Mutagenetix > Incidental Mutation

Incidental Mutation 'R4807:Mccc1'

370733

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

042426-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4807 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36013461-36054827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36039195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 46 (Y46C)

Ref Sequence

ENSEMBL: ENSMUSP00000143039 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029259] [ENSMUST00000199113] [ENSMUST00000200162] [ENSMUST00000200163]

AlphaFold

Q99MR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000029259
AA Change: Y266C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029259
Gene: ENSMUSG00000027709
AA Change: Y266C

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: ENSMUST00000198515

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: ENSMUST00000200162

SMART Domains

Protein: ENSMUSP00000143396
Gene: ENSMUSG00000027709

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000200163
AA Change: Y46C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143039
Gene: ENSMUSG00000027709
AA Change: Y46C

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

0.6072

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (86/88)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	C	T	7: 120,139,832 (GRCm39)	A1499V	probably damaging	Het
Agap3	T	A	5: 24,682,114 (GRCm39)	D386E	probably damaging	Het
Ahdc1	C	A	4: 132,791,624 (GRCm39)	T955K	possibly damaging	Het
Ankrd9	A	G	12: 110,943,669 (GRCm39)	Y122H	probably benign	Het
Apc2	G	T	10: 80,150,196 (GRCm39)	R1721L	probably benign	Het
Arfgef3	A	G	10: 18,522,385 (GRCm39)	V547A	probably benign	Het
Arhgap42	T	C	9: 9,046,629 (GRCm39)	N203D	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Aspm	T	A	1: 139,405,657 (GRCm39)	F1515I	probably damaging	Het
Baz1a	T	C	12: 54,945,267 (GRCm39)	T1363A	probably benign	Het
Cacng3	C	T	7: 122,353,732 (GRCm39)	A72V	probably benign	Het
Casp8ap2	T	C	4: 32,644,505 (GRCm39)	C1193R	possibly damaging	Het
Ccr3	A	G	9: 123,829,334 (GRCm39)	Y223C	probably damaging	Het
Clcn3	C	A	8: 61,387,564 (GRCm39)	L201F	probably damaging	Het
Cltc	A	C	11: 86,591,902 (GRCm39)		probably benign	Het
Cyp19a1	G	T	9: 54,083,930 (GRCm39)	T86K	possibly damaging	Het
Ddx24	A	T	12: 103,385,720 (GRCm39)	F248L	probably damaging	Het
Ddx60	G	A	8: 62,432,372 (GRCm39)	V885I	probably damaging	Het
Dync2h1	T	C	9: 7,139,422 (GRCm39)	I1404M	probably benign	Het
Emilin2	A	T	17: 71,580,443 (GRCm39)	V761E	probably damaging	Het
Endou	C	T	15: 97,629,113 (GRCm39)	C13Y	probably benign	Het
Ep400	C	A	5: 110,843,444 (GRCm39)		probably null	Het
Fbxo33	C	A	12: 59,265,998 (GRCm39)	D90Y	probably damaging	Het
Fryl	A	G	5: 73,198,705 (GRCm39)	F2641L	probably benign	Het
Gbp2b	A	G	3: 142,304,006 (GRCm39)	I34V	probably benign	Het
Ghdc	T	C	11: 100,661,051 (GRCm39)	H38R	probably damaging	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Gpr63	A	C	4: 25,007,446 (GRCm39)	M57L	probably benign	Het
Gprc5c	A	G	11: 114,755,324 (GRCm39)	S3G	probably damaging	Het
Grk4	A	T	5: 34,909,552 (GRCm39)	M539L	probably benign	Het
Gulo	C	T	14: 66,227,833 (GRCm39)	M366I	probably benign	Het
Heatr5a	T	C	12: 51,924,303 (GRCm39)	H1970R	probably damaging	Het
Hmbox1	T	C	14: 65,062,998 (GRCm39)		probably benign	Het
Ighg2b	T	C	12: 113,267,965 (GRCm39)		probably benign	Het
Il1b	A	T	2: 129,212,226 (GRCm39)	C9S	probably benign	Het
Itpkb	A	T	1: 180,162,440 (GRCm39)		probably benign	Het
Kcnn1	T	A	8: 71,300,822 (GRCm39)	H473L	probably damaging	Het
Kidins220	C	T	12: 25,107,284 (GRCm39)	S1579L	probably damaging	Het
Kif1b	A	T	4: 149,332,378 (GRCm39)		probably benign	Het
Lyg2	A	T	1: 37,950,148 (GRCm39)	M60K	possibly damaging	Het
Mak16	G	T	8: 31,656,161 (GRCm39)	H107Q	probably benign	Het
Mapkap1	G	A	2: 34,487,434 (GRCm39)		probably null	Het
Mastl	A	G	2: 23,022,855 (GRCm39)	S623P	probably benign	Het
Mdn1	T	G	4: 32,685,651 (GRCm39)		probably null	Het
Med25	T	A	7: 44,534,043 (GRCm39)	T31S	probably benign	Het
Mprip	G	A	11: 59,648,846 (GRCm39)	G850D	probably benign	Het
Mrpl10	T	C	11: 96,932,449 (GRCm39)	I8T	probably benign	Het
Msr1	T	C	8: 40,095,668 (GRCm39)		probably benign	Het
Myo3b	T	A	2: 69,936,056 (GRCm39)	I99N	probably damaging	Het
Neurod6	A	T	6: 55,655,640 (GRCm39)	N332K	probably damaging	Het
Npc1l1	T	C	11: 6,168,723 (GRCm39)	Y886C	probably damaging	Het
Nsmaf	T	C	4: 6,398,542 (GRCm39)		probably null	Het
Ntn4	C	T	10: 93,480,362 (GRCm39)	R29C	probably damaging	Het
Or5d47	T	A	2: 87,804,095 (GRCm39)	I305L	probably benign	Het
Plppr2	A	G	9: 21,855,810 (GRCm39)	N261S	probably damaging	Het
Prkar2a	T	A	9: 108,617,584 (GRCm39)		probably benign	Het
Pxk	G	A	14: 8,144,133 (GRCm38)	V294M	probably damaging	Het
Rars1	A	G	11: 35,699,973 (GRCm39)	F608L	possibly damaging	Het
Rasa3	A	G	8: 13,664,633 (GRCm39)	F60L	probably damaging	Het
Rbm47	C	T	5: 66,176,647 (GRCm39)	A490T	possibly damaging	Het
Sardh	T	C	2: 27,079,539 (GRCm39)	I918V	probably benign	Het
Saxo5	A	G	8: 3,529,004 (GRCm39)	K193R	possibly damaging	Het
Sdhc	T	C	1: 170,963,626 (GRCm39)	Y80C	probably damaging	Het
Selp	T	A	1: 163,971,505 (GRCm39)	M653K	probably damaging	Het
Slc6a17	T	C	3: 107,407,803 (GRCm39)	D56G	possibly damaging	Het
Slco1b2	T	C	6: 141,615,195 (GRCm39)	S367P	probably damaging	Het
Spry4	TTGAGGTCC	T	18: 38,723,328 (GRCm39)		probably null	Het
Strip2	T	A	6: 29,925,092 (GRCm39)	Y143*	probably null	Het
Sycp2	T	C	2: 178,035,754 (GRCm39)		probably benign	Het
Tex30	C	A	1: 44,126,118 (GRCm39)	V204L	possibly damaging	Het
Tln2	G	T	9: 67,239,015 (GRCm39)	T1087K	probably benign	Het
Tmeff2	A	C	1: 51,018,546 (GRCm39)	N176T	probably benign	Het
Togaram2	C	G	17: 72,004,918 (GRCm39)	T324R	probably damaging	Het
Trpc3	C	T	3: 36,688,531 (GRCm39)	R836Q	probably benign	Het
Trpm7	A	C	2: 126,673,149 (GRCm39)	L535V	probably benign	Het
Vmn1r213	G	A	13: 23,195,775 (GRCm39)	W119*	probably null	Het
Vps29	T	G	5: 122,500,951 (GRCm39)	V176G	probably damaging	Het
Vsig10l	A	G	7: 43,113,173 (GRCm39)	T144A	possibly damaging	Het
Wdr11	T	C	7: 129,229,746 (GRCm39)	Y844H	probably benign	Het
Zbp1	A	T	2: 173,053,999 (GRCm39)	M174K	probably damaging	Het
Zfp341	G	A	2: 154,487,786 (GRCm39)		probably benign	Het
Zfp638	G	A	6: 83,920,040 (GRCm39)	R546H	probably damaging	Het
Zfp820	A	T	17: 22,042,853 (GRCm39)	M1K	probably null	Het

Other mutations in Mccc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TCACCCTCGGATCCTCAAAG -3'
(R):5'- GTACCCATGTTCCTAGGTTGTAAC -3'

Sequencing Primer
(F):5'- ATGTTACTATTCAGATGCTAGGGATG -3'
(R):5'- GGTTGTAACCTCAACATAGAGTCCAG -3'

Posted On

2016-02-04