Mutagenetix > Incidental Mutation

Incidental Mutation 'R7940:Acacb'

648995

Institutional Source

Beutler Lab

Gene Symbol

Acacb

Ensembl Gene

ENSMUSG00000042010

Gene Name

acetyl-Coenzyme A carboxylase beta

Synonyms

Acc2, Accb

MMRRC Submission

045986-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7940 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114284748-114388822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 114304108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 177 (S177F)

Ref Sequence

ENSEMBL: ENSMUSP00000031583 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031583] [ENSMUST00000102582]

AlphaFold

E9Q4Z2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031583
AA Change: S177F

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031583
Gene: ENSMUSG00000042010
AA Change: S177F

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
low complexity region	38	60	N/A	INTRINSIC
Pfam:CPSase_L_chain	249	369	2.1e-32	PFAM
Pfam:CPSase_L_D2	405	606	3.3e-52	PFAM
Pfam:ATP-grasp_4	413	576	2.1e-9	PFAM
Biotin_carb_C	640	747	9.54e-26	SMART
Pfam:Biotin_lipoyl	885	951	1.9e-17	PFAM
Pfam:ACC_central	952	1678	2.2e-290	PFAM
Pfam:Carboxyl_trans	1770	2324	2.3e-181	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102582
AA Change: S177F

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099642
Gene: ENSMUSG00000042010
AA Change: S177F

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
low complexity region	38	60	N/A	INTRINSIC
Pfam:CPSase_L_chain	249	369	8.2e-29	PFAM
Pfam:CPSase_L_D2	405	606	3.8e-52	PFAM
Pfam:ATP-grasp_4	409	576	1.4e-12	PFAM
Biotin_carb_C	640	747	9.54e-26	SMART
Pfam:Biotin_lipoyl	885	951	9.1e-17	PFAM
Pfam:ACC_central	952	1678	2.3e-250	PFAM
Pfam:Carboxyl_trans	1770	2324	4.8e-172	PFAM

Meta Mutation Damage Score

0.1380

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (56/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. There is evidence for the presence of two ACC-beta isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable, fertile and overtly normal but exhibit high levels of fatty acid oxidation, as well as reduced fat accumulation in their adipose tissue and liver, and decreased storage of glycogen in their liver. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 130,952,767 (GRCm39)	M238T	probably benign	Het
Afap1l2	A	G	19: 56,902,597 (GRCm39)	V822A	probably damaging	Het
Alpk3	C	T	7: 80,743,693 (GRCm39)	P1170L	probably damaging	Het
Aox3	A	G	1: 58,227,596 (GRCm39)	I1234V	probably damaging	Het
Ascc1	G	A	10: 59,848,381 (GRCm39)	V103M	probably null	Het
Brca2	C	G	5: 150,462,198 (GRCm39)	T654S	probably benign	Het
Cblb	T	C	16: 51,972,899 (GRCm39)	F410S	probably damaging	Het
Cep95	T	A	11: 106,686,974 (GRCm39)	N94K	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cpe	T	A	8: 65,047,945 (GRCm39)	S440C	probably damaging	Het
Cspg4	C	T	9: 56,795,381 (GRCm39)	Q1039*	probably null	Het
Cul5	A	T	9: 53,535,069 (GRCm39)	S612T	probably benign	Het
Dapl1	T	C	2: 59,315,112 (GRCm39)		probably null	Het
Deptor	C	T	15: 55,072,244 (GRCm39)	T241M	probably benign	Het
Dnaaf1	A	G	8: 120,309,454 (GRCm39)	T181A	possibly damaging	Het
Dnajc11	G	T	4: 152,053,045 (GRCm39)	Q156H	probably benign	Het
Dst	T	C	1: 34,206,757 (GRCm39)	V975A	possibly damaging	Het
Elf3	T	A	1: 135,184,866 (GRCm39)	S107C	probably damaging	Het
Enpp2	T	A	15: 54,770,324 (GRCm39)	D105V	probably damaging	Het
Fgd6	G	A	10: 93,956,344 (GRCm39)	V1008I	probably benign	Het
Frmpd2	C	T	14: 33,276,850 (GRCm39)	R1157*	probably null	Het
Gabrg2	A	C	11: 41,858,474 (GRCm39)	V218G	probably benign	Het
Gdpgp1	C	T	7: 79,888,953 (GRCm39)	A328V	probably damaging	Het
Glis1	C	G	4: 107,489,571 (GRCm39)	F719L	probably damaging	Het
Glis1	A	T	4: 107,489,572 (GRCm39)	N720Y	probably damaging	Het
Grin2c	G	T	11: 115,146,107 (GRCm39)	A546D	probably damaging	Het
Gtf3c5	G	A	2: 28,458,592 (GRCm39)	T433I	possibly damaging	Het
Jmjd6	C	A	11: 116,734,055 (GRCm39)		probably benign	Het
Kctd14	T	C	7: 97,106,891 (GRCm39)	S49P	probably damaging	Het
Lamc2	T	A	1: 153,006,521 (GRCm39)	K877*	probably null	Het
Lgr4	T	A	2: 109,836,858 (GRCm39)	S397R	probably damaging	Het
Lrp2	A	T	2: 69,262,541 (GRCm39)	I4420N	possibly damaging	Het
Lyn	A	G	4: 3,783,089 (GRCm39)	K441E	possibly damaging	Het
Minpp1	A	T	19: 32,463,359 (GRCm39)	S7C	possibly damaging	Het
Mrps9	T	A	1: 42,901,808 (GRCm39)	D105E	probably damaging	Het
Ncoa1	C	A	12: 4,363,095 (GRCm39)	A247S	possibly damaging	Het
Or52b4i	G	A	7: 102,191,515 (GRCm39)	R124H	possibly damaging	Het
Or8c15	T	C	9: 38,120,496 (GRCm39)	V47A	probably benign	Het
Pabir1	G	A	19: 24,454,552 (GRCm39)	R57W	probably benign	Het
Pakap	A	G	4: 57,883,026 (GRCm39)	K790E	probably damaging	Het
Pcdh15	G	A	10: 74,430,022 (GRCm39)	V1250I	probably damaging	Het
Pcdha12	A	T	18: 37,153,409 (GRCm39)	T43S	probably damaging	Het
Pkn2	G	A	3: 142,516,480 (GRCm39)	R549C	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Polq	T	A	16: 36,881,004 (GRCm39)	M1056K	probably benign	Het
Ppp1r12b	A	T	1: 134,803,793 (GRCm39)	N455K	probably benign	Het
Rhbdf1	T	A	11: 32,166,258 (GRCm39)	M1L	possibly damaging	Het
Rspry1	G	T	8: 95,349,635 (GRCm39)	V8L	probably benign	Het
Slc6a20b	A	G	9: 123,436,666 (GRCm39)	V249A	probably damaging	Het
Smok2b	A	T	17: 13,455,046 (GRCm39)	H402L	possibly damaging	Het
Supt20	A	T	3: 54,620,620 (GRCm39)	N393I	probably benign	Het
Tcp11l1	T	C	2: 104,528,993 (GRCm39)	K102E	probably damaging	Het
Tpbgl	T	C	7: 99,274,798 (GRCm39)	Y353C	probably damaging	Het
Usp24	A	T	4: 106,287,741 (GRCm39)	Q2465L	probably damaging	Het
Vmn2r116	T	A	17: 23,605,946 (GRCm39)	M286K	probably damaging	Het
Wnt16	C	A	6: 22,291,188 (GRCm39)	N205K	possibly damaging	Het
Xkr7	C	A	2: 152,874,135 (GRCm39)	F67L	probably damaging	Het
Zfp473	T	G	7: 44,384,000 (GRCm39)	E111A	probably damaging	Het
Zfp74	T	C	7: 29,631,867 (GRCm39)	K126E	probably benign	Het

Other mutations in Acacb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Acacb	APN	5	114,338,350 (GRCm39)	missense	probably damaging	1.00
IGL01291:Acacb	APN	5	114,363,931 (GRCm39)	missense	probably benign	0.03
IGL01301:Acacb	APN	5	114,384,559 (GRCm39)	missense	probably benign
IGL01633:Acacb	APN	5	114,356,919 (GRCm39)	splice site	probably benign
IGL01736:Acacb	APN	5	114,326,503 (GRCm39)	missense	possibly damaging	0.96
IGL01782:Acacb	APN	5	114,338,581 (GRCm39)	missense	probably damaging	1.00
IGL01924:Acacb	APN	5	114,362,047 (GRCm39)	splice site	probably benign
IGL01933:Acacb	APN	5	114,322,251 (GRCm39)	splice site	probably benign
IGL02028:Acacb	APN	5	114,304,076 (GRCm39)	missense	probably damaging	1.00
IGL02045:Acacb	APN	5	114,378,721 (GRCm39)	missense	possibly damaging	0.95
IGL02346:Acacb	APN	5	114,376,760 (GRCm39)	missense	probably damaging	1.00
IGL02421:Acacb	APN	5	114,361,939 (GRCm39)	missense	probably benign	0.00
IGL02445:Acacb	APN	5	114,383,198 (GRCm39)	missense	probably damaging	1.00
IGL02491:Acacb	APN	5	114,330,166 (GRCm39)	missense	probably damaging	1.00
IGL02598:Acacb	APN	5	114,384,098 (GRCm39)	missense	probably damaging	1.00
IGL02700:Acacb	APN	5	114,356,942 (GRCm39)	missense	probably damaging	1.00
IGL02730:Acacb	APN	5	114,304,210 (GRCm39)	splice site	probably benign
IGL03110:Acacb	APN	5	114,333,295 (GRCm39)	missense	probably damaging	0.96
IGL03125:Acacb	APN	5	114,342,866 (GRCm39)	missense	possibly damaging	0.49
IGL03263:Acacb	APN	5	114,351,754 (GRCm39)	missense	probably damaging	1.00
IGL03324:Acacb	APN	5	114,363,915 (GRCm39)	nonsense	probably null
acetone	UTSW	5	114,364,918 (GRCm39)	nonsense	probably null
anabolism	UTSW	5	114,383,281 (GRCm39)	missense	possibly damaging	0.63
ANU05:Acacb	UTSW	5	114,363,931 (GRCm39)	missense	probably benign	0.03
ANU18:Acacb	UTSW	5	114,384,559 (GRCm39)	missense	probably benign
BB001:Acacb	UTSW	5	114,383,281 (GRCm39)	missense	possibly damaging	0.63
BB011:Acacb	UTSW	5	114,383,281 (GRCm39)	missense	possibly damaging	0.63
I0000:Acacb	UTSW	5	114,376,716 (GRCm39)	missense	probably damaging	0.99
R0001:Acacb	UTSW	5	114,342,894 (GRCm39)	splice site	probably benign
R0219:Acacb	UTSW	5	114,371,005 (GRCm39)	missense	possibly damaging	0.79
R0234:Acacb	UTSW	5	114,347,878 (GRCm39)	missense	probably damaging	0.99
R0234:Acacb	UTSW	5	114,347,878 (GRCm39)	missense	probably damaging	0.99
R0278:Acacb	UTSW	5	114,371,320 (GRCm39)	nonsense	probably null
R0607:Acacb	UTSW	5	114,338,362 (GRCm39)	missense	probably damaging	1.00
R0964:Acacb	UTSW	5	114,367,813 (GRCm39)	missense	possibly damaging	0.64
R1116:Acacb	UTSW	5	114,349,017 (GRCm39)	missense	probably damaging	1.00
R1196:Acacb	UTSW	5	114,383,153 (GRCm39)	missense	probably benign	0.00
R1204:Acacb	UTSW	5	114,328,214 (GRCm39)	missense	probably damaging	1.00
R1387:Acacb	UTSW	5	114,338,573 (GRCm39)	missense	probably benign
R1415:Acacb	UTSW	5	114,303,982 (GRCm39)	missense	probably benign
R1475:Acacb	UTSW	5	114,333,313 (GRCm39)	missense	possibly damaging	0.87
R1497:Acacb	UTSW	5	114,334,868 (GRCm39)	missense	probably damaging	1.00
R1520:Acacb	UTSW	5	114,340,001 (GRCm39)	missense	possibly damaging	0.67
R1591:Acacb	UTSW	5	114,341,484 (GRCm39)	missense	possibly damaging	0.87
R1644:Acacb	UTSW	5	114,333,346 (GRCm39)	missense	probably damaging	1.00
R1732:Acacb	UTSW	5	114,328,148 (GRCm39)	missense	possibly damaging	0.63
R1783:Acacb	UTSW	5	114,347,828 (GRCm39)	frame shift	probably null
R1784:Acacb	UTSW	5	114,347,828 (GRCm39)	frame shift	probably null
R1834:Acacb	UTSW	5	114,373,536 (GRCm39)	missense	probably damaging	1.00
R1858:Acacb	UTSW	5	114,334,770 (GRCm39)	missense	probably benign	0.13
R1886:Acacb	UTSW	5	114,357,020 (GRCm39)	missense	probably damaging	1.00
R1901:Acacb	UTSW	5	114,303,795 (GRCm39)	nonsense	probably null
R1902:Acacb	UTSW	5	114,303,795 (GRCm39)	nonsense	probably null
R1903:Acacb	UTSW	5	114,303,795 (GRCm39)	nonsense	probably null
R1924:Acacb	UTSW	5	114,368,781 (GRCm39)	missense	possibly damaging	0.67
R1934:Acacb	UTSW	5	114,336,343 (GRCm39)	missense	probably benign	0.27
R2051:Acacb	UTSW	5	114,383,951 (GRCm39)	missense	probably damaging	1.00
R2132:Acacb	UTSW	5	114,347,828 (GRCm39)	frame shift	probably null
R2133:Acacb	UTSW	5	114,347,828 (GRCm39)	frame shift	probably null
R2260:Acacb	UTSW	5	114,354,978 (GRCm39)	missense	probably damaging	0.99
R2967:Acacb	UTSW	5	114,304,131 (GRCm39)	missense	possibly damaging	0.81
R3421:Acacb	UTSW	5	114,350,697 (GRCm39)	splice site	probably null
R3729:Acacb	UTSW	5	114,345,409 (GRCm39)	missense	probably damaging	0.99
R4206:Acacb	UTSW	5	114,351,712 (GRCm39)	missense	probably benign
R4245:Acacb	UTSW	5	114,368,845 (GRCm39)	missense	probably damaging	0.97
R4386:Acacb	UTSW	5	114,379,982 (GRCm39)	critical splice acceptor site	probably null
R4439:Acacb	UTSW	5	114,384,557 (GRCm39)	missense	possibly damaging	0.50
R4577:Acacb	UTSW	5	114,364,892 (GRCm39)	missense	probably damaging	1.00
R4658:Acacb	UTSW	5	114,338,625 (GRCm39)	missense	probably damaging	0.96
R4688:Acacb	UTSW	5	114,342,824 (GRCm39)	missense	probably benign	0.01
R4720:Acacb	UTSW	5	114,367,975 (GRCm39)	missense	possibly damaging	0.73
R4898:Acacb	UTSW	5	114,370,999 (GRCm39)	missense	probably benign	0.04
R5044:Acacb	UTSW	5	114,304,088 (GRCm39)	missense	probably benign	0.03
R5070:Acacb	UTSW	5	114,384,089 (GRCm39)	missense	possibly damaging	0.46
R5294:Acacb	UTSW	5	114,380,013 (GRCm39)	missense	probably damaging	1.00
R5350:Acacb	UTSW	5	114,382,612 (GRCm39)	missense	probably damaging	1.00
R5401:Acacb	UTSW	5	114,347,914 (GRCm39)	missense	possibly damaging	0.80
R5531:Acacb	UTSW	5	114,342,767 (GRCm39)	missense	possibly damaging	0.92
R5542:Acacb	UTSW	5	114,333,798 (GRCm39)	missense	probably damaging	1.00
R5751:Acacb	UTSW	5	114,368,893 (GRCm39)	missense	possibly damaging	0.79
R5821:Acacb	UTSW	5	114,322,167 (GRCm39)	missense	possibly damaging	0.69
R5893:Acacb	UTSW	5	114,367,912 (GRCm39)	missense	probably benign	0.01
R5911:Acacb	UTSW	5	114,370,951 (GRCm39)	missense	probably damaging	0.97
R5944:Acacb	UTSW	5	114,384,041 (GRCm39)	missense	probably damaging	1.00
R5973:Acacb	UTSW	5	114,364,928 (GRCm39)	missense	probably damaging	1.00
R6027:Acacb	UTSW	5	114,303,661 (GRCm39)	missense	probably benign	0.43
R6103:Acacb	UTSW	5	114,383,942 (GRCm39)	missense	probably damaging	1.00
R6139:Acacb	UTSW	5	114,350,713 (GRCm39)	missense	probably damaging	1.00
R6292:Acacb	UTSW	5	114,338,312 (GRCm39)	missense	probably damaging	1.00
R6368:Acacb	UTSW	5	114,354,884 (GRCm39)	missense	probably damaging	0.98
R6429:Acacb	UTSW	5	114,366,652 (GRCm39)	missense	probably damaging	1.00
R6942:Acacb	UTSW	5	114,330,024 (GRCm39)	critical splice donor site	probably null
R7138:Acacb	UTSW	5	114,345,387 (GRCm39)	missense	probably benign	0.12
R7241:Acacb	UTSW	5	114,383,161 (GRCm39)	missense	possibly damaging	0.94
R7254:Acacb	UTSW	5	114,347,812 (GRCm39)	critical splice acceptor site	probably null
R7396:Acacb	UTSW	5	114,351,722 (GRCm39)	missense	possibly damaging	0.87
R7439:Acacb	UTSW	5	114,333,703 (GRCm39)	missense	possibly damaging	0.84
R7484:Acacb	UTSW	5	114,356,923 (GRCm39)	missense	probably damaging	1.00
R7585:Acacb	UTSW	5	114,384,073 (GRCm39)	missense	probably damaging	0.99
R7712:Acacb	UTSW	5	114,303,799 (GRCm39)	missense	probably benign	0.13
R7868:Acacb	UTSW	5	114,386,288 (GRCm39)	missense	probably benign	0.22
R7873:Acacb	UTSW	5	114,361,339 (GRCm39)	missense	possibly damaging	0.88
R7924:Acacb	UTSW	5	114,383,281 (GRCm39)	missense	possibly damaging	0.63
R7951:Acacb	UTSW	5	114,326,401 (GRCm39)	missense	probably damaging	1.00
R7960:Acacb	UTSW	5	114,368,922 (GRCm39)	missense	probably benign	0.00
R7972:Acacb	UTSW	5	114,364,918 (GRCm39)	nonsense	probably null
R8007:Acacb	UTSW	5	114,356,935 (GRCm39)	missense	probably damaging	0.97
R8022:Acacb	UTSW	5	114,361,915 (GRCm39)	missense	probably benign
R8030:Acacb	UTSW	5	114,371,228 (GRCm39)	missense	probably damaging	1.00
R8241:Acacb	UTSW	5	114,333,297 (GRCm39)	missense	possibly damaging	0.49
R8264:Acacb	UTSW	5	114,345,427 (GRCm39)	missense	probably benign	0.00
R8292:Acacb	UTSW	5	114,338,555 (GRCm39)	critical splice acceptor site	probably null
R8678:Acacb	UTSW	5	114,340,032 (GRCm39)	nonsense	probably null
R8693:Acacb	UTSW	5	114,364,844 (GRCm39)	missense	probably damaging	0.99
R8697:Acacb	UTSW	5	114,351,441 (GRCm39)	missense	probably damaging	0.96
R8772:Acacb	UTSW	5	114,322,179 (GRCm39)	missense	possibly damaging	0.73
R8918:Acacb	UTSW	5	114,333,315 (GRCm39)	missense	probably damaging	1.00
R9008:Acacb	UTSW	5	114,386,815 (GRCm39)	splice site	silent
R9044:Acacb	UTSW	5	114,373,578 (GRCm39)	missense	probably benign	0.00
R9165:Acacb	UTSW	5	114,354,744 (GRCm39)	missense	probably benign	0.01
R9231:Acacb	UTSW	5	114,349,153 (GRCm39)	missense	probably benign	0.01
R9440:Acacb	UTSW	5	114,384,085 (GRCm39)	missense	possibly damaging	0.56
R9444:Acacb	UTSW	5	114,384,020 (GRCm39)	missense	probably damaging	0.99
R9562:Acacb	UTSW	5	114,371,397 (GRCm39)	missense	probably damaging	0.99
R9794:Acacb	UTSW	5	114,387,578 (GRCm39)	missense	probably benign	0.00
V1662:Acacb	UTSW	5	114,376,769 (GRCm39)	missense	probably damaging	1.00
Z1176:Acacb	UTSW	5	114,387,009 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AGATGCTAATGGGTTGTCCTTC -3'
(R):5'- ATGGCTTCTAACACACATGCG -3'

Sequencing Primer
(F):5'- GTTGTCCTTCCCAGCCAGG -3'
(R):5'- CACACATGCGTTAGAAGATCAG -3'

Posted On

2020-09-15