Mutagenetix > Incidental Mutation

Incidental Mutation 'R5368:Acbd3'

484443

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

043204-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5368 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

180553608-180581769 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 180549660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000027780
Gene: ENSMUSG00000026499

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192796

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (61/63)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	A	7: 130,740,925 (GRCm39)	H97L	possibly damaging	Het
Abca9	T	A	11: 110,036,372 (GRCm39)	N579I	probably damaging	Het
Ankrd50	A	T	3: 38,509,199 (GRCm39)	I1056N	probably damaging	Het
Ceacam18	T	C	7: 43,291,458 (GRCm39)	V300A	probably benign	Het
Cfap46	C	A	7: 139,207,389 (GRCm39)	R1843S	possibly damaging	Het
D430041D05Rik	A	G	2: 104,078,629 (GRCm39)	V1229A	probably damaging	Het
Dbx2	G	A	15: 95,538,522 (GRCm39)	S206L	probably benign	Het
Dnah11	A	T	12: 117,918,628 (GRCm39)	D1530E	probably damaging	Het
Ecm2	A	C	13: 49,674,419 (GRCm39)	T280P	probably benign	Het
Emc2	G	A	15: 43,375,207 (GRCm39)		probably null	Het
Epb42	C	T	2: 120,849,943 (GRCm39)	V689I	probably benign	Het
Fam114a1	T	A	5: 65,163,452 (GRCm39)	M209K	possibly damaging	Het
Fam117a	C	T	11: 95,266,459 (GRCm39)	S193F	probably damaging	Het
Foxp2	A	T	6: 15,377,913 (GRCm39)		probably benign	Het
Frmd6	T	A	12: 70,910,874 (GRCm39)	C19*	probably null	Het
Fyb1	A	G	15: 6,610,159 (GRCm39)		probably null	Het
Gata6	C	A	18: 11,063,059 (GRCm39)	H442Q	possibly damaging	Het
Gldc	A	G	19: 30,135,921 (GRCm39)	S160P	probably benign	Het
Gm3952	A	G	8: 129,472,455 (GRCm39)	S1626P	possibly damaging	Het
Gm9762	T	A	3: 78,873,742 (GRCm39)		noncoding transcript	Het
Gtpbp2	T	C	17: 46,477,230 (GRCm39)		probably benign	Het
Hgd	A	T	16: 37,410,113 (GRCm39)	T50S	probably benign	Het
Itpr1	C	T	6: 108,364,459 (GRCm39)	T22M	probably damaging	Het
Kif26b	G	A	1: 178,743,449 (GRCm39)	E1182K	probably damaging	Het
Kirrel3	A	G	9: 34,919,034 (GRCm39)	E230G	probably damaging	Het
Leng8	A	G	7: 4,142,987 (GRCm39)	Y88C	probably damaging	Het
Lpo	T	C	11: 87,711,895 (GRCm39)	D54G	possibly damaging	Het
Lypd2	G	T	15: 74,604,908 (GRCm39)	A29E	probably benign	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Mical3	T	C	6: 120,936,434 (GRCm39)	Y1364C	probably damaging	Het
Mroh2b	A	G	15: 4,935,054 (GRCm39)	N163S	probably damaging	Het
Mtf1	G	A	4: 124,718,872 (GRCm39)	C295Y	probably damaging	Het
Nbn	T	A	4: 15,969,391 (GRCm39)	L212Q	probably damaging	Het
Obscn	A	T	11: 58,959,852 (GRCm39)		probably null	Het
Or10ag56	T	A	2: 87,139,126 (GRCm39)		probably null	Het
Or4c110	A	G	2: 88,832,435 (GRCm39)	S66P	probably damaging	Het
Peli1	A	G	11: 21,098,389 (GRCm39)	T375A	probably damaging	Het
Picalm	T	C	7: 89,856,803 (GRCm39)	*611Q	probably null	Het
Plch1	G	T	3: 63,609,394 (GRCm39)	Q938K	possibly damaging	Het
Plxnb2	A	G	15: 89,043,796 (GRCm39)	V1352A	possibly damaging	Het
Pmepa1	G	A	2: 173,070,115 (GRCm39)	R147W	probably damaging	Het
Prdm16	T	G	4: 154,429,848 (GRCm39)	K373Q	probably damaging	Het
Qki	T	G	17: 10,457,964 (GRCm39)	E135A	probably damaging	Het
Rad50	T	C	11: 53,575,073 (GRCm39)	K556E	probably benign	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Sin3a	T	A	9: 57,018,084 (GRCm39)	D834E	possibly damaging	Het
Smg8	G	A	11: 86,971,086 (GRCm39)	S895L	probably benign	Het
Sorl1	T	C	9: 41,890,686 (GRCm39)	I1944M	probably benign	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Tmprss7	A	T	16: 45,481,252 (GRCm39)	W645R	probably damaging	Het
Tns1	T	C	1: 73,980,176 (GRCm39)	M1111V	probably benign	Het
Ttn	A	C	2: 76,608,726 (GRCm39)	D17763E	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubr4	G	A	4: 139,124,839 (GRCm39)		probably benign	Het
Usp31	T	C	7: 121,260,588 (GRCm39)	H637R	probably damaging	Het
Vps50	A	C	6: 3,567,739 (GRCm39)	E545A	possibly damaging	Het
Wdfy3	G	T	5: 102,020,724 (GRCm39)	L2527M	probably damaging	Het
Wfdc2	T	C	2: 164,405,354 (GRCm39)	V85A	possibly 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
R6018:Acbd3	UTSW	1	180,579,903 (GRCm39)	missense	possibly damaging	0.88
R7072:Acbd3	UTSW	1	180,553,934 (GRCm39)	missense	probably benign
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'- AGGATCAATGTGCGGATTGAGC -3'
(R):5'- CCAGACTGGCCTAAAACCTG -3'

Sequencing Primer
(F):5'- CAGGGACAGCTTCCTGAAG -3'
(R):5'- AGACAGGGTTTCTCTGTATAGCCC -3'

Posted On

2017-07-14