Mutagenetix > Incidental Mutation

Incidental Mutation 'R7072:Acbd3'

548930

Institutional Source

Beutler Lab

Gene Symbol

Acbd3

Ensembl Gene

ENSMUSG00000026499

Gene Name

acyl-Coenzyme A binding domain containing 3

Synonyms

Pap7, 8430407O11Rik, D1Ertd10e, Gocap1

MMRRC Submission

045168-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7072 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

180553608-180581769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180553934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 90 (F90L)

Ref Sequence

ENSEMBL: ENSMUSP00000027780 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027780]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027780
AA Change: F90L

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

SMART Domains

Protein: ENSMUSP00000027780
Gene: ENSMUSG00000026499
AA Change: F90L

Domain	Start	End	E-Value	Type
low complexity region	52	74	N/A	INTRINSIC
Pfam:ACBP	81	167	3.2e-18	PFAM
coiled coil region	173	252	N/A	INTRINSIC
low complexity region	268	305	N/A	INTRINSIC
low complexity region	346	356	N/A	INTRINSIC
Pfam:GOLD_2	394	524	2.5e-73	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is involved in the maintenance of Golgi structure and function through its interaction with the integral membrane protein giantin. It may also be involved in the hormonal regulation of steroid formation. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,967,592 (GRCm39)	L2214Q	probably damaging	Het
Ahnak2	T	A	12: 112,751,786 (GRCm39)	Q23L		Het
Anpep	A	T	7: 79,485,127 (GRCm39)	L620I	possibly damaging	Het
Bpi	T	C	2: 158,113,998 (GRCm39)	S299P	probably damaging	Het
Bpifa2	A	G	2: 153,853,293 (GRCm39)	D132G	probably damaging	Het
Brd7	T	A	8: 89,073,615 (GRCm39)	E258D	probably benign	Het
Btc	T	C	5: 91,550,796 (GRCm39)		probably benign	Het
Cacna1c	A	G	6: 118,573,067 (GRCm39)	V2039A		Het
Calm4	T	A	13: 3,888,275 (GRCm39)	V127E	probably benign	Het
Casp8ap2	T	A	4: 32,644,766 (GRCm39)	S1280T	probably damaging	Het
Cc2d2b	T	C	19: 40,748,803 (GRCm39)	V80A	unknown	Het
Ccdc33	A	G	9: 58,019,267 (GRCm39)	*279R	probably null	Het
Cercam	T	A	2: 29,771,936 (GRCm39)	H585Q	probably benign	Het
Cnnm1	A	G	19: 43,429,296 (GRCm39)	D138G	probably benign	Het
Cox4i2	T	C	2: 152,602,573 (GRCm39)	F89S	probably damaging	Het
Crb1	G	A	1: 139,165,013 (GRCm39)	T1098I	probably damaging	Het
Csnk1e	C	T	15: 79,322,967 (GRCm39)		probably null	Het
Ctsj	C	A	13: 61,150,897 (GRCm39)	E187*	probably null	Het
Dagla	A	T	19: 10,233,659 (GRCm39)		probably null	Het
Dnah7a	G	A	1: 53,458,912 (GRCm39)	T3742I	probably benign	Het
Dnajc6	A	C	4: 101,472,812 (GRCm39)	H381P	probably damaging	Het
Dyrk3	A	T	1: 131,057,465 (GRCm39)	L236Q	probably damaging	Het
Edc4	T	A	8: 106,614,634 (GRCm39)	D105E	probably damaging	Het
Frmd5	A	T	2: 121,388,351 (GRCm39)	L241Q	probably damaging	Het
Gcc2	A	G	10: 58,106,749 (GRCm39)	T662A	probably benign	Het
Gins1	C	T	2: 150,751,671 (GRCm39)		probably null	Het
Gli3	T	A	13: 15,900,280 (GRCm39)	N1222K	possibly damaging	Het
Gm4302	G	T	10: 100,177,521 (GRCm39)	Q268H	unknown	Het
Grin2d	A	T	7: 45,506,922 (GRCm39)	W518R	probably damaging	Het
Grm5	A	T	7: 87,723,512 (GRCm39)	I601F	probably damaging	Het
Gtpbp10	A	T	5: 5,596,365 (GRCm39)	N193K	probably benign	Het
Igdcc4	T	G	9: 65,038,013 (GRCm39)	V798G	probably damaging	Het
Igkv8-19	A	T	6: 70,318,396 (GRCm39)	F13I	probably benign	Het
Kctd11	T	A	11: 69,770,621 (GRCm39)	N139I	probably benign	Het
Lmo7	G	A	14: 102,136,136 (GRCm39)		probably null	Het
Lrrk2	A	T	15: 91,686,123 (GRCm39)	M2155L	probably benign	Het
Ly6g6g	C	T	15: 74,644,119 (GRCm39)	V66M		Het
Mettl24	A	C	10: 40,559,509 (GRCm39)	H53P	probably benign	Het
Mier2	A	G	10: 79,376,133 (GRCm39)	M264T	unknown	Het
Mplkip	T	C	13: 17,870,122 (GRCm39)	I18T	unknown	Het
Mtmr2	T	C	9: 13,699,916 (GRCm39)	V101A	probably benign	Het
Nbeal2	G	T	9: 110,455,119 (GRCm39)	T2593K	probably benign	Het
Neu3	A	T	7: 99,463,404 (GRCm39)	C106*	probably null	Het
Nutm1	T	C	2: 112,082,192 (GRCm39)	T295A	probably benign	Het
Or2h2b-ps1	A	G	17: 37,481,269 (GRCm39)	I90T	probably benign	Het
Pcdhga7	G	T	18: 37,850,329 (GRCm39)	V779L	probably benign	Het
Pde10a	A	G	17: 9,161,858 (GRCm39)	E231G	probably benign	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Plcg2	T	A	8: 118,316,574 (GRCm39)		probably null	Het
Pofut2	T	C	10: 77,095,263 (GRCm39)	L36P	probably benign	Het
Pou6f2	T	C	13: 18,299,754 (GRCm39)	N635S		Het
Pramel14	A	C	4: 143,720,698 (GRCm39)	I81R	probably damaging	Het
Ptpra	T	C	2: 130,395,350 (GRCm39)	Y818H	probably damaging	Het
Rad18	T	C	6: 112,658,401 (GRCm39)	E168G	probably benign	Het
Rev1	C	A	1: 38,106,626 (GRCm39)	E634*	probably null	Het
Sec24d	A	G	3: 123,124,000 (GRCm39)	D403G	probably damaging	Het
Sema5a	C	A	15: 32,575,105 (GRCm39)	H404Q	possibly damaging	Het
Shank1	A	G	7: 43,994,370 (GRCm39)	S844G	unknown	Het
Slc32a1	T	A	2: 158,453,416 (GRCm39)	Y85*	probably null	Het
Slc39a4	T	C	15: 76,497,458 (GRCm39)	T485A	probably damaging	Het
Sp5	A	C	2: 70,307,074 (GRCm39)	Q253P	probably benign	Het
Sspo	A	T	6: 48,431,913 (GRCm39)	D709V	probably damaging	Het
Sucnr1	A	G	3: 59,993,604 (GRCm39)	Y44C	probably damaging	Het
Taar8b	A	G	10: 23,967,876 (GRCm39)	L106P	possibly damaging	Het
Tbc1d9	A	G	8: 83,991,494 (GRCm39)	D922G	probably damaging	Het
Tbx6	A	T	7: 126,383,912 (GRCm39)	D322V	probably benign	Het
Tex15	T	A	8: 34,065,459 (GRCm39)	S1630T	possibly damaging	Het
Ube2o	G	A	11: 116,432,327 (GRCm39)	P880S	probably benign	Het
Uck1	C	T	2: 32,148,178 (GRCm39)	R182Q	probably damaging	Het
Utrn	T	A	10: 12,340,957 (GRCm39)	H2840L	probably damaging	Het
Vps8	A	G	16: 21,400,329 (GRCm39)	T1266A	probably benign	Het
Wnk1	A	T	6: 119,914,822 (GRCm39)	I1909N	unknown	Het
Zfp352	C	T	4: 90,112,661 (GRCm39)	T267I	probably benign	Het
Zfp773	A	T	7: 7,135,874 (GRCm39)	C241S	probably benign	Het
Zfp934	T	C	13: 62,668,339 (GRCm39)	D8G	probably damaging	Het

Other mutations in Acbd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03215:Acbd3	APN	1	180,572,670 (GRCm39)	missense	possibly damaging	0.61
R0321:Acbd3	UTSW	1	180,579,870 (GRCm39)	missense	probably damaging	1.00
R0365:Acbd3	UTSW	1	180,566,177 (GRCm39)	missense	probably damaging	1.00
R0524:Acbd3	UTSW	1	180,574,624 (GRCm39)	small deletion	probably benign
R0733:Acbd3	UTSW	1	180,579,783 (GRCm39)	missense	possibly damaging	0.75
R0884:Acbd3	UTSW	1	180,574,624 (GRCm39)	small deletion	probably benign
R1074:Acbd3	UTSW	1	180,566,113 (GRCm39)	nonsense	probably null
R1327:Acbd3	UTSW	1	180,560,748 (GRCm39)	missense	possibly damaging	0.95
R1352:Acbd3	UTSW	1	180,566,095 (GRCm39)	missense	probably damaging	1.00
R1820:Acbd3	UTSW	1	180,572,703 (GRCm39)	missense	probably benign	0.13
R4697:Acbd3	UTSW	1	180,549,509 (GRCm39)	unclassified	probably benign
R5187:Acbd3	UTSW	1	180,564,297 (GRCm39)	nonsense	probably null
R5217:Acbd3	UTSW	1	180,553,938 (GRCm39)	missense	probably benign	0.18
R5368:Acbd3	UTSW	1	180,549,660 (GRCm39)	unclassified	probably benign
R6018:Acbd3	UTSW	1	180,579,903 (GRCm39)	missense	possibly damaging	0.88
R7366:Acbd3	UTSW	1	180,562,064 (GRCm39)	missense	probably benign	0.41
R7952:Acbd3	UTSW	1	180,579,903 (GRCm39)	missense	possibly damaging	0.88
R8260:Acbd3	UTSW	1	180,566,095 (GRCm39)	missense	probably damaging	1.00
R8267:Acbd3	UTSW	1	180,574,413 (GRCm39)	missense	probably damaging	1.00
R8327:Acbd3	UTSW	1	180,566,158 (GRCm39)	missense	probably damaging	0.98
R8356:Acbd3	UTSW	1	180,553,881 (GRCm39)	missense	probably benign
R8848:Acbd3	UTSW	1	180,562,084 (GRCm39)	critical splice donor site	probably null
R9483:Acbd3	UTSW	1	180,572,721 (GRCm39)	missense	probably benign	0.41
R9681:Acbd3	UTSW	1	180,566,082 (GRCm39)	nonsense	probably null
X0027:Acbd3	UTSW	1	180,574,595 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- TGAACGTAGAGCAGCTCGAG -3'
(R):5'- AACCAGGGTTCTAGGTCTCTC -3'

Sequencing Primer
(F):5'- TAGAGCAGCTCGAGGTGTC -3'
(R):5'- TCTCTCAGGGGTGTGACCAG -3'

Posted On

2019-05-15