Mutagenetix > Incidental Mutation

Incidental Mutation 'R1658:Naaa'

186521

Institutional Source

Beutler Lab

Gene Symbol

Naaa

Ensembl Gene

ENSMUSG00000029413

Gene Name

N-acylethanolamine acid amidase

Synonyms

Asahl, 3830414F09Rik, 2210023K21Rik

MMRRC Submission

039694-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1658 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92405518-92426029 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to C at 92420300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135610 (fasta)

Gene Model

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

AlphaFold

Q9D7V9

Predicted Effect

probably null
Transcript: ENSMUST00000113102

SMART Domains

Protein: ENSMUSP00000108726
Gene: ENSMUSG00000029413

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

probably null
Transcript: ENSMUST00000159345

SMART Domains

Protein: ENSMUSP00000124582
Gene: ENSMUSG00000029413

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

noncoding transcript
Transcript: ENSMUST00000161212

Predicted Effect

probably null
Transcript: ENSMUST00000175656

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	G	5: 129,255,164 (GRCm39)	S604A	probably benign	Het
Apbb1	G	A	7: 105,223,291 (GRCm39)	P107S	probably damaging	Het
Baz2a	T	A	10: 127,960,252 (GRCm39)	M1489K	probably benign	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdca2	A	G	14: 67,915,148 (GRCm39)	S704P	possibly damaging	Het
Cemip2	T	C	19: 21,779,243 (GRCm39)	V351A	probably damaging	Het
Chfr	T	C	5: 110,301,035 (GRCm39)	I312T	probably damaging	Het
Csmd1	A	G	8: 16,131,739 (GRCm39)	V1662A	possibly damaging	Het
Dgkd	T	A	1: 87,853,990 (GRCm39)	L611Q	probably damaging	Het
Dicer1	A	G	12: 104,666,673 (GRCm39)	V1376A	probably benign	Het
Elp2	C	T	18: 24,750,470 (GRCm39)	T269M	probably benign	Het
Ephb6	T	A	6: 41,591,179 (GRCm39)	V112E	probably damaging	Het
Fbxo11	A	T	17: 88,320,086 (GRCm39)	Y209N	probably benign	Het
Frem1	C	T	4: 82,920,045 (GRCm39)	R437Q	probably damaging	Het
G6pc2	A	T	2: 69,057,413 (GRCm39)	K353M	probably damaging	Het
Gabbr1	A	G	17: 37,358,399 (GRCm39)	T46A	probably damaging	Het
Gbp9	T	A	5: 105,242,334 (GRCm39)	Q135L	probably damaging	Het
Gstp1	A	T	19: 4,087,375 (GRCm39)	M20K	probably damaging	Het
Heatr6	A	G	11: 83,649,193 (GRCm39)	R183G	probably damaging	Het
Ints11	A	G	4: 155,972,185 (GRCm39)	K397E	probably damaging	Het
Intu	A	G	3: 40,647,211 (GRCm39)	T695A	probably benign	Het
Kif21b	T	C	1: 136,099,023 (GRCm39)	V1437A	probably damaging	Het
Klhl24	T	A	16: 19,925,842 (GRCm39)	Y123*	probably null	Het
Lipm	C	T	19: 34,093,847 (GRCm39)	L255F	probably benign	Het
Max	A	T	12: 76,985,355 (GRCm39)	M121K	probably benign	Het
Mga	A	T	2: 119,772,170 (GRCm39)	I1677L	possibly damaging	Het
Msantd1	T	A	5: 35,078,906 (GRCm39)	L147Q	probably benign	Het
Msantd1	C	A	5: 35,078,905 (GRCm39)	L147M	probably damaging	Het
Mylk4	T	C	13: 32,896,772 (GRCm39)	D363G	possibly damaging	Het
Ninl	A	G	2: 150,806,079 (GRCm39)	Y381H	probably damaging	Het
Nwd2	A	G	5: 63,964,589 (GRCm39)	N1391S	probably damaging	Het
Or6k8-ps1	G	A	1: 173,979,789 (GRCm39)	A236T	probably damaging	Het
Or8g18	C	T	9: 39,149,255 (GRCm39)	C155Y	probably benign	Het
Phip	A	G	9: 82,753,551 (GRCm39)	V1731A	probably benign	Het
Plxnb1	T	A	9: 108,931,939 (GRCm39)	C488*	probably null	Het
Rgs7	T	C	1: 174,907,120 (GRCm39)	I374V	probably benign	Het
Rin2	A	T	2: 145,718,376 (GRCm39)	M574L	probably benign	Het
Rps18	A	T	17: 34,171,392 (GRCm39)	D92E	probably benign	Het
Scrn1	T	A	6: 54,497,791 (GRCm39)	I267L	probably benign	Het
Stard9	T	C	2: 120,532,023 (GRCm39)	V67A	probably benign	Het
Syne1	T	G	10: 5,317,616 (GRCm39)	M493L	probably benign	Het
Tbc1d2	G	A	4: 46,614,207 (GRCm39)	R625C	probably damaging	Het
Tcerg1l	A	G	7: 137,995,909 (GRCm39)	S200P	probably damaging	Het
Tet3	A	T	6: 83,346,039 (GRCm39)	V1331E	probably benign	Het
Ticrr	A	T	7: 79,345,297 (GRCm39)	I1721F	possibly damaging	Het
Tjp2	T	C	19: 24,090,311 (GRCm39)	D577G	probably damaging	Het
Tmem38b	A	G	4: 53,840,713 (GRCm39)	M43V	probably benign	Het
Trabd	T	A	15: 88,970,069 (GRCm39)		probably null	Het
Trpv5	C	A	6: 41,651,216 (GRCm39)	D277Y	probably damaging	Het
Tubb1	A	C	2: 174,298,416 (GRCm39)	D67A	probably damaging	Het
Ubxn7	A	G	16: 32,200,054 (GRCm39)		probably null	Het
Ugp2	G	A	11: 21,283,774 (GRCm39)	P98S	probably benign	Het
Vmn2r66	G	T	7: 84,656,955 (GRCm39)	P150Q	probably benign	Het
Zbtb11	A	T	16: 55,794,588 (GRCm39)	H55L	possibly damaging	Het

Other mutations in Naaa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01336:Naaa	APN	5	92,412,992 (GRCm39)	missense	probably benign	0.32
IGL01470:Naaa	APN	5	92,411,507 (GRCm39)	missense	probably damaging	1.00
IGL01990:Naaa	APN	5	92,415,922 (GRCm39)	missense	possibly damaging	0.75
IGL02222:Naaa	APN	5	92,407,409 (GRCm39)	unclassified	probably benign
R0254:Naaa	UTSW	5	92,412,994 (GRCm39)	missense	probably damaging	1.00
R1930:Naaa	UTSW	5	92,425,894 (GRCm39)	missense	probably benign
R1931:Naaa	UTSW	5	92,425,894 (GRCm39)	missense	probably benign
R3788:Naaa	UTSW	5	92,420,413 (GRCm39)	splice site	probably null
R4182:Naaa	UTSW	5	92,420,413 (GRCm39)	splice site	probably null
R4373:Naaa	UTSW	5	92,426,002 (GRCm39)	utr 5 prime	probably benign
R4547:Naaa	UTSW	5	92,411,445 (GRCm39)	splice site	probably null
R5198:Naaa	UTSW	5	92,415,904 (GRCm39)	nonsense	probably null
R5732:Naaa	UTSW	5	92,411,314 (GRCm39)	missense	probably damaging	1.00
R6009:Naaa	UTSW	5	92,407,440 (GRCm39)	missense	probably benign
R7037:Naaa	UTSW	5	92,424,934 (GRCm39)	missense	possibly damaging	0.46
R7540:Naaa	UTSW	5	92,411,583 (GRCm39)	missense	probably benign	0.15
R8280:Naaa	UTSW	5	92,411,308 (GRCm39)	missense	probably damaging	0.99
R9039:Naaa	UTSW	5	92,420,300 (GRCm39)	splice site	probably benign
R9219:Naaa	UTSW	5	92,425,864 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATTCCAAATGAGACGCCCTGCC -3'
(R):5'- TGCCAGCGATAAGCAAGAGAATCTG -3'

Sequencing Primer
(F):5'- AGACGCCCTGCCGATTTC -3'
(R):5'- GACAGAAACCTCGCTGTCTTTG -3'

Posted On

2014-05-09