Incidental Mutation 'IGL03196:Cpt1b'
ID 412828
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpt1b
Ensembl Gene ENSMUSG00000078937
Gene Name carnitine palmitoyltransferase 1b, muscle
Synonyms Cpt1, M-CPTI, M-CPT I
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03196
Quality Score
Status
Chromosome 15
Chromosomal Location 89300608-89310065 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89308598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 110 (V110A)
Ref Sequence ENSEMBL: ENSMUSP00000104936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023289] [ENSMUST00000052315] [ENSMUST00000109313] [ENSMUST00000171666] [ENSMUST00000168376] [ENSMUST00000170460]
AlphaFold Q924X2
Predicted Effect probably benign
Transcript: ENSMUST00000023289
SMART Domains Protein: ENSMUSP00000023289
Gene: ENSMUSG00000022617

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:APH 70 317 1.9e-14 PFAM
Pfam:Choline_kinase 97 308 1.5e-76 PFAM
low complexity region 324 344 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000052315
Predicted Effect probably benign
Transcript: ENSMUST00000109313
AA Change: V110A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104936
Gene: ENSMUSG00000078937
AA Change: V110A

DomainStartEndE-ValueType
Pfam:CPT_N 1 47 2.5e-29 PFAM
Pfam:Carn_acyltransf 173 762 1.3e-183 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000112664
Predicted Effect noncoding transcript
Transcript: ENSMUST00000115278
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170334
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165623
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171140
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166267
Predicted Effect probably benign
Transcript: ENSMUST00000171666
SMART Domains Protein: ENSMUSP00000127191
Gene: ENSMUSG00000022617

DomainStartEndE-ValueType
Pfam:Choline_kinase 1 142 2.5e-51 PFAM
Pfam:APH 1 149 6.9e-14 PFAM
Pfam:EcKinase 2 116 8.8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168376
SMART Domains Protein: ENSMUSP00000129786
Gene: ENSMUSG00000078937

DomainStartEndE-ValueType
PDB:2LE3|A 1 42 1e-21 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000170460
SMART Domains Protein: ENSMUSP00000128026
Gene: ENSMUSG00000022617

DomainStartEndE-ValueType
Pfam:Choline_kinase 1 176 1e-65 PFAM
Pfam:APH 8 176 6.1e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168879
SMART Domains Protein: ENSMUSP00000128188
Gene: ENSMUSG00000078937

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 3 148 3.5e-34 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 protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009]
PHENOTYPE: Homozygous null mice die in utero prior to E9.5. Heterozygous mutant mice exhibit susceptibility to fatal hypothermia following cold exposure, with females more severely affected. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T C 6: 83,138,045 (GRCm39) V57A probably damaging Het
Adck1 T C 12: 88,397,885 (GRCm39) V173A probably damaging Het
Adgrv1 C A 13: 81,594,597 (GRCm39) R4139L probably benign Het
Aqp4 T G 18: 15,526,566 (GRCm39) D305A probably benign Het
Cadm1 T C 9: 47,710,675 (GRCm39) S193P possibly damaging Het
Ccdc88a T C 11: 29,432,340 (GRCm39) S377P possibly damaging Het
Clic5 C A 17: 44,552,960 (GRCm39) H71Q possibly damaging Het
Col20a1 G A 2: 180,649,671 (GRCm39) probably null Het
Col5a1 A G 2: 27,865,610 (GRCm39) D759G unknown Het
Cplane1 A T 15: 8,230,826 (GRCm39) K1034N probably damaging Het
Cts8 C T 13: 61,401,272 (GRCm39) G85S probably benign Het
Cul5 T A 9: 53,537,180 (GRCm39) M551L probably damaging Het
Eno1b T A 18: 48,180,558 (GRCm39) D245E probably damaging Het
Fgf1 A T 18: 38,975,028 (GRCm39) Y140* probably null Het
Flt1 A G 5: 147,551,937 (GRCm39) probably null Het
Fndc7 A G 3: 108,790,760 (GRCm39) Y89H probably damaging Het
Gm3127 A T 14: 15,432,259 (GRCm39) M254L probably benign Het
Gm5849 T C 3: 90,685,089 (GRCm39) E32G probably damaging Het
Gys1 T C 7: 45,104,241 (GRCm39) probably benign Het
H2ap A G X: 9,713,349 (GRCm39) Q27R possibly damaging Het
Hdgfl2 T C 17: 56,400,607 (GRCm39) V125A probably benign Het
Igkv6-32 C T 6: 70,051,042 (GRCm39) V105I probably benign Het
Lmo3 T C 6: 138,342,993 (GRCm39) T140A probably benign Het
Marf1 A G 16: 13,958,123 (GRCm39) V793A possibly damaging Het
Mep1b A C 18: 21,228,121 (GRCm39) I575L probably benign Het
Mtmr4 T A 11: 87,491,609 (GRCm39) I155N possibly damaging Het
Muc2 T C 7: 141,301,367 (GRCm39) F361L probably damaging Het
Ncoa7 T A 10: 30,523,510 (GRCm39) probably benign Het
Nme6 C T 9: 109,670,561 (GRCm39) R71W probably damaging Het
Or56b1b T C 7: 108,164,061 (GRCm39) S314G probably benign Het
Or9g4b G A 2: 85,616,365 (GRCm39) G170D possibly damaging Het
Or9m2 A T 2: 87,820,826 (GRCm39) I124F possibly damaging Het
Osbpl9 C T 4: 108,930,061 (GRCm39) V357I probably damaging Het
Ppp4r3a A G 12: 101,015,913 (GRCm39) probably benign Het
Rnf216 T C 5: 143,066,766 (GRCm39) R474G probably damaging Het
Rpp25l A G 4: 41,712,541 (GRCm39) V78A possibly damaging Het
Sh3bp2 C A 5: 34,714,687 (GRCm39) P245Q probably damaging Het
Slc33a1 A G 3: 63,871,151 (GRCm39) F154S possibly damaging Het
Wasf2 T A 4: 132,921,732 (GRCm39) S284T unknown Het
Wdtc1 T C 4: 133,022,648 (GRCm39) E566G probably damaging Het
Zcchc14 C T 8: 122,335,877 (GRCm39) probably benign Het
Other mutations in Cpt1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Cpt1b APN 15 89,305,066 (GRCm39) missense probably benign 0.01
IGL00497:Cpt1b APN 15 89,306,496 (GRCm39) missense probably benign 0.22
IGL01142:Cpt1b APN 15 89,303,196 (GRCm39) missense probably benign
IGL02329:Cpt1b APN 15 89,307,942 (GRCm39) missense probably benign
IGL02740:Cpt1b APN 15 89,308,535 (GRCm39) missense probably damaging 1.00
macellaio UTSW 15 89,307,857 (GRCm39) critical splice donor site probably null
oleagenous UTSW 15 89,309,417 (GRCm39) missense probably damaging 1.00
IGL02796:Cpt1b UTSW 15 89,309,005 (GRCm39) missense probably benign 0.04
PIT4519001:Cpt1b UTSW 15 89,303,066 (GRCm39) missense probably damaging 1.00
R0276:Cpt1b UTSW 15 89,304,162 (GRCm39) missense probably benign 0.12
R0302:Cpt1b UTSW 15 89,302,073 (GRCm39) missense probably benign
R0454:Cpt1b UTSW 15 89,308,596 (GRCm39) missense possibly damaging 0.47
R1199:Cpt1b UTSW 15 89,303,213 (GRCm39) missense probably benign 0.01
R1633:Cpt1b UTSW 15 89,303,018 (GRCm39) missense probably damaging 0.98
R1674:Cpt1b UTSW 15 89,306,535 (GRCm39) missense possibly damaging 0.64
R2087:Cpt1b UTSW 15 89,306,411 (GRCm39) missense probably benign 0.07
R2178:Cpt1b UTSW 15 89,303,246 (GRCm39) missense probably damaging 1.00
R2414:Cpt1b UTSW 15 89,304,283 (GRCm39) splice site probably benign
R2507:Cpt1b UTSW 15 89,303,301 (GRCm39) missense probably benign 0.08
R2883:Cpt1b UTSW 15 89,302,072 (GRCm39) missense probably benign 0.00
R3432:Cpt1b UTSW 15 89,307,944 (GRCm39) missense possibly damaging 0.85
R3783:Cpt1b UTSW 15 89,309,392 (GRCm39) missense probably damaging 1.00
R4574:Cpt1b UTSW 15 89,308,247 (GRCm39) splice site probably null
R4737:Cpt1b UTSW 15 89,305,609 (GRCm39) missense probably benign 0.03
R5122:Cpt1b UTSW 15 89,308,226 (GRCm39) missense probably benign 0.09
R5320:Cpt1b UTSW 15 89,303,477 (GRCm39) missense probably benign 0.00
R5365:Cpt1b UTSW 15 89,304,310 (GRCm39) missense possibly damaging 0.78
R5699:Cpt1b UTSW 15 89,308,476 (GRCm39) missense probably benign 0.44
R5710:Cpt1b UTSW 15 89,309,409 (GRCm39) missense probably damaging 1.00
R5873:Cpt1b UTSW 15 89,304,931 (GRCm39) missense probably damaging 1.00
R5941:Cpt1b UTSW 15 89,309,417 (GRCm39) missense probably damaging 1.00
R6163:Cpt1b UTSW 15 89,308,620 (GRCm39) missense probably benign 0.15
R6197:Cpt1b UTSW 15 89,309,037 (GRCm39) missense possibly damaging 0.77
R6323:Cpt1b UTSW 15 89,303,266 (GRCm39) missense probably benign 0.10
R6486:Cpt1b UTSW 15 89,305,027 (GRCm39) missense probably benign
R7571:Cpt1b UTSW 15 89,305,546 (GRCm39) critical splice donor site probably null
R7648:Cpt1b UTSW 15 89,305,570 (GRCm39) missense probably damaging 1.00
R7743:Cpt1b UTSW 15 89,305,607 (GRCm39) missense probably benign 0.25
R7893:Cpt1b UTSW 15 89,307,857 (GRCm39) critical splice donor site probably null
R8021:Cpt1b UTSW 15 89,305,629 (GRCm39) missense probably benign 0.00
R8207:Cpt1b UTSW 15 89,303,018 (GRCm39) missense probably damaging 0.98
R8394:Cpt1b UTSW 15 89,306,490 (GRCm39) critical splice donor site probably null
R8552:Cpt1b UTSW 15 89,306,524 (GRCm39) missense probably damaging 1.00
R8732:Cpt1b UTSW 15 89,308,628 (GRCm39) missense probably benign
R9564:Cpt1b UTSW 15 89,303,472 (GRCm39) missense probably damaging 1.00
R9643:Cpt1b UTSW 15 89,303,229 (GRCm39) missense possibly damaging 0.79
Posted On 2016-08-02