Mutagenetix > Incidental Mutations

Incidental Mutation 'R5030:Acy1'

391635

Institutional Source

Beutler Lab

Gene Symbol

Acy1

Ensembl Gene

ENSMUSG00000023262

Gene Name

aminoacylase 1

Synonyms

1110014J22Rik, Acy-1

MMRRC Submission

042621-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5030 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106432981-106438319 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106433397 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 343 (F343L)

Ref Sequence

ENSEMBL: ENSMUSP00000024031 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000024031
AA Change: F343L

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000024031
Gene: ENSMUSG00000023262
AA Change: F343L

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: 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

noncoding transcript
Transcript: ENSMUST00000187324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189097

Predicted Effect

probably benign
Transcript: ENSMUST00000190803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190851

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: 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 benign
Transcript: ENSMUST00000214275
AA Change: F308L

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000215395
AA Change: F278L

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000215506

Predicted Effect

probably benign
Transcript: ENSMUST00000216400
AA Change: F271L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000217081

Predicted Effect

probably benign
Transcript: ENSMUST00000217531

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

98% (87/89)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	A	C	5: 26,479,785		noncoding transcript	Het
4932438A13Rik	A	G	3: 36,943,399		probably benign	Het
9330182L06Rik	T	A	5: 9,428,502	N455K	probably damaging	Het
Abca15	A	T	7: 120,340,001	E206V	probably damaging	Het
Adam22	T	C	5: 8,179,645		probably benign	Het
Adgrv1	A	T	13: 81,459,829	D4041E	probably benign	Het
Akr1c14	T	C	13: 4,079,102	S166P	probably damaging	Het
Alms1	T	A	6: 85,627,964	C2199S	probably damaging	Het
Atm	A	T	9: 53,520,109	Y316*	probably null	Het
Atp1a1	T	C	3: 101,579,817	D892G	probably benign	Het
Auts2	A	G	5: 131,443,498	V581A	probably benign	Het
Boll	T	A	1: 55,355,735	N57I	probably damaging	Het
C1s2	A	C	6: 124,635,588	V36G	possibly damaging	Het
Capza1	T	C	3: 104,840,838	Y70C	probably damaging	Het
Carnmt1	T	C	19: 18,691,586	S292P	possibly damaging	Het
Cyp2g1	T	G	7: 26,820,801	V486G	probably benign	Het
Dennd6b	T	A	15: 89,196,251	T49S	possibly damaging	Het
Dhx58	A	T	11: 100,696,137	I610N	probably damaging	Het
Fam170a	T	A	18: 50,281,954	N222K	probably benign	Het
Fbn1	A	G	2: 125,412,704	V213A	possibly damaging	Het
Frem3	A	C	8: 80,613,247	D723A	possibly damaging	Het
Fsip2	A	T	2: 82,988,492	K4856N	possibly damaging	Het
Galnt17	A	G	5: 130,876,513	V571A	probably damaging	Het
Gm6124	A	G	7: 39,223,030		noncoding transcript	Het
Gm884	G	A	11: 103,534,849	P1419S	unknown	Het
Gm8973	A	G	15: 99,006,255		noncoding transcript	Het
Gpd2	A	G	2: 57,304,405	T107A	probably damaging	Het
Hsd17b11	G	A	5: 104,003,292	A192V	probably damaging	Het
Igkv6-25	C	T	6: 70,215,442	Q4*	probably null	Het
Kalrn	A	G	16: 33,975,742	I1221T	probably benign	Het
Klhl9	G	T	4: 88,720,534	T490K	possibly damaging	Het
Lnpep	A	G	17: 17,579,309	V28A	probably damaging	Het
Man2c1	A	G	9: 57,140,639	H843R	probably benign	Het
Map1b	T	C	13: 99,434,174	K680E	unknown	Het
Metap2	A	T	10: 93,879,677		probably null	Het
Mfsd2a	A	T	4: 122,950,156	I340N	possibly damaging	Het
Mgll	T	C	6: 88,818,665		probably null	Het
Mum1	T	C	10: 80,240,375		probably benign	Het
Myh9	A	G	15: 77,807,798		probably benign	Het
Ncapd3	A	T	9: 27,071,766	I937F	probably damaging	Het
Neb	T	C	2: 52,334,492		probably benign	Het
Nova1	A	G	12: 46,700,247	S416P	probably damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1395	A	T	11: 49,148,361	M35L	probably benign	Het
Olfr502	T	A	7: 108,523,177	I258F	possibly damaging	Het
Olfr869	A	T	9: 20,138,067	K317M	probably benign	Het
Oosp3	T	C	19: 11,700,944	W95R	probably benign	Het
Pcdha7	T	A	18: 36,975,448	S509T	probably damaging	Het
Pdgfrb	T	C	18: 61,065,135	V296A	probably benign	Het
Pdzd2	A	T	15: 12,592,408	L50*	probably null	Het
Plcl2	G	T	17: 50,607,319	R452L	possibly damaging	Het
Poldip3	A	T	15: 83,138,191	F131I	possibly damaging	Het
Rffl	G	A	11: 82,812,717	R127*	probably null	Het
Sec24d	T	A	3: 123,358,901	V854E	probably damaging	Het
Sgo2a	T	A	1: 58,017,759	L1034*	probably null	Het
Slc39a4	C	T	15: 76,614,083	D385N	probably damaging	Het
Spaca1	A	T	4: 34,039,247	N95K	possibly damaging	Het
Spag17	C	T	3: 100,085,341	Q1718*	probably null	Het
Spdl1	C	T	11: 34,823,440	A141T	probably benign	Het
Stxbp3-ps	A	T	19: 9,558,350		noncoding transcript	Het
Supv3l1	G	T	10: 62,430,615	A594D	probably damaging	Het
Tcaf3	A	G	6: 42,596,933	V115A	probably benign	Het
Tcrg-V7	G	T	13: 19,178,388	L82F	probably damaging	Het
Tmem131	T	C	1: 36,827,174	N483S	possibly damaging	Het
Tmem2	T	G	19: 21,842,105	F1087V	probably benign	Het
Tonsl	A	T	15: 76,638,101	C231S	probably damaging	Het
Trav9n-4	T	C	14: 53,294,848	F53S	possibly damaging	Het
Trim45	T	G	3: 100,928,072	V457G	probably damaging	Het
Trpm1	T	A	7: 64,235,831	I865N	probably damaging	Het
Trpm3	C	A	19: 22,698,766	L99I	probably benign	Het
Twist1	T	A	12: 33,958,441	L155Q	probably damaging	Het
Vac14	A	G	8: 110,710,386	E577G	possibly damaging	Het
Vmn1r184	T	C	7: 26,267,456	V209A	probably benign	Het
Xdh	C	T	17: 73,891,293	G1200R	probably damaging	Het
Zbbx	C	T	3: 75,083,683	D290N	possibly damaging	Het
Zbtb40	T	C	4: 136,997,952	T585A	probably benign	Het
Zc3h4	T	A	7: 16,422,230	D262E	unknown	Het
Zfp777	G	T	6: 48,037,667	D368E	probably damaging	Het

Other mutations in Acy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01670:Acy1	APN	9	106436807	unclassified	probably benign
IGL03029:Acy1	APN	9	106435115	missense	probably damaging	0.98
IGL03304:Acy1	APN	9	106435466	critical splice donor site	probably null
R0691:Acy1	UTSW	9	106435871	splice site	probably null
R2152:Acy1	UTSW	9	106435617	missense	probably damaging	1.00
R3882:Acy1	UTSW	9	106435509	missense	possibly damaging	0.75
R4019:Acy1	UTSW	9	106436779	missense	possibly damaging	0.94
R4421:Acy1	UTSW	9	106435713	unclassified	probably null
R4700:Acy1	UTSW	9	106433583	missense	probably benign	0.00
R4931:Acy1	UTSW	9	106433191	missense	probably damaging	1.00
R4934:Acy1	UTSW	9	106435122	missense	probably null	1.00
R5482:Acy1	UTSW	9	106434639	intron	probably benign
R5748:Acy1	UTSW	9	106436727	missense	probably damaging	1.00
R6932:Acy1	UTSW	9	106437627	critical splice donor site	probably null
R7468:Acy1	UTSW	9	106437722	start codon destroyed	probably null	0.64
R7768:Acy1	UTSW	9	106433618	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- CATTATGGTCATGTAGCAGGACAG -3'
(R):5'- CTGCAAGGCAATGTGAGCAC -3'

Sequencing Primer
(F):5'- TCATGTAGCAGGACAGGTGTGC -3'
(R):5'- ATGTGAGCACTGACCAGC -3'

Posted On

2016-06-06