Mutagenetix > Incidental Mutation

Incidental Mutation 'R5217:Acbd3'

472441

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

042790-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5217 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

180553608-180581769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180553938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 91 (Y91C)

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: Y91C

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000027780
Gene: ENSMUSG00000026499
AA Change: Y91C

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: ENSMUST00000192796

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

100% (80/80)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933428M09Rik	G	T	X: 138,080,282 (GRCm39)	G16*	probably null	Het
Abhd11	T	A	5: 135,040,398 (GRCm39)	W144R	probably damaging	Het
Abhd2	A	G	7: 78,973,378 (GRCm39)	E119G	probably benign	Het
Aox4	C	A	1: 58,285,400 (GRCm39)	S628*	probably null	Het
Bahcc1	T	A	11: 120,165,285 (GRCm39)	Y905*	probably null	Het
Baiap2l2	T	G	15: 79,154,687 (GRCm39)	S211R	probably benign	Het
Cab39l	T	A	14: 59,764,258 (GRCm39)	Y206*	probably null	Het
Cacna1i	A	T	15: 80,275,041 (GRCm39)	T1830S	possibly damaging	Het
Catsperg1	A	T	7: 28,889,723 (GRCm39)	L793*	probably null	Het
Cdh10	G	T	15: 18,966,108 (GRCm39)	V198F	probably damaging	Het
Cenpk	A	T	13: 104,385,917 (GRCm39)	I271F	probably damaging	Het
Chchd4	A	T	6: 91,442,260 (GRCm39)	C53S	probably damaging	Het
Cluh	T	G	11: 74,550,531 (GRCm39)	C252W	probably damaging	Het
Cmklr1	G	T	5: 113,752,710 (GRCm39)	A97E	probably damaging	Het
Coil	C	A	11: 88,871,987 (GRCm39)	A116D	possibly damaging	Het
Eif1ad9	A	G	12: 88,296,196 (GRCm39)	H58R	probably benign	Het
F830045P16Rik	C	A	2: 129,305,493 (GRCm39)	V294F	probably damaging	Het
Fgd6	T	A	10: 93,969,939 (GRCm39)	M1196K	possibly damaging	Het
Gabra5	G	A	7: 57,140,604 (GRCm39)	S31L	probably benign	Het
Gm7135	A	T	1: 97,362,790 (GRCm39)		noncoding transcript	Het
Gon4l	C	A	3: 88,794,882 (GRCm39)	T695K	probably damaging	Het
Hectd4	A	G	5: 121,491,614 (GRCm39)	H3684R	possibly damaging	Het
Ica1l	T	A	1: 60,054,917 (GRCm39)	M105L	probably benign	Het
Ift70a1	A	G	2: 75,811,147 (GRCm39)	L312P	probably damaging	Het
Igkv8-24	A	T	6: 70,194,386 (GRCm39)	V7D	probably damaging	Het
Klf10	G	A	15: 38,296,331 (GRCm39)	R420W	probably damaging	Het
Klrc2	C	A	6: 129,633,843 (GRCm39)	W177C	probably damaging	Het
Krit1	T	A	5: 3,856,451 (GRCm39)	C15*	probably null	Het
Lamc1	C	A	1: 153,103,442 (GRCm39)	V1375L	probably damaging	Het
Lrrc37a	C	T	11: 103,347,780 (GRCm39)	V2972I	unknown	Het
Mapkapk5	T	C	5: 121,672,492 (GRCm39)	D13G	probably damaging	Het
Mcph1	T	A	8: 18,838,489 (GRCm39)	L804I	probably damaging	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Mrto4	A	G	4: 139,075,770 (GRCm39)	Y119H	probably benign	Het
Nbeal2	G	T	9: 110,461,158 (GRCm39)	A1635E	possibly damaging	Het
Ndc1	T	C	4: 107,246,773 (GRCm39)	S399P	probably benign	Het
Ndufv2	A	G	17: 66,394,424 (GRCm39)	I147T	probably damaging	Het
Neb	C	A	2: 52,052,142 (GRCm39)	E382*	probably null	Het
Nhsl3	C	T	4: 129,116,478 (GRCm39)	E729K	probably damaging	Het
Nme8	T	A	13: 19,880,861 (GRCm39)	I32F	probably damaging	Het
Obox5	T	A	7: 15,491,793 (GRCm39)		probably null	Het
Or8g23	A	G	9: 38,971,065 (GRCm39)	V299A	probably benign	Het
Pcdhb19	A	T	18: 37,630,939 (GRCm39)	M245L	probably benign	Het
Pex5l	A	T	3: 33,061,477 (GRCm39)		probably null	Het
Phrf1	T	G	7: 140,840,616 (GRCm39)	D1270E	probably damaging	Het
Pik3r5	A	G	11: 68,382,790 (GRCm39)	K277E	possibly damaging	Het
Ppan	T	C	9: 20,802,221 (GRCm39)	V204A	possibly damaging	Het
Ppp1r9a	A	T	6: 5,115,367 (GRCm39)	N830I	probably damaging	Het
Pxn	C	G	5: 115,682,974 (GRCm39)	A92G	probably benign	Het
Qsox1	A	G	1: 155,666,742 (GRCm39)	V249A	probably benign	Het
Rgl3	T	A	9: 21,898,944 (GRCm39)	*88C	probably null	Het
Rps6kc1	A	T	1: 190,515,802 (GRCm39)	W975R	probably damaging	Het
Sash1	G	T	10: 8,656,368 (GRCm39)	A208D	possibly damaging	Het
Simc1	A	T	13: 54,687,709 (GRCm39)		probably benign	Het
Sox7	T	C	14: 64,185,449 (GRCm39)	Y162H	probably damaging	Het
Srp72	T	A	5: 77,128,375 (GRCm39)	L171H	probably damaging	Het
Stab1	T	A	14: 30,881,476 (GRCm39)	Y577F	probably benign	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Tagln	T	C	9: 45,842,177 (GRCm39)	T139A	probably benign	Het
Thbs3	T	C	3: 89,130,471 (GRCm39)		probably null	Het
Tmem216	G	A	19: 10,529,155 (GRCm39)	T131M	possibly damaging	Het
Tmprss11c	A	G	5: 86,404,249 (GRCm39)	V142A	probably benign	Het
Trarg1	C	G	11: 76,585,102 (GRCm39)	A164G	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubtf	T	C	11: 102,199,128 (GRCm39)	M511V	probably null	Het
Ugt2b36	A	T	5: 87,214,114 (GRCm39)	V510E	probably damaging	Het
Vars2	G	C	17: 35,969,041 (GRCm39)	P887A	probably damaging	Het
Vmn2r80	A	G	10: 79,004,980 (GRCm39)	M206V	possibly damaging	Het
Zbtb5	A	G	4: 44,993,990 (GRCm39)	F465L	probably benign	Het
Zfp119a	G	A	17: 56,172,425 (GRCm39)	Q473*	probably null	Het
Zfp607a	T	G	7: 27,577,269 (GRCm39)	I113R	probably damaging	Het
Zfp998	A	T	13: 66,581,787 (GRCm39)	L28H	probably damaging	Het
Zmym6	C	A	4: 126,999,167 (GRCm39)	N450K	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
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'- TGAACGTAGAGCAGCTCGAG -3'
(R):5'- AAACCAGGGTTCTAGGTCTCTC -3'

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

Posted On

2017-04-03