Mutagenetix > Incidental Mutation

Incidental Mutation 'R8701:Mccc1'

669041

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35959312-36000678 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35995784 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 86 (D86E)

Ref Sequence

ENSEMBL: ENSMUSP00000029259 (fasta)

Gene Model

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

AlphaFold

Q99MR8

Predicted Effect

probably benign
Transcript: ENSMUST00000029259
AA Change: D86E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029259
Gene: ENSMUSG00000027709
AA Change: D86E

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 benign
Transcript: ENSMUST00000199113
AA Change: D86E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143266
Gene: ENSMUSG00000027709
AA Change: D86E

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: 98.8%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	T	1: 26,685,445	V218D	probably benign	Het
Abcc4	T	C	14: 118,599,373	I659V	probably benign	Het
Adamtsl4	T	A	3: 95,684,966	D24V	possibly damaging	Het
Agtr1b	A	T	3: 20,316,092	F117I	probably damaging	Het
Aldh3b2	A	G	19: 3,978,448	E116G	probably damaging	Het
Alox5	T	A	6: 116,413,826	I455F	possibly damaging	Het
Arnt	C	T	3: 95,493,765	S675F	possibly damaging	Het
C330027C09Rik	T	A	16: 49,007,141	Y456*	probably null	Het
Camkv	A	G	9: 107,948,041	T414A	possibly damaging	Het
Cd209c	C	T	8: 3,945,892	R6H	probably benign	Het
Cnr1	A	G	4: 33,944,739	I376V	probably benign	Het
Cyp2j12	T	A	4: 96,121,573	K183M	possibly damaging	Het
Dact3	G	T	7: 16,885,276	R232L	probably damaging	Het
Dlg5	G	A	14: 24,176,700	T378M	probably benign	Het
Dnah10	T	A	5: 124,726,847	D79E	probably benign	Het
Dsc1	A	T	18: 20,107,682	Y195*	probably null	Het
Elovl1	A	T	4: 118,430,510	M1L	probably benign	Het
Fam107a	A	G	14: 8,298,755	F124L	probably damaging	Het
Fam219a	A	G	4: 41,520,283	M155T	probably damaging	Het
Gm28308	C	G	6: 52,163,450		probably benign	Het
Gpr153	C	T	4: 152,279,101		probably benign	Het
Gtf2ird2	T	A	5: 134,216,235	I445N	probably damaging	Het
Gzmb	A	T	14: 56,260,360	V141E	probably benign	Het
Hmcn1	A	T	1: 150,755,257	M930K	probably benign	Het
Hunk	T	A	16: 90,386,610	F52Y	probably damaging	Het
Il18rap	A	G	1: 40,539,341	E304G	probably benign	Het
Klk14	A	G	7: 43,694,142	S133G	possibly damaging	Het
Man2b1	T	C	8: 85,095,153	S695P	probably damaging	Het
Mcu	T	A	10: 59,467,653	I121F	probably damaging	Het
Mlxipl	T	C	5: 135,107,191	F90S	possibly damaging	Het
Muc2	A	G	7: 141,695,607	D536G	probably damaging	Het
Naa11	T	C	5: 97,391,958	S114G	possibly damaging	Het
Ncaph	T	C	2: 127,106,138	K676E	probably benign	Het
Neurl2	C	T	2: 164,833,134	D103N	probably benign	Het
Nup210l	T	C	3: 90,122,814	M278T	probably benign	Het
Olfr1192-ps1	A	G	2: 88,652,487	I112V	possibly damaging	Het
Olfr550	A	T	7: 102,578,692	M66L	possibly damaging	Het
Olfr897-ps1	A	T	9: 38,309,438	L214F	unknown	Het
Olfr967	A	T	9: 39,750,914	H176L	probably damaging	Het
Olfr981	A	G	9: 40,022,519	N42S	probably damaging	Het
Pcdh20	A	T	14: 88,468,413	Y484N	possibly damaging	Het
Pkhd1l1	A	G	15: 44,574,683	Y3598C	probably damaging	Het
Plcg2	T	A	8: 117,581,677	L336Q	probably damaging	Het
Ppp1r8	T	C	4: 132,830,642	D207G	possibly damaging	Het
Prdm13	C	T	4: 21,678,615	C625Y	probably damaging	Het
Ptcd3	T	C	6: 71,885,511	D480G	possibly damaging	Het
Rbm39	T	A	2: 156,161,587	K291M	probably damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rnf220	T	C	4: 117,489,993	H74R	probably damaging	Het
Sp6	A	T	11: 97,022,264	T268S	probably damaging	Het
Sphk2	A	T	7: 45,710,825	V585E	probably damaging	Het
Syne1	G	A	10: 5,205,026	Q5638*	probably null	Het
Tas1r3	C	T	4: 155,861,046	V573I	probably benign	Het
Tdrd1	T	C	19: 56,851,484	S659P	possibly damaging	Het
Tead4	T	A	6: 128,242,566	K237N	probably damaging	Het
Tex24	T	A	8: 27,345,124	C227S	probably benign	Het
Tom1	A	T	8: 75,052,168	T174S	probably benign	Het
Tpm3	C	T	3: 90,087,680	R168C	possibly damaging	Het
Trpv3	A	G	11: 73,278,936	E111G	possibly damaging	Het
Unc80	A	G	1: 66,638,032	D2040G	possibly damaging	Het
Usp47	A	G	7: 112,093,195	T955A	probably damaging	Het
Vmn2r11	G	A	5: 109,047,690	A590V	probably damaging	Het
Wisp2	G	T	2: 163,828,866	G98W	probably damaging	Het
Zfp112	A	G	7: 24,125,740	R382G	probably damaging	Het
Zfp606	T	A	7: 12,481,098	D84E	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
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
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'- CTTGTTGACACTTGTAATCATCAACTG -3'
(R):5'- CCTTATGGGATGACTCATAACATATC -3'

Sequencing Primer
(F):5'- TGACTCCGTAGTTAAGAGCACTG -3'
(R):5'- AGGAGAAATTGCCTGCAG -3'

Posted On

2021-04-30