Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03087:Acbd5'

418156

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acbd5

Ensembl Gene

ENSMUSG00000026781

Gene Name

acyl-Coenzyme A binding domain containing 5

Synonyms

1300014E15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03087

Quality Score

Status

Chromosome

Chromosomal Location

22958189-23004525 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22979722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 261 (T261A)

Ref Sequence

ENSEMBL: ENSMUSP00000154043 (fasta)

Gene Model

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

AlphaFold

Q5XG73

Predicted Effect

probably benign
Transcript: ENSMUST00000028121
AA Change: T214A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028121
Gene: ENSMUSG00000026781
AA Change: T214A

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 benign
Transcript: ENSMUST00000114523
AA Change: T214A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110169
Gene: ENSMUSG00000026781
AA Change: T214A

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 benign
Transcript: ENSMUST00000114526
AA Change: T250A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110172
Gene: ENSMUSG00000026781
AA Change: T250A

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 benign
Transcript: ENSMUST00000114529
AA Change: T250A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110175
Gene: ENSMUSG00000026781
AA Change: T250A

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 benign
Transcript: ENSMUST00000155602
AA Change: T225A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117325
Gene: ENSMUSG00000026781
AA Change: T225A

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 benign
Transcript: ENSMUST00000226571
AA Change: T261A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000227663
AA Change: T225A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000227809
AA Change: T214A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000228050
AA Change: T261A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228856

Coding Region Coverage

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	C	T	5: 25,202,630 (GRCm39)		probably benign	Het
Ap1g2	G	A	14: 55,340,493 (GRCm39)	T331I	probably damaging	Het
Ap4m1	A	G	5: 138,173,066 (GRCm39)	T150A	probably benign	Het
Arid4a	G	T	12: 71,122,019 (GRCm39)	R478L	possibly damaging	Het
Bard1	T	C	1: 71,106,289 (GRCm39)	D446G	probably damaging	Het
Baz2a	T	C	10: 127,958,182 (GRCm39)	L1087P	probably damaging	Het
Bnc1	A	G	7: 81,624,390 (GRCm39)	L279P	possibly damaging	Het
Bphl	A	T	13: 34,257,694 (GRCm39)	H275L	probably damaging	Het
Ces1c	T	C	8: 93,845,042 (GRCm39)	I120V	probably benign	Het
Csmd3	T	A	15: 47,840,429 (GRCm39)	Y946F	probably damaging	Het
Dnah8	G	A	17: 31,003,118 (GRCm39)	V3606I	probably benign	Het
Eef2	A	G	10: 81,017,081 (GRCm39)	N696S	probably benign	Het
Eno4	A	G	19: 58,951,248 (GRCm39)	H420R	possibly damaging	Het
Enpp1	T	A	10: 24,531,779 (GRCm39)		probably benign	Het
Fbxo25	T	C	8: 13,974,019 (GRCm39)		probably null	Het
Glt8d1	T	A	14: 30,732,053 (GRCm39)	F155I	probably damaging	Het
Golim4	A	T	3: 75,785,980 (GRCm39)	H598Q	possibly damaging	Het
Hnrnpdl	T	A	5: 100,185,460 (GRCm39)	E149D	probably damaging	Het
Ifngr2	G	T	16: 91,359,892 (GRCm39)	*333L	probably null	Het
Ift88	T	C	14: 57,715,414 (GRCm39)	S486P	probably benign	Het
Igsf9	T	C	1: 172,318,310 (GRCm39)	I150T	probably benign	Het
Jag2	G	A	12: 112,877,568 (GRCm39)	L670F	possibly damaging	Het
Kcnc2	T	A	10: 112,291,652 (GRCm39)	I280N	probably benign	Het
Kif18a	A	G	2: 109,148,462 (GRCm39)		probably benign	Het
Lct	A	G	1: 128,228,112 (GRCm39)	L1127P	possibly damaging	Het
Lonrf1	A	T	8: 36,692,705 (GRCm39)		probably null	Het
Lyst	T	A	13: 13,809,641 (GRCm39)	I437N	probably damaging	Het
Map3k1	A	G	13: 111,885,559 (GRCm39)	S1453P	probably benign	Het
Mcmdc2	A	G	1: 10,001,170 (GRCm39)	M482V	possibly damaging	Het
Mical1	T	C	10: 41,358,686 (GRCm39)	S535P	probably damaging	Het
Myh3	T	C	11: 66,981,798 (GRCm39)	F765L	probably damaging	Het
Nat8f6	A	T	6: 85,785,499 (GRCm39)	Y217N	probably damaging	Het
Ndufaf1	A	G	2: 119,486,280 (GRCm39)		probably benign	Het
Neurod6	A	T	6: 55,655,760 (GRCm39)	C292*	probably null	Het
Or12j3	T	A	7: 139,953,005 (GRCm39)	I173F	probably damaging	Het
Or4c12b	A	G	2: 89,647,015 (GRCm39)	E109G	probably damaging	Het
Or5j1	A	T	2: 86,879,356 (GRCm39)	S75T	possibly damaging	Het
Or6c76	A	T	10: 129,612,130 (GRCm39)	M116L	probably damaging	Het
Or7g16	T	C	9: 18,727,380 (GRCm39)	D70G	probably damaging	Het
Pcdhac2	A	G	18: 37,278,735 (GRCm39)	N572D	probably damaging	Het
Pfpl	A	G	19: 12,406,241 (GRCm39)	N164S	probably benign	Het
Pi4kb	A	G	3: 94,892,075 (GRCm39)	R264G	probably benign	Het
Pla2g2c	T	A	4: 138,458,923 (GRCm39)	F10I	probably benign	Het
Rag2	G	A	2: 101,460,559 (GRCm39)	V290I	probably benign	Het
Rhot2	G	A	17: 26,060,115 (GRCm39)		probably benign	Het
Rps6kc1	T	C	1: 190,603,908 (GRCm39)	Y238C	probably damaging	Het
Scyl2	G	T	10: 89,488,830 (GRCm39)	A495D	possibly damaging	Het
Septin4	T	A	11: 87,476,071 (GRCm39)		probably benign	Het
Serpina5	G	T	12: 104,067,992 (GRCm39)	A18S	probably benign	Het
Slc25a11	T	C	11: 70,536,033 (GRCm39)	T234A	probably benign	Het
Slc44a2	C	T	9: 21,258,061 (GRCm39)	T435I	probably benign	Het
Tekt2	T	A	4: 126,218,660 (GRCm39)	Q31L	possibly damaging	Het
Tfpi	A	G	2: 84,274,389 (GRCm39)	V199A	possibly damaging	Het
Trap1	G	T	16: 3,862,565 (GRCm39)		probably null	Het
Trmt1	A	G	8: 85,421,862 (GRCm39)	Y213C	probably damaging	Het
Ubr4	C	T	4: 139,177,668 (GRCm39)	R3184*	probably null	Het
Uroc1	G	T	6: 90,340,085 (GRCm39)		probably benign	Het
Vmn1r19	A	G	6: 57,381,476 (GRCm39)	I10V	probably benign	Het
Zfhx2	G	A	14: 55,310,302 (GRCm39)	A748V	possibly damaging	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
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
R1610:Acbd5	UTSW	2	22,980,563 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2016-08-02