Incidental Mutation 'R0569:Mcat'
ID 46327
Institutional Source Beutler Lab
Gene Symbol Mcat
Ensembl Gene ENSMUSG00000048755
Gene Name malonyl CoA:ACP acyltransferase (mitochondrial)
Synonyms
MMRRC Submission 038760-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.361) question?
Stock # R0569 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 83430998-83439936 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 83433449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 198 (R198H)
Ref Sequence ENSEMBL: ENSMUSP00000051569 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016902] [ENSMUST00000061882] [ENSMUST00000229724] [ENSMUST00000229964] [ENSMUST00000230912]
AlphaFold Q8R3F5
Predicted Effect probably benign
Transcript: ENSMUST00000016902
SMART Domains Protein: ENSMUSP00000016902
Gene: ENSMUSG00000016758

DomainStartEndE-ValueType
Pfam:bcl-2I13 1 149 1.5e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000061882
AA Change: R198H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000051569
Gene: ENSMUSG00000048755
AA Change: R198H

DomainStartEndE-ValueType
low complexity region 2 24 N/A INTRINSIC
Pfam:Acyl_transf_1 62 342 5.8e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229177
Predicted Effect probably benign
Transcript: ENSMUST00000229724
AA Change: R35H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000229964
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230094
Predicted Effect probably benign
Transcript: ENSMUST00000230672
Predicted Effect probably benign
Transcript: ENSMUST00000230912
Predicted Effect probably benign
Transcript: ENSMUST00000230851
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 97% (56/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found exclusively in the mitochondrion, where it catalyzes the transfer of a malonyl group from malonyl-CoA to the mitochondrial acyl carrier protein. The encoded protein may be part of a fatty acid synthase complex that is more like the type II prokaryotic and plastid complexes rather than the type I human cytosolic complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a conditional allele activated ubiquitously consume more food, fail to gain weight, are less physically active, and suffer from loss of white adipose tissue, reduced muscle strength, kyphosis, alopecia, hypothermia and shortened lifespan. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,621,016 (GRCm39) I572M possibly damaging Het
4930447A16Rik T C 15: 37,425,863 (GRCm39) M1T probably null Het
4930590J08Rik C A 6: 91,919,559 (GRCm39) C739* probably null Het
Adcy1 T A 11: 7,096,514 (GRCm39) V634E probably benign Het
Ankfy1 T A 11: 72,644,434 (GRCm39) H710Q possibly damaging Het
Ankrd60 C T 2: 173,412,859 (GRCm39) V90M probably damaging Het
Asgr2 A T 11: 69,988,703 (GRCm39) Q132L probably benign Het
Cchcr1 T A 17: 35,839,865 (GRCm39) probably null Het
Ces1h T C 8: 94,078,774 (GRCm39) K523E unknown Het
Clec3a G T 8: 115,152,476 (GRCm39) G161C probably damaging Het
Cracr2b G A 7: 141,044,848 (GRCm39) probably benign Het
Cyp2b10 A T 7: 25,597,160 (GRCm39) L17F probably damaging Het
Dhx29 T A 13: 113,084,748 (GRCm39) N655K probably benign Het
Dst C A 1: 34,332,508 (GRCm39) L4748I probably damaging Het
Eif2b5 G C 16: 20,321,303 (GRCm39) L285F probably benign Het
Enox1 T A 14: 77,875,117 (GRCm39) D441E probably damaging Het
Fam110a T C 2: 151,812,404 (GRCm39) E122G probably damaging Het
Fam161b T A 12: 84,395,413 (GRCm39) E510V probably damaging Het
Gabrd T C 4: 155,469,880 (GRCm39) Y443C probably damaging Het
Gcn1 T G 5: 115,733,118 (GRCm39) S1052A probably benign Het
Gnptab A G 10: 88,264,419 (GRCm39) E279G possibly damaging Het
Hoxa6 T A 6: 52,185,163 (GRCm39) probably null Het
Ibtk T A 9: 85,590,234 (GRCm39) probably benign Het
Il6ra A T 3: 89,785,149 (GRCm39) probably null Het
Iqgap3 C T 3: 87,998,032 (GRCm39) probably benign Het
Kcnk2 A C 1: 189,071,998 (GRCm39) L110R probably damaging Het
Knl1 T A 2: 118,927,916 (GRCm39) V1919D possibly damaging Het
Lrp1b A T 2: 40,779,251 (GRCm39) L2597Q probably benign Het
Magi3 A G 3: 103,923,358 (GRCm39) S1120P probably benign Het
Map3k8 T C 18: 4,349,162 (GRCm39) D52G probably benign Het
Mnd1 A G 3: 84,012,286 (GRCm39) V141A probably benign Het
Morc1 T C 16: 48,407,485 (GRCm39) L667P probably benign Het
Mrps6 A G 16: 91,908,808 (GRCm39) K125E possibly damaging Het
Mst1 T C 9: 107,959,500 (GRCm39) F262S probably damaging Het
Or5j3 T G 2: 86,128,941 (GRCm39) I260M probably damaging Het
Or7e178 T A 9: 20,225,875 (GRCm39) I114F probably damaging Het
Pbsn C G X: 76,897,046 (GRCm39) G15A possibly damaging Het
Pcnx1 T C 12: 82,038,804 (GRCm39) I2023T probably benign Het
Pds5a T G 5: 65,813,744 (GRCm39) N247T probably damaging Het
Peak1 T C 9: 56,167,373 (GRCm39) Y185C probably damaging Het
Phkb T A 8: 86,744,031 (GRCm39) I560N probably damaging Het
Plekhn1 T C 4: 156,309,658 (GRCm39) I160V probably damaging Het
Rabgap1 T G 2: 37,379,729 (GRCm39) probably benign Het
Rdh10 T G 1: 16,199,517 (GRCm39) V241G probably damaging Het
Selenow A T 7: 15,654,042 (GRCm39) C37S probably benign Het
Sema6a A T 18: 47,403,872 (GRCm39) probably null Het
Slc12a3 T C 8: 95,057,153 (GRCm39) probably null Het
Slc22a21 T G 11: 53,842,636 (GRCm39) M498L probably benign Het
Spink5 A T 18: 44,122,486 (GRCm39) N317I probably damaging Het
Srek1 A G 13: 103,885,370 (GRCm39) probably benign Het
Syt11 A G 3: 88,655,230 (GRCm39) V357A probably benign Het
Tcof1 T A 18: 60,962,107 (GRCm39) K707N possibly damaging Het
Tfip11 C T 5: 112,475,960 (GRCm39) R42C probably damaging Het
Trim39 T C 17: 36,574,623 (GRCm39) K260E probably benign Het
Ttn T C 2: 76,553,663 (GRCm39) T22658A possibly damaging Het
Unc45b C T 11: 82,827,638 (GRCm39) probably benign Het
Vmn1r236 A G 17: 21,507,172 (GRCm39) I97V probably benign Het
Vps13c T C 9: 67,881,001 (GRCm39) V657A probably damaging Het
Zkscan2 A G 7: 123,097,898 (GRCm39) V166A probably benign Het
Other mutations in Mcat
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1497:Mcat UTSW 15 83,433,453 (GRCm39) nonsense probably null
R5518:Mcat UTSW 15 83,431,875 (GRCm39) splice site probably null
R5909:Mcat UTSW 15 83,432,116 (GRCm39) missense probably benign 0.20
R6508:Mcat UTSW 15 83,433,452 (GRCm39) missense probably benign
R6582:Mcat UTSW 15 83,433,383 (GRCm39) missense probably benign 0.00
R6964:Mcat UTSW 15 83,432,132 (GRCm39) unclassified probably benign
R7599:Mcat UTSW 15 83,431,872 (GRCm39) missense probably damaging 1.00
R7814:Mcat UTSW 15 83,432,110 (GRCm39) missense probably damaging 0.97
R8306:Mcat UTSW 15 83,439,592 (GRCm39) missense probably damaging 0.99
R8825:Mcat UTSW 15 83,436,812 (GRCm39) missense probably benign 0.00
R9064:Mcat UTSW 15 83,432,134 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCAATATCCTGGCTTCTGCTTC -3'
(R):5'- CCCTGAATGACAGCTTACCTTCCAC -3'

Sequencing Primer
(F):5'- GTTCTCCAGATGATACTCAGCAAG -3'
(R):5'- CACTTCACAGTTAGATTTCCAAACG -3'
Posted On 2013-06-11