Mutagenetix > Incidental Mutation

Incidental Mutation 'R0733:Acbd3'

67081

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

038914-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0733 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

180553608-180581769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180579783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 476 (I476V)

Ref Sequence

ENSEMBL: ENSMUSP00000027780 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027780
AA Change: I476V

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000027780
Gene: ENSMUSG00000026499
AA Change: I476V

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: ENSMUST00000192748

Meta Mutation Damage Score

0.0824

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.9%

Validation Efficiency

98% (60/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	A	G	2: 31,668,957 (GRCm39)	Y88C	probably damaging	Het
Apba2	T	C	7: 64,399,912 (GRCm39)	I689T	probably damaging	Het
AU018091	A	G	7: 3,209,001 (GRCm39)	Y362H	probably damaging	Het
Castor2	T	C	5: 134,165,054 (GRCm39)	F208L	possibly damaging	Het
Cdh26	T	C	2: 178,128,724 (GRCm39)	S759P	probably damaging	Het
Clcc1	A	G	3: 108,582,056 (GRCm39)	Q387R	probably benign	Het
Cobl	C	T	11: 12,315,167 (GRCm39)	G259R	probably benign	Het
Col4a1	C	T	8: 11,268,934 (GRCm39)	R968Q	possibly damaging	Het
Ddr2	A	G	1: 169,832,381 (GRCm39)		probably benign	Het
Dera	C	A	6: 137,773,846 (GRCm39)	N201K	probably damaging	Het
Dsg1a	A	C	18: 20,471,725 (GRCm39)	E659A	probably damaging	Het
Dus2	G	T	8: 106,772,702 (GRCm39)		probably null	Het
Ears2	T	A	7: 121,647,352 (GRCm39)	I311F	possibly damaging	Het
Eml4	T	A	17: 83,761,893 (GRCm39)	M417K	possibly damaging	Het
Exosc4	A	T	15: 76,213,616 (GRCm39)	M147L	probably benign	Het
Fam171a2	T	A	11: 102,330,548 (GRCm39)	Y278F	possibly damaging	Het
Fastk	A	C	5: 24,648,921 (GRCm39)	H155Q	probably null	Het
Fem1b	G	T	9: 62,704,125 (GRCm39)	N378K	possibly damaging	Het
Fut11	C	A	14: 20,745,427 (GRCm39)	Y119*	probably null	Het
Gm6797	T	C	X: 8,511,388 (GRCm39)		noncoding transcript	Het
Gstt4	T	C	10: 75,653,148 (GRCm39)	D138G	probably benign	Het
Hprt1	G	A	X: 52,091,027 (GRCm39)	C66Y	probably damaging	Het
Inpp5d	T	A	1: 87,595,799 (GRCm39)		probably benign	Het
Ints6l	T	A	X: 55,547,108 (GRCm39)	S621T	probably benign	Het
Ints6l	C	G	X: 55,550,172 (GRCm39)	A699G	probably benign	Het
Kctd3	A	G	1: 188,729,247 (GRCm39)		probably benign	Het
Kntc1	G	T	5: 123,928,979 (GRCm39)	V1252L	probably null	Het
Lama5	A	T	2: 179,822,511 (GRCm39)	M2854K	possibly damaging	Het
Lcn5	G	T	2: 25,551,113 (GRCm39)	L187F	probably damaging	Het
Lrp3	A	T	7: 34,901,545 (GRCm39)	L758M	possibly damaging	Het
Ltn1	T	A	16: 87,209,395 (GRCm39)	I740F	probably benign	Het
Mcm5	A	G	8: 75,853,876 (GRCm39)	K710R	probably benign	Het
Mllt10	A	G	2: 18,208,577 (GRCm39)		probably benign	Het
Nbr1	T	A	11: 101,467,197 (GRCm39)	M864K	probably benign	Het
Nkiras2	T	C	11: 100,515,758 (GRCm39)		probably null	Het
Nlrp4d	T	A	7: 10,116,449 (GRCm39)	E144V	probably benign	Het
Nppc	T	C	1: 86,597,356 (GRCm39)		probably benign	Het
Ormdl2	T	A	10: 128,655,868 (GRCm39)	Q94L	probably damaging	Het
Paox	G	C	7: 139,707,440 (GRCm39)	D88H	probably damaging	Het
Prl7a2	T	C	13: 27,846,671 (GRCm39)	E114G	probably damaging	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Prss54	T	C	8: 96,286,368 (GRCm39)	D235G	possibly damaging	Het
Rwdd3	T	C	3: 120,965,256 (GRCm39)	M24V	probably benign	Het
Serpinb6e	T	A	13: 34,025,201 (GRCm39)	N30I	probably benign	Het
Sh3rf1	G	A	8: 61,825,594 (GRCm39)	A530T	probably benign	Het
Slc28a1	T	C	7: 80,774,648 (GRCm39)	I165T	probably benign	Het
Slco6d1	T	A	1: 98,355,994 (GRCm39)	L143*	probably null	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Snx27	A	G	3: 94,469,320 (GRCm39)	L7P	probably benign	Het
Spata31e2	T	A	1: 26,722,013 (GRCm39)	T1056S	possibly damaging	Het
Spsb1	C	T	4: 149,991,374 (GRCm39)	V65I	probably benign	Het
St8sia2	C	T	7: 73,610,588 (GRCm39)	G232S	probably benign	Het
Sun1	A	G	5: 139,216,918 (GRCm39)	H255R	possibly damaging	Het
Tent2	T	A	13: 93,291,547 (GRCm39)	Q365L	probably benign	Het
Ube2k	A	G	5: 65,738,795 (GRCm39)	I95V	probably damaging	Het
Ube2m	C	A	7: 12,769,679 (GRCm39)	E126D	probably damaging	Het
Vmn2r27	A	T	6: 124,169,147 (GRCm39)	M661K	probably benign	Het
Wdr47	A	T	3: 108,525,939 (GRCm39)	D154V	probably damaging	Het
Zfp113	A	G	5: 138,143,845 (GRCm39)	V135A	probably benign	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
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
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'- CAACTGTACATGGTGGTGGTCAGG -3'
(R):5'- CATGTTGTGCTCAACCCTAGACTCC -3'

Sequencing Primer
(F):5'- ATGACGAACATGCGCCTG -3'
(R):5'- TCCCGACCCTGGAACAG -3'

Posted On

2013-09-03