Incidental Mutation 'R0391:Mccc1'
ID 31665
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 038597-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0391 (G1)
Quality Score 216
Status Validated
Chromosome 3
Chromosomal Location 36013461-36054827 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 36017719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029259] [ENSMUST00000199113]
AlphaFold Q99MR8
Predicted Effect probably benign
Transcript: ENSMUST00000029259
SMART Domains Protein: ENSMUSP00000029259
Gene: ENSMUSG00000027709

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: ENSMUST00000199092
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 noncoding transcript
Transcript: ENSMUST00000200552
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.8%
Validation Efficiency 97% (97/100)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik T A 4: 122,594,970 (GRCm39) probably benign Het
Abcc2 G A 19: 43,810,044 (GRCm39) probably benign Het
Abcc8 C G 7: 45,771,597 (GRCm39) G838A probably damaging Het
Akr1c21 G A 13: 4,631,199 (GRCm39) A245T probably damaging Het
Anapc15-ps T C 10: 95,509,139 (GRCm39) E47G probably damaging Het
Apoa1 A G 9: 46,141,140 (GRCm39) T79A probably benign Het
Atp6v1b1 A G 6: 83,733,903 (GRCm39) H378R possibly damaging Het
C4b A G 17: 34,954,588 (GRCm39) probably benign Het
Catsperd A T 17: 56,969,821 (GRCm39) E638D probably benign Het
Cckar C T 5: 53,863,595 (GRCm39) probably null Het
Cfap100 C T 6: 90,382,321 (GRCm39) probably benign Het
Chd1 G T 17: 15,970,156 (GRCm39) G970C probably damaging Het
Col14a1 A G 15: 55,309,655 (GRCm39) probably benign Het
Col17a1 C T 19: 47,652,263 (GRCm39) V698M probably damaging Het
Cpeb1 T C 7: 81,011,473 (GRCm39) D156G possibly damaging Het
Cryl1 A G 14: 57,541,232 (GRCm39) Y151H possibly damaging Het
Csmd3 C A 15: 47,520,969 (GRCm39) V1881L probably damaging Het
Ctnnal1 C T 4: 56,847,921 (GRCm39) A73T probably damaging Het
Cyp2c37 T C 19: 39,982,950 (GRCm39) S180P probably damaging Het
Cyp2c54 T C 19: 40,060,613 (GRCm39) T123A possibly damaging Het
Dennd6b T C 15: 89,071,417 (GRCm39) D304G probably damaging Het
Dnmt3l T C 10: 77,887,750 (GRCm39) probably benign Het
Eci1 G A 17: 24,652,234 (GRCm39) probably null Het
Efhc1 A G 1: 21,030,412 (GRCm39) Y115C probably damaging Het
Ern1 T A 11: 106,298,004 (GRCm39) K706* probably null Het
Ghrl T C 6: 113,696,299 (GRCm39) E31G probably damaging Het
Gpr108 A C 17: 57,550,101 (GRCm39) V179G probably benign Het
Henmt1 A G 3: 108,865,851 (GRCm39) probably benign Het
Ift172 A G 5: 31,444,011 (GRCm39) V69A probably damaging Het
Il17ra T C 6: 120,453,940 (GRCm39) probably benign Het
Il17rb T C 14: 29,726,304 (GRCm39) N95D probably benign Het
Il17rb G T 14: 29,728,112 (GRCm39) probably null Het
Iqub G A 6: 24,446,154 (GRCm39) L757F probably benign Het
Itpr1 T C 6: 108,355,128 (GRCm39) V473A probably benign Het
Itpr2 T G 6: 146,131,271 (GRCm39) N1978H probably damaging Het
Klk1b26 T A 7: 43,662,151 (GRCm39) F3Y probably damaging Het
Lars1 A G 18: 42,384,428 (GRCm39) V50A probably benign Het
Lax1 G T 1: 133,607,804 (GRCm39) H312Q probably benign Het
Lctl T C 9: 64,029,596 (GRCm39) probably benign Het
Lrp2 T A 2: 69,287,202 (GRCm39) D3745V probably damaging Het
Lrp2 G A 2: 69,290,681 (GRCm39) probably benign Het
Lvrn A T 18: 46,983,533 (GRCm39) H92L probably benign Het
Marchf1 A G 8: 66,871,625 (GRCm39) T385A probably damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Mbd5 T C 2: 49,162,428 (GRCm39) V970A possibly damaging Het
Mpp4 A T 1: 59,182,988 (GRCm39) probably benign Het
Mrnip G A 11: 50,090,747 (GRCm39) A304T probably damaging Het
Muc5b T C 7: 141,418,819 (GRCm39) S3922P possibly damaging Het
Myh3 T A 11: 66,987,333 (GRCm39) probably benign Het
Nbea A T 3: 55,944,698 (GRCm39) H555Q probably damaging Het
Niban3 T A 8: 72,055,143 (GRCm39) probably benign Het
Nlrp9c A T 7: 26,070,901 (GRCm39) probably benign Het
Nmur1 A T 1: 86,315,400 (GRCm39) V178E probably damaging Het
Nod2 T G 8: 89,390,406 (GRCm39) S238A probably benign Het
Ogfod1 A T 8: 94,789,651 (GRCm39) T451S probably damaging Het
Or1e17 T C 11: 73,831,935 (GRCm39) F288L probably damaging Het
Or2d36 T A 7: 106,747,394 (GRCm39) Y290* probably null Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or8b8 G A 9: 37,809,138 (GRCm39) G146D probably benign Het
Pcdh20 T C 14: 88,706,104 (GRCm39) I399V probably benign Het
Pdlim1 G T 19: 40,232,017 (GRCm39) H120Q probably damaging Het
Plg T C 17: 12,637,968 (GRCm39) V798A probably damaging Het
Polr2c A G 8: 95,584,403 (GRCm39) I39V possibly damaging Het
Ppfia2 C A 10: 106,666,575 (GRCm39) probably benign Het
Ppp1r3a A T 6: 14,719,696 (GRCm39) I406N probably benign Het
Psg28 A T 7: 18,160,098 (GRCm39) M366K probably benign Het
Rad54b T C 4: 11,601,702 (GRCm39) I419T probably damaging Het
Rnf43 A G 11: 87,622,108 (GRCm39) Q403R possibly damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Slc28a3 A G 13: 58,717,229 (GRCm39) probably benign Het
Smad2 A T 18: 76,422,108 (GRCm39) probably null Het
Smad4 G A 18: 73,791,720 (GRCm39) P274S probably benign Het
Smchd1 A T 17: 71,710,149 (GRCm39) V906D probably damaging Het
Soat2 C A 15: 102,067,188 (GRCm39) R320S possibly damaging Het
Spata33 C T 8: 123,948,626 (GRCm39) A57V probably damaging Het
Stab1 A G 14: 30,865,375 (GRCm39) L1814P probably benign Het
Stab2 T C 10: 86,783,008 (GRCm39) K680R probably benign Het
Stil A G 4: 114,898,369 (GRCm39) probably null Het
Sympk T A 7: 18,780,774 (GRCm39) L759H probably benign Het
Tet1 A T 10: 62,650,325 (GRCm39) probably null Het
Tfpi2 A T 6: 3,965,460 (GRCm39) N117K probably benign Het
Tle3 A G 9: 61,323,943 (GRCm39) Y766C probably damaging Het
Trpt1 C A 19: 6,975,298 (GRCm39) probably null Het
Tshz1 A G 18: 84,034,174 (GRCm39) F78S possibly damaging Het
Ttc1 T C 11: 43,629,635 (GRCm39) D177G probably damaging Het
Ttc13 T A 8: 125,401,140 (GRCm39) Y741F probably damaging Het
Ulk3 C T 9: 57,502,115 (GRCm39) S462L probably benign Het
Utrn C T 10: 12,401,077 (GRCm39) probably benign Het
V1rd19 A C 7: 23,703,010 (GRCm39) T159P probably damaging Het
Vars1 T C 17: 35,230,462 (GRCm39) V515A possibly damaging Het
Vmn1r85 A G 7: 12,818,515 (GRCm39) Y210H probably benign Het
Vmn2r89 A G 14: 51,693,435 (GRCm39) T262A probably damaging Het
Vps53 G A 11: 76,012,405 (GRCm39) T209I probably benign Het
Wdfy2 T C 14: 63,162,582 (GRCm39) F95L possibly damaging Het
Wwp1 G T 4: 19,627,911 (GRCm39) S694Y probably damaging Het
Zbtb8b T A 4: 129,326,463 (GRCm39) D201V probably damaging Het
Zmym5 A C 14: 57,041,908 (GRCm39) N123K possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- ATGTATGAGGCTCTGGGTGACACG -3'
(R):5'- TTCCAGAAAAGGACCGTCACGTC -3'

Sequencing Primer
(F):5'- ACGTGTACCTCCCCCCAC -3'
(R):5'- ACCTGGTGTCGATGATAGCTAAC -3'
Posted On 2013-04-24