Mutagenetix > Incidental Mutation

Incidental Mutation 'R8529:Acbd5'

658922

Institutional Source

Beutler Lab

Gene Symbol

Acbd5

Ensembl Gene

ENSMUSG00000026781

Gene Name

acyl-Coenzyme A binding domain containing 5

Synonyms

1300014E15Rik

MMRRC Submission

068499-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8529 (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 22970704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 173 (Y173C)

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

SMART Domains

Protein: ENSMUSP00000028121
Gene: ENSMUSG00000026781

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

SMART Domains

Protein: ENSMUSP00000110169
Gene: ENSMUSG00000026781

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

SMART Domains

Protein: ENSMUSP00000110172
Gene: ENSMUSG00000026781

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

SMART Domains

Protein: ENSMUSP00000110175
Gene: ENSMUSG00000026781

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: Y137C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117325
Gene: ENSMUSG00000026781
AA Change: Y137C

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

probably benign
Transcript: ENSMUST00000226571
AA Change: Y173C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000227663
AA Change: Y137C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000227809

Predicted Effect

probably benign
Transcript: ENSMUST00000228050
AA Change: Y173C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (52/53)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd55	A	T	13: 112,480,670 (GRCm39)	T192S	probably benign	Het
Apob	A	T	12: 8,057,353 (GRCm39)	H1912L	probably damaging	Het
Bcl2l11	T	C	2: 127,970,796 (GRCm39)	S82P	possibly damaging	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Btnl10	A	T	11: 58,813,238 (GRCm39)	D289V	probably benign	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Cdh11	G	A	8: 103,391,387 (GRCm39)	P283L	probably benign	Het
Crybg3	C	A	16: 59,376,984 (GRCm39)	K1423N	probably damaging	Het
Dgat1	T	A	15: 76,387,237 (GRCm39)	Y350F	probably damaging	Het
Dhx36	TCCGCCGCCGCCGCCGC	TCCGCCGCCGCCGC	3: 62,414,277 (GRCm39)		probably benign	Het
Edc4	A	G	8: 106,611,682 (GRCm39)	D86G	probably damaging	Het
Ep400	T	C	5: 110,867,102 (GRCm39)	Y1014C	unknown	Het
Erbb3	A	G	10: 128,419,069 (GRCm39)	V264A	probably damaging	Het
Fam149b	T	A	14: 20,408,370 (GRCm39)		probably null	Het
Foxc1	A	G	13: 31,992,520 (GRCm39)	S444G	unknown	Het
Gm2042	G	A	12: 87,926,856 (GRCm39)	S391N	possibly damaging	Het
Gnb3	A	T	6: 124,814,633 (GRCm39)	N88K	probably benign	Het
Ifnar2	T	A	16: 91,188,684 (GRCm39)	V157D	possibly damaging	Het
Il27	A	T	7: 126,191,977 (GRCm39)	L53Q	probably damaging	Het
Ints13	T	C	6: 146,464,926 (GRCm39)	E225G	probably damaging	Het
Itpr2	G	A	6: 146,231,051 (GRCm39)	R1167C	probably damaging	Het
Lrp2	A	T	2: 69,330,986 (GRCm39)	I1690K	probably damaging	Het
Lrrc37a	T	C	11: 103,348,373 (GRCm39)	E2774G	unknown	Het
Lyz2	A	T	10: 117,116,568 (GRCm39)	N93K	probably damaging	Het
Mki67	A	G	7: 135,315,688 (GRCm39)		probably null	Het
Mroh1	T	C	15: 76,311,832 (GRCm39)	F522L	probably benign	Het
Myo5a	A	G	9: 75,120,154 (GRCm39)	I1626V	probably benign	Het
Nav3	A	T	10: 109,689,192 (GRCm39)	S362T	probably benign	Het
Neurl4	C	T	11: 69,799,613 (GRCm39)	P972L	probably damaging	Het
Or11i1	A	T	3: 106,729,109 (GRCm39)	Y255*	probably null	Het
Or13p8	A	T	4: 118,583,770 (GRCm39)	T109S	probably benign	Het
Or8a1	A	T	9: 37,642,252 (GRCm39)	V9E	probably damaging	Het
Potefam3b	A	G	8: 21,159,174 (GRCm39)	D176G	possibly damaging	Het
Prdm5	C	T	6: 65,878,829 (GRCm39)	R128C	probably damaging	Het
Prom1	A	T	5: 44,170,369 (GRCm39)		probably null	Het
Prrc2c	T	A	1: 162,536,663 (GRCm39)		probably benign	Het
Prss3b	T	A	6: 41,009,369 (GRCm39)	Y155F	probably benign	Het
Ptprd	T	C	4: 76,047,262 (GRCm39)	T322A	probably damaging	Het
Reg3d	C	G	6: 78,353,382 (GRCm39)	G154R	probably null	Het
Rsf1	A	G	7: 97,320,074 (GRCm39)		probably benign	Het
Ryr1	T	A	7: 28,769,509 (GRCm39)	T2724S	possibly damaging	Het
Sec63	A	G	10: 42,665,379 (GRCm39)	Y103C	probably damaging	Het
Serpinb9b	A	T	13: 33,223,543 (GRCm39)	D245V	probably benign	Het
Slc22a28	G	A	19: 8,040,778 (GRCm39)	T491I	probably benign	Het
Slc24a2	T	C	4: 86,946,517 (GRCm39)	N484S	possibly damaging	Het
Slc44a3	G	T	3: 121,319,334 (GRCm39)	L136I	probably benign	Het
Tff3	A	G	17: 31,348,460 (GRCm39)		probably null	Het
Tpp2	T	A	1: 44,022,300 (GRCm39)	D899E	probably benign	Het
Tsbp1	G	T	17: 34,679,143 (GRCm39)	C302F	possibly damaging	Het
Tsen54	G	T	11: 115,711,386 (GRCm39)	D268Y	possibly damaging	Het
Ttbk2	A	C	2: 120,604,338 (GRCm39)	V220G	possibly damaging	Het
Uggt1	A	G	1: 36,223,513 (GRCm39)	V592A	possibly damaging	Het
Usp49	A	T	17: 47,983,037 (GRCm39)	Q14L	probably damaging	Het
Vldlr	T	A	19: 27,207,656 (GRCm39)	L48Q	probably benign	Het
Zbed6	T	C	1: 133,584,706 (GRCm39)	Y877C	probably benign	Het
Zp3	C	A	5: 136,016,119 (GRCm39)	T282N	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
R8276:Acbd5	UTSW	2	22,959,563 (GRCm39)	missense	probably benign	0.05
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'- AGGCTGGCTTCCTTCCTCA -3'
(R):5'- GTACAGAATTATTTCCCTGTACACTT -3'

Sequencing Primer
(F):5'- ACTGCCCTGTACCTGGGATC -3'
(R):5'- ACAGTTGTGAGGCACCATGTC -3'

Posted On

2021-01-18