Mutagenetix > Incidental Mutation

Incidental Mutation 'R0046:Cpt1c'

43705

Institutional Source

Beutler Lab

Gene Symbol

Cpt1c

Ensembl Gene

ENSMUSG00000007783

Gene Name

carnitine palmitoyltransferase 1c

Synonyms

9630004I06Rik, CPT I-C

MMRRC Submission

038340-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0046 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44959372-44974851 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 44959832 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063761] [ENSMUST00000080233] [ENSMUST00000120929] [ENSMUST00000212836]

AlphaFold

Q8BGD5

Predicted Effect

probably benign
Transcript: ENSMUST00000063761

SMART Domains

Protein: ENSMUSP00000069539
Gene: ENSMUSG00000007783

Domain	Start	End	E-Value	Type
Pfam:CPT_N	1	47	2.3e-21	PFAM
transmembrane domain	104	126	N/A	INTRINSIC
Pfam:Carn_acyltransf	171	757	7.7e-167	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080233

SMART Domains

Protein: ENSMUSP00000079122
Gene: ENSMUSG00000059891

Domain	Start	End	E-Value	Type
Pfam:TSKS	26	525	5.7e-281	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120929

SMART Domains

Protein: ENSMUSP00000112673
Gene: ENSMUSG00000059891

Domain	Start	End	E-Value	Type
Pfam:TSKS	26	585	8.1e-297	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208475

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211901

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212217

Predicted Effect

probably benign
Transcript: ENSMUST00000212836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212890

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (83/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Targeted mutations in this gene result in reduced body weight, increases in circulating fatty acid levels and mild insulin resistance. Mice homozygous for a different targeted knock-out exhibit reduced ceramide levels, impaired dendritic spine maturationand impaired spatial learning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	T	4: 56,743,877	K135*	probably null	Het
Adamts16	A	G	13: 70,763,460	S871P	probably benign	Het
Adcy10	A	T	1: 165,539,834	I558F	probably damaging	Het
Adsl	T	G	15: 80,962,788		probably null	Het
Aldob	T	C	4: 49,543,842	I47V	possibly damaging	Het
Alkbh8	A	G	9: 3,343,247	E46G	probably damaging	Het
Ankrd33b	G	A	15: 31,367,337	P19L	probably damaging	Het
Apoa5	T	C	9: 46,269,998	L124S	probably damaging	Het
Atp1a4	A	T	1: 172,240,097	L533Q	probably benign	Het
Atp7b	T	C	8: 22,059,995	T9A	probably benign	Het
Auh	G	A	13: 52,929,385		probably benign	Het
B3gnt3	T	C	8: 71,692,923	Y267C	probably damaging	Het
BC051142	T	C	17: 34,460,121		probably null	Het
Card11	T	C	5: 140,908,524	T117A	possibly damaging	Het
Ccdc39	A	G	3: 33,844,152	F15L	possibly damaging	Het
Chtf18	C	T	17: 25,723,460	R468Q	probably benign	Het
Cntnap5c	T	G	17: 58,359,300	D1108E	probably benign	Het
Col14a1	G	A	15: 55,408,963		probably benign	Het
Col6a6	C	T	9: 105,748,848		probably benign	Het
Col9a3	G	A	2: 180,609,487	A317T	possibly damaging	Het
Cpt2	A	G	4: 107,904,362		probably null	Het
Crebrf	T	A	17: 26,763,334	L565M	probably damaging	Het
Cyp2d41-ps	T	A	15: 82,782,035		noncoding transcript	Het
Dhx9	C	T	1: 153,472,707	V291M	probably benign	Het
Dmxl1	T	A	18: 49,878,082	V1102E	probably benign	Het
Dnah7a	A	T	1: 53,456,874		probably null	Het
Dock4	G	A	12: 40,737,360		probably benign	Het
Dpp3	G	T	19: 4,914,643	N545K	probably damaging	Het
Elmo2	T	A	2: 165,298,726	N275I	probably damaging	Het
Farp1	A	G	14: 121,255,513	K509R	probably benign	Het
Fat3	T	C	9: 15,965,979	Y3446C	possibly damaging	Het
Fgd2	T	A	17: 29,374,990		probably benign	Het
Flg	T	A	3: 93,277,721		probably benign	Het
Gas2l2	A	T	11: 83,421,910	W859R	probably damaging	Het
Gatm	T	C	2: 122,600,744	D254G	probably damaging	Het
Gjd4	T	A	18: 9,280,998	I27F	probably damaging	Het
Gsdmc2	C	A	15: 63,827,755		probably benign	Het
Haus5	C	T	7: 30,654,180	V591I	probably benign	Het
Kcnab3	G	A	11: 69,330,227		probably null	Het
Khdrbs2	A	G	1: 32,619,202	D281G	possibly damaging	Het
Krt86	A	T	15: 101,477,402	M393L	probably benign	Het
Limk1	T	C	5: 134,672,761	Y96C	probably damaging	Het
Lrp2bp	T	A	8: 46,013,155	Y100*	probably null	Het
Mamstr	T	G	7: 45,641,770		probably benign	Het
Man1a	A	G	10: 53,919,187	Y657H	probably damaging	Het
Marf1	G	A	16: 14,111,727	P1672S	possibly damaging	Het
Mboat7	T	C	7: 3,683,818	Y341C	probably damaging	Het
Nhsl1	A	T	10: 18,525,669	N881I	probably damaging	Het
Nox3	T	C	17: 3,682,961	Y225C	probably benign	Het
Nrp1	C	T	8: 128,500,608		probably benign	Het
Olfr1080	A	G	2: 86,553,632	F164S	probably damaging	Het
Olfr1214	C	T	2: 88,987,349	M284I	probably benign	Het
Olfr1260	C	T	2: 89,978,507	T243I	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr742	T	A	14: 50,516,139	*312K	probably null	Het
Pcdhb13	A	T	18: 37,444,257	M563L	probably benign	Het
Pclo	C	T	5: 14,540,479	T931M	unknown	Het
Peli2	C	T	14: 48,121,202	P16S	possibly damaging	Het
Pfas	G	T	11: 68,990,467	R1025S	probably benign	Het
Pik3c2a	A	T	7: 116,354,072	I1196N	probably damaging	Het
Pmfbp1	A	T	8: 109,535,985		probably benign	Het
Prg4	T	C	1: 150,456,086	T279A	possibly damaging	Het
Psma1	A	T	7: 114,267,205		probably benign	Het
Rab11fip1	A	G	8: 27,153,121	L550P	probably damaging	Het
Rgs12	T	A	5: 34,965,320	I149N	probably damaging	Het
Rmnd5a	T	C	6: 71,399,231	H195R	probably damaging	Het
Rnf17	T	C	14: 56,471,373	L750P	probably damaging	Het
Rtcb	T	C	10: 85,957,656	N18D	probably benign	Het
Seh1l	T	C	18: 67,792,016		probably null	Het
Sis	T	G	3: 72,932,094	N813T	probably benign	Het
Sptbn2	T	C	19: 4,745,377		probably benign	Het
Stag3	C	T	5: 138,283,023		probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Taok3	C	T	5: 117,272,229	Q829*	probably null	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Ttn	A	G	2: 76,951,542		probably benign	Het
Unc79	A	G	12: 103,125,681	E1756G	probably damaging	Het
Usp35	A	T	7: 97,313,597		probably null	Het
Vmn2r111	A	G	17: 22,548,009	F836L	probably benign	Het
Vmn2r77	A	G	7: 86,801,938	D344G	possibly damaging	Het
Zbtb40	A	G	4: 136,987,278	C1067R	probably damaging	Het

Other mutations in Cpt1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01080:Cpt1c	APN	7	44960909	missense	probably damaging	0.98
IGL01111:Cpt1c	APN	7	44965554	missense	possibly damaging	0.90
IGL01153:Cpt1c	APN	7	44966668	missense	probably damaging	0.99
IGL02232:Cpt1c	APN	7	44960156	missense	probably damaging	0.99
R0046:Cpt1c	UTSW	7	44959832	splice site	probably benign
R0141:Cpt1c	UTSW	7	44966671	missense	probably damaging	1.00
R0367:Cpt1c	UTSW	7	44959575	missense	probably benign
R0749:Cpt1c	UTSW	7	44962826	missense	probably damaging	1.00
R1384:Cpt1c	UTSW	7	44960924	splice site	probably benign
R1611:Cpt1c	UTSW	7	44960112	missense	probably benign	0.03
R3122:Cpt1c	UTSW	7	44959921	missense	probably damaging	1.00
R4892:Cpt1c	UTSW	7	44959588	missense	probably benign	0.14
R5175:Cpt1c	UTSW	7	44971357	missense	probably damaging	1.00
R6029:Cpt1c	UTSW	7	44965124	missense	probably benign	0.00
R6352:Cpt1c	UTSW	7	44966795	critical splice donor site	probably null
R6856:Cpt1c	UTSW	7	44959918	missense	probably damaging	1.00
R7621:Cpt1c	UTSW	7	44967092	missense	probably damaging	1.00
R7749:Cpt1c	UTSW	7	44962265	missense	probably benign	0.16
R7883:Cpt1c	UTSW	7	44964014	splice site	probably null
R8178:Cpt1c	UTSW	7	44959653	missense	probably damaging	0.99
R9165:Cpt1c	UTSW	7	44959501	makesense	probably null
R9225:Cpt1c	UTSW	7	44960789	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CGCTTGAAATGCTGTCCAACCC -3'
(R):5'- GCAGACACACCTGATTGATGTCCAC -3'

Sequencing Primer
(F):5'- CCAACAGGGCATTTTCGATG -3'
(R):5'- GCCTGTGAGTGAACTGGAC -3'

Posted On

2013-05-29