Mutagenetix > Incidental Mutations

Incidental Mutation 'R7135:Mccc1'

552979

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7135 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35959312-36000678 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35995818 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 75 (Y75C)

Ref Sequence

ENSEMBL: ENSMUSP00000029259 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000029259
AA Change: Y75C

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

SMART Domains

Protein: ENSMUSP00000029259
Gene: ENSMUSG00000027709
AA Change: Y75C

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

probably damaging
Transcript: ENSMUST00000199113
AA Change: Y75C

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

SMART Domains

Protein: ENSMUSP00000143266
Gene: ENSMUSG00000027709
AA Change: Y75C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (83/83)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016G14Rik	T	C	13: 24,741,506	S78P	probably benign	Het
Aars2	T	A	17: 45,508,961	Y221*	probably null	Het
AC166344.1	T	A	14: 43,300,788	F97I		Het
Ankmy2	T	C	12: 36,196,312	S412P	probably benign	Het
Ap1s3	T	C	1: 79,609,202	T144A	probably benign	Het
Asb3	T	A	11: 30,998,501	L59*	probably null	Het
Asxl3	G	T	18: 22,517,701	G916*	probably null	Het
Asxl3	G	C	18: 22,517,702	G916A	probably damaging	Het
Birc2	A	C	9: 7,818,761	F610V	probably damaging	Het
Camk4	G	A	18: 33,107,943		probably null	Het
Ccdc162	A	G	10: 41,673,859	S343P	probably benign	Het
Ccnk	T	A	12: 108,186,475	L17Q	probably damaging	Het
Cd59b	G	A	2: 104,084,447	W63*	probably null	Het
Chrm3	C	T	13: 9,877,801	V400I	probably benign	Het
Crb1	C	A	1: 139,243,367	V762F	probably damaging	Het
Cspp1	C	T	1: 10,088,936	T529I	possibly damaging	Het
Cttnbp2	A	G	6: 18,448,447	I71T	possibly damaging	Het
Cyb561	C	A	11: 105,935,567	G90V	probably damaging	Het
Cyld	T	A	8: 88,744,892	D804E	possibly damaging	Het
Ddx31	G	A	2: 28,848,306	V160I	probably benign	Het
Dgkg	T	C	16: 22,500,382	D643G	probably damaging	Het
Dnah12	G	A	14: 26,778,912		probably null	Het
Dnah12	T	G	14: 26,801,413	I1953S	probably damaging	Het
Dnah7b	T	C	1: 46,139,710	W848R	probably damaging	Het
Dnah7c	C	T	1: 46,533,208	T947M	probably damaging	Het
Dnmt3c	C	A	2: 153,714,952		probably null	Het
Dsp	A	T	13: 38,179,073	Y443F	probably damaging	Het
Espl1	T	A	15: 102,319,524	C1603*	probably null	Het
Faiml	G	T	9: 99,234,443	R65S	probably benign	Het
Gfpt2	T	C	11: 49,804,955	I4T	probably damaging	Het
Gm10376	T	A	14: 43,010,493	M179L	probably benign	Het
Gm13084	A	T	4: 143,810,663	L366Q	probably damaging	Het
Gm4302	T	A	10: 100,341,727	M291K	unknown	Het
Gm8906	C	T	5: 11,505,231	P83S	probably damaging	Het
Gnb1l	T	A	16: 18,545,168	D154E	probably benign	Het
Igkv10-94	T	C	6: 68,704,743	R38G	possibly damaging	Het
Inmt	A	T	6: 55,171,028	Y205*	probably null	Het
Krba1	A	G	6: 48,416,299	Q1049R	probably benign	Het
Lpxn	T	A	19: 12,833,319	C376S	probably damaging	Het
Lrrc52	T	A	1: 167,466,450	I89F	probably damaging	Het
Map9	A	T	3: 82,363,458	T110S	probably benign	Het
Mff	T	A	1: 82,747,091	L203*	probably null	Het
Micall1	C	A	15: 79,109,424	D47E	unknown	Het
Mink1	T	C	11: 70,603,503	F243S	probably damaging	Het
Mlycd	C	T	8: 119,402,477	R228W	probably damaging	Het
Msr1	A	T	8: 39,589,424	V370E	possibly damaging	Het
Naip6	T	C	13: 100,300,419	E532G	probably damaging	Het
Nepn	G	A	10: 52,391,719	C27Y	probably damaging	Het
Ninl	T	C	2: 150,955,604	H592R	probably benign	Het
Nr4a2	A	G	2: 57,112,249	M64T	possibly damaging	Het
Olfr1279	T	A	2: 111,307,020	F272I	probably benign	Het
Olfr484	T	C	7: 108,124,574	K230E	probably damaging	Het
Oprm1	A	T	10: 6,830,203	I171F	possibly damaging	Het
Pcbp1	A	T	6: 86,525,506	M137K	possibly damaging	Het
Pcf11	A	T	7: 92,657,316	S1215T	probably benign	Het
Pdlim5	A	T	3: 142,311,922		probably null	Het
Pecam1	T	C	11: 106,689,031	I402V	probably damaging	Het
Pex12	T	C	11: 83,297,642	T176A	probably benign	Het
Phf3	T	C	1: 30,831,109	K286R	possibly damaging	Het
Pik3ap1	T	A	19: 41,332,321	D153V	probably damaging	Het
Pkhd1l1	T	A	15: 44,584,978		probably null	Het
Plekhn1	A	G	4: 156,223,335	V378A	probably benign	Het
Ptprm	A	T	17: 66,944,288	D531E	possibly damaging	Het
Pum2	A	T	12: 8,728,952	Q508L	possibly damaging	Het
Rad54l	A	G	4: 116,105,830	S324P	probably damaging	Het
Recql5	C	T	11: 115,930,672		probably null	Het
Reln	A	T	5: 21,976,596	V1763D	possibly damaging	Het
Rp1	T	C	1: 4,348,168	N907S	possibly damaging	Het
Scaf11	T	A	15: 96,420,328	N452Y	possibly damaging	Het
Scgb2b3	T	A	7: 31,360,214	H45L	possibly damaging	Het
Sim1	A	G	10: 50,895,927	T11A	probably damaging	Het
Slc5a12	T	A	2: 110,616,714	M189K	possibly damaging	Het
Slco2b1	C	T	7: 99,695,063	G10S	probably null	Het
Stxbp3	A	G	3: 108,800,755	L410P	probably damaging	Het
Sugct	T	C	13: 17,302,009	N297D	probably benign	Het
Syne1	A	G	10: 5,233,409	I4132T	probably benign	Het
Teddm1b	A	T	1: 153,875,166	L240F	probably damaging	Het
Tlr5	C	A	1: 182,975,523	D797E	possibly damaging	Het
Tmprss13	G	T	9: 45,338,345	G327C	probably damaging	Het
Tnrc18	G	T	5: 142,787,817	A419D		Het
Ttc28	T	C	5: 111,280,007	Y1790H	probably damaging	Het
Vmn1r125	T	G	7: 21,272,402	M75R	probably damaging	Het
Vwa3a	T	A	7: 120,773,030	D276E	possibly damaging	Het
Wdfy3	C	T	5: 101,915,437	V1322M	probably damaging	Het
Wdr11	T	C	7: 129,628,106	S872P	possibly damaging	Het
Zc3h13	T	C	14: 75,321,721	S357P	unknown	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGTTGACACTTGTAATCATCAACTG -3'
(R):5'- CCTTATGGGATGACTCATAACATATC -3'

Sequencing Primer
(F):5'- ATGGCAGATCACAGTTGTCC -3'
(R):5'- CCAAGGTCCTCATTGCAA -3'

Posted On

2019-05-15