Mutagenetix > Incidental Mutation

Incidental Mutation 'R1610:Acbd5'

176706

Institutional Source

Beutler Lab

Gene Symbol

Acbd5

Ensembl Gene

ENSMUSG00000026781

Gene Name

acyl-Coenzyme A binding domain containing 5

Synonyms

1300014E15Rik

MMRRC Submission

039647-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1610 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22958189-23004525 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 22980563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 312 (C312Y)

Ref Sequence

ENSEMBL: ENSMUSP00000154043 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028121] [ENSMUST00000114523] [ENSMUST00000114526] [ENSMUST00000114529] [ENSMUST00000155602] [ENSMUST00000226571] [ENSMUST00000227809] [ENSMUST00000227663] [ENSMUST00000228050]

AlphaFold

Q5XG73

Predicted Effect

probably damaging
Transcript: ENSMUST00000028121
AA Change: C265Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028121
Gene: ENSMUSG00000026781
AA Change: C265Y

Domain	Start	End	E-Value	Type
Pfam:ACBP	8	96	3.4e-35	PFAM
low complexity region	117	130	N/A	INTRINSIC
coiled coil region	152	179	N/A	INTRINSIC
low complexity region	208	220	N/A	INTRINSIC
low complexity region	310	325	N/A	INTRINSIC
coiled coil region	392	414	N/A	INTRINSIC
transmembrane domain	442	464	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114523
AA Change: C265Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110169
Gene: ENSMUSG00000026781
AA Change: C265Y

Domain	Start	End	E-Value	Type
Pfam:ACBP	8	96	2.4e-35	PFAM
low complexity region	117	130	N/A	INTRINSIC
coiled coil region	152	179	N/A	INTRINSIC
low complexity region	208	220	N/A	INTRINSIC
low complexity region	310	325	N/A	INTRINSIC
coiled coil region	393	415	N/A	INTRINSIC
transmembrane domain	443	465	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114526
AA Change: C301Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110172
Gene: ENSMUSG00000026781
AA Change: C301Y

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
Pfam:ACBP	44	132	4.7e-35	PFAM
low complexity region	153	166	N/A	INTRINSIC
coiled coil region	188	215	N/A	INTRINSIC
low complexity region	244	256	N/A	INTRINSIC
low complexity region	346	361	N/A	INTRINSIC
coiled coil region	428	450	N/A	INTRINSIC
transmembrane domain	478	500	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114529
AA Change: C301Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110175
Gene: ENSMUSG00000026781
AA Change: C301Y

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
Pfam:ACBP	45	129	4.9e-30	PFAM
low complexity region	153	166	N/A	INTRINSIC
coiled coil region	188	215	N/A	INTRINSIC
low complexity region	244	256	N/A	INTRINSIC
low complexity region	346	361	N/A	INTRINSIC
coiled coil region	429	451	N/A	INTRINSIC
transmembrane domain	479	501	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000155602
AA Change: C276Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117325
Gene: ENSMUSG00000026781
AA Change: C276Y

Domain	Start	End	E-Value	Type
Pfam:ACBP	8	96	3.5e-36	PFAM
low complexity region	117	130	N/A	INTRINSIC
low complexity region	146	157	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226252

Predicted Effect

probably damaging
Transcript: ENSMUST00000226571
AA Change: C312Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227809
AA Change: C265Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227663
AA Change: C276Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228050
AA Change: C312Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228856

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A related protein in yeast is involved in autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	T	A	8: 84,659,002 (GRCm39)	M601K	probably benign	Het
Agbl4	G	A	4: 111,514,365 (GRCm39)	E459K	probably benign	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Casz1	C	T	4: 149,013,544 (GRCm39)	A36V	possibly damaging	Het
Cfap20dc	G	T	14: 8,511,110 (GRCm38)	H435N	probably benign	Het
Chpf	A	G	1: 75,453,292 (GRCm39)	V327A	probably damaging	Het
Cldn23	A	G	8: 36,293,084 (GRCm39)	Y135H	probably damaging	Het
Cobll1	C	T	2: 64,963,986 (GRCm39)	D211N	probably damaging	Het
Cramp1	A	G	17: 25,202,925 (GRCm39)	V368A	probably benign	Het
Dnah6	T	C	6: 73,121,946 (GRCm39)	T1374A	probably benign	Het
Dpyd	A	G	3: 118,858,655 (GRCm39)	H623R	probably benign	Het
Dyrk2	T	C	10: 118,695,830 (GRCm39)	N476S	probably benign	Het
Endog	A	T	2: 30,063,899 (GRCm39)	I267F	probably damaging	Het
Ephb6	A	T	6: 41,591,307 (GRCm39)	K155*	probably null	Het
Far2	T	C	6: 148,058,956 (GRCm39)	V214A	possibly damaging	Het
Fat2	A	G	11: 55,169,750 (GRCm39)	V3003A	probably damaging	Het
Frg2f1	T	A	4: 119,388,485 (GRCm39)	T5S	possibly damaging	Het
Gm14496	A	T	2: 181,637,972 (GRCm39)	T349S	probably benign	Het
Golgb1	A	G	16: 36,746,463 (GRCm39)	T2951A	probably benign	Het
Hc	G	T	2: 34,896,173 (GRCm39)	D1203E	probably benign	Het
Isg20	C	A	7: 78,564,257 (GRCm39)	Q55K	possibly damaging	Het
Jph4	G	T	14: 55,351,560 (GRCm39)	A152E	probably damaging	Het
Kcnq3	T	C	15: 65,897,109 (GRCm39)	T264A	probably damaging	Het
Kcnq5	T	G	1: 21,527,685 (GRCm39)	T463P	probably damaging	Het
Klra8	A	G	6: 130,095,981 (GRCm39)	S204P	probably damaging	Het
Ldlrad1	A	G	4: 107,072,072 (GRCm39)	D98G	probably damaging	Het
Lhfpl4	T	C	6: 113,171,097 (GRCm39)	T30A	possibly damaging	Het
Lig1	T	A	7: 13,019,266 (GRCm39)	L80Q	probably damaging	Het
Lmbrd2	A	G	15: 9,186,699 (GRCm39)	Y558C	probably benign	Het
Lrrn3	G	T	12: 41,502,992 (GRCm39)	L442I	possibly damaging	Het
Mc2r	A	G	18: 68,540,519 (GRCm39)	F258S	probably damaging	Het
Mmp16	A	G	4: 18,011,582 (GRCm39)	T137A	probably benign	Het
Nfatc2ip	A	T	7: 125,986,579 (GRCm39)	S359T	probably damaging	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Nup50l	G	T	6: 96,142,270 (GRCm39)	P258Q	probably damaging	Het
Or10a48	T	A	7: 108,425,131 (GRCm39)	H25L	probably benign	Het
Or4c15b	T	C	2: 89,113,165 (GRCm39)	H104R	probably damaging	Het
Or4s2b	A	T	2: 88,508,918 (GRCm39)	K233*	probably null	Het
Or8b1b	C	T	9: 38,375,927 (GRCm39)	L197F	probably damaging	Het
Pacc1	A	G	1: 191,077,262 (GRCm39)	D195G	probably benign	Het
Plagl1	C	T	10: 13,004,706 (GRCm39)		probably benign	Het
Plxnb2	A	T	15: 89,042,696 (GRCm39)	S1531T	probably damaging	Het
Ptpn22	G	A	3: 103,809,512 (GRCm39)		probably null	Het
Rtn1	T	A	12: 72,266,053 (GRCm39)	Q174L	possibly damaging	Het
Selenoo	A	G	15: 88,984,119 (GRCm39)	E645G	probably benign	Het
Serpina1a	A	C	12: 103,820,096 (GRCm39)	D383E	possibly damaging	Het
Slc6a18	T	A	13: 73,816,344 (GRCm39)	Y345F	probably benign	Het
Smbd1	A	G	16: 32,627,135 (GRCm39)	V51A	possibly damaging	Het
Tchh	C	T	3: 93,352,146 (GRCm39)	R529W	unknown	Het
Tonsl	A	T	15: 76,522,757 (GRCm39)	Y165N	probably damaging	Het
Trdmt1	G	A	2: 13,520,870 (GRCm39)	T344I	probably damaging	Het
Ubash3b	C	A	9: 40,954,796 (GRCm39)	R116L	probably damaging	Het
Vmn2r94	A	G	17: 18,463,995 (GRCm39)	V765A	probably damaging	Het
Zfp474	C	T	18: 52,771,437 (GRCm39)	T30I	probably benign	Het

Other mutations in Acbd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01595:Acbd5	APN	2	22,968,181 (GRCm39)	missense	probably damaging	1.00
IGL02343:Acbd5	APN	2	22,977,507 (GRCm39)	missense	possibly damaging	0.89
IGL03087:Acbd5	APN	2	22,979,722 (GRCm39)	missense	probably benign
R0723:Acbd5	UTSW	2	22,959,608 (GRCm39)	missense	probably damaging	1.00
R1428:Acbd5	UTSW	2	22,989,733 (GRCm39)	missense	probably damaging	0.99
R1623:Acbd5	UTSW	2	22,984,356 (GRCm39)	missense	probably damaging	1.00
R2918:Acbd5	UTSW	2	22,989,579 (GRCm39)	missense	probably benign	0.00
R4736:Acbd5	UTSW	2	22,989,596 (GRCm39)	missense	probably damaging	0.96
R5369:Acbd5	UTSW	2	23,002,522 (GRCm39)	missense	probably damaging	0.96
R6207:Acbd5	UTSW	2	22,959,490 (GRCm39)	missense	possibly damaging	0.58
R6599:Acbd5	UTSW	2	22,959,092 (GRCm39)	start gained	probably benign
R8276:Acbd5	UTSW	2	22,959,563 (GRCm39)	missense	probably benign	0.05
R8529:Acbd5	UTSW	2	22,970,704 (GRCm39)	missense	probably benign	0.00
R8690:Acbd5	UTSW	2	22,979,710 (GRCm39)	missense	probably benign	0.11
R8867:Acbd5	UTSW	2	22,970,370 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- AGACCGATTTCTCTCCCAGAATGAGT -3'
(R):5'- TTTAGCAGAGAGCCACAGCCCA -3'

Sequencing Primer
(F):5'- ttctctcccagaaTGAGTATAATGCC -3'
(R):5'- gaccttctacatcccatctcac -3'

Posted On

2014-04-24