Mutagenetix > Incidental Mutation

Incidental Mutation 'R8144:Acy1'

643840

Institutional Source

Beutler Lab

Gene Symbol

Acy1

Ensembl Gene

ENSMUSG00000023262

Gene Name

aminoacylase 1

Synonyms

Acy-1, 1110014J22Rik

MMRRC Submission

067572-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8144 (G1)

Quality Score

115.008

Status

Validated

Chromosome

Chromosomal Location

106310180-106315518 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to T at 106313319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024031] [ENSMUST00000048685] [ENSMUST00000059802] [ENSMUST00000098994] [ENSMUST00000150576] [ENSMUST00000171678] [ENSMUST00000171925] [ENSMUST00000185334] [ENSMUST00000187001] [ENSMUST00000187983] [ENSMUST00000190798] [ENSMUST00000190803] [ENSMUST00000190900] [ENSMUST00000190972] [ENSMUST00000213448] [ENSMUST00000214067] [ENSMUST00000214275] [ENSMUST00000215395] [ENSMUST00000215506] [ENSMUST00000216400] [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 benign
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 benign
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 benign
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: 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 benign
Transcript: ENSMUST00000187001

SMART Domains

Protein: ENSMUSP00000140042
Gene: ENSMUSG00000042210

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
SCOP:d1imja_	51	110	1e-10	SMART
PDB:1IMJ\|A	58	110	6e-13	PDB

Predicted Effect

probably benign
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: ENSMUST00000190798

SMART Domains

Protein: ENSMUSP00000141096
Gene: ENSMUSG00000042210

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:Hydrolase_4	55	142	1.7e-8	PFAM
Pfam:Abhydrolase_5	73	157	1.2e-8	PFAM
Pfam:Abhydrolase_6	74	157	1.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190803

Predicted Effect

probably benign
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 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 benign
Transcript: ENSMUST00000213448

Predicted Effect

probably benign
Transcript: ENSMUST00000214067

Predicted Effect

probably null
Transcript: ENSMUST00000214275

Predicted Effect

probably null
Transcript: ENSMUST00000215395

Predicted Effect

probably benign
Transcript: ENSMUST00000215506

Predicted Effect

probably benign
Transcript: ENSMUST00000216400

Predicted Effect

probably benign
Transcript: ENSMUST00000217081

Predicted Effect

probably benign
Transcript: ENSMUST00000217531

Coding Region Coverage

1x: 99.7%
3x: 99.4%
10x: 98.0%
20x: 90.8%

Validation Efficiency

96% (50/52)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	C	9: 57,166,388 (GRCm39)		probably benign	Het
A2ml1	T	C	6: 128,546,962 (GRCm39)	D389G	possibly damaging	Het
Adcy2	G	A	13: 68,882,754 (GRCm39)	Q328*	probably null	Het
Arhgef40	T	A	14: 52,235,632 (GRCm39)	V1171E	probably damaging	Het
Arrb1	G	A	7: 99,247,659 (GRCm39)		probably null	Het
Atxn1l	G	A	8: 110,459,233 (GRCm39)	A343V	probably benign	Het
C3	A	T	17: 57,533,276 (GRCm39)	V109E	probably damaging	Het
Clptm1	A	T	7: 19,367,827 (GRCm39)	V595E	possibly damaging	Het
Cpne6	T	C	14: 55,750,066 (GRCm39)	C66R	possibly damaging	Het
Dhrs3	T	C	4: 144,646,474 (GRCm39)	S175P	probably damaging	Het
Eif2b1	A	T	5: 124,711,208 (GRCm39)	M187K	probably damaging	Het
Eln	CTCCAGCTCCGAT	C	5: 134,758,003 (GRCm39)		probably benign	Het
Evc2	T	C	5: 37,537,911 (GRCm39)	L533P	probably damaging	Het
Fam221b	T	G	4: 43,665,465 (GRCm39)	Q331P	probably damaging	Het
Fam221b	G	T	4: 43,665,466 (GRCm39)	Q331K	probably benign	Het
Golga3	T	C	5: 110,333,745 (GRCm39)	V127A	probably damaging	Het
Itsn1	C	T	16: 91,708,893 (GRCm39)	P1719L	unknown	Het
Lars1	T	G	18: 42,351,591 (GRCm39)	H871P	probably damaging	Het
Mamdc4	A	T	2: 25,457,019 (GRCm39)	V590E	probably damaging	Het
Mdga2	A	G	12: 66,702,037 (GRCm39)	I457T	probably damaging	Het
Morc2a	T	C	11: 3,634,039 (GRCm39)	V717A	probably benign	Het
Or1p1c	C	A	11: 74,160,384 (GRCm39)	H56Q	probably damaging	Het
Or8d2b	A	T	9: 38,788,662 (GRCm39)	L63F	probably damaging	Het
Pank4	A	T	4: 155,054,537 (GRCm39)	Q170L	probably benign	Het
Pde4dip	G	T	3: 97,622,742 (GRCm39)	A1489D	probably damaging	Het
Pde8b	A	T	13: 95,359,278 (GRCm39)	I15N	probably damaging	Het
Pex16	A	C	2: 92,205,985 (GRCm39)	E26A	probably damaging	Het
Poglut2	A	G	1: 44,149,966 (GRCm39)	Y408H	probably damaging	Het
Polq	C	T	16: 36,849,846 (GRCm39)	P367S	probably benign	Het
Polr1a	T	A	6: 71,927,600 (GRCm39)	V817E	probably benign	Het
Pthlh	T	C	6: 147,158,663 (GRCm39)	D99G	probably damaging	Het
Rasgrp4	A	T	7: 28,848,542 (GRCm39)	S556C	probably damaging	Het
Rhobtb1	G	T	10: 69,125,388 (GRCm39)	V653L	possibly damaging	Het
Rin2	G	A	2: 145,664,225 (GRCm39)	R33Q	probably benign	Het
Rmc1	A	T	18: 12,318,704 (GRCm39)		probably null	Het
Sh3rf2	C	T	18: 42,274,124 (GRCm39)	T430I	probably benign	Het
Slc14a2	A	G	18: 78,227,759 (GRCm39)		probably null	Het
Slc39a8	C	T	3: 135,590,404 (GRCm39)	Q366*	probably null	Het
Spata31h1	A	T	10: 82,130,433 (GRCm39)	L859*	probably null	Het
Tagln3	G	T	16: 45,544,554 (GRCm39)	A39D	probably benign	Het
Tfdp1	T	A	8: 13,423,015 (GRCm39)	C307S	probably benign	Het
Tlr11	T	C	14: 50,599,945 (GRCm39)	S644P	probably damaging	Het
Tnpo3	T	C	6: 29,558,761 (GRCm39)	D723G	probably benign	Het
Xpo5	A	G	17: 46,519,145 (GRCm39)	N195D	probably benign	Het
Zfp11	T	C	5: 129,733,694 (GRCm39)	Y589C	possibly damaging	Het
Zfp712	T	C	13: 67,189,172 (GRCm39)	T452A	probably benign	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
IGL03304:Acy1	APN	9	106,312,665 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TTTCAGACTCCAGAAAACTCCCTG -3'
(R):5'- GACAGCAGGAGCCAAATTGC -3'

Sequencing Primer
(F):5'- AGAAAACTCCCTGCGCCTTTTC -3'
(R):5'- CAGGTAGCTGGGGTTTCTAGCC -3'

Posted On

2020-08-28