	probably null	Het
Dpp4	G	T	2: 62,178,186 (GRCm39)	P649T	probably damaging	Het
Eri3	T	A	4: 117,506,580 (GRCm39)	I303K	probably benign	Het
Foxi1	A	T	11: 34,155,783 (GRCm39)	Y282*	probably null	Het
Gdi2	T	A	13: 3,606,363 (GRCm39)	Y146*	probably null	Het
Gns	A	G	10: 121,212,557 (GRCm39)	Y173C	probably damaging	Het
Gpc1	C	A	1: 92,786,093 (GRCm39)	P494Q	possibly damaging	Het
Habp2	G	T	19: 56,302,518 (GRCm39)	G274V	probably damaging	Het
Hcfc2	T	A	10: 82,544,846 (GRCm39)	Y159*	probably null	Het
Hmcn2	T	A	2: 31,347,978 (GRCm39)	S4875T	possibly damaging	Het
Lnpep	A	T	17: 17,758,803 (GRCm39)	M847K	probably benign	Het
Mmp16	A	C	4: 18,093,366 (GRCm39)	M374L	probably benign	Het
Mrpl38	A	G	11: 116,029,396 (GRCm39)	I40T	possibly damaging	Het
Ncstn	T	C	1: 171,908,830 (GRCm39)	T46A	possibly damaging	Het
Nlrp1a	C	T	11: 71,015,068 (GRCm39)	V61I	probably benign	Het
Npas2	G	T	1: 39,326,658 (GRCm39)	V48L	probably damaging	Het
Or13p5	A	G	4: 118,592,605 (GRCm39)	Y293C	probably damaging	Het
Or52ac1	G	A	7: 104,246,284 (GRCm39)	L35F	probably benign	Het
Or6c6	C	T	10: 129,187,263 (GRCm39)	T277I	possibly damaging	Het
Pcyox1	A	T	6: 86,368,713 (GRCm39)	N268K	possibly damaging	Het
Pramel14	A	T	4: 143,720,090 (GRCm39)		probably null	Het
Prr27	T	C	5: 87,991,135 (GRCm39)	L249P	probably damaging	Het
Psat1	A	T	19: 15,894,508 (GRCm39)	V168D	probably damaging	Het
Psg17	G	T	7: 18,548,586 (GRCm39)	T395K	possibly damaging	Het
Ptgis	A	G	2: 167,048,676 (GRCm39)	Y447H	probably benign	Het
Rad50	T	A	11: 53,575,102 (GRCm39)	N607I	probably benign	Het
Rps6ka2	T	C	17: 7,562,662 (GRCm39)	Y602H	possibly damaging	Het
Senp6	G	A	9: 80,049,406 (GRCm39)	R1010H	probably damaging	Het
Slc8a3	C	A	12: 81,361,827 (GRCm39)	D331Y	probably damaging	Het
Slc9c1	G	A	16: 45,370,479 (GRCm39)	S240N	probably damaging	Het
Slf1	A	G	13: 77,214,826 (GRCm39)	L620P	probably damaging	Het
Snx19	A	G	9: 30,351,473 (GRCm39)	E847G	probably damaging	Het
Spaca6	T	C	17: 18,052,369 (GRCm39)	V103A	probably benign	Het
Tbk1	A	G	10: 121,388,404 (GRCm39)	Y591H	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Tfap2a	G	A	13: 40,882,236 (GRCm39)	T15I	possibly damaging	Het
Tgm2	G	A	2: 157,962,188 (GRCm39)	R544*	probably null	Het
Tmem116	T	A	5: 121,605,918 (GRCm39)	I90K		Het
Tmem30c	A	C	16: 57,086,777 (GRCm39)	L342R	probably damaging	Het
Trpm6	C	T	19: 18,755,949 (GRCm39)	T64I	probably benign	Het
Ttll8	A	G	15: 88,819,159 (GRCm39)		probably null	Het
Vcpip1	A	G	1: 9,816,307 (GRCm39)	I692T	probably damaging	Het
Vmn1r169	T	G	7: 23,276,853 (GRCm39)	F82V	probably benign	Het
Vmn1r178	G	A	7: 23,593,378 (GRCm39)	C142Y	probably benign	Het
Vmn2r16	T	A	5: 109,488,331 (GRCm39)	Y401*	probably null	Het
Wdr91	A	G	6: 34,869,375 (GRCm39)	V383A	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
R5708:Hmgcs2	UTSW	3	98,198,478 (GRCm39)	missense	probably damaging	1.00
R5742:Hmgcs2	UTSW	3	98,204,832 (GRCm39)	missense	probably benign
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'- AGATAGGAACCATCTCTCTGGG -3'
(R):5'- ATGGCTTAGCATCCCTTCTG -3'

Sequencing Primer
(F):5'- AACCATCTCTCTGGGAAGCTG -3'
(R):5'- CATCCCTTCTGCTGTGTTGGAG -3'

Posted On

2019-06-26