Mutagenetix > Incidental Mutations

Incidental Mutation 'R0365:Acbd3'

36315

Institutional Source

Beutler Lab

Gene Symbol

Acbd3

Ensembl Gene

ENSMUSG00000026499

Gene Name

acyl-Coenzyme A binding domain containing 3

Synonyms

D1Ertd10e, 8430407O11Rik, Pap7, Gocap1

MMRRC Submission

038571-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0365 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180726043-180754204 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180738612 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 290 (Y290C)

Ref Sequence

ENSEMBL: ENSMUSP00000027780 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000027780
AA Change: Y290C

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

SMART Domains

Protein: ENSMUSP00000027780
Gene: ENSMUSG00000026499
AA Change: Y290C

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: ENSMUST00000192420

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192748

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.8%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 58,028,692	M173K	probably benign	Het
Abcb1b	T	A	5: 8,806,009	F39Y	probably damaging	Het
Alg12	A	C	15: 88,816,149	I28R	possibly damaging	Het
Amer2	A	T	14: 60,379,535	D393V	probably damaging	Het
Anxa5	A	T	3: 36,457,469	V153D	probably damaging	Het
Arl5a	T	C	2: 52,416,129	M64V	probably benign	Het
Armc4	T	A	18: 7,217,800	H638L	probably benign	Het
Astn1	T	C	1: 158,688,548	L1236P	probably damaging	Het
Atg2a	T	C	19: 6,247,683	S424P	possibly damaging	Het
AW551984	A	T	9: 39,599,321	S239R	probably benign	Het
Baz1b	T	C	5: 135,240,131	V1278A	probably benign	Het
Cbfa2t3	G	T	8: 122,635,060	L408I	probably benign	Het
Cdc27	A	T	11: 104,528,424	N227K	possibly damaging	Het
Cdh23	T	A	10: 60,379,315	N1412I	probably damaging	Het
Cdh7	A	T	1: 110,108,756	Q555H	probably damaging	Het
Cdhr2	T	C	13: 54,718,292	S302P	probably benign	Het
Cep350	C	A	1: 155,906,571	E1563D	probably benign	Het
Cfap221	T	A	1: 119,985,023	E107V	probably benign	Het
Col6a3	C	A	1: 90,788,216	R1641L	unknown	Het
Coro6	A	T	11: 77,464,090	I60F	probably benign	Het
Dock10	G	T	1: 80,595,683	N245K	probably damaging	Het
Epb41l2	T	A	10: 25,469,221	N286K	probably damaging	Het
Fam83g	G	T	11: 61,703,109	E490*	probably null	Het
Gm13088	G	T	4: 143,655,501	Y208*	probably null	Het
Gnb1l	T	C	16: 18,552,461	I234T	possibly damaging	Het
Gtf3a	T	A	5: 146,948,937	W53R	probably damaging	Het
Ikzf4	T	C	10: 128,634,407	I415V	probably benign	Het
Il11ra1	T	C	4: 41,767,527	V293A	probably damaging	Het
Il17ra	G	A	6: 120,478,449	V340M	probably benign	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Kif24	A	T	4: 41,428,731	H76Q	probably benign	Het
Klhl25	T	C	7: 75,866,516	L390P	probably damaging	Het
Klhl26	T	C	8: 70,451,829	D443G	probably damaging	Het
Lama3	A	T	18: 12,507,007	R86S	probably damaging	Het
Lrrc24	G	A	15: 76,715,784	A385V	probably benign	Het
Maea	C	T	5: 33,360,443	A109V	probably benign	Het
Mtor	A	T	4: 148,486,050	Y1188F	probably benign	Het
Nccrp1	T	C	7: 28,544,552	D202G	probably damaging	Het
Nsun4	A	T	4: 116,044,738	L177Q	probably damaging	Het
Nup155	C	T	15: 8,131,543	R571W	probably damaging	Het
Nup160	T	A	2: 90,708,844	M789K	probably benign	Het
Olfr262	A	G	19: 12,241,076	F195S	probably benign	Het
Olfr469	A	T	7: 107,822,917	L184*	probably null	Het
Olfr926	A	T	9: 38,877,185	H3L	probably benign	Het
Pgpep1	G	T	8: 70,652,524		probably null	Het
Pkd1l2	C	T	8: 117,021,850	V1861M	probably benign	Het
Plekha5	G	A	6: 140,591,747	R646K	possibly damaging	Het
Plin4	G	T	17: 56,104,667	T788K	possibly damaging	Het
Ppp3r2	T	C	4: 49,681,902	D16G	possibly damaging	Het
Prdm16	A	T	4: 154,342,056	I424N	probably damaging	Het
Psen2	T	A	1: 180,228,845	I396F	probably damaging	Het
Psip1	C	T	4: 83,485,712		probably null	Het
Ptprd	G	A	4: 76,136,846	T215I	probably damaging	Het
Rec114	A	G	9: 58,741,539	S2P	probably benign	Het
Rexo1	A	G	10: 80,542,576	I1181T	probably damaging	Het
Rfx7	T	C	9: 72,619,836	M1436T	probably benign	Het
Rnf213	T	A	11: 119,426,111	V1020E	possibly damaging	Het
Rorc	G	A	3: 94,388,762	G83S	probably damaging	Het
Ryr2	T	G	13: 11,668,839	Q3113P	possibly damaging	Het
Shank1	T	C	7: 44,353,977	S1698P	possibly damaging	Het
Slc2a2	T	C	3: 28,708,679		probably null	Het
Slc5a9	A	T	4: 111,891,836	Y98*	probably null	Het
Smc6	T	C	12: 11,283,174		probably null	Het
Sptb	G	T	12: 76,600,383	F1959L	probably benign	Het
Srgap1	T	A	10: 121,785,705	H984L	possibly damaging	Het
Ssc5d	T	A	7: 4,928,467	C224*	probably null	Het
St5	A	T	7: 109,538,949	V753E	probably damaging	Het
Ston2	A	T	12: 91,647,860	H591Q	probably benign	Het
Tbx3	C	T	5: 119,675,250	A222V	possibly damaging	Het
Thsd7a	A	G	6: 12,321,887		probably null	Het
Usp9y	T	C	Y: 1,364,732	D1027G	probably damaging	Het
Wnt5a	C	T	14: 28,518,504	R184*	probably null	Het
Zfpm2	A	G	15: 40,774,066	E74G	possibly damaging	Het
Zwint	C	A	10: 72,657,295	S223*	probably null	Het

Other mutations in Acbd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03215:Acbd3	APN	1	180745105	missense	possibly damaging	0.61
R0321:Acbd3	UTSW	1	180752305	missense	probably damaging	1.00
R0524:Acbd3	UTSW	1	180747059	small deletion	probably benign
R0733:Acbd3	UTSW	1	180752218	missense	possibly damaging	0.75
R0884:Acbd3	UTSW	1	180747059	small deletion	probably benign
R1074:Acbd3	UTSW	1	180738548	nonsense	probably null
R1327:Acbd3	UTSW	1	180733183	missense	possibly damaging	0.95
R1352:Acbd3	UTSW	1	180738530	missense	probably damaging	1.00
R1820:Acbd3	UTSW	1	180745138	missense	probably benign	0.13
R4697:Acbd3	UTSW	1	180721944	unclassified	probably benign
R5187:Acbd3	UTSW	1	180736732	nonsense	probably null
R5217:Acbd3	UTSW	1	180726373	missense	probably benign	0.18
R5368:Acbd3	UTSW	1	180722095	unclassified	probably benign
R6018:Acbd3	UTSW	1	180752338	missense	possibly damaging	0.88
R7072:Acbd3	UTSW	1	180726369	missense	probably benign
R7366:Acbd3	UTSW	1	180734499	missense	probably benign	0.41
X0027:Acbd3	UTSW	1	180747030	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- CGATGTGGCGATGTGCTTAGTACTC -3'
(R):5'- GTTAGGACACTGGCCTACACAACTC -3'

Sequencing Primer
(F):5'- ATGAACAGTCTCCTGTTGTCAG -3'
(R):5'- cgcctgcctctgccttc -3'

Posted On

2013-05-09