Mutagenetix > Incidental Mutation

Incidental Mutation 'R7484:Acacb'

579991

Institutional Source

Beutler Lab

Gene Symbol

Acacb

Ensembl Gene

ENSMUSG00000042010

Gene Name

acetyl-Coenzyme A carboxylase beta

Synonyms

Acc2, Accb

MMRRC Submission

045558-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7484 (G1)

Quality Score

220.009

Status

Validated

Chromosome

Chromosomal Location

114284748-114388822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 114356923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1285 (V1285I)

Ref Sequence

ENSEMBL: ENSMUSP00000031583 (fasta)

Gene Model

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

AlphaFold

E9Q4Z2

Predicted Effect

probably damaging
Transcript: ENSMUST00000031583
AA Change: V1285I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031583
Gene: ENSMUSG00000042010
AA Change: V1285I

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 damaging
Transcript: ENSMUST00000102582
AA Change: V1285I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099642
Gene: ENSMUSG00000042010
AA Change: V1285I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (65/66)

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
Aadacl4fm5	A	G	4: 144,504,521 (GRCm39)	L210P	probably damaging	Het
Acly	A	T	11: 100,386,789 (GRCm39)	I591N	probably damaging	Het
Acr	T	A	15: 89,457,427 (GRCm39)	V225E	probably damaging	Het
Actr8	A	G	14: 29,714,925 (GRCm39)	D580G	probably damaging	Het
Adamts12	C	A	15: 11,345,734 (GRCm39)	Q1592K	probably benign	Het
Aire	T	C	10: 77,878,404 (GRCm39)	E138G	probably damaging	Het
Apob	C	T	12: 8,056,884 (GRCm39)	Q1789*	probably null	Het
Cbx5	A	C	15: 103,114,256 (GRCm39)		probably null	Het
Cd300lb	A	T	11: 114,819,345 (GRCm39)	W95R	probably damaging	Het
Cdc16	A	G	8: 13,827,605 (GRCm39)	T504A	probably benign	Het
Cenpf	A	G	1: 189,389,018 (GRCm39)	S1605P	probably damaging	Het
Ckap2l	A	G	2: 129,114,455 (GRCm39)	V596A	possibly damaging	Het
Cntn1	T	C	15: 92,151,922 (GRCm39)	W454R	probably benign	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Csf2rb	A	G	15: 78,223,099 (GRCm39)	T104A	possibly damaging	Het
Cyp4a12b	A	G	4: 115,289,760 (GRCm39)	D209G	possibly damaging	Het
Ddx23	T	C	15: 98,546,570 (GRCm39)	E533G	probably damaging	Het
Dscaml1	A	G	9: 45,660,744 (GRCm39)		probably null	Het
Eif3l	T	G	15: 78,968,336 (GRCm39)	C202G	probably benign	Het
Ephx4	T	G	5: 107,577,612 (GRCm39)	M312R	probably damaging	Het
Erich6	A	T	3: 58,534,112 (GRCm39)		probably null	Het
Far2	G	A	6: 148,075,411 (GRCm39)	D424N	probably damaging	Het
Fat1	C	A	8: 45,489,221 (GRCm39)	N3497K	probably damaging	Het
Fstl3	G	A	10: 79,615,865 (GRCm39)	C117Y	probably damaging	Het
Fyb2	A	T	4: 104,870,499 (GRCm39)	H700L	probably benign	Het
Gm8356	T	A	14: 17,691,282 (GRCm39)	M128L	probably benign	Het
Golim4	G	T	3: 75,805,442 (GRCm39)		probably null	Het
Grm1	T	G	10: 10,622,403 (GRCm39)	D440A	probably benign	Het
Gtf2a1	A	G	12: 91,529,747 (GRCm39)	V322A	probably benign	Het
Hid1	T	C	11: 115,243,407 (GRCm39)		probably null	Het
Igfals	G	A	17: 25,098,962 (GRCm39)	V18M	possibly damaging	Het
Klk1b24	G	T	7: 43,839,688 (GRCm39)		probably null	Het
Lmbr1	T	C	5: 29,551,850 (GRCm39)		probably benign	Het
Lrrc40	T	C	3: 157,746,194 (GRCm39)	S90P	probably benign	Het
Mapk9	T	C	11: 49,763,663 (GRCm39)	Y185H	probably damaging	Het
Marveld2	C	T	13: 100,748,068 (GRCm39)	G337D	probably damaging	Het
Mga	G	T	2: 119,776,710 (GRCm39)	R1539L	probably damaging	Het
Mllt6	T	A	11: 97,563,442 (GRCm39)	S342T	probably benign	Het
Ms4a6c	T	C	19: 11,449,893 (GRCm39)		probably null	Het
Muc16	T	A	9: 18,558,064 (GRCm39)	H2743L	unknown	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Or10ag60	T	C	2: 87,438,281 (GRCm39)	F183S	probably damaging	Het
Or2l13	A	G	16: 19,305,753 (GRCm39)	H55R	possibly damaging	Het
Plcd3	T	G	11: 102,962,545 (GRCm39)	K635N	probably damaging	Het
Prkch	T	A	12: 73,632,301 (GRCm39)		probably null	Het
Rb1cc1	T	C	1: 6,344,441 (GRCm39)	V1570A	probably damaging	Het
Rp1	T	C	1: 4,415,704 (GRCm39)	N1803D	probably benign	Het
Rufy3	T	A	5: 88,746,331 (GRCm39)	V72E	probably benign	Het
Secisbp2l	G	A	2: 125,613,452 (GRCm39)	Q181*	probably null	Het
Sgcb	A	G	5: 73,797,188 (GRCm39)	F191L	possibly damaging	Het
Sgsh	T	A	11: 119,237,183 (GRCm39)	D477V	probably damaging	Het
Shoc1	A	T	4: 59,062,286 (GRCm39)	V924E	probably damaging	Het
Slc22a28	C	A	19: 8,048,492 (GRCm39)	S385I	probably benign	Het
Slc26a3	T	C	12: 31,497,787 (GRCm39)	V47A	probably benign	Het
Slco2a1	A	T	9: 102,945,185 (GRCm39)	I187F	probably damaging	Het
Sltm	T	C	9: 70,481,179 (GRCm39)	S344P	unknown	Het
Sort1	A	G	3: 108,246,141 (GRCm39)	T373A	probably damaging	Het
Stab1	A	G	14: 30,882,274 (GRCm39)	F474L	probably benign	Het
Tbc1d5	G	T	17: 51,224,573 (GRCm39)	A326E	possibly damaging	Het
Tcstv4	A	T	13: 120,770,017 (GRCm39)	K112N	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdr70	G	A	15: 7,951,562 (GRCm39)	T425I	probably benign	Het
Zfp30	T	C	7: 29,492,231 (GRCm39)	Y243H	probably benign	Het
Zfp974	A	T	7: 27,611,559 (GRCm39)	N55K	possibly damaging	Het
Zftraf1	A	G	15: 76,530,435 (GRCm39)	L295P	probably damaging	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
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'- AGAATCTAGGGGCTTCCTCAG -3'
(R):5'- AAGACTGCAGGAGACCTATGGC -3'

Sequencing Primer
(F):5'- AATCTAGGGGCTTCCTCAGGAATG -3'
(R):5'- ATACTTGCTGGATCCTCCCGAAG -3'

Posted On

2019-10-07