Mutagenetix > Incidental Mutation

Incidental Mutation 'R8276:Acbd5'

637965

Institutional Source

Beutler Lab

Gene Symbol

Acbd5

Ensembl Gene

ENSMUSG00000026781

Gene Name

acyl-Coenzyme A binding domain containing 5

Synonyms

1300014E15Rik

MMRRC Submission

067699-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22958189-23004525 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22959563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 39 (D39G)

Ref Sequence

ENSEMBL: ENSMUSP00000110175 (fasta)

Gene Model

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

AlphaFold

Q5XG73

Predicted Effect

probably benign
Transcript: ENSMUST00000028121
AA Change: D3G

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000028121
Gene: ENSMUSG00000026781
AA Change: D3G

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: D3G

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000110169
Gene: ENSMUSG00000026781
AA Change: D3G

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: D39G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000110172
Gene: ENSMUSG00000026781
AA Change: D39G

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: D39G

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000110175
Gene: ENSMUSG00000026781
AA Change: D39G

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
AA Change: D3G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000121395
Gene: ENSMUSG00000026781
AA Change: D3G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000155602
AA Change: D3G

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000117325
Gene: ENSMUSG00000026781
AA Change: D3G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (44/45)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,385,885 (GRCm39)	R27W	probably damaging	Het
Amdhd2	C	G	17: 24,382,574 (GRCm39)	R22P	probably damaging	Het
Ankmy1	T	C	1: 92,814,531 (GRCm39)	I325M	probably benign	Het
Cyld	A	G	8: 89,461,556 (GRCm39)	I664M	probably benign	Het
Dnajc10	T	C	2: 80,179,614 (GRCm39)	M716T	probably benign	Het
Dock10	T	A	1: 80,505,998 (GRCm39)	T1743S	probably benign	Het
Dop1a	T	C	9: 86,399,092 (GRCm39)	S947P	probably benign	Het
Ep300	C	G	15: 81,534,229 (GRCm39)	N2095K	possibly damaging	Het
Evi2a	T	A	11: 79,418,316 (GRCm39)	N98I	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Far2	G	T	6: 148,075,399 (GRCm39)	V420L	probably benign	Het
Gng5	A	G	3: 146,206,258 (GRCm39)		probably benign	Het
Heatr5b	G	A	17: 79,098,968 (GRCm39)	R1311*	probably null	Het
Hhipl2	A	T	1: 183,217,328 (GRCm39)	K478M	possibly damaging	Het
Hs3st1	A	T	5: 39,772,146 (GRCm39)	Y166N	probably damaging	Het
Jcad	T	A	18: 4,674,318 (GRCm39)	S693R	probably damaging	Het
Kcnmb3	A	G	3: 32,536,572 (GRCm39)	L52P	probably damaging	Het
Mib1	T	C	18: 10,751,880 (GRCm39)	I254T	possibly damaging	Het
Myo18b	T	C	5: 112,943,273 (GRCm39)	K1644R	possibly damaging	Het
Nherf2	G	T	17: 24,861,234 (GRCm39)	Y175*	probably null	Het
Nlrp2	G	A	7: 5,320,494 (GRCm39)	T881M	probably benign	Het
Or11h23	T	A	14: 50,948,287 (GRCm39)	S167T	probably benign	Het
Or52h9	A	T	7: 104,202,522 (GRCm39)	Y132F	probably damaging	Het
Pkd1l3	A	C	8: 110,397,353 (GRCm39)	*2152C	probably null	Het
Polr2a	G	A	11: 69,638,882 (GRCm39)	R51C	probably damaging	Het
Ptpru	C	T	4: 131,506,484 (GRCm39)	G1026D	probably damaging	Het
Rbm46	A	G	3: 82,771,895 (GRCm39)	V240A	probably damaging	Het
Rrm1	G	A	7: 102,110,059 (GRCm39)		probably null	Het
Ryr3	T	C	2: 112,470,962 (GRCm39)	D4637G	probably damaging	Het
Selenos	G	A	7: 65,729,552 (GRCm39)		probably benign	Het
Serpina1e	G	T	12: 103,913,428 (GRCm39)	T364K	probably damaging	Het
Shroom3	A	T	5: 93,088,339 (GRCm39)	Q363L	probably damaging	Het
Slc9b1	A	C	3: 135,077,658 (GRCm39)	E139D	possibly damaging	Het
Tjp1	A	T	7: 64,993,544 (GRCm39)		probably benign	Het
Tmcc3	A	T	10: 94,418,170 (GRCm39)	T344S	probably damaging	Het
Tnrc6b	T	A	15: 80,764,918 (GRCm39)	S807T	probably benign	Het
Trav7-6	A	T	14: 53,954,695 (GRCm39)	H95L	probably benign	Het
Trmu	T	A	15: 85,766,932 (GRCm39)	V47D	possibly damaging	Het
Uba6	C	A	5: 86,290,509 (GRCm39)		probably benign	Het
Unc79	A	G	12: 102,968,122 (GRCm39)	D116G	possibly damaging	Het
Vmn2r93	G	A	17: 18,525,649 (GRCm39)		probably null	Het
Zfp541	A	T	7: 15,813,009 (GRCm39)	H554L	possibly damaging	Het
Zfp618	A	G	4: 63,051,193 (GRCm39)	H658R	probably damaging	Het
Zmym1	A	T	4: 126,948,051 (GRCm39)	Y107N	probably 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
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
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'- CCTTGATTGGGCAGGCAAAG -3'
(R):5'- GATAATACGTCGCCTTTGGC -3'

Sequencing Primer
(F):5'- GGGGAATTGACCAGCTATGCTC -3'
(R):5'- TTTGGCCTCAAAAATCAGCGG -3'

Posted On

2020-07-28