Mutagenetix > Incidental Mutation

Incidental Mutation 'R5010:Mccc1'

390417

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

042601-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5010 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35959312-36000678 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35979017 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 326 (N326S)

Ref Sequence

ENSEMBL: ENSMUSP00000029259 (fasta)

Gene Model

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

AlphaFold

Q99MR8

Predicted Effect

probably benign
Transcript: ENSMUST00000029259
AA Change: N326S

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000029259
Gene: ENSMUSG00000027709
AA Change: N326S

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

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
AA Change: N106S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000143039
Gene: ENSMUSG00000027709
AA Change: N106S

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

Meta Mutation Damage Score

0.2978

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

98% (65/66)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	C	T	11: 58,422,804	A86V	possibly damaging	Het
9430097D07Rik	A	G	2: 32,574,428		probably benign	Het
Actr5	T	A	2: 158,635,363	D411E	probably benign	Het
Ang5	A	G	14: 43,962,845	D122G	probably benign	Het
Atg9a	A	T	1: 75,186,060		probably null	Het
C530008M17Rik	G	C	5: 76,657,834		probably benign	Het
Dctd	C	T	8: 48,137,414		probably benign	Het
Ddx11	G	A	17: 66,147,722	V642M	possibly damaging	Het
Dis3l2	G	A	1: 86,760,321	V100I	probably benign	Het
Echdc2	T	C	4: 108,172,131	V111A	probably benign	Het
Egr1	A	G	18: 34,863,658	T498A	probably benign	Het
Exosc3	T	C	4: 45,317,702	K200R	possibly damaging	Het
Exosc8	T	C	3: 54,729,223	D229G	probably benign	Het
Ext1	T	A	15: 53,092,412	I430F	probably damaging	Het
Fbxw22	T	C	9: 109,403,424	N31S	probably benign	Het
Gja8	T	C	3: 96,919,849	T166A	probably benign	Het
Gm21814	T	A	6: 149,583,618		noncoding transcript	Het
Gm21915	T	A	9: 40,670,648	H12Q	probably benign	Het
Gm597	A	G	1: 28,777,862	I363T	possibly damaging	Het
Hgsnat	G	A	8: 25,947,960	R527*	probably null	Het
Iqgap2	A	G	13: 95,673,743	F731S	probably benign	Het
Jchain	T	C	5: 88,522,505	H85R	probably damaging	Het
Kcnb2	T	C	1: 15,312,962	C171R	probably benign	Het
Kcnk3	C	A	5: 30,622,805	R400S	possibly damaging	Het
Klhl28	C	T	12: 64,957,227	E171K	probably damaging	Het
Lrrfip2	T	C	9: 111,223,972	I375T	possibly damaging	Het
Med13l	T	C	5: 118,593,550	V97A	possibly damaging	Het
Mertk	C	A	2: 128,784,000	T685K	probably benign	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Myom2	G	A	8: 15,083,310	V401M	probably damaging	Het
Nme5	A	C	18: 34,578,685	M1R	probably null	Het
Nop2	T	C	6: 125,133,763	S68P	probably benign	Het
Notch1	A	T	2: 26,476,114	D809E	possibly damaging	Het
Olfr292	T	C	7: 86,694,585	I43T	possibly damaging	Het
Ppat	C	T	5: 76,928,678		probably benign	Het
Prss23	T	A	7: 89,510,214	M216L	probably benign	Het
Psg18	A	T	7: 18,349,354	V171D	probably damaging	Het
Psg28	A	G	7: 18,427,891	V229A	probably damaging	Het
Qser1	T	C	2: 104,787,831	N879D	possibly damaging	Het
Rpap1	T	C	2: 119,770,041	N879S	probably benign	Het
Rusc2	T	C	4: 43,415,926	S411P	probably damaging	Het
Rxfp2	T	A	5: 150,067,360	W519R	probably damaging	Het
Scpep1	T	A	11: 88,941,349	Q185L	probably benign	Het
Serpinb11	A	G	1: 107,379,649	N270S	probably benign	Het
Serpinb6d	T	A	13: 33,671,444	M367K	probably benign	Het
Skint10	T	G	4: 112,727,672	I213L	probably benign	Het
Skint5	T	C	4: 113,546,537	T1163A	unknown	Het
Slamf9	A	T	1: 172,476,213	I42L	possibly damaging	Het
Slc1a3	T	C	15: 8,650,846		probably benign	Het
Smad6	T	A	9: 63,953,900	Q371L	possibly damaging	Het
Snx31	A	T	15: 36,555,324	V26E	probably damaging	Het
Taf4b	A	G	18: 14,822,172	N594S	possibly damaging	Het
Tanc2	T	C	11: 105,780,092	S172P	probably damaging	Het
Tas2r110	T	A	6: 132,868,475	Y156*	probably null	Het
Tbc1d20	G	A	2: 152,293,936		probably benign	Het
Timm50	A	T	7: 28,306,859	D272E	probably benign	Het
Ttn	T	G	2: 76,900,511		probably benign	Het
Vps13c	T	A	9: 67,916,379	F1362I	probably benign	Het
Vwf	T	C	6: 125,566,257	S154P	probably benign	Het
Zfp445	T	C	9: 122,852,345	R844G	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
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
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
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'- AGCAGCCTGAAAGGAGTCTG -3'
(R):5'- AGTCTGCGGTAGTGAAGTCAG -3'

Sequencing Primer
(F):5'- GTCTGGAATGTAATGTGTTCTCAAC -3'
(R):5'- TAGCATTCCTATGGAGGCCAG -3'

Posted On

2016-06-06