Incidental Mutation 'IGL01153:Cpt1c'
ID51684
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpt1c
Ensembl Gene ENSMUSG00000007783
Gene Namecarnitine palmitoyltransferase 1c
Synonyms9630004I06Rik, CPT I-C
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01153
Quality Score
Status
Chromosome7
Chromosomal Location44959372-44974851 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 44966668 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 307 (E307K)
Ref Sequence ENSEMBL: ENSMUSP00000148815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063761] [ENSMUST00000211862] [ENSMUST00000212255] [ENSMUST00000212836]
Predicted Effect probably damaging
Transcript: ENSMUST00000063761
AA Change: E307K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000069539
Gene: ENSMUSG00000007783
AA Change: E307K

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000207515
Predicted Effect probably benign
Transcript: ENSMUST00000211862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211901
Predicted Effect probably benign
Transcript: ENSMUST00000212255
Predicted Effect probably damaging
Transcript: ENSMUST00000212836
AA Change: E307K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212890
Coding Region Coverage
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,419,128 I5309V probably benign Het
Amy1 A G 3: 113,556,075 V482A possibly damaging Het
Ankrd22 A T 19: 34,128,829 V81E probably damaging Het
Ccr5 C A 9: 124,124,612 T84K probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Chchd3 A T 6: 33,008,567 probably benign Het
Cyth2 T C 7: 45,808,389 Y120C probably damaging Het
Dnajb11 T A 16: 22,862,680 D69E probably benign Het
Ece2 T A 16: 20,632,794 M215K possibly damaging Het
Enox2 C A X: 49,062,138 probably null Het
Fam120c T C X: 151,399,805 probably null Het
Fam149b A G 14: 20,377,881 T319A possibly damaging Het
Fndc1 A T 17: 7,780,042 probably null Het
Gcsh T A 8: 116,983,810 D138V probably benign Het
Herc3 T A 6: 58,860,336 H331Q probably benign Het
Iars A G 13: 49,711,805 N586D probably damaging Het
Idh3g A G X: 73,780,062 V280A probably damaging Het
Kctd18 A G 1: 57,965,391 S115P probably damaging Het
Lims2 A G 18: 31,957,317 probably null Het
Mael T C 1: 166,202,350 K334E possibly damaging Het
Me3 A C 7: 89,849,636 T475P probably damaging Het
Mrpl18 A G 17: 12,915,806 L24P possibly damaging Het
Nol4 C A 18: 22,769,793 R460L probably damaging Het
Numa1 A T 7: 101,994,744 E181V probably damaging Het
Olfr791 T A 10: 129,526,995 I256N probably damaging Het
Pex2 A T 3: 5,561,364 H128Q probably benign Het
Pex3 A T 10: 13,552,853 probably null Het
Psmb8 A G 17: 34,201,241 Y269C possibly damaging Het
Sh2d3c A G 2: 32,725,084 K62R probably benign Het
Strn4 G A 7: 16,837,921 G613D probably damaging Het
Taok2 A G 7: 126,871,032 W875R probably damaging Het
Tbc1d4 T C 14: 101,608,015 D149G possibly damaging Het
Tmem251 T A 12: 102,744,876 Y119* probably null Het
Zfp473 A G 7: 44,734,568 S113P probably damaging Het
Zfp768 A G 7: 127,344,531 Y145H possibly damaging Het
Zgrf1 G A 3: 127,602,406 G534R probably damaging Het
Other mutations in Cpt1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01080:Cpt1c APN 7 44960909 missense probably damaging 0.98
IGL01111:Cpt1c APN 7 44965554 missense possibly damaging 0.90
IGL02232:Cpt1c APN 7 44960156 missense probably damaging 0.99
R0046:Cpt1c UTSW 7 44959832 splice site probably benign
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
Posted On2013-06-21