Mutagenetix > Incidental Mutation

Incidental Mutation 'R1466:Mccc1'

201144

Institutional Source

Beutler Lab

Gene Symbol

Mccc1

Ensembl Gene

ENSMUSG00000027709

Gene Name

methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)

Synonyms

1810045E08Rik, MCCA, MCCalpha, 2310058B18Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1466 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36013461-36054827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36028435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 457 (V457A)

Ref Sequence

ENSEMBL: ENSMUSP00000029259 (fasta)

Gene Model

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

AlphaFold

Q99MR8

Predicted Effect

probably benign
Transcript: ENSMUST00000029259
AA Change: V457A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000029259
Gene: ENSMUSG00000027709
AA Change: V457A

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: ENSMUST00000197580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199006

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: ENSMUST00000200163

SMART Domains

Protein: ENSMUSP00000143039
Gene: ENSMUSG00000027709

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: 96.7%
10x: 94.7%
20x: 90.4%

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: 134 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,520,536 (GRCm39)		probably benign	Het
Abcg8	G	C	17: 84,994,155 (GRCm39)		probably benign	Het
Abhd15	C	T	11: 77,406,236 (GRCm39)	A71V	probably damaging	Het
AC167973.1	A	T	9: 43,176,649 (GRCm39)		noncoding transcript	Het
Adamts12	T	C	15: 11,311,445 (GRCm39)	F1234S	probably benign	Het
Ahnak	A	G	19: 8,993,239 (GRCm39)	D4841G	probably damaging	Het
Akap13	T	C	7: 75,378,797 (GRCm39)	S2095P	possibly damaging	Het
Ampd2	T	C	3: 107,987,653 (GRCm39)		probably null	Het
Arhgef17	G	T	7: 100,578,866 (GRCm39)	P694Q	possibly damaging	Het
Arrdc1	T	C	2: 24,815,807 (GRCm39)	I398V	probably benign	Het
Ash1l	T	C	3: 88,959,372 (GRCm39)	Y2250H	probably damaging	Het
Aspg	A	G	12: 112,088,286 (GRCm39)	N385D	probably benign	Het
Atxn3	G	A	12: 101,892,758 (GRCm39)	R319C	possibly damaging	Het
Brca2	G	A	5: 150,475,723 (GRCm39)	A2478T	probably damaging	Het
Btrc	T	A	19: 45,501,821 (GRCm39)		probably benign	Het
C1s1	C	T	6: 124,508,090 (GRCm39)	C633Y	probably damaging	Het
C8g	C	T	2: 25,390,228 (GRCm39)	A6T	probably benign	Het
Capza2	T	C	6: 17,657,158 (GRCm39)		probably benign	Het
Cbl	A	T	9: 44,065,541 (GRCm39)	V706E	probably benign	Het
Ccdc121rt3	C	T	5: 112,502,630 (GRCm39)	G358D	probably benign	Het
Cenatac	A	T	9: 44,324,977 (GRCm39)		probably benign	Het
Cfhr1	C	T	1: 139,485,312 (GRCm39)	E45K	probably benign	Het
Chd7	G	A	4: 8,840,561 (GRCm39)		probably null	Het
Chek1	G	T	9: 36,637,153 (GRCm39)	A2E	probably damaging	Het
Clcn2	G	A	16: 20,531,302 (GRCm39)		probably benign	Het
Cndp2	G	A	18: 84,695,440 (GRCm39)		probably benign	Het
Cntnap1	C	A	11: 101,071,186 (GRCm39)	F366L	probably damaging	Het
Col5a1	G	T	2: 27,893,858 (GRCm39)		probably benign	Het
Corin	C	T	5: 72,460,133 (GRCm39)		probably null	Het
Crb2	T	C	2: 37,673,400 (GRCm39)	Y99H	probably damaging	Het
Csf3r	T	A	4: 125,925,725 (GRCm39)		probably benign	Het
Ctdspl2	G	A	2: 121,834,410 (GRCm39)	R332K	probably benign	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
Cym	G	A	3: 107,120,774 (GRCm39)	T277I	probably damaging	Het
Cyp2d11	C	T	15: 82,275,936 (GRCm39)	C215Y	probably benign	Het
Dido1	G	A	2: 180,304,121 (GRCm39)	P1261L	probably damaging	Het
Dnah10	T	A	5: 124,840,160 (GRCm39)	Y1265N	probably benign	Het
Dtx3l	G	A	16: 35,753,098 (GRCm39)	L503F	probably damaging	Het
Eda	T	A	X: 99,435,998 (GRCm39)		probably benign	Homo
Efhb	A	G	17: 53,744,206 (GRCm39)	F462L	probably damaging	Het
Enpep	T	A	3: 129,113,097 (GRCm39)	T203S	probably damaging	Het
Exd1	G	A	2: 119,351,215 (GRCm39)		probably benign	Het
Fam184b	G	A	5: 45,737,851 (GRCm39)		probably benign	Het
Fam20b	T	C	1: 156,513,758 (GRCm39)		probably benign	Het
Fat3	A	C	9: 16,286,778 (GRCm39)	V915G	probably damaging	Het
Fbln7	A	G	2: 128,719,349 (GRCm39)	T49A	probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Fgf14	T	A	14: 124,913,951 (GRCm39)	K60M	probably benign	Het
Galnt4	A	G	10: 98,944,571 (GRCm39)	R99G	probably benign	Het
Gimap4	C	A	6: 48,668,216 (GRCm39)	Q196K	probably benign	Het
Glcci1	C	T	6: 8,537,964 (GRCm39)	T6I	probably damaging	Het
Gm10110	A	T	14: 90,135,511 (GRCm39)		noncoding transcript	Het
Gm4884	A	G	7: 40,692,552 (GRCm39)	K174E	probably damaging	Het
Grip2	A	T	6: 91,765,424 (GRCm39)	D19E	probably damaging	Het
Grk4	T	C	5: 34,852,094 (GRCm39)	S113P	probably benign	Het
Hectd3	G	A	4: 116,853,763 (GRCm39)	E220K	probably damaging	Het
Helz2	G	A	2: 180,878,090 (GRCm39)	P903S	probably damaging	Het
Hydin	T	A	8: 111,259,585 (GRCm39)	V2519E	possibly damaging	Het
Igf2r	A	T	17: 12,936,156 (GRCm39)		probably benign	Het
Ints11	G	A	4: 155,972,567 (GRCm39)		probably null	Het
Kif1a	A	G	1: 92,982,651 (GRCm39)	W718R	possibly damaging	Het
Kif1b	A	T	4: 149,307,709 (GRCm39)	Y839N	probably damaging	Het
Kif20b	T	A	19: 34,927,999 (GRCm39)	V1047D	probably benign	Het
Klhl23	T	C	2: 69,664,232 (GRCm39)	I527T	probably damaging	Het
Klra10	T	A	6: 130,256,278 (GRCm39)	R125S	probably damaging	Het
Klra10	T	C	6: 130,256,394 (GRCm39)	N87D	probably damaging	Het
Lars1	G	A	18: 42,343,115 (GRCm39)	R1101C	probably damaging	Het
Lcn4	G	A	2: 26,558,588 (GRCm39)	P166L	probably damaging	Het
Letmd1	T	A	15: 100,370,423 (GRCm39)		probably null	Het
Lrrc27	A	G	7: 138,810,224 (GRCm39)		probably benign	Het
Map4k2	G	T	19: 6,391,947 (GRCm39)	W87L	probably damaging	Het
Mdn1	T	A	4: 32,730,788 (GRCm39)	S2886T	probably benign	Het
Mgat4a	A	T	1: 37,503,487 (GRCm39)		probably benign	Het
Mmp1b	A	T	9: 7,384,779 (GRCm39)		probably benign	Het
Mroh2b	G	T	15: 4,955,166 (GRCm39)	D720Y	probably damaging	Het
Mrpl24	T	A	3: 87,829,235 (GRCm39)	Y21*	probably null	Het
Mrps35	C	T	6: 146,957,482 (GRCm39)	T169M	probably damaging	Het
Mtcl1	T	A	17: 66,687,430 (GRCm39)	D492V	probably damaging	Het
Muc2	A	G	7: 141,302,711 (GRCm39)	Y457C	probably damaging	Het
Muc4	G	A	16: 32,574,886 (GRCm39)	G1157D	probably benign	Het
Myg1	T	A	15: 102,245,825 (GRCm39)	L275Q	probably damaging	Het
Naga	T	A	15: 82,218,989 (GRCm39)	M237L	probably null	Het
Nek1	C	T	8: 61,578,170 (GRCm39)		probably benign	Het
Oc90	T	A	15: 65,769,569 (GRCm39)	Y96F	probably damaging	Het
Or12d13	A	T	17: 37,647,847 (GRCm39)	L92H	probably benign	Het
Or13a18	A	G	7: 140,190,882 (GRCm39)	I268V	probably benign	Het
Or4a80	C	T	2: 89,582,611 (GRCm39)	C187Y	probably damaging	Het
Or5m11b	T	A	2: 85,806,339 (GRCm39)	F251I	probably damaging	Het
Or6ae1	A	G	7: 139,742,116 (GRCm39)	V249A	probably damaging	Het
Orc4	A	T	2: 48,799,506 (GRCm39)	C324S	possibly damaging	Het
Pald1	T	C	10: 61,184,304 (GRCm39)		probably benign	Het
Paox	A	G	7: 139,709,194 (GRCm39)		probably benign	Het
Pcdh10	T	G	3: 45,334,409 (GRCm39)	L241R	probably damaging	Het
Pdzrn4	T	C	15: 92,668,418 (GRCm39)	S857P	probably benign	Het
Plec	C	T	15: 76,070,108 (GRCm39)	E1000K	possibly damaging	Het
Plvap	A	T	8: 71,961,125 (GRCm39)	V149D	probably benign	Het
Ppef1	C	A	X: 159,408,670 (GRCm39)		probably null	Homo
Prkaa1	C	A	15: 5,208,279 (GRCm39)	P507T	probably benign	Het
Psmd2	A	G	16: 20,476,715 (GRCm39)		probably benign	Het
Ptch1	A	G	13: 63,672,783 (GRCm39)	Y804H	probably benign	Het
R3hdm2	A	G	10: 127,312,559 (GRCm39)	I434V	probably benign	Het
Rbm28	G	A	6: 29,155,016 (GRCm39)		probably benign	Het
Rfx5	T	A	3: 94,863,614 (GRCm39)	Y88N	probably damaging	Het
Rnase2b	A	T	14: 51,400,296 (GRCm39)	K126*	probably null	Het
Rpl3l	A	G	17: 24,949,845 (GRCm39)	I15V	probably benign	Het
Saal1	G	T	7: 46,351,969 (GRCm39)		probably null	Het
Sbpl	A	C	17: 24,172,228 (GRCm39)	D230E	unknown	Het
Scn10a	T	C	9: 119,495,556 (GRCm39)	Y322C	probably damaging	Het
Sec16a	A	T	2: 26,321,169 (GRCm39)	Y1308N	probably damaging	Het
Sis	A	T	3: 72,839,393 (GRCm39)	D824E	possibly damaging	Het
Slc25a36	A	G	9: 96,962,408 (GRCm39)	F194L	probably damaging	Het
Slc27a4	T	A	2: 29,701,202 (GRCm39)	V331E	probably damaging	Het
Slc7a11	G	T	3: 50,335,522 (GRCm39)		probably null	Het
Slco4c1	A	T	1: 96,768,897 (GRCm39)	S322T	probably damaging	Het
Smarcc2	A	T	10: 128,310,114 (GRCm39)	T376S	probably damaging	Het
Srebf1	C	T	11: 60,091,528 (GRCm39)	R999H	probably benign	Het
St3gal3	A	C	4: 117,964,859 (GRCm39)	M1R	probably null	Het
Syp	A	T	X: 7,514,944 (GRCm39)		probably benign	Homo
Tas1r2	A	G	4: 139,396,722 (GRCm39)	D687G	probably damaging	Het
Tekt4	A	T	17: 25,691,048 (GRCm39)	Q118L	probably benign	Het
Thoc2l	T	A	5: 104,666,123 (GRCm39)	I215N	probably damaging	Het
Tph2	T	C	10: 114,915,600 (GRCm39)	N480S	probably benign	Het
Tsc2	A	T	17: 24,827,947 (GRCm39)	M839K	probably damaging	Het
Ttc22	T	C	4: 106,479,977 (GRCm39)	F77S	probably damaging	Het
Uaca	C	T	9: 60,761,603 (GRCm39)	A205V	possibly damaging	Het
Ubp1	T	G	9: 113,773,903 (GRCm39)		probably benign	Het
Uhmk1	A	T	1: 170,036,222 (GRCm39)		probably null	Het
Usp17lc	A	G	7: 103,068,148 (GRCm39)	H481R	possibly damaging	Het
Vwa3a	A	G	7: 120,367,388 (GRCm39)	Y181C	probably damaging	Het
Wdr26	C	T	1: 181,013,499 (GRCm39)		probably benign	Het
Wfikkn2	G	A	11: 94,129,721 (GRCm39)	T140I	probably damaging	Het
Zfp704	G	T	3: 9,512,408 (GRCm39)	T288N	possibly damaging	Het
Zfp93	T	C	7: 23,975,521 (GRCm39)	V502A	probably damaging	Het
Zzef1	C	T	11: 72,815,505 (GRCm39)	P2942S	probably damaging	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
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
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'- TTTCTTGCTGAGTCAGAGAACACGG -3'
(R):5'- TTTCCCAGCATAAGCCAGTTAACCC -3'

Sequencing Primer
(F):5'- ACCTTGAGTGTGGAGTTTAAAAGC -3'
(R):5'- GCGGTACTATGTCCTATAGCCTG -3'

Posted On

2014-05-23