Incidental Mutation 'R6964:Mcat'
ID 541909
Institutional Source Beutler Lab
Gene Symbol Mcat
Ensembl Gene ENSMUSG00000048755
Gene Name malonyl CoA:ACP acyltransferase (mitochondrial)
Synonyms
MMRRC Submission 045074-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.493) question?
Stock # R6964 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 83430998-83439936 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 83432132 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016902] [ENSMUST00000061882] [ENSMUST00000229165] [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 silent
Transcript: ENSMUST00000061882
SMART Domains Protein: ENSMUSP00000051569
Gene: ENSMUSG00000048755

DomainStartEndE-ValueType
low complexity region 2 24 N/A INTRINSIC
Pfam:Acyl_transf_1 62 342 5.8e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229165
Predicted Effect silent
Transcript: ENSMUST00000229724
Predicted Effect probably benign
Transcript: ENSMUST00000229964
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000230912
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
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 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
A630089N07Rik A T 16: 97,866,959 (GRCm39) Y334* probably null Het
Abcc2 A C 19: 43,786,515 (GRCm39) I116L probably benign Het
Adamts17 T A 7: 66,559,148 (GRCm39) Y313N possibly damaging Het
Adamts17 A G 7: 66,654,101 (GRCm39) T444A probably benign Het
Adamtsl1 A G 4: 86,075,091 (GRCm39) I153V probably damaging Het
Ambra1 C T 2: 91,747,761 (GRCm39) Q1046* probably null Het
Ap1g2 A T 14: 55,336,722 (GRCm39) V750D possibly damaging Het
Bcl7a T C 5: 123,507,519 (GRCm39) probably null Het
C4bp A T 1: 130,585,009 (GRCm39) L9Q probably damaging Het
Cadps2 A C 6: 23,583,458 (GRCm39) V344G probably damaging Het
Car7 A G 8: 105,270,213 (GRCm39) D15G possibly damaging Het
Cep126 G C 9: 8,112,101 (GRCm39) H157Q probably null Het
Chst11 C T 10: 83,027,215 (GRCm39) T214I probably damaging Het
Cntrob G A 11: 69,200,317 (GRCm39) R526* probably null Het
Cul1 A G 6: 47,493,443 (GRCm39) T445A probably benign Het
Dclre1c T C 2: 3,454,206 (GRCm39) V363A possibly damaging Het
Dock10 T A 1: 80,481,365 (GRCm39) probably benign Het
Donson A G 16: 91,478,107 (GRCm39) Y465H probably benign Het
Eif3e G A 15: 43,135,685 (GRCm39) A118V probably benign Het
Fam47e A T 5: 92,713,911 (GRCm39) Q180L probably damaging Het
Fat1 T G 8: 45,496,982 (GRCm39) C4156G probably damaging Het
Fermt2 A T 14: 45,702,599 (GRCm39) I441K probably damaging Het
Frmd4b C T 6: 97,282,158 (GRCm39) R510Q probably damaging Het
Fscn1 C T 5: 142,946,415 (GRCm39) A71V probably damaging Het
Gfap G A 11: 102,787,783 (GRCm39) A54V possibly damaging Het
Gjc3 C T 5: 137,955,759 (GRCm39) M175I probably benign Het
Gm10645 C T 8: 83,892,581 (GRCm39) probably benign Het
Haus5 G A 7: 30,357,040 (GRCm39) P464S probably benign Het
Helz2 T A 2: 180,872,221 (GRCm39) I2584F probably damaging Het
Mak T A 13: 41,186,067 (GRCm39) I534L probably benign Het
Map3k9 T C 12: 81,819,777 (GRCm39) D159G probably benign Het
Meltf A G 16: 31,698,980 (GRCm39) D30G probably benign Het
Ntng2 T A 2: 29,087,041 (GRCm39) Y452F probably benign Het
Or10ag60 T C 2: 87,437,957 (GRCm39) L75P probably damaging Het
Or4a72 T A 2: 89,405,333 (GRCm39) I246F probably benign Het
Or5b118 T A 19: 13,448,725 (GRCm39) Y130* probably null Het
Or5p53 A T 7: 107,532,966 (GRCm39) I80L probably benign Het
Paip1 C T 13: 119,587,306 (GRCm39) T390I possibly damaging Het
Pianp T A 6: 124,976,353 (GRCm39) V54D possibly damaging Het
Ptprn T C 1: 75,237,293 (GRCm39) D103G possibly damaging Het
Rhcg A G 7: 79,250,279 (GRCm39) V268A probably benign Het
Rhoj T A 12: 75,422,163 (GRCm39) Y74N probably damaging Het
Rigi A G 4: 40,225,697 (GRCm39) S235P probably benign Het
Snx13 A C 12: 35,169,788 (GRCm39) T578P possibly damaging Het
Star T A 8: 26,301,851 (GRCm39) H227Q probably benign Het
Stau2 A C 1: 16,460,229 (GRCm39) M204R probably damaging Het
Steap4 A G 5: 8,025,568 (GRCm39) Y43C probably damaging Het
Syt8 A G 7: 141,993,158 (GRCm39) E21G probably benign Het
Tacr3 T C 3: 134,535,500 (GRCm39) V156A probably damaging Het
Tmem106b C T 6: 13,082,422 (GRCm39) T199M probably benign Het
Tmem131 T C 1: 36,835,373 (GRCm39) T1583A probably damaging Het
Tom1 G A 8: 75,778,593 (GRCm39) V87I probably null Het
Treml4 G T 17: 48,579,847 (GRCm39) probably null Het
Ttn T C 2: 76,544,457 (GRCm39) K32843R probably damaging Het
Wdr95 T G 5: 149,505,315 (GRCm39) C223W probably damaging Het
Wipi1 C T 11: 109,494,590 (GRCm39) R81Q probably benign Het
Zc3h7a G A 16: 10,967,088 (GRCm39) T568I probably benign Het
Zfp287 A T 11: 62,615,643 (GRCm39) I228N probably damaging Het
Zfp606 T A 7: 12,223,519 (GRCm39) V10E probably damaging Het
Other mutations in Mcat
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0569:Mcat UTSW 15 83,433,449 (GRCm39) missense probably benign 0.00
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
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'- CCCACTGACATTGGAATGGAC -3'
(R):5'- AAGCATTTGCCACTGAAGCC -3'

Sequencing Primer
(F):5'- CATTGGAATGGACGGCAACC -3'
(R):5'- CTACATAGTGAGTTCAAGGCCAGC -3'
Posted On 2018-11-28