Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03029:Acy1'

408315

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 #

IGL03029

Quality Score

Status

Chromosome

Chromosomal Location

106310180-106315518 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106312314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 213 (D213V)

Ref Sequence

ENSEMBL: ENSMUSP00000024031 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000024031
AA Change: D213V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024031
Gene: ENSMUSG00000023262
AA Change: D213V

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

possibly damaging
Transcript: ENSMUST00000190972
AA Change: D213V

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139953
Gene: ENSMUSG00000023262
AA Change: D213V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189097

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187324

Predicted Effect

probably benign
Transcript: ENSMUST00000190803

Predicted Effect

probably damaging
Transcript: ENSMUST00000214275
AA Change: D178V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215395
AA Change: D213V

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000215506

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216400
AA Change: D141V

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000214067

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 benign
Transcript: ENSMUST00000213448

Predicted Effect

probably benign
Transcript: ENSMUST00000217081

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

unknown
Transcript: ENSMUST00000217531
AA Change: D16V

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	C	12: 52,933,195 (GRCm39)	L229P	probably damaging	Het
Ankrd10	A	T	8: 11,669,304 (GRCm39)		probably null	Het
Arfgap3	C	T	15: 83,206,851 (GRCm39)	E246K	probably damaging	Het
Cadps	G	T	14: 12,376,675 (GRCm38)	T1274K	probably damaging	Het
Cd46	T	C	1: 194,768,451 (GRCm39)	T89A	probably benign	Het
Cylc1	A	C	X: 110,156,944 (GRCm39)		probably benign	Het
Dach2	T	A	X: 112,724,833 (GRCm39)	L492*	probably null	Het
Dlc1	T	C	8: 37,038,416 (GRCm39)		probably null	Het
Fanci	T	C	7: 79,093,747 (GRCm39)	V1033A	probably benign	Het
Fat4	T	C	3: 39,036,740 (GRCm39)	I3464T	possibly damaging	Het
Fus	A	G	7: 127,584,712 (GRCm39)		probably benign	Het
Garin5b	G	T	7: 4,760,839 (GRCm39)	N624K	possibly damaging	Het
Hectd3	G	T	4: 116,854,162 (GRCm39)	E271*	probably null	Het
Herc2	T	C	7: 55,818,715 (GRCm39)	L2802P	probably damaging	Het
Hk2	G	A	6: 82,715,314 (GRCm39)	R407C	probably damaging	Het
Josd2	T	C	7: 44,120,601 (GRCm39)	S71P	probably damaging	Het
Kif20b	A	G	19: 34,928,313 (GRCm39)	T1152A	probably benign	Het
Myo15b	G	A	11: 115,762,469 (GRCm39)	V1229I	probably benign	Het
Nup188	T	C	2: 30,212,592 (GRCm39)		probably benign	Het
Or1i2	T	A	10: 78,447,792 (GRCm39)	I228F	probably benign	Het
Pank1	T	A	19: 34,798,535 (GRCm39)	I476F	probably damaging	Het
Pdcd6	A	G	13: 74,457,899 (GRCm39)	Y91H	probably damaging	Het
Pik3r3	T	G	4: 116,156,998 (GRCm39)	V393G	probably damaging	Het
Poglut3	T	C	9: 53,295,588 (GRCm39)		probably null	Het
Prx	C	T	7: 27,207,486 (GRCm39)	R48*	probably null	Het
Rbm5	A	G	9: 107,631,652 (GRCm39)	S222P	possibly damaging	Het
Rev3l	T	A	10: 39,704,482 (GRCm39)	I302N	probably benign	Het
Rnf139	T	C	15: 58,770,967 (GRCm39)	F331L	probably damaging	Het
Shisa4	G	T	1: 135,300,914 (GRCm39)	Q119K	probably damaging	Het
Shisa6	T	A	11: 66,108,839 (GRCm39)	E346V	probably damaging	Het
Slc6a3	A	T	13: 73,686,816 (GRCm39)	E61V	probably damaging	Het
Slc9a7	T	A	X: 20,157,608 (GRCm39)	M106L	probably benign	Het
Srek1	A	G	13: 103,900,468 (GRCm39)		probably benign	Het
Strc	G	A	2: 121,194,525 (GRCm39)	L1788F	possibly damaging	Het
Styk1	T	C	6: 131,277,523 (GRCm39)	S284G	probably benign	Het
Top2a	T	A	11: 98,909,625 (GRCm39)	T158S	probably benign	Het
Vangl1	C	T	3: 102,091,400 (GRCm39)	V229M	probably damaging	Het
Vsig1	A	G	X: 139,827,261 (GRCm39)	T137A	possibly 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
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
R9491:Acy1	UTSW	9	106,312,994 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02