Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02088:Mccc1'

279330

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mccc1

Ensembl Gene

ENSMUSG00000027709

Gene Name

methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)

Synonyms

2310058B18Rik, MCCA, MCCalpha, 1810045E08Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02088

Quality Score

Status

Chromosome

Chromosomal Location

35959312-36000678 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35974202 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 485 (I485N)

Ref Sequence

ENSEMBL: ENSMUSP00000029259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029259] [ENSMUST00000199113] [ENSMUST00000200163]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029259
AA Change: I485N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029259
Gene: ENSMUSG00000027709
AA Change: I485N

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: 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

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

probably benign
Transcript: ENSMUST00000200163

SMART Domains

Protein: ENSMUSP00000143039
Gene: ENSMUSG00000027709

Domain	Start	End	E-Value	Type
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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	T	C	9: 104,098,881	E289G	probably damaging	Het
Aldh1l1	A	T	6: 90,580,590		probably benign	Het
Ampd3	T	A	7: 110,793,686	D220E	probably benign	Het
Ank3	T	C	10: 69,999,373	V136A	probably damaging	Het
Atg14	T	C	14: 47,542,859	K486R	probably benign	Het
Axin1	A	G	17: 26,188,695	I637V	probably benign	Het
Axin2	T	A	11: 108,923,616	F110Y	probably damaging	Het
Cdh12	A	T	15: 21,480,339	K214*	probably null	Het
Cfap44	A	C	16: 44,451,628	E1248A	possibly damaging	Het
Cryba4	A	G	5: 112,251,009		probably benign	Het
Cyp2c68	A	G	19: 39,703,521		probably benign	Het
Dnah5	G	T	15: 28,459,118		probably null	Het
Dok3	A	T	13: 55,524,370	V165E	probably damaging	Het
Etl4	A	T	2: 20,806,548	R1147S	probably damaging	Het
Fam212a	A	G	9: 107,984,457	F220S	probably damaging	Het
Fbxl6	G	T	15: 76,535,906	C502*	probably null	Het
Gp2	A	T	7: 119,454,469	Y90N	probably damaging	Het
H1fnt	G	T	15: 98,257,178	T30K	probably damaging	Het
Itfg2	A	G	6: 128,411,606	V306A	probably benign	Het
Lrig2	T	C	3: 104,467,108	Y219C	probably damaging	Het
Mettl25	A	G	10: 105,823,250	F391L	probably damaging	Het
Muc19	C	T	15: 91,891,168		noncoding transcript	Het
Muc2	T	C	7: 141,751,504	C182R	probably damaging	Het
Nlrp4g	T	C	9: 124,350,453		noncoding transcript	Het
Nms	A	G	1: 38,939,277		probably benign	Het
Nr3c1	T	C	18: 39,424,391	N503S	probably damaging	Het
Olfr1495	T	C	19: 13,768,666	F108S	probably damaging	Het
Olfr186	A	G	16: 59,027,052	L285P	probably damaging	Het
Olfr828	C	T	9: 18,815,923	V124I	probably benign	Het
Pcdhb5	G	A	18: 37,321,959	S464N	probably benign	Het
Pcgf6	T	C	19: 47,050,804	T6A	unknown	Het
Rdx	A	G	9: 52,060,883		probably benign	Het
Shmt1	T	C	11: 60,789,653	T403A	probably damaging	Het
Slc35d1	A	G	4: 103,211,325	F148L	probably benign	Het
Tk1	A	G	11: 117,824,665		probably benign	Het
Tnks	T	A	8: 34,839,994	I1134F	possibly damaging	Het
Ttn	A	G	2: 76,726,691	V29990A	probably damaging	Het
Zcchc11	A	G	4: 108,512,218		probably benign	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
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
R8300:Mccc1	UTSW	3	35963604	missense	probably damaging	1.00
R8359:Mccc1	UTSW	3	35964344	missense	probably benign	0.00

Posted On

2015-04-16