Mutagenetix > Incidental Mutation

Incidental Mutation 'R0046:Cpt1c'

16042

Institutional Source

Beutler Lab

Gene Symbol

Cpt1c

Ensembl Gene

ENSMUSG00000007783

Gene Name

carnitine palmitoyltransferase 1c

Synonyms

CPT I-C, 9630004I06Rik

MMRRC Submission

038340-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0046 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

44608796-44624275 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 44609256 bp (GRCm39)

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: 89.2%
3x: 86.2%
10x: 78.3%
20x: 64.0%

Validation Efficiency

98% (86/88)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	T	4: 56,743,877 (GRCm39)	K135*	probably null	Het
Adamts16	A	G	13: 70,911,579 (GRCm39)	S871P	probably benign	Het
Adcy10	A	T	1: 165,367,403 (GRCm39)	I558F	probably damaging	Het
Adsl	T	G	15: 80,846,989 (GRCm39)		probably null	Het
Aldob	T	C	4: 49,543,842 (GRCm39)	I47V	possibly damaging	Het
Alkbh8	A	G	9: 3,343,247 (GRCm39)	E46G	probably damaging	Het
Atp1a4	A	T	1: 172,067,664 (GRCm39)	L533Q	probably benign	Het
Auts2	T	C	5: 131,799,624 (GRCm39)		noncoding transcript	Het
B3gnt3	T	C	8: 72,145,567 (GRCm39)	Y267C	probably damaging	Het
Ccdc39	A	G	3: 33,898,301 (GRCm39)	F15L	possibly damaging	Het
Cntnap5c	T	G	17: 58,666,295 (GRCm39)	D1108E	probably benign	Het
Col14a1	G	A	15: 55,272,359 (GRCm39)		probably benign	Het
Col9a3	G	A	2: 180,251,280 (GRCm39)	A317T	possibly damaging	Het
Cpt2	A	G	4: 107,761,559 (GRCm39)		probably null	Het
Crebrf	T	A	17: 26,982,308 (GRCm39)	L565M	probably damaging	Het
Dmxl1	T	A	18: 50,011,149 (GRCm39)	V1102E	probably benign	Het
Dock4	G	A	12: 40,787,359 (GRCm39)		probably benign	Het
Dpp3	G	T	19: 4,964,671 (GRCm39)	N545K	probably damaging	Het
Elmo2	T	A	2: 165,140,646 (GRCm39)	N275I	probably damaging	Het
Farp1	A	G	14: 121,492,925 (GRCm39)	K509R	probably benign	Het
Flg	T	A	3: 93,185,028 (GRCm39)		probably benign	Het
Gas2l2	A	T	11: 83,312,736 (GRCm39)	W859R	probably damaging	Het
Gatm	T	C	2: 122,431,225 (GRCm39)	D254G	probably damaging	Het
Gjd4	T	A	18: 9,280,998 (GRCm39)	I27F	probably damaging	Het
Gm19410	A	G	8: 36,269,799 (GRCm39)	E1148G	probably benign	Het
Haus5	C	T	7: 30,353,605 (GRCm39)	V591I	probably benign	Het
Kcnab3	G	A	11: 69,221,053 (GRCm39)		probably null	Het
Limk1	T	C	5: 134,701,615 (GRCm39)	Y96C	probably damaging	Het
Lrp2bp	T	A	8: 46,466,192 (GRCm39)	Y100*	probably null	Het
Ly75	A	T	2: 60,169,801 (GRCm39)		probably benign	Het
Mamstr	T	G	7: 45,291,194 (GRCm39)		probably benign	Het
Man1a	A	G	10: 53,795,283 (GRCm39)	Y657H	probably damaging	Het
Marf1	G	A	16: 13,929,591 (GRCm39)	P1672S	possibly damaging	Het
Mboat7	T	C	7: 3,686,817 (GRCm39)	Y341C	probably damaging	Het
Nhsl1	A	T	10: 18,401,417 (GRCm39)	N881I	probably damaging	Het
Nox3	T	C	17: 3,733,236 (GRCm39)	Y225C	probably benign	Het
Or4c109	C	T	2: 88,817,693 (GRCm39)	M284I	probably benign	Het
Or4c35	C	T	2: 89,808,851 (GRCm39)	T243I	probably damaging	Het
Pclo	C	T	5: 14,590,493 (GRCm39)	T931M	unknown	Het
Pfas	G	T	11: 68,881,293 (GRCm39)	R1025S	probably benign	Het
Prg4	T	C	1: 150,331,837 (GRCm39)	T279A	possibly damaging	Het
Psma1	A	T	7: 113,866,440 (GRCm39)		probably benign	Het
Rab11fip1	A	G	8: 27,643,149 (GRCm39)	L550P	probably damaging	Het
Rgs12	T	A	5: 35,122,664 (GRCm39)	I149N	probably damaging	Het
Rmnd5a	T	C	6: 71,376,215 (GRCm39)	H195R	probably damaging	Het
Rnf17	T	C	14: 56,708,830 (GRCm39)	L750P	probably damaging	Het
Rtcb	T	C	10: 85,793,520 (GRCm39)	N18D	probably benign	Het
Seh1l	T	C	18: 67,925,086 (GRCm39)		probably null	Het
Sptbn2	T	C	19: 4,795,405 (GRCm39)		probably benign	Het
Stag3	C	T	5: 138,281,285 (GRCm39)		probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Taok3	C	T	5: 117,410,294 (GRCm39)	Q829*	probably null	Het
Tsbp1	T	C	17: 34,679,095 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,781,886 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,091,940 (GRCm39)	E1756G	probably damaging	Het
Usp35	A	T	7: 96,962,804 (GRCm39)		probably null	Het
Zbtb40	A	G	4: 136,714,589 (GRCm39)	C1067R	probably damaging	Het

Other mutations in Cpt1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01080:Cpt1c	APN	7	44,610,333 (GRCm39)	missense	probably damaging	0.98
IGL01111:Cpt1c	APN	7	44,614,978 (GRCm39)	missense	possibly damaging	0.90
IGL01153:Cpt1c	APN	7	44,616,092 (GRCm39)	missense	probably damaging	0.99
IGL02232:Cpt1c	APN	7	44,609,580 (GRCm39)	missense	probably damaging	0.99
R0046:Cpt1c	UTSW	7	44,609,256 (GRCm39)	splice site	probably benign
R0141:Cpt1c	UTSW	7	44,616,095 (GRCm39)	missense	probably damaging	1.00
R0367:Cpt1c	UTSW	7	44,608,999 (GRCm39)	missense	probably benign
R0749:Cpt1c	UTSW	7	44,612,250 (GRCm39)	missense	probably damaging	1.00
R1384:Cpt1c	UTSW	7	44,610,348 (GRCm39)	splice site	probably benign
R1611:Cpt1c	UTSW	7	44,609,536 (GRCm39)	missense	probably benign	0.03
R3122:Cpt1c	UTSW	7	44,609,345 (GRCm39)	missense	probably damaging	1.00
R4892:Cpt1c	UTSW	7	44,609,012 (GRCm39)	missense	probably benign	0.14
R5175:Cpt1c	UTSW	7	44,620,781 (GRCm39)	missense	probably damaging	1.00
R6029:Cpt1c	UTSW	7	44,614,548 (GRCm39)	missense	probably benign	0.00
R6352:Cpt1c	UTSW	7	44,616,219 (GRCm39)	critical splice donor site	probably null
R6856:Cpt1c	UTSW	7	44,609,342 (GRCm39)	missense	probably damaging	1.00
R7621:Cpt1c	UTSW	7	44,616,516 (GRCm39)	missense	probably damaging	1.00
R7749:Cpt1c	UTSW	7	44,611,689 (GRCm39)	missense	probably benign	0.16
R7883:Cpt1c	UTSW	7	44,613,438 (GRCm39)	splice site	probably null
R8178:Cpt1c	UTSW	7	44,609,077 (GRCm39)	missense	probably damaging	0.99
R9165:Cpt1c	UTSW	7	44,608,925 (GRCm39)	makesense	probably null
R9225:Cpt1c	UTSW	7	44,610,213 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-01-08