Mutagenetix > Incidental Mutation

Incidental Mutation 'R9491:Acy1'

716937

Institutional Source

Beutler Lab

Gene Symbol

Acy1

Ensembl Gene

ENSMUSG00000023262

Gene Name

aminoacylase 1

Synonyms

Acy-1, 1110014J22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9491 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106310180-106315518 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106312994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 142 (T142I)

Ref Sequence

ENSEMBL: ENSMUSP00000024031 (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 damaging
Transcript: ENSMUST00000024031
AA Change: T142I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000024031
Gene: ENSMUSG00000023262
AA Change: T142I

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 damaging
Transcript: ENSMUST00000190972
AA Change: T142I

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

SMART Domains

Protein: ENSMUSP00000139953
Gene: ENSMUSG00000023262
AA Change: T142I

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

possibly damaging
Transcript: ENSMUST00000214275
AA Change: T107I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215395
AA Change: T142I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215506
AA Change: T142I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000216400

Predicted Effect

probably benign
Transcript: ENSMUST00000217081

Predicted Effect

probably benign
Transcript: ENSMUST00000217531

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	T	C	16: 4,236,052 (GRCm39)	E453G	probably damaging	Het
Ank3	A	C	10: 69,838,339 (GRCm39)		probably null	Het
Asmt	G	A	X: 169,108,405 (GRCm39)	G103D	possibly damaging	Het
Cap2	C	T	13: 46,791,366 (GRCm39)	P290S	possibly damaging	Het
Cfap43	A	T	19: 47,800,505 (GRCm39)		probably null	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Clstn1	T	C	4: 149,731,929 (GRCm39)	S950P	probably damaging	Het
Cluap1	G	A	16: 3,758,732 (GRCm39)	R398Q	probably benign	Het
Cmbl	G	T	15: 31,582,119 (GRCm39)	V39L	probably benign	Het
Dapk1	A	G	13: 60,877,369 (GRCm39)	D536G	probably benign	Het
Ddx3y	T	A	Y: 1,279,465 (GRCm39)	D133V	probably benign	Het
Duox1	T	A	2: 122,156,907 (GRCm39)	S525T	probably benign	Het
Eif2s2	T	C	2: 154,734,630 (GRCm39)		probably benign	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Gadd45a	A	T	6: 67,012,730 (GRCm39)	D137E	probably benign	Het
Gmppa	A	G	1: 75,415,602 (GRCm39)	D120G	probably damaging	Het
Gpr156	A	T	16: 37,825,704 (GRCm39)	R640S	probably benign	Het
Grik1	A	T	16: 87,746,995 (GRCm39)	M414K		Het
Gtse1	C	T	15: 85,755,734 (GRCm39)	P466L	probably damaging	Het
H6pd	T	A	4: 150,080,366 (GRCm39)	N160Y	probably benign	Het
Hectd4	T	G	5: 121,452,981 (GRCm39)	L496R	probably damaging	Het
Hnrnpk	G	T	13: 58,541,050 (GRCm39)	Q441K	probably benign	Het
Incenp	T	C	19: 9,854,141 (GRCm39)	K637E	unknown	Het
Irgc	C	T	7: 24,132,349 (GRCm39)	R156H	probably benign	Het
Kazn	C	T	4: 141,845,436 (GRCm39)	A383T		Het
Lmln	A	G	16: 32,890,358 (GRCm39)	E169G	possibly damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mdfic	T	A	6: 15,799,852 (GRCm39)	C326*	probably null	Het
Ncoa1	T	A	12: 4,340,912 (GRCm39)	D840V	probably benign	Het
Nkd1	A	G	8: 89,300,875 (GRCm39)	D81G	probably benign	Het
Or5an1c	T	C	19: 12,218,606 (GRCm39)	T140A	probably benign	Het
Or8c10	T	C	9: 38,278,971 (GRCm39)	V33A	possibly damaging	Het
Parp4	G	A	14: 56,832,828 (GRCm39)	E384K	probably damaging	Het
Pcdhgb4	T	A	18: 37,854,895 (GRCm39)	L430H	probably damaging	Het
Pdgfrb	A	G	18: 61,212,056 (GRCm39)	Y861C	probably damaging	Het
Pheta1	G	A	5: 121,991,051 (GRCm39)	A138T	probably benign	Het
Pipox	T	A	11: 77,772,359 (GRCm39)	Y337F	probably benign	Het
Prcc	A	G	3: 87,774,671 (GRCm39)	V377A	probably benign	Het
Prrg2	T	A	7: 44,706,218 (GRCm39)	Y133F	probably damaging	Het
Ptchd3	T	C	11: 121,733,813 (GRCm39)	V901A	probably damaging	Het
Rgl1	A	G	1: 152,424,869 (GRCm39)	L335P	probably damaging	Het
Setx	T	A	2: 29,037,835 (GRCm39)	M1440K	probably benign	Het
Smchd1	A	G	17: 71,667,020 (GRCm39)		probably null	Het
Tbpl2	T	C	2: 23,986,532 (GRCm39)	I6V	probably benign	Het
Tdrd12	T	A	7: 35,188,689 (GRCm39)	H516L		Het
Tmem8b	C	T	4: 43,673,938 (GRCm39)	R190C	probably damaging	Het
Tpmt	A	T	13: 47,180,752 (GRCm39)	S196T	probably benign	Het
Trp63	A	G	16: 25,695,472 (GRCm39)	N478S	unknown	Het
Vstm5	T	G	9: 15,168,586 (GRCm39)	I50S	probably damaging	Het
Wdhd1	A	T	14: 47,505,616 (GRCm39)	C285*	probably null	Het
Zdhhc23	A	C	16: 43,794,062 (GRCm39)	V204G	probably benign	Het
Zfp653	T	A	9: 21,969,622 (GRCm39)	K215*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- ATACAGGGTGGTGTGACTCC -3'
(R):5'- AAGGCGCAGGGAGTTTTCTG -3'

Sequencing Primer
(F):5'- CCTCCCTATGTCTGGCAGAG -3'
(R):5'- TTCTGGAGTCTGAAATACATGACAGG -3'

Posted On

2022-07-18