Incidental Mutation 'IGL00785:Cpt1a'
ID9878
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpt1a
Ensembl Gene ENSMUSG00000024900
Gene Namecarnitine palmitoyltransferase 1a, liver
SynonymsL-CPT I, CPTI, Cpt1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00785
Quality Score
Status
Chromosome19
Chromosomal Location3323301-3385732 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 3366389 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 313 (N313K)
Ref Sequence ENSEMBL: ENSMUSP00000025835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025835]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025835
AA Change: N313K

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000025835
Gene: ENSMUSG00000024900
AA Change: N313K

DomainStartEndE-ValueType
Pfam:CPT_N 1 47 2.3e-30 PFAM
transmembrane domain 49 71 N/A INTRINSIC
transmembrane domain 104 126 N/A INTRINSIC
Pfam:Carn_acyltransf 171 762 6e-186 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 mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality. Heterozygous null mice display decreased serum glucose and increased serum free fatty acid levels after fasting. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Crb2 G A 2: 37,792,064 C819Y probably damaging Het
Ctnna3 T G 10: 63,566,833 F108V probably damaging Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Fam120a A G 13: 48,889,133 S931P probably benign Het
Ganc A C 2: 120,441,598 Y579S probably damaging Het
Hsd17b12 A G 2: 94,045,414 S189P probably damaging Het
Kif11 C A 19: 37,404,297 L559I probably benign Het
Kif11 T C 19: 37,404,298 L559P probably damaging Het
Luc7l2 T C 6: 38,598,786 S261P possibly damaging Het
Myo7a T C 7: 98,054,348 K2035E probably damaging Het
Nbea A G 3: 55,955,393 S1813P probably benign Het
Osbpl8 A G 10: 111,273,044 T396A probably benign Het
Ppfibp2 A G 7: 107,737,887 T560A probably benign Het
Rictor A C 15: 6,776,950 Q683P probably damaging Het
Ryr3 A T 2: 112,836,103 H1519Q possibly damaging Het
Slc34a2 A T 5: 53,065,608 I347F probably benign Het
Sned1 C A 1: 93,274,169 probably benign Het
Ssfa2 A G 2: 79,657,268 E565G possibly damaging Het
St7l A G 3: 104,873,579 probably benign Het
Trmu T A 15: 85,882,831 D80E probably benign Het
Trpv4 A G 5: 114,628,625 V620A probably damaging Het
Ubr2 G A 17: 46,944,865 T1370I possibly damaging Het
Xpo5 T C 17: 46,204,692 V48A probably damaging Het
Zfp638 T C 6: 83,929,164 W104R probably damaging Het
Other mutations in Cpt1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
allosouris UTSW 19 3378472 missense probably damaging 1.00
Tyrannosouris UTSW 19 3362156 missense probably damaging 1.00
R0029:Cpt1a UTSW 19 3381674 missense probably benign 0.04
R0029:Cpt1a UTSW 19 3381674 missense probably benign 0.04
R0305:Cpt1a UTSW 19 3378455 missense probably benign
R0963:Cpt1a UTSW 19 3381634 missense probably damaging 1.00
R1511:Cpt1a UTSW 19 3365788 splice site probably benign
R2102:Cpt1a UTSW 19 3371585 missense probably benign 0.25
R3034:Cpt1a UTSW 19 3378390 missense probably damaging 1.00
R3153:Cpt1a UTSW 19 3356430 missense probably damaging 0.99
R5195:Cpt1a UTSW 19 3383800 missense possibly damaging 0.88
R5391:Cpt1a UTSW 19 3349260 missense probably damaging 0.98
R5964:Cpt1a UTSW 19 3365760 missense possibly damaging 0.80
R6031:Cpt1a UTSW 19 3371556 splice site probably null
R6031:Cpt1a UTSW 19 3371556 splice site probably null
R6246:Cpt1a UTSW 19 3376550 missense probably damaging 0.99
R6339:Cpt1a UTSW 19 3362152 missense probably benign 0.27
R6427:Cpt1a UTSW 19 3362156 missense probably damaging 1.00
R6535:Cpt1a UTSW 19 3365788 splice site probably null
R6621:Cpt1a UTSW 19 3378472 missense probably damaging 1.00
R6892:Cpt1a UTSW 19 3371660 missense probably benign 0.00
R7142:Cpt1a UTSW 19 3375100 missense probably benign 0.00
R7385:Cpt1a UTSW 19 3380155 missense probably damaging 0.99
R7908:Cpt1a UTSW 19 3362202 missense probably benign 0.26
R8098:Cpt1a UTSW 19 3370849 missense probably benign
R8362:Cpt1a UTSW 19 3370744 nonsense probably null
R8444:Cpt1a UTSW 19 3381981 missense probably benign
X0019:Cpt1a UTSW 19 3366348 missense probably benign 0.01
Z1177:Cpt1a UTSW 19 3366370 missense probably damaging 1.00
Z1177:Cpt1a UTSW 19 3370727 missense probably damaging 1.00
Posted On2012-12-06