Incidental Mutation 'R5241:Mccc1'
ID 400804
Institutional Source Beutler Lab
Gene Symbol Mccc1
Ensembl Gene ENSMUSG00000027709
Gene Name methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)
Synonyms 1810045E08Rik, MCCA, MCCalpha, 2310058B18Rik
MMRRC Submission 042812-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5241 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 36013461-36054827 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36028345 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 487 (Q487L)
Ref Sequence ENSEMBL: ENSMUSP00000029259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029259] [ENSMUST00000200163] [ENSMUST00000199113]
AlphaFold Q99MR8
Predicted Effect probably benign
Transcript: ENSMUST00000029259
AA Change: Q487L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000029259
Gene: ENSMUSG00000027709
AA Change: Q487L

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: 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
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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 91.8%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930033H14Rik A G 10: 69,048,581 (GRCm39) probably null Het
Adgrb3 T C 1: 25,150,871 (GRCm39) T881A possibly damaging Het
Adgrv1 A T 13: 81,637,048 (GRCm39) C3464* probably null Het
Afp A G 5: 90,649,473 (GRCm39) M347V probably benign Het
Apc2 A G 10: 80,148,068 (GRCm39) T1041A probably benign Het
Atl1 T C 12: 70,005,887 (GRCm39) S398P possibly damaging Het
Atp8b4 G A 2: 126,225,646 (GRCm39) P528L probably benign Het
Bahcc1 C A 11: 120,162,229 (GRCm39) P176T probably damaging Het
Bsnd A G 4: 106,345,182 (GRCm39) V88A probably benign Het
Dnah7c T A 1: 46,569,660 (GRCm39) F687Y probably benign Het
Dok6 T C 18: 89,616,913 (GRCm39) I23M possibly damaging Het
Fcgbp A T 7: 27,784,624 (GRCm39) D228V probably damaging Het
Gatad2a G A 8: 70,370,667 (GRCm39) Q107* probably null Het
Glis3 G T 19: 28,327,423 (GRCm39) T663K probably benign Het
Gm10784 T A 13: 50,099,129 (GRCm39) noncoding transcript Het
Gsdmc2 C T 15: 63,696,743 (GRCm39) R476H probably benign Het
Gsdmc3 A G 15: 63,735,995 (GRCm39) S202P possibly damaging Het
Map3k8 T C 18: 4,340,750 (GRCm39) E188G probably damaging Het
Msantd1 A G 5: 35,078,813 (GRCm39) D116G probably damaging Het
Myh1 T A 11: 67,095,275 (GRCm39) S212T probably benign Het
Nr1h4 A G 10: 89,319,351 (GRCm39) Y158H probably damaging Het
Or4p19 T C 2: 88,242,442 (GRCm39) T187A possibly damaging Het
Or51f1e T C 7: 102,747,524 (GRCm39) V192A probably benign Het
Or6k8-ps1 T A 1: 173,979,667 (GRCm39) I195N probably benign Het
Pcnt A T 10: 76,269,451 (GRCm39) H272Q probably benign Het
Pdia5 T C 16: 35,250,145 (GRCm39) N242S probably benign Het
Pkd1l2 A T 8: 117,761,857 (GRCm39) D1441E probably damaging Het
Runx2 G T 17: 44,950,664 (GRCm39) Y203* probably null Het
Sdr9c7 T G 10: 127,745,659 (GRCm39) I257S probably benign Het
Slitrk1 A G 14: 109,150,444 (GRCm39) M89T probably benign Het
St14 G T 9: 31,011,714 (GRCm39) C397* probably null Het
Tas2r123 T C 6: 132,824,181 (GRCm39) I26T probably benign Het
Tmem144 A T 3: 79,721,431 (GRCm39) M329K probably benign Het
Tmem252 T C 19: 24,651,491 (GRCm39) M20T probably benign Het
Umodl1 T C 17: 31,203,066 (GRCm39) V473A probably benign Het
Wdr70 A G 15: 8,108,700 (GRCm39) C149R probably benign Het
Xirp2 C T 2: 67,312,704 (GRCm39) R58* probably null Het
Zer1 A C 2: 29,994,982 (GRCm39) L471R probably damaging Het
Zfp101 C T 17: 33,601,210 (GRCm39) C182Y probably benign 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
IGL02709:Mccc1 APN 3 36,044,888 (GRCm39) makesense probably null
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
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
Predicted Primers PCR Primer
(F):5'- ACAGAAACAGAAGCGCGTTTC -3'
(R):5'- ATGATCGATCGCCTTTCTGC -3'

Sequencing Primer
(F):5'- CGTTTCTTGCTGAGTCAGAGAACAC -3'
(R):5'- TCTGCACGTGACACCTTGGTAG -3'
Posted On 2016-07-06