Mutagenetix > Incidental Mutation

Incidental Mutation 'R6889:Hmgcl'

537094

Institutional Source

Beutler Lab

Gene Symbol

Hmgcl

Ensembl Gene

ENSMUSG00000028672

Gene Name

3-hydroxy-3-methylglutaryl-Coenzyme A lyase

Synonyms

MMRRC Submission

044983-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6889 (G1)

Quality Score

221.009

Status

Not validated

Chromosome

Chromosomal Location

135673759-135689928 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 135682953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 135 (T135N)

Ref Sequence

ENSEMBL: ENSMUSP00000030432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030432]

AlphaFold

P38060

Predicted Effect

probably benign
Transcript: ENSMUST00000030432
AA Change: T135N

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030432
Gene: ENSMUSG00000028672
AA Change: T135N

Domain	Start	End	E-Value	Type
Pfam:HMGL-like	32	306	2.4e-73	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

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 lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele die at midgestation exhibiting reduced embryo size, frequent cytoplasmic vacuolization in liver, heart and placenta, and marked focal hydropic swelling of mitochondria in hepatocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,861,290 (GRCm39)	D103E	probably benign	Het
Abcc3	A	T	11: 94,266,381 (GRCm39)	S70T	possibly damaging	Het
Atp6v0a1	A	G	11: 100,920,009 (GRCm39)	Y214C	possibly damaging	Het
Azi2	A	G	9: 117,878,963 (GRCm39)		probably null	Het
Cacnb2	T	A	2: 14,990,826 (GRCm39)	V636E	possibly damaging	Het
Cd8a	A	C	6: 71,351,546 (GRCm39)	T169P	probably damaging	Het
Cfap44	G	A	16: 44,224,495 (GRCm39)	V68I	probably benign	Het
Cspg4b	C	A	13: 113,454,912 (GRCm39)	S319R	probably damaging	Het
Dnaaf10	G	A	11: 17,172,309 (GRCm39)	V133M	probably damaging	Het
Eea1	G	T	10: 95,873,340 (GRCm39)	C1134F	probably benign	Het
Ehmt2	T	G	17: 35,131,748 (GRCm39)	F1192V	probably damaging	Het
Emc1	T	C	4: 139,092,661 (GRCm39)	F531L	probably damaging	Het
Eme1	G	A	11: 94,541,303 (GRCm39)	T173I	probably benign	Het
Gli2	A	T	1: 118,772,146 (GRCm39)	C520S	probably damaging	Het
Gm43302	T	C	5: 105,428,004 (GRCm39)	K186E	probably benign	Het
Gpr108	A	T	17: 57,543,990 (GRCm39)	N405K	probably damaging	Het
Hydin	G	A	8: 111,259,488 (GRCm39)	D2487N	possibly damaging	Het
Igfl3	G	T	7: 17,913,725 (GRCm39)	R25L	probably benign	Het
Igsf10	A	C	3: 59,239,354 (GRCm39)	S276A	probably benign	Het
Kctd1	A	G	18: 15,107,045 (GRCm39)	S211P	probably damaging	Het
Kctd7	A	T	5: 130,181,342 (GRCm39)	Q255L	probably benign	Het
Lrig1	A	G	6: 94,602,044 (GRCm39)	Y270H	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Myh15	A	G	16: 48,973,474 (GRCm39)	N1248S	possibly damaging	Het
Nod1	A	G	6: 54,921,094 (GRCm39)	F408S	probably benign	Het
Nrp1	T	C	8: 129,219,538 (GRCm39)	F652S	probably damaging	Het
Opa1	G	T	16: 29,439,686 (GRCm39)	R792L	probably benign	Het
Or10ak14	G	A	4: 118,611,504 (GRCm39)	T79I	probably damaging	Het
Or51t4	A	T	7: 102,597,975 (GRCm39)	H91L	possibly damaging	Het
Or5p63	A	T	7: 107,811,125 (GRCm39)	F204I	probably benign	Het
Or6c74	T	C	10: 129,870,401 (GRCm39)	M302T	probably benign	Het
Pcdha6	G	T	18: 37,101,396 (GRCm39)	L196F	probably damaging	Het
Pdia2	A	T	17: 26,415,944 (GRCm39)	Y347*	probably null	Het
Pdpr	G	T	8: 111,851,245 (GRCm39)		probably null	Het
Pigt	T	A	2: 164,349,251 (GRCm39)	L518Q	probably damaging	Het
Ppfibp2	A	C	7: 107,337,188 (GRCm39)	D591A	possibly damaging	Het
Prrg2	G	A	7: 44,709,413 (GRCm39)	T97M	possibly damaging	Het
Qars1	A	G	9: 108,390,382 (GRCm39)	T428A	probably damaging	Het
Rai1	T	C	11: 60,076,541 (GRCm39)	F202L	probably damaging	Het
Rars1	A	T	11: 35,699,313 (GRCm39)	M660K	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,132 (GRCm39)		probably benign	Het
Slc16a6	A	C	11: 109,345,866 (GRCm39)	F382V	probably damaging	Het
Slc30a7	T	C	3: 115,747,802 (GRCm39)	T330A	probably damaging	Het
Smc1b	A	T	15: 84,951,960 (GRCm39)	L1157Q	probably damaging	Het
Snx4	G	T	16: 33,071,840 (GRCm39)	A4S	possibly damaging	Het
Sv2b	A	C	7: 74,775,515 (GRCm39)		probably null	Het
Syt9	A	T	7: 107,024,493 (GRCm39)	I129L	probably damaging	Het
Ttbk2	T	C	2: 120,603,834 (GRCm39)	E198G	probably damaging	Het
Ubr3	A	T	2: 69,774,644 (GRCm39)	D488V	possibly damaging	Het
Ush2a	T	A	1: 188,530,068 (GRCm39)	C3286S	probably damaging	Het
Vill	A	G	9: 118,894,950 (GRCm39)	D56G	possibly damaging	Het
Vmn1r41	A	T	6: 89,724,352 (GRCm39)	I298F	probably damaging	Het
Vmn2r2	A	T	3: 64,024,688 (GRCm39)	V631D	probably damaging	Het
Vmn2r32	A	G	7: 7,475,573 (GRCm39)	S437P	possibly damaging	Het
Vmn2r53	A	G	7: 12,335,069 (GRCm39)	V197A	probably benign	Het
Wasf1	A	T	10: 40,796,365 (GRCm39)	I32F	probably damaging	Het
Wasf2	G	T	4: 132,922,041 (GRCm39)	A387S	unknown	Het
Zbtb14	G	A	17: 69,694,674 (GRCm39)	C124Y	probably damaging	Het
Zfp462	G	T	4: 55,007,671 (GRCm39)	A37S	probably damaging	Het
Zfp532	A	G	18: 65,820,061 (GRCm39)	E882G	possibly damaging	Het

Other mutations in Hmgcl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0226:Hmgcl	UTSW	4	135,686,039 (GRCm39)	missense	probably damaging	1.00
R0825:Hmgcl	UTSW	4	135,687,381 (GRCm39)	missense	probably benign
R2400:Hmgcl	UTSW	4	135,679,679 (GRCm39)	splice site	probably null
R3791:Hmgcl	UTSW	4	135,687,298 (GRCm39)	missense	probably benign	0.00
R4063:Hmgcl	UTSW	4	135,686,035 (GRCm39)	missense	probably damaging	1.00
R5000:Hmgcl	UTSW	4	135,689,511 (GRCm39)	missense	probably benign	0.01
R5754:Hmgcl	UTSW	4	135,677,898 (GRCm39)	missense	probably damaging	0.98
R6024:Hmgcl	UTSW	4	135,682,926 (GRCm39)	missense	probably benign	0.09
R6658:Hmgcl	UTSW	4	135,682,962 (GRCm39)	missense	probably damaging	0.96
R7074:Hmgcl	UTSW	4	135,681,178 (GRCm39)	missense	probably benign	0.00
R7238:Hmgcl	UTSW	4	135,689,424 (GRCm39)	missense	possibly damaging	0.92
R7733:Hmgcl	UTSW	4	135,687,394 (GRCm39)	missense	probably benign	0.01
R7997:Hmgcl	UTSW	4	135,687,320 (GRCm39)	nonsense	probably null
R8941:Hmgcl	UTSW	4	135,683,015 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGAATTGCTCTGCTGCCTCAC -3'
(R):5'- AGGAGTAGAGCTTGGGACAC -3'

Sequencing Primer
(F):5'- CCTGTTCCCAAGTAGGTAACATGG -3'
(R):5'- GGGACACCCAGCCCGAG -3'

Posted On

2018-10-18