Incidental Mutation 'IGL01878:Mccc1'
ID178952
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mccc1
Ensembl Gene ENSMUSG00000027709
Gene Namemethylcrotonoyl-Coenzyme A carboxylase 1 (alpha)
Synonyms2310058B18Rik, MCCA, MCCalpha, 1810045E08Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01878
Quality Score
Status
Chromosome3
Chromosomal Location35959312-36000678 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 35975892 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 423 (S423L)
Ref Sequence ENSEMBL: ENSMUSP00000029259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029259] [ENSMUST00000199113] [ENSMUST00000200163]
Predicted Effect probably damaging
Transcript: ENSMUST00000029259
AA Change: S423L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029259
Gene: ENSMUSG00000027709
AA Change: S423L

DomainStartEndE-ValueType
low complexity region 2 9 N/A INTRINSIC
Pfam:CPSase_L_chain 44 153 4.7e-50 PFAM
Pfam:ATP-grasp_4 156 337 3.7e-20 PFAM
Pfam:RimK 158 358 1e-6 PFAM
Pfam:CPSase_L_D2 159 367 2.8e-79 PFAM
Pfam:ATP-grasp_3 160 339 8.1e-9 PFAM
Pfam:Dala_Dala_lig_C 165 335 1.2e-16 PFAM
Pfam:ATP-grasp 166 337 3.7e-13 PFAM
Biotin_carb_C 379 486 7.14e-48 SMART
Pfam:Biotin_lipoyl 644 710 1.1e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196662
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198515
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198634
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199006
Predicted Effect probably benign
Transcript: ENSMUST00000199113
SMART Domains Protein: ENSMUSP00000143266
Gene: ENSMUSG00000027709

DomainStartEndE-ValueType
low complexity region 2 9 N/A INTRINSIC
Pfam:CPSase_L_chain 44 153 3.5e-48 PFAM
Pfam:ATP-grasp_4 156 253 4.1e-10 PFAM
Pfam:CPSase_L_D2 159 253 1.2e-24 PFAM
Pfam:Dala_Dala_lig_C 165 254 1.6e-8 PFAM
Pfam:ATP-grasp 166 253 8.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200163
SMART Domains Protein: ENSMUSP00000143039
Gene: ENSMUSG00000027709

DomainStartEndE-ValueType
Pfam:Dala_Dala_lig_C 1 115 3.8e-8 PFAM
Pfam:ATP-grasp_4 1 117 1.5e-9 PFAM
Pfam:CPSase_L_D2 1 147 3.9e-59 PFAM
Pfam:Biotin_carb_C 159 200 1.5e-9 PFAM
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 large 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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox8 G T 11: 69,197,038 Q147K probably benign Het
Ankib1 T A 5: 3,734,152 M275L possibly damaging Het
Asb2 G A 12: 103,321,663 P546S possibly damaging Het
B9d1 T C 11: 61,507,623 probably benign Het
Col12a1 T C 9: 79,649,975 D1957G possibly damaging Het
Cryzl2 T C 1: 157,472,400 V44A possibly damaging Het
Fbxw19 A C 9: 109,483,279 probably benign Het
Gabrb3 T C 7: 57,816,415 F326L probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm11168 T C 9: 3,005,204 C16R probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm7808 T A 9: 19,928,246 probably benign Het
Gpam T C 19: 55,083,374 I312V probably benign Het
H2-M10.5 A G 17: 36,773,816 Y144C probably damaging Het
Hivep3 T C 4: 120,095,227 S247P possibly damaging Het
Hs3st4 T G 7: 124,397,313 C401G probably damaging Het
Klhl2 A G 8: 64,759,824 V227A probably damaging Het
Lct T C 1: 128,294,266 N1512S probably damaging Het
Lipm T A 19: 34,116,511 L276Q possibly damaging Het
Lmf2 T A 15: 89,352,418 H515L probably damaging Het
Mettl21e G A 1: 44,211,033 S71L probably null Het
Muc16 T A 9: 18,495,543 H251L possibly damaging Het
Neb T C 2: 52,169,840 probably benign Het
Ntf5 T C 7: 45,416,026 I194T probably damaging Het
Olfr1124 T C 2: 87,434,970 I161T possibly damaging Het
Olfr1154 A T 2: 87,903,331 L115* probably null Het
Olfr1265 T C 2: 90,037,134 S72P probably damaging Het
Olfr1361 T C 13: 21,658,783 D180G possibly damaging Het
Olfr99 A G 17: 37,280,000 V140A possibly damaging Het
Pigv T C 4: 133,665,117 I247M probably benign Het
Pik3r5 A G 11: 68,492,530 N392D probably benign Het
Postn A G 3: 54,383,480 probably null Het
Prl2c5 G A 13: 13,185,817 S23N probably benign Het
Prpf40b T C 15: 99,306,532 C220R possibly damaging Het
Pzp A G 6: 128,495,298 S843P probably damaging Het
Rpl23 C A 11: 97,778,351 R85L probably benign Het
Shcbp1 A G 8: 4,749,721 S252P probably damaging Het
Slc26a7 C T 4: 14,519,388 probably null Het
Sptbn4 T C 7: 27,364,146 E2285G probably damaging Het
Telo2 G T 17: 25,101,358 T784K probably benign Het
Tnfrsf19 C T 14: 60,996,644 V136M probably damaging Het
Trpm5 T A 7: 143,074,497 I22F probably damaging Het
Trpv6 G T 6: 41,626,867 probably benign Het
Vmn1r173 T G 7: 23,702,452 H37Q probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Xpo6 T A 7: 126,174,193 H20L probably benign Het
Zfp462 T C 4: 55,010,613 Y860H probably damaging Het
Other mutations in Mccc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01483:Mccc1 APN 3 35989860 missense probably damaging 0.99
IGL01601:Mccc1 APN 3 35989952 missense probably benign 0.00
IGL01671:Mccc1 APN 3 35964460 missense probably benign
IGL01784:Mccc1 APN 3 35976748 missense probably damaging 0.99
IGL02088:Mccc1 APN 3 35974202 missense probably damaging 1.00
IGL02709:Mccc1 APN 3 35990739 makesense probably null
IGL02932:Mccc1 APN 3 35960029 missense possibly damaging 0.86
IGL02972:Mccc1 APN 3 35985089 missense possibly damaging 0.58
IGL03145:Mccc1 APN 3 35968446 missense probably benign
P0019:Mccc1 UTSW 3 35964395 missense probably benign 0.00
R0244:Mccc1 UTSW 3 35990047 critical splice donor site probably null
R0391:Mccc1 UTSW 3 35963570 splice site probably benign
R1466:Mccc1 UTSW 3 35974286 missense probably benign 0.01
R1466:Mccc1 UTSW 3 35974286 missense probably benign 0.01
R1591:Mccc1 UTSW 3 35989857 missense probably damaging 1.00
R1663:Mccc1 UTSW 3 35978933 missense probably damaging 1.00
R1827:Mccc1 UTSW 3 35985001 missense probably damaging 1.00
R3800:Mccc1 UTSW 3 36000509 missense probably damaging 1.00
R4290:Mccc1 UTSW 3 35990068 missense probably damaging 0.98
R4291:Mccc1 UTSW 3 35990068 missense probably damaging 0.98
R4707:Mccc1 UTSW 3 35975873 missense probably damaging 0.99
R4757:Mccc1 UTSW 3 35995917 missense probably benign 0.32
R4783:Mccc1 UTSW 3 35975873 missense probably damaging 0.99
R4785:Mccc1 UTSW 3 35975873 missense probably damaging 0.99
R4798:Mccc1 UTSW 3 35985001 missense probably damaging 0.99
R4807:Mccc1 UTSW 3 35985046 missense probably damaging 1.00
R4915:Mccc1 UTSW 3 35997554 missense probably benign 0.00
R4917:Mccc1 UTSW 3 35997554 missense probably benign 0.00
R5010:Mccc1 UTSW 3 35979017 missense probably benign 0.15
R5106:Mccc1 UTSW 3 35972564 missense probably benign 0.22
R5168:Mccc1 UTSW 3 35990780 nonsense probably null
R5241:Mccc1 UTSW 3 35974196 missense probably benign 0.03
R5444:Mccc1 UTSW 3 35976742 missense probably benign 0.00
R5677:Mccc1 UTSW 3 35990048 critical splice donor site probably null
R5838:Mccc1 UTSW 3 35985082 missense possibly damaging 0.88
R5881:Mccc1 UTSW 3 35964382 missense probably benign 0.00
R6248:Mccc1 UTSW 3 35990164 missense probably damaging 1.00
R6381:Mccc1 UTSW 3 35976727 missense probably benign 0.13
R6564:Mccc1 UTSW 3 35976676 missense probably damaging 1.00
R6612:Mccc1 UTSW 3 35993930 missense probably benign 0.01
R6769:Mccc1 UTSW 3 35989843 critical splice donor site probably null
R6771:Mccc1 UTSW 3 35989843 critical splice donor site probably null
R7135:Mccc1 UTSW 3 35995818 missense probably damaging 1.00
R7236:Mccc1 UTSW 3 35983795 missense probably benign 0.13
R7274:Mccc1 UTSW 3 35989856 missense probably damaging 1.00
R7577:Mccc1 UTSW 3 35975794 critical splice donor site probably null
R7689:Mccc1 UTSW 3 35960983 nonsense probably null
Posted On2014-05-07