Mutagenetix > Incidental Mutation

Incidental Mutation 'R1827:Mccc1'

206883

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

039854-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1827 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36013461-36054827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36039150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 281 (I281N)

Ref Sequence

ENSEMBL: ENSMUSP00000029259 (fasta)

Gene Model

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

AlphaFold

Q99MR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000029259
AA Change: I281N

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

SMART Domains

Protein: ENSMUSP00000029259
Gene: ENSMUSG00000027709
AA Change: I281N

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: I61N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143039
Gene: ENSMUSG00000027709
AA Change: I61N

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

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	G	C	7: 131,043,004 (GRCm39)	R355T	probably damaging	Het
Ackr2	C	T	9: 121,738,581 (GRCm39)	R319C	probably benign	Het
Acot4	G	A	12: 84,088,712 (GRCm39)	A187T	probably damaging	Het
Adgrb2	A	C	4: 129,906,350 (GRCm39)	Q926P	probably damaging	Het
Adgrb3	T	C	1: 25,571,658 (GRCm39)	T420A	probably damaging	Het
Adra1b	A	T	11: 43,726,476 (GRCm39)	V147E	probably damaging	Het
Bco1	A	G	8: 117,832,498 (GRCm39)	Y98C	probably damaging	Het
Car5a	C	T	8: 122,650,547 (GRCm39)	V166M	probably benign	Het
Cdh5	T	C	8: 104,839,541 (GRCm39)	L4P	possibly damaging	Het
Clec12a	A	G	6: 129,330,762 (GRCm39)	T115A	probably damaging	Het
Cmya5	G	A	13: 93,210,956 (GRCm39)	T3279I	possibly damaging	Het
Col4a4	C	T	1: 82,517,709 (GRCm39)	G105D	unknown	Het
Cyp2d34	A	T	15: 82,500,295 (GRCm39)	H481Q	probably benign	Het
Dhx15	A	T	5: 52,327,422 (GRCm39)	C307*	probably null	Het
Dnah9	A	G	11: 65,740,887 (GRCm39)	Y4100H	probably damaging	Het
Dock10	T	C	1: 80,508,009 (GRCm39)	N1647S	probably benign	Het
Duox1	T	A	2: 122,177,861 (GRCm39)	Y1548*	probably null	Het
Esyt1	T	C	10: 128,352,238 (GRCm39)	E763G	probably benign	Het
Fbh1	G	T	2: 11,768,699 (GRCm39)	D332E	possibly damaging	Het
Fndc8	G	A	11: 82,790,355 (GRCm39)	V275M	probably damaging	Het
Focad	T	G	4: 88,147,620 (GRCm39)	Y420D	probably benign	Het
Gml	A	T	15: 74,688,280 (GRCm39)	H62Q	probably benign	Het
Gpr158	A	T	2: 21,832,129 (GRCm39)	L1076F	probably benign	Het
Gpr161	A	G	1: 165,134,136 (GRCm39)	T133A	possibly damaging	Het
Gpr83	G	T	9: 14,779,629 (GRCm39)	C269F	possibly damaging	Het
Gsg1l	A	T	7: 125,509,369 (GRCm39)	I256K	possibly damaging	Het
Hao1	T	A	2: 134,372,584 (GRCm39)	R141S	probably benign	Het
Hnf1a	G	A	5: 115,098,254 (GRCm39)	A116V	probably damaging	Het
Hrh4	A	T	18: 13,155,261 (GRCm39)	T267S	probably damaging	Het
Igfals	A	T	17: 25,099,278 (GRCm39)	N123I	probably benign	Het
Iglon5	T	A	7: 43,128,545 (GRCm39)	T91S	probably benign	Het
Impg2	A	T	16: 56,087,583 (GRCm39)	N1134I	possibly damaging	Het
Incenp	A	G	19: 9,850,093 (GRCm39)	V860A	possibly damaging	Het
Irf5	A	T	6: 29,536,672 (GRCm39)	H461L	possibly damaging	Het
Itpr2	A	G	6: 146,229,830 (GRCm39)	L1255P	probably damaging	Het
Kank2	A	G	9: 21,706,761 (GRCm39)	S86P	probably damaging	Het
Kcnma1	C	A	14: 23,380,997 (GRCm39)	D903Y	probably damaging	Het
Kcnn3	A	T	3: 89,428,301 (GRCm39)	M176L	possibly damaging	Het
Mms19	G	A	19: 41,942,116 (GRCm39)	A584V	probably benign	Het
Mon2	A	T	10: 122,882,216 (GRCm39)	D184E	probably damaging	Het
Mrpl1	T	C	5: 96,374,202 (GRCm39)	V159A	possibly damaging	Het
Mtrex	C	A	13: 113,049,633 (GRCm39)		probably null	Het
Myo18a	C	T	11: 77,709,597 (GRCm39)	T190I	probably benign	Het
Myo7a	A	T	7: 97,725,938 (GRCm39)	M1038K	probably damaging	Het
Myrfl	T	A	10: 116,668,852 (GRCm39)	I304F	probably damaging	Het
Neo1	G	A	9: 58,824,314 (GRCm39)	R705*	probably null	Het
Nfat5	T	C	8: 108,093,966 (GRCm39)	S736P	probably benign	Het
Nlrp4c	C	T	7: 6,068,765 (GRCm39)	P222L	probably damaging	Het
Nmt1	T	A	11: 102,955,664 (GRCm39)	W481R	probably damaging	Het
Ntrk3	T	A	7: 77,897,049 (GRCm39)	I663L	probably damaging	Het
Nup210l	A	T	3: 90,061,864 (GRCm39)	E681V	probably damaging	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Or4c105	A	T	2: 88,648,402 (GRCm39)	I296F	probably benign	Het
Or55b3	A	G	7: 102,126,720 (GRCm39)	L119P	probably damaging	Het
Or56b1b	A	T	7: 108,164,282 (GRCm39)	V240D	probably benign	Het
Pald1	ATGCTGCTGCTGCTGC	ATGCTGCTGCTGC	10: 61,191,701 (GRCm39)		probably benign	Het
Ppm1e	T	C	11: 87,122,521 (GRCm39)	T479A	probably damaging	Het
Ppp1r7	A	G	1: 93,288,518 (GRCm39)	E298G	probably benign	Het
Pramel29	G	A	4: 143,936,180 (GRCm39)	P27S	probably damaging	Het
Prkaca	T	C	8: 84,717,616 (GRCm39)		probably null	Het
Prss36	A	G	7: 127,532,664 (GRCm39)	V718A	probably damaging	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Rnf182	G	A	13: 43,822,010 (GRCm39)	W187*	probably null	Het
Rrp12	G	C	19: 41,868,920 (GRCm39)	D519E	possibly damaging	Het
Rufy4	T	C	1: 74,173,279 (GRCm39)	L415P	probably damaging	Het
Ryk	T	A	9: 102,765,706 (GRCm39)	D335E	probably benign	Het
S100a11	A	T	3: 93,433,428 (GRCm39)	I91F	probably benign	Het
Scin	T	C	12: 40,118,922 (GRCm39)	R625G	possibly damaging	Het
Simc1	T	A	13: 54,672,452 (GRCm39)	C267S	probably benign	Het
Slc28a1	T	C	7: 80,787,950 (GRCm39)	V279A	possibly damaging	Het
Slc30a8	T	A	15: 52,194,953 (GRCm39)		probably null	Het
Slco6d1	A	G	1: 98,348,941 (GRCm39)	D4G	probably damaging	Het
Tmem127	G	A	2: 127,098,094 (GRCm39)		probably null	Het
Trpm1	G	A	7: 63,884,755 (GRCm39)	R812H	probably damaging	Het
Tsga10	T	A	1: 37,874,661 (GRCm39)	I75F	probably damaging	Het
Tyms	C	T	5: 30,267,014 (GRCm39)		probably null	Het
Ubr4	A	G	4: 139,153,008 (GRCm39)		probably null	Het
Unc45a	A	G	7: 79,981,488 (GRCm39)	V438A	possibly damaging	Het
Usf2	T	C	7: 30,654,765 (GRCm39)	D110G	probably damaging	Het
Vit	T	C	17: 78,853,875 (GRCm39)		probably null	Het
Vmn2r104	A	T	17: 20,262,497 (GRCm39)	M211K	probably damaging	Het
Vmn2r11	T	C	5: 109,199,938 (GRCm39)	H505R	probably benign	Het
Vmn2r77	G	A	7: 86,450,821 (GRCm39)	A236T	probably damaging	Het
Xpo1	T	C	11: 23,235,155 (GRCm39)	M608T	probably benign	Het
Zfp112	T	C	7: 23,824,385 (GRCm39)	F116L	probably damaging	Het
Zfp84	A	G	7: 29,476,768 (GRCm39)	T487A	possibly damaging	Het
Zfpl1	A	C	19: 6,131,901 (GRCm39)	L241R	probably benign	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
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'- AAGACGACTCACCTGTGTCTAG -3'
(R):5'- GGAATCTTGGTTATTTTGGCCAAC -3'

Sequencing Primer
(F):5'- CCTGTGTCTAGTCTCAGAACAATAC -3'
(R):5'- CTTGGTTATTTTGGCCAACTGTTTG -3'

Posted On

2014-06-23