Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03304:Acy1'

416358

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acy1

Ensembl Gene

ENSMUSG00000023262

Gene Name

aminoacylase 1

Synonyms

Acy-1, 1110014J22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03304

Quality Score

Status

Chromosome

Chromosomal Location

106310180-106315518 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 106312665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024031] [ENSMUST00000024031] [ENSMUST00000048685] [ENSMUST00000059802] [ENSMUST00000098994] [ENSMUST00000150576] [ENSMUST00000171678] [ENSMUST00000171925] [ENSMUST00000190803] [ENSMUST00000190972] [ENSMUST00000190972] [ENSMUST00000215506] [ENSMUST00000216400] [ENSMUST00000216400] [ENSMUST00000214275] [ENSMUST00000214275] [ENSMUST00000215395] [ENSMUST00000215395] [ENSMUST00000190900] [ENSMUST00000214067] [ENSMUST00000213448] [ENSMUST00000185334] [ENSMUST00000187983] [ENSMUST00000217081]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000024031

SMART Domains

Protein: ENSMUSP00000024031
Gene: ENSMUSG00000023262

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M28	61	239	8.6e-8	PFAM
Pfam:Peptidase_M20	76	397	1.8e-38	PFAM
Pfam:M20_dimer	188	302	1.4e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000024031

SMART Domains

Protein: ENSMUSP00000024031
Gene: ENSMUSG00000023262

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M28	61	239	8.6e-8	PFAM
Pfam:Peptidase_M20	76	397	1.8e-38	PFAM
Pfam:M20_dimer	188	302	1.4e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000048685

SMART Domains

Protein: ENSMUSP00000047322
Gene: ENSMUSG00000042210

Domain	Start	End	E-Value	Type
transmembrane domain	12	29	N/A	INTRINSIC
Pfam:Hydrolase_4	55	142	3.3e-10	PFAM
Pfam:Abhydrolase_5	73	227	8.1e-21	PFAM
Pfam:Abhydrolase_6	74	181	1e-14	PFAM
Pfam:Abhydrolase_6	176	238	1.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000059802

SMART Domains

Protein: ENSMUSP00000080203
Gene: ENSMUSG00000048758

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L29e	3	42	1.4e-30	PFAM
low complexity region	126	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098994

SMART Domains

Protein: ENSMUSP00000096592
Gene: ENSMUSG00000048758

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L29e	3	42	2.6e-27	PFAM
low complexity region	126	152	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150576

SMART Domains

Protein: ENSMUSP00000117834
Gene: ENSMUSG00000048758

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L29e	3	42	9.8e-28	PFAM
low complexity region	126	160	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000171678

SMART Domains

Protein: ENSMUSP00000126101
Gene: ENSMUSG00000042210

Domain	Start	End	E-Value	Type
transmembrane domain	12	29	N/A	INTRINSIC
Pfam:Hydrolase_4	55	142	3.3e-10	PFAM
Pfam:Abhydrolase_5	73	227	8.1e-21	PFAM
Pfam:Abhydrolase_6	74	181	1e-14	PFAM
Pfam:Abhydrolase_6	176	238	1.4e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000171925

SMART Domains

Protein: ENSMUSP00000126916
Gene: ENSMUSG00000042210

Domain	Start	End	E-Value	Type
transmembrane domain	12	29	N/A	INTRINSIC
Pfam:Abhydrolase_5	73	245	7.9e-17	PFAM
low complexity region	253	265	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189097

Predicted Effect

probably null
Transcript: ENSMUST00000190972

SMART Domains

Protein: ENSMUSP00000139953
Gene: ENSMUSG00000023262

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M20	76	216	2.9e-24	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000190972

SMART Domains

Protein: ENSMUSP00000139953
Gene: ENSMUSG00000023262

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M20	76	216	2.9e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190851

Predicted Effect

probably benign
Transcript: ENSMUST00000215506

Predicted Effect

probably null
Transcript: ENSMUST00000216400

Predicted Effect

probably null
Transcript: ENSMUST00000216400

Predicted Effect

probably null
Transcript: ENSMUST00000214275

Predicted Effect

probably null
Transcript: ENSMUST00000214275

Predicted Effect

probably null
Transcript: ENSMUST00000215395

Predicted Effect

probably null
Transcript: ENSMUST00000215395

Predicted Effect

probably null
Transcript: ENSMUST00000190900

SMART Domains

Protein: ENSMUSP00000140582
Gene: ENSMUSG00000023262

Domain	Start	End	E-Value	Type
PDB:1Q7L\|C	1	50	9e-23	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000214067

Predicted Effect

probably benign
Transcript: ENSMUST00000213448

Predicted Effect

probably null
Transcript: ENSMUST00000185334

SMART Domains

Protein: ENSMUSP00000140345
Gene: ENSMUSG00000042210

Domain	Start	End	E-Value	Type
transmembrane domain	12	29	N/A	INTRINSIC
Pfam:Hydrolase_4	55	142	3.3e-10	PFAM
Pfam:Abhydrolase_5	73	227	8.1e-21	PFAM
Pfam:Abhydrolase_6	74	181	1e-14	PFAM
Pfam:Abhydrolase_6	176	238	1.4e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000187983

SMART Domains

Protein: ENSMUSP00000140901
Gene: ENSMUSG00000042210

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:Abhydrolase_5	73	203	5.4e-12	PFAM
Pfam:Abhydrolase_6	74	197	1.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217081

Predicted Effect

probably benign
Transcript: ENSMUST00000217531

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 cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. This gene is located on chromosome 3p21.1, a region reduced to homozygosity in small-cell lung cancer (SCLC), and its expression has been reported to be reduced or undetectable in SCLC cell lines and tumors. The amino acid sequence of human aminoacylase-1 is highly homologous to the porcine counterpart, and this enzyme is the first member of a new family of zinc-binding enzymes. Mutations in this gene cause aminoacylase-1 deficiency, a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ABHD14A (abhydrolase domain containing 14A) gene, as represented in GeneID:100526760. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	T	C	1: 171,080,438 (GRCm39)		probably benign	Het
Anapc1	A	T	2: 128,469,033 (GRCm39)		probably benign	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Aoah	A	G	13: 21,099,180 (GRCm39)		probably benign	Het
Atp9b	A	T	18: 80,961,092 (GRCm39)	Y40N	probably damaging	Het
Brd8	A	G	18: 34,747,633 (GRCm39)		probably benign	Het
Cd274	A	C	19: 29,361,502 (GRCm39)	E270A	probably damaging	Het
Cic	T	A	7: 24,984,274 (GRCm39)	V23E	probably damaging	Het
Cpeb4	T	C	11: 31,822,739 (GRCm39)	L151P	probably damaging	Het
D3Ertd751e	G	A	3: 41,701,164 (GRCm39)		probably null	Het
Diaph1	A	T	18: 37,987,626 (GRCm39)	D1043E	possibly damaging	Het
Fcgbpl1	A	G	7: 27,841,667 (GRCm39)	Y534C	probably damaging	Het
Hmcn1	T	A	1: 150,505,982 (GRCm39)	N3848I	probably damaging	Het
Ifi211	A	T	1: 173,735,273 (GRCm39)	M52K	probably damaging	Het
Itih4	T	C	14: 30,620,006 (GRCm39)	I747T	probably damaging	Het
Kifbp	A	C	10: 62,395,082 (GRCm39)	L520R	probably damaging	Het
Lcat	T	C	8: 106,666,695 (GRCm39)	M276V	possibly damaging	Het
Mmp1b	A	T	9: 7,384,701 (GRCm39)	D282E	probably damaging	Het
Mst1r	T	A	9: 107,785,137 (GRCm39)	V265D	probably damaging	Het
Muc4	T	A	16: 32,570,257 (GRCm39)	L439*	probably null	Het
Nlrp4e	T	A	7: 23,052,768 (GRCm39)		probably null	Het
Ogfod2	A	T	5: 124,250,886 (GRCm39)	D24V	probably damaging	Het
Or1ak2	T	C	2: 36,827,560 (GRCm39)	L143P	probably damaging	Het
Or5b105	A	G	19: 13,080,105 (GRCm39)	S182P	probably damaging	Het
Or9s23	T	C	1: 92,501,025 (GRCm39)	V44A	probably benign	Het
Pcnx1	T	A	12: 82,028,803 (GRCm39)	W1661R	probably damaging	Het
Pdzph1	G	A	17: 59,187,641 (GRCm39)	T1193I	probably damaging	Het
Pias3	A	G	3: 96,607,347 (GRCm39)	T152A	possibly damaging	Het
Pla2g5	A	T	4: 138,531,880 (GRCm39)	Y41*	probably null	Het
Plxna4	A	G	6: 32,141,986 (GRCm39)		probably benign	Het
Ppp2r2a	A	C	14: 67,253,977 (GRCm39)	V397G	probably benign	Het
Ripor3	A	G	2: 167,822,848 (GRCm39)		probably benign	Het
Slc35a3	A	G	3: 116,480,960 (GRCm39)	L101P	probably damaging	Het
Sptan1	G	A	2: 29,876,505 (GRCm39)	R295Q	probably damaging	Het
Syce1	A	T	7: 140,357,623 (GRCm39)	V314D	possibly damaging	Het
Tex52	T	C	6: 128,356,495 (GRCm39)	Y63H	possibly damaging	Het
Tmem63a	T	A	1: 180,796,418 (GRCm39)	Y580*	probably null	Het
Ube2m	T	A	7: 12,769,685 (GRCm39)		probably benign	Het
Vmn1r50	G	T	6: 90,084,625 (GRCm39)	K123N	probably damaging	Het

Other mutations in Acy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01670:Acy1	APN	9	106,314,006 (GRCm39)	unclassified	probably benign
IGL03029:Acy1	APN	9	106,312,314 (GRCm39)	missense	probably damaging	0.98
R0691:Acy1	UTSW	9	106,313,070 (GRCm39)	splice site	probably null
R2152:Acy1	UTSW	9	106,312,816 (GRCm39)	missense	probably damaging	1.00
R3882:Acy1	UTSW	9	106,312,708 (GRCm39)	missense	possibly damaging	0.75
R4019:Acy1	UTSW	9	106,313,978 (GRCm39)	missense	possibly damaging	0.94
R4421:Acy1	UTSW	9	106,312,912 (GRCm39)	splice site	probably null
R4700:Acy1	UTSW	9	106,310,782 (GRCm39)	missense	probably benign	0.00
R4931:Acy1	UTSW	9	106,310,390 (GRCm39)	missense	probably damaging	1.00
R4934:Acy1	UTSW	9	106,312,321 (GRCm39)	missense	probably null	1.00
R5030:Acy1	UTSW	9	106,310,596 (GRCm39)	missense	probably benign	0.31
R5482:Acy1	UTSW	9	106,311,838 (GRCm39)	intron	probably benign
R5748:Acy1	UTSW	9	106,313,926 (GRCm39)	missense	probably damaging	1.00
R6932:Acy1	UTSW	9	106,314,826 (GRCm39)	critical splice donor site	probably null
R7468:Acy1	UTSW	9	106,314,921 (GRCm39)	start codon destroyed	probably null	0.64
R7768:Acy1	UTSW	9	106,310,817 (GRCm39)	missense	possibly damaging	0.90
R8144:Acy1	UTSW	9	106,313,319 (GRCm39)	splice site	probably null
R8226:Acy1	UTSW	9	106,314,857 (GRCm39)	missense	probably damaging	0.98
R8692:Acy1	UTSW	9	106,310,377 (GRCm39)	missense	probably damaging	1.00
R8774:Acy1	UTSW	9	106,313,913 (GRCm39)	missense	probably damaging	1.00
R8774-TAIL:Acy1	UTSW	9	106,313,913 (GRCm39)	missense	probably damaging	1.00
R9112:Acy1	UTSW	9	106,311,952 (GRCm39)	missense	probably benign	0.01
R9491:Acy1	UTSW	9	106,312,994 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02