Incidental Mutation 'IGL02709:Mccc1'
ID 304499
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mccc1
Ensembl Gene ENSMUSG00000027709
Gene Name methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)
Synonyms 1810045E08Rik, MCCA, MCCalpha, 2310058B18Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02709
Quality Score
Status
Chromosome 3
Chromosomal Location 36013461-36054827 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to T at 36044888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Lysine at position 85 (*85K)
Ref Sequence ENSEMBL: ENSMUSP00000143396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029259] [ENSMUST00000199113] [ENSMUST00000200162] [ENSMUST00000200163]
AlphaFold Q99MR8
Predicted Effect probably damaging
Transcript: ENSMUST00000029259
AA Change: I146K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029259
Gene: ENSMUSG00000027709
AA Change: I146K

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: ENSMUST00000198515
Predicted Effect probably damaging
Transcript: ENSMUST00000199113
AA Change: I146K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143266
Gene: ENSMUSG00000027709
AA Change: I146K

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 null
Transcript: ENSMUST00000200162
AA Change: *85K
SMART Domains Protein: ENSMUSP00000143396
Gene: ENSMUSG00000027709
AA Change: *85K

DomainStartEndE-ValueType
low complexity region 2 9 N/A INTRINSIC
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,654,619 (GRCm39) Y151C probably damaging Het
Aco1 G A 4: 40,180,199 (GRCm39) V367M possibly damaging Het
Acsm5 G A 7: 119,134,041 (GRCm39) W274* probably null Het
Ago1 G A 4: 126,347,433 (GRCm39) Q135* probably null Het
Bmpr1b A T 3: 141,562,314 (GRCm39) L291Q probably damaging Het
Cdcp1 A G 9: 123,002,879 (GRCm39) Y731H probably damaging Het
Clrn2 A G 5: 45,617,495 (GRCm39) N122S probably damaging Het
Col4a3 G T 1: 82,656,833 (GRCm39) G751W unknown Het
Ctsc C T 7: 87,957,347 (GRCm39) A294V probably damaging Het
Cyp26a1 T C 19: 37,688,426 (GRCm39) L316P probably damaging Het
Dennd6b A T 15: 89,075,125 (GRCm39) probably benign Het
Dnah10 T A 5: 124,850,809 (GRCm39) Y1659* probably null Het
Dspp A C 5: 104,325,116 (GRCm39) D493A unknown Het
Dyrk1a C T 16: 94,486,102 (GRCm39) A445V probably benign Het
E030025P04Rik C A 11: 109,030,324 (GRCm39) probably benign Het
Ecpas A G 4: 58,872,699 (GRCm39) S201P possibly damaging Het
Foxd4 T C 19: 24,876,973 (GRCm39) H409R probably damaging Het
Fubp3 A G 2: 31,485,343 (GRCm39) probably benign Het
Herc1 A G 9: 66,404,962 (GRCm39) K4511E probably damaging Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Map1lc3b T A 8: 122,322,768 (GRCm39) L82Q probably damaging Het
Mcc A T 18: 44,578,877 (GRCm39) S844T possibly damaging Het
Memo1 G A 17: 74,552,027 (GRCm39) L90F probably damaging Het
Mfrp A G 9: 44,014,561 (GRCm39) H236R probably benign Het
Mmrn1 G A 6: 60,950,030 (GRCm39) D327N probably damaging Het
Mycbp2 T C 14: 103,392,697 (GRCm39) E3178G probably damaging Het
Pcsk9 A G 4: 106,304,886 (GRCm39) probably benign Het
Pros1 T C 16: 62,719,308 (GRCm39) L110P probably damaging Het
Reck A G 4: 43,913,791 (GRCm39) Y215C probably damaging Het
Ripk4 T C 16: 97,544,766 (GRCm39) D627G probably damaging Het
Rnf144a G T 12: 26,371,009 (GRCm39) H151N probably damaging Het
Slc39a9 T A 12: 80,713,421 (GRCm39) H106Q probably damaging Het
Stab2 A G 10: 86,682,029 (GRCm39) probably benign Het
Sympk T G 7: 18,781,463 (GRCm39) H806Q probably benign Het
Tars2 C A 3: 95,649,383 (GRCm39) probably benign Het
Thap3 T A 4: 152,070,169 (GRCm39) H75L probably damaging Het
Trappc8 T C 18: 20,970,235 (GRCm39) I918M possibly damaging Het
Ube2j2 T C 4: 156,041,788 (GRCm39) V249A probably damaging Het
Ubqln3 T G 7: 103,790,543 (GRCm39) T516P probably benign Het
Unc13c A G 9: 73,466,238 (GRCm39) S1810P probably benign Het
Vmn1r4 T A 6: 56,933,524 (GRCm39) Y9* probably null Het
Vmn1r89 T A 7: 12,954,131 (GRCm39) M221K probably damaging Het
Vmn2r1 G T 3: 64,012,355 (GRCm39) V739F probably benign Het
Vmn2r25 C T 6: 123,816,723 (GRCm39) R286Q possibly damaging Het
Vmn2r91 T A 17: 18,325,711 (GRCm39) Y110N possibly damaging Het
Zbtb48 T C 4: 152,105,851 (GRCm39) H418R probably damaging Het
Other mutations in Mccc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01483:Mccc1 APN 3 36,044,009 (GRCm39) missense probably damaging 0.99
IGL01601:Mccc1 APN 3 36,044,101 (GRCm39) missense probably benign 0.00
IGL01671:Mccc1 APN 3 36,018,609 (GRCm39) missense probably benign
IGL01784:Mccc1 APN 3 36,030,897 (GRCm39) missense probably damaging 0.99
IGL01878:Mccc1 APN 3 36,030,041 (GRCm39) missense probably damaging 1.00
IGL02088:Mccc1 APN 3 36,028,351 (GRCm39) missense probably damaging 1.00
IGL02932:Mccc1 APN 3 36,014,178 (GRCm39) missense possibly damaging 0.86
IGL02972:Mccc1 APN 3 36,039,238 (GRCm39) missense possibly damaging 0.58
IGL03145:Mccc1 APN 3 36,022,595 (GRCm39) missense probably benign
P0019:Mccc1 UTSW 3 36,018,544 (GRCm39) missense probably benign 0.00
R0244:Mccc1 UTSW 3 36,044,196 (GRCm39) critical splice donor site probably null
R0391:Mccc1 UTSW 3 36,017,719 (GRCm39) splice site probably benign
R1466:Mccc1 UTSW 3 36,028,435 (GRCm39) missense probably benign 0.01
R1466:Mccc1 UTSW 3 36,028,435 (GRCm39) missense probably benign 0.01
R1591:Mccc1 UTSW 3 36,044,006 (GRCm39) missense probably damaging 1.00
R1663:Mccc1 UTSW 3 36,033,082 (GRCm39) missense probably damaging 1.00
R1827:Mccc1 UTSW 3 36,039,150 (GRCm39) missense probably damaging 1.00
R3800:Mccc1 UTSW 3 36,054,658 (GRCm39) missense probably damaging 1.00
R4290:Mccc1 UTSW 3 36,044,217 (GRCm39) missense probably damaging 0.98
R4291:Mccc1 UTSW 3 36,044,217 (GRCm39) missense probably damaging 0.98
R4707:Mccc1 UTSW 3 36,030,022 (GRCm39) missense probably damaging 0.99
R4757:Mccc1 UTSW 3 36,050,066 (GRCm39) missense probably benign 0.32
R4783:Mccc1 UTSW 3 36,030,022 (GRCm39) missense probably damaging 0.99
R4785:Mccc1 UTSW 3 36,030,022 (GRCm39) missense probably damaging 0.99
R4798:Mccc1 UTSW 3 36,039,150 (GRCm39) missense probably damaging 0.99
R4807:Mccc1 UTSW 3 36,039,195 (GRCm39) missense probably damaging 1.00
R4915:Mccc1 UTSW 3 36,051,703 (GRCm39) missense probably benign 0.00
R4917:Mccc1 UTSW 3 36,051,703 (GRCm39) missense probably benign 0.00
R5010:Mccc1 UTSW 3 36,033,166 (GRCm39) missense probably benign 0.15
R5106:Mccc1 UTSW 3 36,026,713 (GRCm39) missense probably benign 0.22
R5168:Mccc1 UTSW 3 36,044,929 (GRCm39) nonsense probably null
R5241:Mccc1 UTSW 3 36,028,345 (GRCm39) missense probably benign 0.03
R5444:Mccc1 UTSW 3 36,030,891 (GRCm39) missense probably benign 0.00
R5677:Mccc1 UTSW 3 36,044,197 (GRCm39) critical splice donor site probably null
R5838:Mccc1 UTSW 3 36,039,231 (GRCm39) missense possibly damaging 0.88
R5881:Mccc1 UTSW 3 36,018,531 (GRCm39) missense probably benign 0.00
R6248:Mccc1 UTSW 3 36,044,313 (GRCm39) missense probably damaging 1.00
R6381:Mccc1 UTSW 3 36,030,876 (GRCm39) missense probably benign 0.13
R6564:Mccc1 UTSW 3 36,030,825 (GRCm39) missense probably damaging 1.00
R6612:Mccc1 UTSW 3 36,048,079 (GRCm39) missense probably benign 0.01
R6769:Mccc1 UTSW 3 36,043,992 (GRCm39) critical splice donor site probably null
R6771:Mccc1 UTSW 3 36,043,992 (GRCm39) critical splice donor site probably null
R7135:Mccc1 UTSW 3 36,049,967 (GRCm39) missense probably damaging 1.00
R7236:Mccc1 UTSW 3 36,037,944 (GRCm39) missense probably benign 0.13
R7274:Mccc1 UTSW 3 36,044,005 (GRCm39) missense probably damaging 1.00
R7577:Mccc1 UTSW 3 36,029,943 (GRCm39) critical splice donor site probably null
R7689:Mccc1 UTSW 3 36,015,132 (GRCm39) nonsense probably null
R8300:Mccc1 UTSW 3 36,017,753 (GRCm39) missense probably damaging 1.00
R8359:Mccc1 UTSW 3 36,018,493 (GRCm39) missense probably benign 0.00
R8701:Mccc1 UTSW 3 36,049,933 (GRCm39) missense probably benign
R9225:Mccc1 UTSW 3 36,018,511 (GRCm39) missense probably benign 0.00
R9331:Mccc1 UTSW 3 36,014,238 (GRCm39) missense probably damaging 0.98
R9407:Mccc1 UTSW 3 36,030,865 (GRCm39) missense possibly damaging 0.94
R9557:Mccc1 UTSW 3 36,049,976 (GRCm39) missense probably damaging 1.00
R9631:Mccc1 UTSW 3 36,014,185 (GRCm39) nonsense probably null
R9689:Mccc1 UTSW 3 36,030,903 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16