Mutagenetix > Incidental Mutation

Incidental Mutation 'R5044:Acacb'

394249

Institutional Source

Beutler Lab

Gene Symbol

Acacb

Ensembl Gene

ENSMUSG00000042010

Gene Name

acetyl-Coenzyme A carboxylase beta

Synonyms

Acc2, Accb

MMRRC Submission

042634-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5044 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114284748-114388822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114304088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 170 (S170R)

Ref Sequence

ENSEMBL: ENSMUSP00000099642 (fasta)

Gene Model

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

AlphaFold

E9Q4Z2

Predicted Effect

probably benign
Transcript: ENSMUST00000031583
AA Change: S170R

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000031583
Gene: ENSMUSG00000042010
AA Change: S170R

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

probably benign
Transcript: ENSMUST00000102582
AA Change: S170R

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000099642
Gene: ENSMUSG00000042010
AA Change: S170R

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

96% (73/76)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,323,323 (GRCm39)	F3387I	possibly damaging	Het
Adamtsl4	A	G	3: 95,588,960 (GRCm39)		probably null	Het
Adgrv1	A	G	13: 81,637,050 (GRCm39)	C3464R	probably benign	Het
Apbb1	A	T	7: 105,214,889 (GRCm39)		probably benign	Het
Cad	A	G	5: 31,212,365 (GRCm39)	T23A	probably benign	Het
Cdca7	A	G	2: 72,313,759 (GRCm39)	R183G	probably benign	Het
Cdpf1	T	C	15: 85,693,513 (GRCm39)	T5A	probably benign	Het
Cep85	T	C	4: 133,883,490 (GRCm39)	D133G	probably damaging	Het
Chrna9	T	C	5: 66,128,359 (GRCm39)	L189P	probably damaging	Het
Clca3a1	A	C	3: 144,713,689 (GRCm39)		probably null	Het
Cntn1	G	T	15: 92,140,876 (GRCm39)	V201F	probably damaging	Het
Col4a3	A	G	1: 82,644,267 (GRCm39)	E352G	unknown	Het
Ddhd2	T	C	8: 26,242,164 (GRCm39)	Y237C	probably damaging	Het
Dnah6	A	C	6: 73,014,605 (GRCm39)	F3609V	probably benign	Het
Epha3	T	C	16: 63,422,650 (GRCm39)	K580R	possibly damaging	Het
Fam135b	T	C	15: 71,334,560 (GRCm39)	N878S	probably benign	Het
Fbn1	T	G	2: 125,171,022 (GRCm39)	T1938P	probably damaging	Het
Foxg1	T	C	12: 49,431,969 (GRCm39)	V234A	probably damaging	Het
Garin5b	T	C	7: 4,761,660 (GRCm39)	N351D	probably benign	Het
Glt1d1	A	T	5: 127,721,478 (GRCm39)	N55I	probably benign	Het
Gm17641	C	A	3: 68,776,807 (GRCm39)		probably benign	Het
Gm7665	A	G	18: 16,407,788 (GRCm39)		noncoding transcript	Het
Hgf	A	C	5: 16,819,892 (GRCm39)	N541T	probably benign	Het
Hipk2	G	A	6: 38,795,814 (GRCm39)	P152S	probably benign	Het
Jarid2	C	T	13: 45,060,041 (GRCm39)	L720F	probably damaging	Het
Kifc5b	A	G	17: 27,143,761 (GRCm39)	E511G	probably damaging	Het
Ldlr	G	A	9: 21,646,538 (GRCm39)	A235T	probably benign	Het
Lmln	A	G	16: 32,894,550 (GRCm39)	D231G	possibly damaging	Het
Lrp1	A	G	10: 127,403,364 (GRCm39)	C2070R	probably damaging	Het
Mbl1	A	G	14: 40,880,681 (GRCm39)	T190A	possibly damaging	Het
Mpdz	A	T	4: 81,299,934 (GRCm39)	S355T	probably benign	Het
Muc19	C	T	15: 91,772,332 (GRCm39)		noncoding transcript	Het
Mycbp2	A	C	14: 103,376,671 (GRCm39)		probably null	Het
Naa20	T	C	2: 145,757,762 (GRCm39)	S164P	probably damaging	Het
Nme4	A	T	17: 26,312,807 (GRCm39)		probably benign	Het
Npas2	A	T	1: 39,386,587 (GRCm39)	R619*	probably null	Het
Nudt19	G	A	7: 35,255,171 (GRCm39)	T20I	possibly damaging	Het
Or4c119	T	A	2: 88,987,283 (GRCm39)	K79*	probably null	Het
Or5b97	A	G	19: 12,878,365 (GRCm39)	Y260H	probably damaging	Het
Pitpnc1	A	G	11: 107,187,054 (GRCm39)	Y90H	possibly damaging	Het
Rcor2	A	G	19: 7,247,150 (GRCm39)	T6A	probably benign	Het
Rif1	T	A	2: 51,999,940 (GRCm39)	S1131R	probably damaging	Het
Rtkn	T	A	6: 83,127,972 (GRCm39)	D377E	probably benign	Het
Rtn4rl2	T	A	2: 84,702,846 (GRCm39)	N242I	probably damaging	Het
Sbno2	G	A	10: 79,898,022 (GRCm39)	L719F	probably benign	Het
Scn11a	G	T	9: 119,648,897 (GRCm39)	D55E	probably damaging	Het
Setd1b	T	A	5: 123,289,929 (GRCm39)	I632N	unknown	Het
Spaca6	A	G	17: 18,051,458 (GRCm39)	T45A	probably benign	Het
Srpk2	A	T	5: 23,729,390 (GRCm39)	D416E	possibly damaging	Het
Sspo	A	T	6: 48,443,889 (GRCm39)		probably null	Het
Sycp1	A	T	3: 102,752,370 (GRCm39)	I804N	probably benign	Het
Tdp2	G	A	13: 25,015,809 (GRCm39)	R32Q	probably benign	Het
Tgfbr3	A	G	5: 107,284,795 (GRCm39)	V618A	possibly damaging	Het
Tmc3	C	T	7: 83,258,326 (GRCm39)	P439S	probably benign	Het
Tnxb	A	T	17: 34,936,457 (GRCm39)	D2740V	probably damaging	Het
Tspyl4	A	G	10: 34,173,933 (GRCm39)	T142A	probably benign	Het
Ttn	T	C	2: 76,710,785 (GRCm39)		probably benign	Het
Tubgcp4	T	C	2: 121,004,061 (GRCm39)	L34P	probably damaging	Het
Tubgcp6	G	T	15: 88,983,748 (GRCm39)		probably benign	Het
Unc79	T	A	12: 103,078,962 (GRCm39)	V1690E	probably benign	Het
Vps4b	T	C	1: 106,724,148 (GRCm39)		probably null	Het
Wtap	A	G	17: 13,186,525 (GRCm39)	S341P	possibly damaging	Het
Wwc1	T	C	11: 35,774,172 (GRCm39)	T363A	probably benign	Het
Zbtb8a	G	A	4: 129,254,293 (GRCm39)	T67M	probably damaging	Het
Zfp865	T	C	7: 5,037,668 (GRCm39)		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
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
R7940:Acacb	UTSW	5	114,304,108 (GRCm39)	missense	possibly damaging	0.77
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'- GTCTTCCAATGACACCTGGC -3'
(R):5'- ATCCCGCTGCAAAATCAGAG -3'

Sequencing Primer
(F):5'- ATGACACCTGGCCCTCC -3'
(R):5'- TGCAAAATCAGAGATACAAACCTTAC -3'

Posted On

2016-06-15