Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00332:Cpt1b'

4054

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpt1b

Ensembl Gene

ENSMUSG00000078937

Gene Name

carnitine palmitoyltransferase 1b, muscle

Synonyms

M-CPTI, M-CPT I, Cpt1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00332

Quality Score

Status

Chromosome

Chromosomal Location

89416405-89425863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89420863 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 394 (E394G)

Ref Sequence

ENSEMBL: ENSMUSP00000104936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052315] [ENSMUST00000109313] [ENSMUST00000168376]

AlphaFold

Q924X2

Predicted Effect

probably benign
Transcript: ENSMUST00000052315

Predicted Effect

probably benign
Transcript: ENSMUST00000109313
AA Change: E394G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000104936
Gene: ENSMUSG00000078937
AA Change: E394G

Domain	Start	End	E-Value	Type
Pfam:CPT_N	1	47	2.5e-29	PFAM
Pfam:Carn_acyltransf	173	762	1.3e-183	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165419

Predicted Effect

probably benign
Transcript: ENSMUST00000168376

SMART Domains

Protein: ENSMUSP00000129786
Gene: ENSMUSG00000078937

Domain	Start	End	E-Value	Type
PDB:2LE3\|A	1	42	1e-21	PDB

Predicted Effect

unknown
Transcript: ENSMUST00000168879
AA Change: E24G

SMART Domains

Protein: ENSMUSP00000128188
Gene: ENSMUSG00000078937
AA Change: E24G

Domain	Start	End	E-Value	Type
Pfam:Carn_acyltransf	3	148	3.5e-34	PFAM

Coding Region Coverage

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, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009]
PHENOTYPE: Homozygous null mice die in utero prior to E9.5. Heterozygous mutant mice exhibit susceptibility to fatal hypothermia following cold exposure, with females more severely affected. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,176,421	Y404H	possibly damaging	Het
Adgrv1	T	A	13: 81,472,877		probably benign	Het
Akap13	A	G	7: 75,728,919	K2107E	probably damaging	Het
Ankrd42	A	G	7: 92,584,454		probably benign	Het
Apba3	C	T	10: 81,273,067	P555S	probably damaging	Het
Aplnr	A	G	2: 85,137,641	S337G	probably benign	Het
Arhgef40	A	G	14: 51,988,960	N154D	probably damaging	Het
Asb14	A	G	14: 26,912,041	K401R	probably benign	Het
Aspn	C	A	13: 49,566,492	T328K	probably benign	Het
Barhl2	C	T	5: 106,455,499	A265T	possibly damaging	Het
Brca2	T	A	5: 150,539,898	H1042Q	probably benign	Het
C3	A	G	17: 57,226,004	L167P	probably benign	Het
Ccdc33	A	G	9: 58,069,974		probably benign	Het
Cdk10	T	A	8: 123,230,324	M222K	possibly damaging	Het
Cfap45	C	T	1: 172,535,345		probably benign	Het
Chil3	T	A	3: 106,148,701	N352I	probably damaging	Het
Chn2	G	T	6: 54,295,922		probably null	Het
Fam166b	G	A	4: 43,428,158	R100W	possibly damaging	Het
Fcgr2b	T	A	1: 170,961,230	N273I	possibly damaging	Het
Fpr-rs7	G	A	17: 20,113,218	Q337*	probably null	Het
Fras1	T	A	5: 96,739,358	N2666K	possibly damaging	Het
Gfra3	C	T	18: 34,691,548		probably null	Het
Gm4553	T	C	7: 142,165,227	S155G	unknown	Het
Gpr75	C	T	11: 30,891,590	T165I	probably damaging	Het
Gzmd	A	T	14: 56,130,280	C179S	probably damaging	Het
Hand1	T	G	11: 57,831,749	H13P	probably damaging	Het
Irak3	C	T	10: 120,178,067		probably null	Het
Isl2	T	A	9: 55,544,969	L275Q	possibly damaging	Het
Itgb2	T	C	10: 77,557,406	V367A	probably damaging	Het
Katna1	T	C	10: 7,762,994		probably benign	Het
Myh6	A	G	14: 54,946,993	M1627T	probably benign	Het
Naprt	A	G	15: 75,893,315	Y187H	probably damaging	Het
Nedd4	T	A	9: 72,735,089	V550E	probably damaging	Het
Nt5c2	A	G	19: 46,896,515	V252A	possibly damaging	Het
Olfr1089	T	C	2: 86,733,235	I126V	possibly damaging	Het
Olfr1504	C	T	19: 13,887,581	V210I	probably benign	Het
P2ry2	A	G	7: 100,998,186	V304A	probably damaging	Het
Pde4dip	T	C	3: 97,767,277	N108D	probably benign	Het
Pdgfrl	A	G	8: 40,985,623	T199A	probably damaging	Het
Plaa	A	G	4: 94,582,607	Y431H	probably benign	Het
Pls1	A	T	9: 95,782,419	I177N	possibly damaging	Het
Plxna2	T	C	1: 194,789,830	F1035L	probably damaging	Het
Ppp6r3	A	T	19: 3,514,729		probably null	Het
Prpf4b	T	C	13: 34,883,907	S240P	probably benign	Het
Reg2	T	A	6: 78,406,221	Y50*	probably null	Het
Rev3l	C	T	10: 39,806,969	T361I	probably benign	Het
Rps4l	A	G	6: 148,354,885		probably benign	Het
Scn11a	A	T	9: 119,769,916	F1183I	probably damaging	Het
Sh2b2	T	C	5: 136,224,419	E327G	probably damaging	Het
Shank2	A	G	7: 144,411,847	K1057R	probably damaging	Het
Sim2	T	A	16: 94,114,944	Y255*	probably null	Het
Snx9	A	G	17: 5,899,361	N112S	probably benign	Het
Sphkap	T	A	1: 83,280,516	I169F	probably damaging	Het
Spink5	A	G	18: 43,967,044	T43A	probably benign	Het
Stac2	C	T	11: 98,041,179	S265N	probably benign	Het
Tbx20	A	G	9: 24,758,748	V91A	probably damaging	Het
Tgfbr2	C	T	9: 116,110,189	R190H	probably damaging	Het
Ubr2	A	G	17: 46,990,990		probably null	Het
Wdfy3	C	T	5: 101,915,338		probably null	Het
Wdr82	T	C	9: 106,184,250	V166A	probably benign	Het
Zfhx4	C	T	3: 5,242,341	A209V	probably damaging	Het
Zfp518b	T	A	5: 38,673,766	T299S	possibly damaging	Het

Other mutations in Cpt1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Cpt1b	APN	15	89422293	missense	probably benign	0.22
IGL01142:Cpt1b	APN	15	89418993	missense	probably benign
IGL02329:Cpt1b	APN	15	89423739	missense	probably benign
IGL02740:Cpt1b	APN	15	89424332	missense	probably damaging	1.00
IGL03196:Cpt1b	APN	15	89424395	missense	probably benign
macellaio	UTSW	15	89423654	critical splice donor site	probably null
oleagenous	UTSW	15	89425214	missense	probably damaging	1.00
IGL02796:Cpt1b	UTSW	15	89424802	missense	probably benign	0.04
PIT4519001:Cpt1b	UTSW	15	89418863	missense	probably damaging	1.00
R0276:Cpt1b	UTSW	15	89419959	missense	probably benign	0.12
R0302:Cpt1b	UTSW	15	89417870	missense	probably benign
R0454:Cpt1b	UTSW	15	89424393	missense	possibly damaging	0.47
R1199:Cpt1b	UTSW	15	89419010	missense	probably benign	0.01
R1633:Cpt1b	UTSW	15	89418815	missense	probably damaging	0.98
R1674:Cpt1b	UTSW	15	89422332	missense	possibly damaging	0.64
R2087:Cpt1b	UTSW	15	89422208	missense	probably benign	0.07
R2178:Cpt1b	UTSW	15	89419043	missense	probably damaging	1.00
R2414:Cpt1b	UTSW	15	89420080	splice site	probably benign
R2507:Cpt1b	UTSW	15	89419098	missense	probably benign	0.08
R2883:Cpt1b	UTSW	15	89417869	missense	probably benign	0.00
R3432:Cpt1b	UTSW	15	89423741	missense	possibly damaging	0.85
R3783:Cpt1b	UTSW	15	89425189	missense	probably damaging	1.00
R4574:Cpt1b	UTSW	15	89424044	splice site	probably null
R4737:Cpt1b	UTSW	15	89421406	missense	probably benign	0.03
R5122:Cpt1b	UTSW	15	89424023	missense	probably benign	0.09
R5320:Cpt1b	UTSW	15	89419274	missense	probably benign	0.00
R5365:Cpt1b	UTSW	15	89420107	missense	possibly damaging	0.78
R5699:Cpt1b	UTSW	15	89424273	missense	probably benign	0.44
R5710:Cpt1b	UTSW	15	89425206	missense	probably damaging	1.00
R5873:Cpt1b	UTSW	15	89420728	missense	probably damaging	1.00
R5941:Cpt1b	UTSW	15	89425214	missense	probably damaging	1.00
R6163:Cpt1b	UTSW	15	89424417	missense	probably benign	0.15
R6197:Cpt1b	UTSW	15	89424834	missense	possibly damaging	0.77
R6323:Cpt1b	UTSW	15	89419063	missense	probably benign	0.10
R6486:Cpt1b	UTSW	15	89420824	missense	probably benign
R7571:Cpt1b	UTSW	15	89421343	critical splice donor site	probably null
R7648:Cpt1b	UTSW	15	89421367	missense	probably damaging	1.00
R7743:Cpt1b	UTSW	15	89421404	missense	probably benign	0.25
R7893:Cpt1b	UTSW	15	89423654	critical splice donor site	probably null
R8021:Cpt1b	UTSW	15	89421426	missense	probably benign	0.00
R8207:Cpt1b	UTSW	15	89418815	missense	probably damaging	0.98
R8394:Cpt1b	UTSW	15	89422287	critical splice donor site	probably null
R8552:Cpt1b	UTSW	15	89422321	missense	probably damaging	1.00
R8732:Cpt1b	UTSW	15	89424425	missense	probably benign

Posted On

2012-04-20