Mutagenetix > Incidental Mutation

Incidental Mutation 'R7135:Mccc1'

552979

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

045247-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7135 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36013461-36054827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36049967 bp (GRCm39)

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]

AlphaFold

Q99MR8

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
Aars2	T	A	17: 45,819,887 (GRCm39)	Y221*	probably null	Het
AC166344.1	T	A	14: 43,158,245 (GRCm39)	F97I		Het
Ankmy2	T	C	12: 36,246,311 (GRCm39)	S412P	probably benign	Het
Ap1s3	T	C	1: 79,586,919 (GRCm39)	T144A	probably benign	Het
Armh2	T	C	13: 24,925,489 (GRCm39)	S78P	probably benign	Het
Asb3	T	A	11: 30,948,501 (GRCm39)	L59*	probably null	Het
Asxl3	G	T	18: 22,650,758 (GRCm39)	G916*	probably null	Het
Asxl3	G	C	18: 22,650,759 (GRCm39)	G916A	probably damaging	Het
Birc2	A	C	9: 7,818,762 (GRCm39)	F610V	probably damaging	Het
Camk4	G	A	18: 33,240,996 (GRCm39)		probably null	Het
Ccdc162	A	G	10: 41,549,855 (GRCm39)	S343P	probably benign	Het
Ccnk	T	A	12: 108,152,734 (GRCm39)	L17Q	probably damaging	Het
Cd59b	G	A	2: 103,914,792 (GRCm39)	W63*	probably null	Het
Chrm3	C	T	13: 9,927,837 (GRCm39)	V400I	probably benign	Het
Crb1	C	A	1: 139,171,105 (GRCm39)	V762F	probably damaging	Het
Cspp1	C	T	1: 10,159,161 (GRCm39)	T529I	possibly damaging	Het
Cttnbp2	A	G	6: 18,448,446 (GRCm39)	I71T	possibly damaging	Het
Cyb561	C	A	11: 105,826,393 (GRCm39)	G90V	probably damaging	Het
Cyld	T	A	8: 89,471,520 (GRCm39)	D804E	possibly damaging	Het
Ddx31	G	A	2: 28,738,318 (GRCm39)	V160I	probably benign	Het
Dgkg	T	C	16: 22,319,132 (GRCm39)	D643G	probably damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnah12	T	G	14: 26,523,370 (GRCm39)	I1953S	probably damaging	Het
Dnah7b	T	C	1: 46,178,870 (GRCm39)	W848R	probably damaging	Het
Dnah7c	C	T	1: 46,572,368 (GRCm39)	T947M	probably damaging	Het
Dnmt3c	C	A	2: 153,556,872 (GRCm39)		probably null	Het
Dsp	A	T	13: 38,363,049 (GRCm39)	Y443F	probably damaging	Het
Espl1	T	A	15: 102,227,959 (GRCm39)	C1603*	probably null	Het
Faiml	G	T	9: 99,116,496 (GRCm39)	R65S	probably benign	Het
Gfpt2	T	C	11: 49,695,782 (GRCm39)	I4T	probably damaging	Het
Gm10376	T	A	14: 42,867,950 (GRCm39)	M179L	probably benign	Het
Gm4302	T	A	10: 100,177,589 (GRCm39)	M291K	unknown	Het
Gnb1l	T	A	16: 18,363,918 (GRCm39)	D154E	probably benign	Het
Igkv10-94	T	C	6: 68,681,727 (GRCm39)	R38G	possibly damaging	Het
Inmt	A	T	6: 55,148,013 (GRCm39)	Y205*	probably null	Het
Krba1	A	G	6: 48,393,233 (GRCm39)	Q1049R	probably benign	Het
Lpxn	T	A	19: 12,810,683 (GRCm39)	C376S	probably damaging	Het
Lrrc52	T	A	1: 167,294,019 (GRCm39)	I89F	probably damaging	Het
Map9	A	T	3: 82,270,765 (GRCm39)	T110S	probably benign	Het
Mff	T	A	1: 82,724,812 (GRCm39)	L203*	probably null	Het
Micall1	C	A	15: 78,993,624 (GRCm39)	D47E	unknown	Het
Mink1	T	C	11: 70,494,329 (GRCm39)	F243S	probably damaging	Het
Mlycd	C	T	8: 120,129,216 (GRCm39)	R228W	probably damaging	Het
Msr1	A	T	8: 40,042,465 (GRCm39)	V370E	possibly damaging	Het
Naip6	T	C	13: 100,436,927 (GRCm39)	E532G	probably damaging	Het
Nepn	G	A	10: 52,267,815 (GRCm39)	C27Y	probably damaging	Het
Ninl	T	C	2: 150,797,524 (GRCm39)	H592R	probably benign	Het
Nr4a2	A	G	2: 57,002,261 (GRCm39)	M64T	possibly damaging	Het
Oprm1	A	T	10: 6,780,203 (GRCm39)	I171F	possibly damaging	Het
Or4g16	T	A	2: 111,137,365 (GRCm39)	F272I	probably benign	Het
Or5p60	T	C	7: 107,723,781 (GRCm39)	K230E	probably damaging	Het
Pcbp1	A	T	6: 86,502,488 (GRCm39)	M137K	possibly damaging	Het
Pcf11	A	T	7: 92,306,524 (GRCm39)	S1215T	probably benign	Het
Pdlim5	A	T	3: 142,017,683 (GRCm39)		probably null	Het
Pecam1	T	C	11: 106,579,857 (GRCm39)	I402V	probably damaging	Het
Pex12	T	C	11: 83,188,468 (GRCm39)	T176A	probably benign	Het
Phf3	T	C	1: 30,870,190 (GRCm39)	K286R	possibly damaging	Het
Pik3ap1	T	A	19: 41,320,760 (GRCm39)	D153V	probably damaging	Het
Pkhd1l1	T	A	15: 44,448,374 (GRCm39)		probably null	Het
Plekhn1	A	G	4: 156,307,792 (GRCm39)	V378A	probably benign	Het
Pramel26	A	T	4: 143,537,233 (GRCm39)	L366Q	probably damaging	Het
Ptprm	A	T	17: 67,251,283 (GRCm39)	D531E	possibly damaging	Het
Pum2	A	T	12: 8,778,952 (GRCm39)	Q508L	possibly damaging	Het
Rad54l	A	G	4: 115,963,027 (GRCm39)	S324P	probably damaging	Het
Recql5	C	T	11: 115,821,498 (GRCm39)		probably null	Het
Reln	A	T	5: 22,181,594 (GRCm39)	V1763D	possibly damaging	Het
Rp1	T	C	1: 4,418,391 (GRCm39)	N907S	possibly damaging	Het
Scaf11	T	A	15: 96,318,209 (GRCm39)	N452Y	possibly damaging	Het
Scgb2b3	T	A	7: 31,059,639 (GRCm39)	H45L	possibly damaging	Het
Sim1	A	G	10: 50,772,023 (GRCm39)	T11A	probably damaging	Het
Slc5a12	T	A	2: 110,447,059 (GRCm39)	M189K	possibly damaging	Het
Slco2b1	C	T	7: 99,344,270 (GRCm39)	G10S	probably null	Het
Speer1j	C	T	5: 11,555,198 (GRCm39)	P83S	probably damaging	Het
Stxbp3	A	G	3: 108,708,071 (GRCm39)	L410P	probably damaging	Het
Sugct	T	C	13: 17,476,594 (GRCm39)	N297D	probably benign	Het
Syne1	A	G	10: 5,183,409 (GRCm39)	I4132T	probably benign	Het
Teddm1b	A	T	1: 153,750,912 (GRCm39)	L240F	probably damaging	Het
Tlr5	C	A	1: 182,803,088 (GRCm39)	D797E	possibly damaging	Het
Tmprss13	G	T	9: 45,249,643 (GRCm39)	G327C	probably damaging	Het
Tnrc18	G	T	5: 142,773,572 (GRCm39)	A419D		Het
Ttc28	T	C	5: 111,427,873 (GRCm39)	Y1790H	probably damaging	Het
Vmn1r125	T	G	7: 21,006,327 (GRCm39)	M75R	probably damaging	Het
Vwa3a	T	A	7: 120,372,253 (GRCm39)	D276E	possibly damaging	Het
Wdfy3	C	T	5: 102,063,303 (GRCm39)	V1322M	probably damaging	Het
Wdr11	T	C	7: 129,229,830 (GRCm39)	S872P	possibly damaging	Het
Zc3h13	T	C	14: 75,559,161 (GRCm39)	S357P	unknown	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
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
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'- TGTTGACACTTGTAATCATCAACTG -3'
(R):5'- CCTTATGGGATGACTCATAACATATC -3'

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

Posted On

2019-05-15