Incidental Mutation 'IGL02996:Mccc2'
ID407153
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 #IGL02996
Quality Score
Status
Chromosome13
Chromosomal Location99948530-100015639 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to A at 99960979 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022148] [ENSMUST00000222083]
Predicted Effect probably benign
Transcript: ENSMUST00000022148
SMART Domains Protein: ENSMUSP00000022148
Gene: ENSMUSG00000021646

DomainStartEndE-ValueType
Pfam:Carboxyl_trans 74 558 1.4e-155 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221034
Predicted Effect probably benign
Transcript: ENSMUST00000222083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223013
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
B4galnt1 C T 10: 127,167,003 R130W probably damaging Het
Cd200r3 T C 16: 44,954,317 L231P probably damaging Het
Cd200r4 C A 16: 44,833,033 N55K probably benign Het
Cyb561d1 C T 3: 108,199,645 R86Q probably damaging Het
Dst T C 1: 34,188,398 S1869P possibly damaging Het
Dusp6 T C 10: 99,264,766 V208A possibly damaging Het
Dync2h1 A T 9: 6,935,279 V4248E probably damaging Het
Exoc6b T A 6: 84,908,213 D248V probably benign Het
Fat4 A C 3: 38,958,525 D2323A probably damaging Het
Fbxo6 T C 4: 148,146,891 Y144C probably damaging Het
Gm7334 C A 17: 50,699,056 N123K possibly damaging Het
Large2 T C 2: 92,365,928 H518R possibly damaging Het
March4 G A 1: 72,428,899 Q325* probably null Het
Mical3 T C 6: 120,958,558 D1669G probably damaging Het
Mkrn2 T C 6: 115,611,907 F204L probably benign Het
Olfr59 T C 11: 74,289,165 V173A probably benign Het
Olfr943 A G 9: 39,185,065 R293G probably damaging Het
Pkn3 A G 2: 30,080,615 D148G probably benign Het
Ppef2 C T 5: 92,235,900 W450* probably null Het
Rwdd1 G T 10: 34,002,516 Q108K probably damaging Het
Senp3 T C 11: 69,674,260 E496G probably damaging Het
St6gal1 T A 16: 23,321,154 V25E probably damaging Het
Syt4 T C 18: 31,444,146 K52E probably damaging Het
Tap1 C A 17: 34,191,396 A349E probably damaging Het
Tfr2 T A 5: 137,583,466 M605K probably benign Het
Tmem192 A G 8: 64,968,790 probably null Het
Trf T C 9: 103,220,903 E52G probably benign Het
Ttn A G 2: 76,726,187 V30158A probably damaging Het
Unc5a A G 13: 54,996,178 E152G probably damaging Het
Vmn2r57 T A 7: 41,399,741 K861N probably benign Het
Other mutations in Mccc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02073:Mccc2 APN 13 100000275 missense probably benign
IGL02302:Mccc2 APN 13 99954239 missense probably damaging 1.00
IGL02407:Mccc2 APN 13 99991308 missense probably damaging 0.99
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
Posted On2016-08-02