Mutagenetix > Incidental Mutation

Incidental Mutation 'R7468:Acy1'

578962

Institutional Source

Beutler Lab

Gene Symbol

Acy1

Ensembl Gene

ENSMUSG00000023262

Gene Name

aminoacylase 1

Synonyms

Acy-1, 1110014J22Rik

MMRRC Submission

045542-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7468 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106310180-106315518 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 106314921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000024031 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024031] [ENSMUST00000048685] [ENSMUST00000171678] [ENSMUST00000171925] [ENSMUST00000185334] [ENSMUST00000187001] [ENSMUST00000187983] [ENSMUST00000190798] [ENSMUST00000190803] [ENSMUST00000190900] [ENSMUST00000190972] [ENSMUST00000214275] [ENSMUST00000215395] [ENSMUST00000215506] [ENSMUST00000216400]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000024031
AA Change: M1V

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000024031
Gene: ENSMUSG00000023262
AA Change: M1V

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: 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 null
Transcript: ENSMUST00000190803
AA Change: M1V

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably null
Transcript: ENSMUST00000190900
AA Change: M1V

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140582
Gene: ENSMUSG00000023262
AA Change: M1V

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

Predicted Effect

probably null
Transcript: ENSMUST00000190972
AA Change: M1V

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000139953
Gene: ENSMUSG00000023262
AA Change: M1V

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

Predicted Effect

probably null
Transcript: ENSMUST00000214275
AA Change: M1V

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably null
Transcript: ENSMUST00000215395
AA Change: M1V

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably null
Transcript: ENSMUST00000215506
AA Change: M1V

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably null
Transcript: ENSMUST00000216400
AA Change: M1V

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000217531

Meta Mutation Damage Score

0.9157

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (86/88)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	G	1: 156,450,104 (GRCm39)	N90K	possibly damaging	Het
Acox1	T	C	11: 116,069,001 (GRCm39)	T415A	possibly damaging	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Alpk3	C	A	7: 80,750,746 (GRCm39)	Y1505*	probably null	Het
Ankrd17	T	C	5: 90,390,902 (GRCm39)	N2256S	probably benign	Het
Ankrd22	C	A	19: 34,126,692 (GRCm39)	C46F	possibly damaging	Het
Arhgef5	A	T	6: 43,257,605 (GRCm39)	K1291*	probably null	Het
Arl9	T	A	5: 77,158,276 (GRCm39)	Y119*	probably null	Het
Asb14	T	C	14: 26,622,805 (GRCm39)	V89A	probably benign	Het
Banp	T	G	8: 122,676,588 (GRCm39)		probably null	Het
Btn2a2	T	C	13: 23,666,933 (GRCm39)	N224S	probably benign	Het
C1ra	C	T	6: 124,499,403 (GRCm39)	Q530*	probably null	Het
C2cd6	A	C	1: 59,107,844 (GRCm39)	S273A	probably benign	Het
Cd1d2	A	T	3: 86,895,583 (GRCm39)		probably null	Het
Cdc42bpb	T	C	12: 111,306,307 (GRCm39)	D132G	probably damaging	Het
Cfap45	C	A	1: 172,362,877 (GRCm39)	Y289*	probably null	Het
Chrdl2	T	C	7: 99,659,332 (GRCm39)		probably null	Het
Cilk1	A	G	9: 78,065,221 (GRCm39)	K377R	probably benign	Het
Cst5	C	T	2: 149,247,496 (GRCm39)	L71F	probably benign	Het
Dcaf11	T	C	14: 55,802,966 (GRCm39)	F292L	possibly damaging	Het
Dgcr8	A	G	16: 18,077,487 (GRCm39)	F641S	probably damaging	Het
Dnm3	G	A	1: 162,149,198 (GRCm39)		probably null	Het
Efcab3	G	T	11: 104,640,526 (GRCm39)	S1088I	probably benign	Het
Eral1	T	C	11: 77,966,219 (GRCm39)	K320E	probably damaging	Het
Eva1a	A	G	6: 82,069,002 (GRCm39)	T110A	possibly damaging	Het
Fbxo42	A	G	4: 140,926,917 (GRCm39)	D399G	possibly damaging	Het
Frs2	T	C	10: 116,910,007 (GRCm39)	T452A	possibly damaging	Het
Git2	T	A	5: 114,871,958 (GRCm39)	D542V	probably damaging	Het
Grk2	T	A	19: 4,356,063 (GRCm39)		probably benign	Het
Gsg1l2	A	G	11: 67,676,110 (GRCm39)	N158S	possibly damaging	Het
Hc	T	C	2: 34,918,063 (GRCm39)	N740S	probably benign	Het
Hectd1	T	C	12: 51,791,588 (GRCm39)		probably null	Het
Hemk1	A	G	9: 107,208,288 (GRCm39)		probably null	Het
Hormad2	G	T	11: 4,362,245 (GRCm39)	Y126*	probably null	Het
Hr	A	G	14: 70,795,652 (GRCm39)	E399G	possibly damaging	Het
Ilf3	C	A	9: 21,314,707 (GRCm39)	H780N	unknown	Het
Inpp5e	A	T	2: 26,298,161 (GRCm39)	S147T	probably benign	Het
Irag2	C	A	6: 145,119,427 (GRCm39)		probably null	Het
Jmjd6	T	C	11: 116,733,275 (GRCm39)	D134G	probably damaging	Het
Kif23	G	T	9: 61,844,457 (GRCm39)	Y120*	probably null	Het
Klk12	T	A	7: 43,422,780 (GRCm39)	Y236N	probably damaging	Het
Kmt5b	C	A	19: 3,852,799 (GRCm39)	Y186*	probably null	Het
Krtap9-5	A	G	11: 99,840,132 (GRCm39)	T278A	unknown	Het
Lca5	T	A	9: 83,305,509 (GRCm39)	D99V	probably damaging	Het
Leng9	A	G	7: 4,151,800 (GRCm39)	V292A	probably benign	Het
Lime1	A	G	2: 181,025,135 (GRCm39)	R231G	probably benign	Het
Mctp2	T	A	7: 71,861,438 (GRCm39)	E402D	probably damaging	Het
Mrpl28	T	A	17: 26,343,589 (GRCm39)	S116R	probably damaging	Het
Muc15	A	T	2: 110,561,862 (GRCm39)	R99S	probably benign	Het
Myh2	G	A	11: 67,083,368 (GRCm39)	A1444T	probably benign	Het
Mynn	T	A	3: 30,657,825 (GRCm39)	Y48N	probably damaging	Het
Myo1b	A	T	1: 51,836,639 (GRCm39)	V274E	possibly damaging	Het
Nemp1	T	A	10: 127,528,923 (GRCm39)	M209K	possibly damaging	Het
Nlrc4	G	T	17: 74,752,507 (GRCm39)	D625E	probably benign	Het
Or10al6	C	T	17: 38,082,910 (GRCm39)	A122V	probably damaging	Het
Or11a4	T	C	17: 37,536,276 (GRCm39)	F87L	probably benign	Het
Or4p4	T	C	2: 88,482,622 (GRCm39)	L42P	probably damaging	Het
Otog	T	C	7: 45,913,543 (GRCm39)	V792A	probably benign	Het
Paqr8	T	C	1: 21,005,442 (GRCm39)	Y199H	probably damaging	Het
Popdc3	A	G	10: 45,191,117 (GRCm39)	D76G	probably damaging	Het
Ppme1	T	C	7: 99,991,069 (GRCm39)	N210D	probably benign	Het
Prdm15	A	C	16: 97,636,842 (GRCm39)	Y158*	probably null	Het
Prrg2	A	T	7: 44,709,687 (GRCm39)	L70Q	probably benign	Het
Psmg4	C	T	13: 34,361,966 (GRCm39)	R85W	probably damaging	Het
Rab11fip4	A	T	11: 79,580,478 (GRCm39)	T437S	probably benign	Het
Rap2a	T	A	14: 120,716,338 (GRCm39)	M67K	probably damaging	Het
Rnf123	A	T	9: 107,946,208 (GRCm39)	H322Q	probably benign	Het
Rxfp2	A	T	5: 149,990,801 (GRCm39)	T521S	possibly damaging	Het
Scrn2	T	G	11: 96,923,992 (GRCm39)	V292G	possibly damaging	Het
Serpina3n	C	A	12: 104,377,656 (GRCm39)	P303H	probably benign	Het
Spop	C	T	11: 95,376,727 (GRCm39)	T260M	probably damaging	Het
Surf2	G	A	2: 26,809,354 (GRCm39)	G224D	probably benign	Het
Synm	T	G	7: 67,382,971 (GRCm39)	N669T	unknown	Het
Tmprss13	T	C	9: 45,239,721 (GRCm39)	S10P	unknown	Het
Trav9d-1	T	A	14: 53,029,970 (GRCm39)	S25T	probably benign	Het
Trpc3	A	T	3: 36,678,565 (GRCm39)	I840K	probably damaging	Het
Tsbp1	T	A	17: 34,636,539 (GRCm39)		probably null	Het
Tssc4	C	A	7: 142,622,999 (GRCm39)		probably benign	Het
Ttc39d	G	T	17: 80,523,579 (GRCm39)	R79S	possibly damaging	Het
Txlnb	T	A	10: 17,675,082 (GRCm39)	S78R	probably damaging	Het
Vmn1r142	T	A	7: 21,862,784 (GRCm39)	Q226L	possibly damaging	Het
Vmn1r230	T	C	17: 21,067,146 (GRCm39)	S112P	probably damaging	Het
Wrnip1	T	C	13: 33,000,360 (GRCm39)	F456L	possibly damaging	Het
Zc3h8	G	T	2: 128,775,215 (GRCm39)	H148Q	probably benign	Het
Zcchc3	A	G	2: 152,256,615 (GRCm39)	V28A	probably benign	Het
Zdbf2	T	A	1: 63,346,669 (GRCm39)	C1683S	probably benign	Het
Zfp874a	T	C	13: 67,573,723 (GRCm39)		probably null	Het
Zmym4	A	G	4: 126,776,029 (GRCm39)	S1260P	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
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

Predicted Primers

PCR Primer
(F):5'- TGAAGGCAATGTACAGCATTAGC -3'
(R):5'- GGGAGTCAATGTCTCATTCAAACC -3'

Sequencing Primer
(F):5'- GGCAATGTACAGCATTAGCATACTC -3'
(R):5'- TATGTCAAGTGTGCACTCGAAGGATC -3'

Posted On

2019-10-07