Incidental Mutation 'IGL01111:Cpt1c'
ID51566
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 #IGL01111
Quality Score
Status
Chromosome7
Chromosomal Location44959372-44974851 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 44965554 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 325 (H325R)
Ref Sequence ENSEMBL: ENSMUSP00000148815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063761] [ENSMUST00000211862] [ENSMUST00000212255] [ENSMUST00000212836]
Predicted Effect possibly damaging
Transcript: ENSMUST00000063761
AA Change: H325R

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000069539
Gene: ENSMUSG00000007783
AA Change: H325R

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 noncoding transcript
Transcript: ENSMUST00000212217
Predicted Effect probably benign
Transcript: ENSMUST00000212255
Predicted Effect possibly damaging
Transcript: ENSMUST00000212836
AA Change: H325R

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik G T 2: 130,736,598 D655E possibly damaging Het
Ammecr1l T A 18: 31,772,070 Y121* probably null Het
Apc C T 18: 34,315,136 T1661I possibly damaging Het
Ccdc13 T C 9: 121,810,084 probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cyp2a22 T C 7: 26,936,458 K227E probably damaging Het
Ddx10 T C 9: 53,159,948 K682E possibly damaging Het
Dlg2 T C 7: 91,449,763 Y123H possibly damaging Het
Dnah11 A T 12: 118,142,934 probably benign Het
Dpysl2 T C 14: 66,834,232 E153G probably damaging Het
Edrf1 T A 7: 133,658,553 Y64* probably null Het
Ephb2 A T 4: 136,657,410 S897T probably benign Het
Flt1 A G 5: 147,578,336 I1092T probably damaging Het
Gabra4 T C 5: 71,633,629 Y290C probably damaging Het
Gm853 T A 4: 130,221,725 D10V probably benign Het
Hectd2 A T 19: 36,597,120 H67L probably damaging Het
Itgb2 T C 10: 77,542,000 L11P probably damaging Het
Jmy T C 13: 93,441,021 R880G probably damaging Het
Klhl2 A G 8: 64,749,047 C532R probably damaging Het
Kpna1 A G 16: 36,012,889 probably benign Het
L3mbtl2 T C 15: 81,684,898 V591A possibly damaging Het
Lepr A T 4: 101,814,655 N959Y possibly damaging Het
Man1a A T 10: 53,977,013 probably benign Het
Mov10 A T 3: 104,801,405 S431T possibly damaging Het
Mx2 A T 16: 97,558,719 Q563L probably benign Het
Nrap A T 19: 56,345,558 Y874N probably damaging Het
Nup160 T C 2: 90,733,209 I1373T probably benign Het
Nwd2 A T 5: 63,807,300 D1409V probably damaging Het
Obsl1 A T 1: 75,497,145 V744E possibly damaging Het
Olfr630 T A 7: 103,755,373 T71S probably benign Het
Pgap1 T C 1: 54,530,943 K315R probably benign Het
Rab8a T C 8: 72,175,856 V114A probably damaging Het
Sh2d6 T C 6: 72,519,829 T73A probably benign Het
Shroom1 A G 11: 53,464,048 E265G probably damaging Het
Slc8b1 G A 5: 120,532,935 V529M probably damaging Het
Srbd1 G T 17: 86,098,533 A613E probably benign Het
Stat1 G A 1: 52,142,961 probably null Het
Tbck A G 3: 132,694,407 H73R probably damaging Het
Thg1l A T 11: 45,948,224 D220E probably damaging Het
Ttn C T 2: 76,778,323 G16037D probably damaging Het
Unc13b A G 4: 43,096,927 E100G possibly damaging Het
Vmn2r81 T A 10: 79,247,997 D68E probably benign Het
Xpo6 T C 7: 126,129,568 T505A probably benign Het
Zfp976 T C 7: 42,616,287 K25E probably damaging Het
Other mutations in Cpt1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01080:Cpt1c APN 7 44960909 missense probably damaging 0.98
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
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