Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01990:Naaa'

182024

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Naaa

Ensembl Gene

ENSMUSG00000029413

Gene Name

N-acylethanolamine acid amidase

Synonyms

3830414F09Rik, Asahl, 2210023K21Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01990

Quality Score

Status

Chromosome

Chromosomal Location

92257659-92278170 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92268063 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 193 (T193S)

Ref Sequence

ENSEMBL: ENSMUSP00000124582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113102] [ENSMUST00000159345] [ENSMUST00000175656]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113102
AA Change: T195S

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108726
Gene: ENSMUSG00000029413
AA Change: T195S

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:NAAA-beta	36	127	7.3e-26	PFAM
Pfam:CBAH	131	362	9e-11	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159345
AA Change: T193S

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124582
Gene: ENSMUSG00000029413
AA Change: T193S

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:NAAA-beta	36	125	1.3e-23	PFAM
Pfam:CBAH	129	360	1.6e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000175656
AA Change: T59S

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)

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 an N-acylethanolamine-hydrolyzing enzyme which is highly similar to acid ceramidase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	A	G	17: 33,434,094	N376S	probably benign	Het
Adgrv1	T	C	13: 81,556,996	D1565G	probably damaging	Het
Atf5	T	G	7: 44,813,049	D217A	probably damaging	Het
Azgp1	T	C	5: 137,989,735	W260R	probably damaging	Het
Cnr2	C	T	4: 135,916,805	R65C	probably damaging	Het
Col14a1	A	G	15: 55,363,463	Y203C	unknown	Het
Colec11	A	G	12: 28,594,986	Y170H	probably benign	Het
Exosc10	A	G	4: 148,566,410	Q471R	possibly damaging	Het
Gal3st1	G	T	11: 3,998,741	W316L	probably damaging	Het
Igfbp3	C	A	11: 7,208,504	R253L	probably damaging	Het
Kcnb2	A	T	1: 15,312,954	D168V	probably benign	Het
Khnyn	T	G	14: 55,887,588	I433S	possibly damaging	Het
Nsun7	G	A	5: 66,261,073	D49N	probably damaging	Het
Pappa	T	C	4: 65,156,687		probably benign	Het
Pfkfb2	A	G	1: 130,705,370		probably benign	Het
Pkd1l3	C	T	8: 109,660,806	T1794I	probably damaging	Het
Prex2	A	C	1: 11,123,233		probably benign	Het
Slc2a7	T	G	4: 150,154,684	I122S	possibly damaging	Het
Slc31a2	A	G	4: 62,295,970	K53E	probably benign	Het
Slc35f4	C	T	14: 49,304,169		probably null	Het
Slc38a7	C	T	8: 95,844,962	W213*	probably null	Het
Slc5a4b	T	C	10: 76,060,354	E589G	probably benign	Het
Syne2	A	G	12: 76,054,933	N5407S	probably damaging	Het
Tgm2	A	T	2: 158,124,131	D534E	probably benign	Het
Ugt1a7c	A	G	1: 88,095,602	Y161C	probably damaging	Het
Vmn2r114	A	G	17: 23,310,381	M249T	probably benign	Het
Xkr9	A	G	1: 13,700,979	I240V	probably benign	Het
Zfat	A	G	15: 68,224,817	L49P	probably damaging	Het
Zfhx2	G	T	14: 55,073,590	P549H	probably damaging	Het
Zfp551	C	T	7: 12,422,416	V25M	possibly damaging	Het

Other mutations in Naaa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01336:Naaa	APN	5	92265133	missense	probably benign	0.32
IGL01470:Naaa	APN	5	92263648	missense	probably damaging	1.00
IGL02222:Naaa	APN	5	92259550	unclassified	probably benign
R0254:Naaa	UTSW	5	92265135	missense	probably damaging	1.00
R1658:Naaa	UTSW	5	92272441	splice site	probably null
R1930:Naaa	UTSW	5	92278035	missense	probably benign
R1931:Naaa	UTSW	5	92278035	missense	probably benign
R3788:Naaa	UTSW	5	92272554	splice site	probably null
R4182:Naaa	UTSW	5	92272554	splice site	probably null
R4373:Naaa	UTSW	5	92278143	utr 5 prime	probably benign
R4547:Naaa	UTSW	5	92263586	splice site	probably null
R5198:Naaa	UTSW	5	92268045	nonsense	probably null
R5732:Naaa	UTSW	5	92263455	missense	probably damaging	1.00
R6009:Naaa	UTSW	5	92259581	missense	probably benign
R7037:Naaa	UTSW	5	92277075	missense	possibly damaging	0.46
R7540:Naaa	UTSW	5	92263724	missense	probably benign	0.15
R8280:Naaa	UTSW	5	92263449	missense	probably damaging	0.99

Posted On

2014-05-07