Mutagenetix > Incidental Mutation

Incidental Mutation 'R0391:Mccc1'

31665

Institutional Source

Beutler Lab

Gene Symbol

Mccc1

Ensembl Gene

ENSMUSG00000027709

Gene Name

methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)

Synonyms

2310058B18Rik, MCCA, MCCalpha, 1810045E08Rik

MMRRC Submission

038597-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0391 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

35959312-36000678 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 35963570 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	A	4: 122,701,177		probably benign	Het
Abcc2	G	A	19: 43,821,605		probably benign	Het
Abcc8	C	G	7: 46,122,173	G838A	probably damaging	Het
Akr1c21	G	A	13: 4,581,200	A245T	probably damaging	Het
Anapc15-ps	T	C	10: 95,673,277	E47G	probably damaging	Het
Apoa1	A	G	9: 46,229,842	T79A	probably benign	Het
Atp6v1b1	A	G	6: 83,756,921	H378R	possibly damaging	Het
C4b	A	G	17: 34,735,614		probably benign	Het
Catsperd	A	T	17: 56,662,821	E638D	probably benign	Het
Cckar	C	T	5: 53,706,253		probably null	Het
Cfap100	C	T	6: 90,405,339		probably benign	Het
Chd1	G	T	17: 15,749,894	G970C	probably damaging	Het
Col14a1	A	G	15: 55,446,259		probably benign	Het
Col17a1	C	T	19: 47,663,824	V698M	probably damaging	Het
Cpeb1	T	C	7: 81,361,725	D156G	possibly damaging	Het
Cryl1	A	G	14: 57,303,775	Y151H	possibly damaging	Het
Csmd3	C	A	15: 47,657,573	V1881L	probably damaging	Het
Ctnnal1	C	T	4: 56,847,921	A73T	probably damaging	Het
Cyp2c37	T	C	19: 39,994,506	S180P	probably damaging	Het
Cyp2c54	T	C	19: 40,072,169	T123A	possibly damaging	Het
Dennd6b	T	C	15: 89,187,214	D304G	probably damaging	Het
Dnmt3l	T	C	10: 78,051,916		probably benign	Het
Eci1	G	A	17: 24,433,260		probably null	Het
Efhc1	A	G	1: 20,960,188	Y115C	probably damaging	Het
Ern1	T	A	11: 106,407,178	K706*	probably null	Het
Fam129c	T	A	8: 71,602,499		probably benign	Het
Ghrl	T	C	6: 113,719,338	E31G	probably damaging	Het
Gpr108	A	C	17: 57,243,101	V179G	probably benign	Het
Henmt1	A	G	3: 108,958,535		probably benign	Het
Ift172	A	G	5: 31,286,667	V69A	probably damaging	Het
Il17ra	T	C	6: 120,476,979		probably benign	Het
Il17rb	T	C	14: 30,004,347	N95D	probably benign	Het
Il17rb	G	T	14: 30,006,155		probably null	Het
Iqub	G	A	6: 24,446,155	L757F	probably benign	Het
Itpr1	T	C	6: 108,378,167	V473A	probably benign	Het
Itpr2	T	G	6: 146,229,773	N1978H	probably damaging	Het
Klk1b26	T	A	7: 44,012,727	F3Y	probably damaging	Het
Lars	A	G	18: 42,251,363	V50A	probably benign	Het
Lax1	G	T	1: 133,680,066	H312Q	probably benign	Het
Lctl	T	C	9: 64,122,314		probably benign	Het
Lrp2	T	A	2: 69,456,858	D3745V	probably damaging	Het
Lrp2	G	A	2: 69,460,337		probably benign	Het
Lvrn	A	T	18: 46,850,466	H92L	probably benign	Het
March1	A	G	8: 66,418,973	T385A	probably damaging	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Mbd5	T	C	2: 49,272,416	V970A	possibly damaging	Het
Mpp4	A	T	1: 59,143,829		probably benign	Het
Mrnip	G	A	11: 50,199,920	A304T	probably damaging	Het
Muc5b	T	C	7: 141,865,082	S3922P	possibly damaging	Het
Myh3	T	A	11: 67,096,507		probably benign	Het
Nbea	A	T	3: 56,037,277	H555Q	probably damaging	Het
Nlrp9c	A	T	7: 26,371,476		probably benign	Het
Nmur1	A	T	1: 86,387,678	V178E	probably damaging	Het
Nod2	T	G	8: 88,663,778	S238A	probably benign	Het
Ogfod1	A	T	8: 94,063,023	T451S	probably damaging	Het
Olfr145	G	A	9: 37,897,842	G146D	probably benign	Het
Olfr23	T	C	11: 73,941,109	F288L	probably damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr716	T	A	7: 107,148,187	Y290*	probably null	Het
Pcdh20	T	C	14: 88,468,668	I399V	probably benign	Het
Pdlim1	G	T	19: 40,243,573	H120Q	probably damaging	Het
Plg	T	C	17: 12,419,081	V798A	probably damaging	Het
Polr2c	A	G	8: 94,857,775	I39V	possibly damaging	Het
Ppfia2	C	A	10: 106,830,714		probably benign	Het
Ppp1r3a	A	T	6: 14,719,697	I406N	probably benign	Het
Psg28	A	T	7: 18,426,173	M366K	probably benign	Het
Rad54b	T	C	4: 11,601,702	I419T	probably damaging	Het
Rnf43	A	G	11: 87,731,282	Q403R	possibly damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Slc28a3	A	G	13: 58,569,415		probably benign	Het
Smad2	A	T	18: 76,289,037		probably null	Het
Smad4	G	A	18: 73,658,649	P274S	probably benign	Het
Smchd1	A	T	17: 71,403,154	V906D	probably damaging	Het
Soat2	C	A	15: 102,158,753	R320S	possibly damaging	Het
Spata33	C	T	8: 123,221,887	A57V	probably damaging	Het
Stab1	A	G	14: 31,143,418	L1814P	probably benign	Het
Stab2	T	C	10: 86,947,144	K680R	probably benign	Het
Stil	A	G	4: 115,041,172		probably null	Het
Sympk	T	A	7: 19,046,849	L759H	probably benign	Het
Tet1	A	T	10: 62,814,546		probably null	Het
Tfpi2	A	T	6: 3,965,460	N117K	probably benign	Het
Tle3	A	G	9: 61,416,661	Y766C	probably damaging	Het
Trpt1	C	A	19: 6,997,930		probably null	Het
Tshz1	A	G	18: 84,016,049	F78S	possibly damaging	Het
Ttc1	T	C	11: 43,738,808	D177G	probably damaging	Het
Ttc13	T	A	8: 124,674,401	Y741F	probably damaging	Het
Ulk3	C	T	9: 57,594,832	S462L	probably benign	Het
Utrn	C	T	10: 12,525,333		probably benign	Het
V1rd19	A	C	7: 24,003,585	T159P	probably damaging	Het
Vars	T	C	17: 35,011,486	V515A	possibly damaging	Het
Vmn1r85	A	G	7: 13,084,588	Y210H	probably benign	Het
Vmn2r89	A	G	14: 51,455,978	T262A	probably damaging	Het
Vps53	G	A	11: 76,121,579	T209I	probably benign	Het
Wdfy2	T	C	14: 62,925,133	F95L	possibly damaging	Het
Wwp1	G	T	4: 19,627,911	S694Y	probably damaging	Het
Zbtb8b	T	A	4: 129,432,670	D201V	probably damaging	Het
Zmym5	A	C	14: 56,804,451	N123K	possibly damaging	Het

Other mutations in Mccc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL01878:Mccc1	APN	3	35975892	missense	probably damaging	1.00
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
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
R8300:Mccc1	UTSW	3	35963604	missense	probably damaging	1.00
R8359:Mccc1	UTSW	3	35964344	missense	probably benign	0.00
R8701:Mccc1	UTSW	3	35995784	missense	probably benign
R9225:Mccc1	UTSW	3	35964362	missense	probably benign	0.00
R9331:Mccc1	UTSW	3	35960089	missense	probably damaging	0.98
R9407:Mccc1	UTSW	3	35976716	missense	possibly damaging	0.94
R9557:Mccc1	UTSW	3	35995827	missense	probably damaging	1.00
R9631:Mccc1	UTSW	3	35960036	nonsense	probably null
R9689:Mccc1	UTSW	3	35976754	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