Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01595:Acbd5'

93395

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 #

IGL01595

Quality Score

Status

Chromosome

Chromosomal Location

22958189-23004525 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22968181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 111 (M111V)

Ref Sequence

ENSEMBL: ENSMUSP00000154043 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028121] [ENSMUST00000114523] [ENSMUST00000114526] [ENSMUST00000114529] [ENSMUST00000144088] [ENSMUST00000155602] [ENSMUST00000226571] [ENSMUST00000227809] [ENSMUST00000227663] [ENSMUST00000228050]

AlphaFold

Q5XG73

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028121
AA Change: M75V

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028121
Gene: ENSMUSG00000026781
AA Change: M75V

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

possibly damaging
Transcript: ENSMUST00000114523
AA Change: M75V

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110169
Gene: ENSMUSG00000026781
AA Change: M75V

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: M111V

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110172
Gene: ENSMUSG00000026781
AA Change: M111V

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

possibly damaging
Transcript: ENSMUST00000114529
AA Change: M111V

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110175
Gene: ENSMUSG00000026781
AA Change: M111V

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: ENSMUST00000144088

SMART Domains

Protein: ENSMUSP00000121395
Gene: ENSMUSG00000026781

Domain	Start	End	E-Value	Type
Pfam:ACBP	8	52	4.4e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000155602
AA Change: M75V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117325
Gene: ENSMUSG00000026781
AA Change: M75V

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

possibly damaging
Transcript: ENSMUST00000226571
AA Change: M111V

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227809
AA Change: M75V

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227663
AA Change: M75V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228050
AA Change: M111V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228778

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226938

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	A	T	10: 61,041,252 (GRCm39)	H819Q	probably damaging	Het
Adamts7	T	A	9: 90,075,359 (GRCm39)	N1072K	probably benign	Het
Ahnak	T	A	19: 8,980,865 (GRCm39)	Y716*	probably null	Het
Arfgef3	T	C	10: 18,470,660 (GRCm39)	K1702E	possibly damaging	Het
BB014433	C	A	8: 15,092,499 (GRCm39)		probably null	Het
Bdnf	A	T	2: 109,554,273 (GRCm39)	K176*	probably null	Het
C2cd5	C	T	6: 142,963,748 (GRCm39)	R879H	probably damaging	Het
Capn11	T	A	17: 45,950,360 (GRCm39)	H327L	probably benign	Het
Ccdc68	A	G	18: 70,089,117 (GRCm39)	N220S	probably benign	Het
Cftr	T	C	6: 18,198,238 (GRCm39)		probably benign	Het
Clca3a2	G	A	3: 144,793,768 (GRCm39)	L296F	probably damaging	Het
Cubn	A	T	2: 13,330,027 (GRCm39)	L2618Q	probably benign	Het
Gfi1b	A	G	2: 28,501,429 (GRCm39)		probably null	Het
Gpr37	G	T	6: 25,669,572 (GRCm39)	T424N	probably damaging	Het
Kank3	G	A	17: 34,038,154 (GRCm39)		probably null	Het
Kcnh5	T	C	12: 74,945,101 (GRCm39)	Q716R	probably benign	Het
Kntc1	G	A	5: 123,941,758 (GRCm39)	M1817I	probably benign	Het
Krt79	T	G	15: 101,840,206 (GRCm39)	E330A	probably damaging	Het
Mapk15	C	A	15: 75,867,129 (GRCm39)	P82Q	probably benign	Het
Myh15	A	T	16: 48,993,312 (GRCm39)	D1649V	probably damaging	Het
Myo1d	T	C	11: 80,566,936 (GRCm39)	I326V	probably benign	Het
Nek9	A	T	12: 85,361,194 (GRCm39)	W504R	probably damaging	Het
Nlrp4c	T	A	7: 6,069,111 (GRCm39)	C337*	probably null	Het
Nup160	A	G	2: 90,560,081 (GRCm39)	N1269D	probably damaging	Het
Or52e3	A	G	7: 102,869,558 (GRCm39)	D211G	probably damaging	Het
Or56b2	T	C	7: 104,337,285 (GRCm39)	M21T	possibly damaging	Het
Or8c10	T	C	9: 38,279,346 (GRCm39)	V168A	probably benign	Het
Pde6a	A	G	18: 61,414,599 (GRCm39)	M36V	probably damaging	Het
Perp	A	G	10: 18,731,407 (GRCm39)	Q122R	probably damaging	Het
S100a7a	T	C	3: 90,565,107 (GRCm39)	Y101H	probably benign	Het
Sbk2	C	A	7: 4,960,712 (GRCm39)	V153L	possibly damaging	Het
Serpinb7	A	T	1: 107,356,052 (GRCm39)	N25I	probably damaging	Het
Tbx5	A	T	5: 119,978,903 (GRCm39)	D105V	probably damaging	Het
Trip6	T	A	5: 137,311,675 (GRCm39)	T101S	probably benign	Het
Ush2a	T	A	1: 188,386,921 (GRCm39)		probably null	Het

Other mutations in Acbd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-12-09