Incidental Mutation 'IGL02073:Mccc2'
ID185912
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mccc2
Ensembl Gene ENSMUSG00000021646
Gene Namemethylcrotonoyl-Coenzyme A carboxylase 2 (beta)
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.373) question?
Stock #IGL02073
Quality Score
Status
Chromosome13
Chromosomal Location99948530-100015639 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 100000275 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 57 (H57Q)
Ref Sequence ENSEMBL: ENSMUSP00000022148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022148] [ENSMUST00000221344]
Predicted Effect probably benign
Transcript: ENSMUST00000022148
AA Change: H57Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022148
Gene: ENSMUSG00000021646
AA Change: H57Q

DomainStartEndE-ValueType
Pfam:Carboxyl_trans 74 558 1.4e-155 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221846
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 the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930566N20Rik C A 3: 157,208,402 probably benign Het
6330409D20Rik T G 2: 32,740,686 probably benign Het
Als2cl A G 9: 110,894,339 K659E probably benign Het
Bbx G A 16: 50,202,491 T702I probably damaging Het
Bcas3 A G 11: 85,557,437 D405G probably damaging Het
Brpf3 A G 17: 28,807,396 Y481C probably benign Het
Csnk1g1 T A 9: 66,002,251 Y217N probably damaging Het
Cyp4f37 G T 17: 32,627,851 V171L possibly damaging Het
Dock8 G A 19: 25,200,986 probably null Het
Extl3 C A 14: 65,076,339 G465W probably damaging Het
Fam208b T C 13: 3,574,721 D1743G probably benign Het
Fbxo10 A G 4: 45,046,349 I587T possibly damaging Het
Fstl5 A C 3: 76,659,652 probably benign Het
Gabbr2 T C 4: 46,667,547 N866S probably benign Het
Gm4871 T A 5: 145,032,578 K44* probably null Het
Hnrnpul1 T C 7: 25,722,341 probably benign Het
Jup A G 11: 100,383,389 probably benign Het
Myo1a A T 10: 127,710,225 D239V probably damaging Het
Ncapd3 T A 9: 27,063,316 S695T probably benign Het
Ncor1 A T 11: 62,358,917 S1052T probably damaging Het
Olfr175-ps1 A G 16: 58,823,806 I301T probably benign Het
Olfr250 C T 9: 38,368,307 H244Y probably damaging Het
Olfr834 T A 9: 18,988,325 N112K possibly damaging Het
Pcnx3 A T 19: 5,679,386 I526K probably damaging Het
Pcnx4 A G 12: 72,574,328 D974G possibly damaging Het
Peg3 T C 7: 6,711,002 E407G probably damaging Het
Polk A G 13: 96,504,551 V166A probably damaging Het
Prkar2a A G 9: 108,733,123 I184V probably damaging Het
Ptpa T C 2: 30,443,350 S64P probably damaging Het
Rbsn A G 6: 92,189,359 L768P probably damaging Het
Ripk3 C T 14: 55,786,025 probably null Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sar1b T C 11: 51,789,193 probably benign Het
Slx A T X: 26,534,455 W89R probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Svep1 T C 4: 58,070,104 I2561V probably benign Het
Tm7sf3 A G 6: 146,623,710 L79P possibly damaging Het
Trub1 A T 19: 57,452,947 M1L probably benign Het
Unc80 A G 1: 66,612,227 D1577G possibly damaging Het
Vat1 A T 11: 101,460,579 M312K possibly damaging Het
Vmn1r17 T C 6: 57,360,802 I193V probably benign Het
Vps13b A G 15: 35,875,586 I2706V possibly damaging Het
Wls T C 3: 159,907,253 probably null Het
Zfp955b A G 17: 33,300,590 T11A possibly damaging Het
Other mutations in Mccc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02302:Mccc2 APN 13 99954239 missense probably damaging 1.00
IGL02407:Mccc2 APN 13 99991308 missense probably damaging 0.99
IGL02996:Mccc2 APN 13 99960979 splice site probably benign
IGL03068:Mccc2 APN 13 99963811 missense probably damaging 0.98
R0212:Mccc2 UTSW 13 99954655 missense probably benign 0.14
R1915:Mccc2 UTSW 13 99948530 splice site probably null
R3892:Mccc2 UTSW 13 99967733 missense probably benign
R4823:Mccc2 UTSW 13 100000254 missense probably benign 0.00
R6306:Mccc2 UTSW 13 99993577 missense probably benign
R6441:Mccc2 UTSW 13 99954676 missense probably damaging 1.00
R6914:Mccc2 UTSW 13 99990350 missense probably damaging 1.00
R6952:Mccc2 UTSW 13 99967726 missense probably benign 0.01
R7290:Mccc2 UTSW 13 99954699 missense probably damaging 0.99
R7307:Mccc2 UTSW 13 99988600 missense possibly damaging 0.95
R7319:Mccc2 UTSW 13 99967733 missense probably benign
Posted On2014-05-07