Mutagenetix > Incidental Mutation

Incidental Mutation 'R6018:Acbd3'

478691

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

044192-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6018 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

180553608-180581769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180579903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 516 (S516P)

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: S516P

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027780
Gene: ENSMUSG00000026499
AA Change: S516P

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.6%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,210,448 (GRCm39)	Y155N	probably damaging	Het
1700019A02Rik	C	T	1: 53,202,405 (GRCm39)		probably null	Het
2310022B05Rik	A	G	8: 125,365,853 (GRCm39)	F297L	probably benign	Het
Agbl3	A	G	6: 34,776,190 (GRCm39)	N227S	probably damaging	Het
Ak6	C	T	13: 100,802,459 (GRCm39)	Q151*	probably null	Het
Ano4	A	G	10: 88,865,128 (GRCm39)	L297P	probably benign	Het
Anxa5	T	C	3: 36,504,807 (GRCm39)	T252A	probably benign	Het
Ap5s1	G	A	2: 131,054,915 (GRCm39)	W212*	probably null	Het
Arl9	A	G	5: 77,155,253 (GRCm39)	Q113R	probably damaging	Het
Atg2b	T	C	12: 105,627,430 (GRCm39)	H519R	probably damaging	Het
Atp1a2	A	G	1: 172,125,579 (GRCm39)		probably benign	Het
Atp2b1	G	A	10: 98,846,622 (GRCm39)	A808T	probably damaging	Het
Bckdhb	C	A	9: 83,951,237 (GRCm39)	T342K	probably benign	Het
Bdp1	T	C	13: 100,174,732 (GRCm39)	H1996R	probably benign	Het
Brix1	C	T	15: 10,476,675 (GRCm39)	R267H	probably benign	Het
Ccdc180	A	G	4: 45,926,235 (GRCm39)	I1148M	probably damaging	Het
Csf3r	T	A	4: 125,937,414 (GRCm39)	M766K	probably benign	Het
Ctnnd1	T	A	2: 84,480,812 (GRCm39)		probably benign	Het
Cyp2c39	A	T	19: 39,499,436 (GRCm39)	N41I	probably damaging	Het
D2hgdh	G	T	1: 93,754,182 (GRCm39)	V52L	probably benign	Het
Dppa4	T	A	16: 48,109,490 (GRCm39)	Y77*	probably null	Het
Eif4enif1	T	C	11: 3,192,481 (GRCm39)	S770P	probably damaging	Het
Fbxl16	A	T	17: 26,036,709 (GRCm39)	D230V	probably damaging	Het
Gm4847	G	A	1: 166,471,017 (GRCm39)	A11V	probably damaging	Het
Gm9978	C	T	10: 78,322,915 (GRCm39)		noncoding transcript	Het
Gpatch8	A	G	11: 102,371,741 (GRCm39)	L599P	unknown	Het
Hdac4	A	G	1: 91,886,120 (GRCm39)	L254P	probably damaging	Het
Heatr1	A	G	13: 12,419,828 (GRCm39)	I384V	probably benign	Het
Heatr1	A	T	13: 12,420,939 (GRCm39)	Q410L	probably benign	Het
Hmcn2	A	G	2: 31,260,804 (GRCm39)	I1065V	probably benign	Het
Igkv6-14	A	G	6: 70,412,024 (GRCm39)	S87P	probably damaging	Het
Il2rb	G	T	15: 78,366,266 (GRCm39)	Q344K	possibly damaging	Het
Ipo4	A	G	14: 55,863,609 (GRCm39)		probably null	Het
Ipo9	A	G	1: 135,318,274 (GRCm39)		probably null	Het
Khdrbs1	T	C	4: 129,613,887 (GRCm39)	T374A	probably benign	Het
Lamc3	G	T	2: 31,795,724 (GRCm39)	G370W	probably damaging	Het
Lipn	T	A	19: 34,054,335 (GRCm39)	L191Q	probably damaging	Het
Lpl	T	C	8: 69,353,940 (GRCm39)	V427A	probably benign	Het
Magi3	T	C	3: 104,013,128 (GRCm39)	S120G	probably damaging	Het
Mgl2	T	C	11: 70,027,937 (GRCm39)	*382Q	probably null	Het
Nab2	G	A	10: 127,500,793 (GRCm39)	Q100*	probably null	Het
Nfat5	T	A	8: 108,082,283 (GRCm39)		probably null	Het
Nqo1	T	C	8: 108,115,500 (GRCm39)	H259R	probably damaging	Het
Nrdc	T	A	4: 108,870,944 (GRCm39)	D190E	probably benign	Het
Or5m5	T	A	2: 85,815,148 (GRCm39)		probably benign	Het
Osmr	G	A	15: 6,845,276 (GRCm39)	P830L	probably damaging	Het
Parp14	G	A	16: 35,661,827 (GRCm39)	P1403S	probably benign	Het
Pde11a	T	A	2: 75,848,194 (GRCm39)	M878L	probably benign	Het
Pik3ap1	T	C	19: 41,373,455 (GRCm39)		probably benign	Het
Pla2g3	T	C	11: 3,441,916 (GRCm39)	L360P	probably damaging	Het
Plxnc1	A	G	10: 94,779,710 (GRCm39)	V244A	probably benign	Het
Pramel16	C	T	4: 143,677,469 (GRCm39)	A37T	possibly damaging	Het
Ptpra	T	C	2: 130,345,422 (GRCm39)	V8A	probably benign	Het
Rbbp5	T	C	1: 132,422,078 (GRCm39)	V199A	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rp1	A	G	1: 4,423,059 (GRCm39)	V7A	possibly damaging	Het
Sdk2	T	C	11: 113,720,889 (GRCm39)	T1347A	probably benign	Het
Sgo2a	T	A	1: 58,056,118 (GRCm39)	H767Q	probably benign	Het
Sis	G	A	3: 72,820,525 (GRCm39)	P1413L	possibly damaging	Het
Slc22a5	G	T	11: 53,766,846 (GRCm39)	A214E	probably damaging	Het
Snx13	G	T	12: 35,097,318 (GRCm39)		probably benign	Het
Sun5	T	A	2: 153,700,363 (GRCm39)	I295F	probably damaging	Het
Themis3	C	T	17: 66,900,204 (GRCm39)	A55T	probably damaging	Het
Tmem255b	T	C	8: 13,505,138 (GRCm39)	Y148H	probably benign	Het
Tmem74b	A	G	2: 151,548,639 (GRCm39)	E122G	probably damaging	Het
Top3b	T	C	16: 16,710,756 (GRCm39)	V862A	probably damaging	Het
Trim35	A	T	14: 66,546,199 (GRCm39)	D322V	probably damaging	Het
Trpm2	A	G	10: 77,753,547 (GRCm39)	F1319S	probably benign	Het
Ttn	T	A	2: 76,785,020 (GRCm39)	R756S	probably benign	Het
Vmn2r108	A	T	17: 20,683,268 (GRCm39)	N645K	possibly damaging	Het
Vmn2r73	A	G	7: 85,521,875 (GRCm39)	S155P	possibly damaging	Het
Vstm4	G	A	14: 32,585,627 (GRCm39)	A65T	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
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
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'- TGCTGGGTCTAACACTTGAC -3'
(R):5'- AGGAATCCTGGTTCTCAATGAG -3'

Sequencing Primer
(F):5'- CCGTCTCACAGAAAATGTCACTTGTG -3'
(R):5'- GGTTCTCAATGAGTTCATAAACCCTC -3'

Posted On

2017-06-26