Mutagenetix > Incidental Mutation

Incidental Mutation 'R5198:Naaa'

400456

Institutional Source

Beutler Lab

Gene Symbol

Naaa

Ensembl Gene

ENSMUSG00000029413

Gene Name

N-acylethanolamine acid amidase

Synonyms

Asahl, 3830414F09Rik, 2210023K21Rik

MMRRC Submission

042774-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5198 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92405518-92426029 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 92415904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 65 (R65*)

Ref Sequence

ENSEMBL: ENSMUSP00000135610 (fasta)

Gene Model

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

AlphaFold

Q9D7V9

Predicted Effect

probably null
Transcript: ENSMUST00000113102
AA Change: R201*

SMART Domains

Protein: ENSMUSP00000108726
Gene: ENSMUSG00000029413
AA Change: R201*

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
AA Change: R199*

SMART Domains

Protein: ENSMUSP00000124582
Gene: ENSMUSG00000029413
AA Change: R199*

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

probably null
Transcript: ENSMUST00000175656
AA Change: R65*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (54/55)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,571,726 (GRCm39)	V1121A	probably benign	Het
Adamtsl3	A	C	7: 82,261,006 (GRCm39)	K1647Q	possibly damaging	Het
Adgrb1	A	T	15: 74,415,550 (GRCm39)	Q710L	probably null	Het
Alox12	T	C	11: 70,145,243 (GRCm39)	E110G	probably damaging	Het
Cep152	T	A	2: 125,429,544 (GRCm39)	M738L	probably benign	Het
Cma2	T	C	14: 56,209,532 (GRCm39)	V38A	probably benign	Het
Dlc1	C	T	8: 37,405,552 (GRCm39)	G79D	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dus3l	A	G	17: 57,076,574 (GRCm39)	I585V	probably benign	Het
Etl4	A	G	2: 20,718,198 (GRCm39)	Y313C	probably damaging	Het
Fbxw15	C	A	9: 109,387,242 (GRCm39)	S251I	probably benign	Het
Gata4	G	A	14: 63,437,900 (GRCm39)	S417L	probably benign	Het
Gdpd5	T	A	7: 99,087,515 (GRCm39)	Y60N	probably damaging	Het
Gm17669	T	C	18: 67,695,626 (GRCm39)	M57T	probably benign	Het
Gpr39	A	T	1: 125,605,173 (GRCm39)	I34F	probably benign	Het
Iffo2	T	A	4: 139,302,528 (GRCm39)	D90E	probably benign	Het
Il17c	A	G	8: 123,149,108 (GRCm39)	D84G	possibly damaging	Het
Itih3	T	C	14: 30,634,606 (GRCm39)	T134A	probably benign	Het
Lama2	G	A	10: 27,222,999 (GRCm39)	A429V	probably damaging	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Mug1	G	A	6: 121,851,521 (GRCm39)	R806H	probably damaging	Het
Nacc2	C	T	2: 25,950,346 (GRCm39)	M463I	probably benign	Het
Nemf	A	G	12: 69,402,821 (GRCm39)	S72P	probably damaging	Het
Nudt7	G	A	8: 114,862,185 (GRCm39)		probably null	Het
Or4b1b	T	C	2: 90,126,737 (GRCm39)	Q156R	probably damaging	Het
Or52z15	T	C	7: 103,331,936 (GRCm39)	S4P	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pacs1	T	C	19: 5,189,325 (GRCm39)	D757G	probably benign	Het
Pkd2	A	C	5: 104,630,958 (GRCm39)	I461L	probably benign	Het
Potegl	G	A	2: 23,102,473 (GRCm39)	C121Y	probably damaging	Het
Pramel5	T	G	4: 144,000,064 (GRCm39)		probably benign	Het
Ptgdr	G	C	14: 45,096,300 (GRCm39)	F137L	probably damaging	Het
Pum1	T	A	4: 130,507,190 (GRCm39)	C1085*	probably null	Het
Rfx3	T	C	19: 27,808,176 (GRCm39)	D189G	probably damaging	Het
Rlf	T	A	4: 121,005,750 (GRCm39)	K1077*	probably null	Het
Slc25a30	C	A	14: 76,007,056 (GRCm39)	D147Y	probably benign	Het
Smap2	T	C	4: 120,873,984 (GRCm39)	E22G	possibly damaging	Het
Szt2	T	C	4: 118,245,519 (GRCm39)	T1098A	probably benign	Het
Tbcc	T	C	17: 47,201,788 (GRCm39)	F58S	probably damaging	Het
Tekt3	G	A	11: 62,961,134 (GRCm39)	R101H	probably damaging	Het
Vcan	T	A	13: 89,838,991 (GRCm39)	E2184D	probably damaging	Het
Vkorc1	T	C	7: 127,493,760 (GRCm39)	E18G	probably benign	Het
Vmn1r68	T	C	7: 10,261,723 (GRCm39)	H125R	probably benign	Het
Vmn2r63	C	A	7: 42,553,169 (GRCm39)	V696L	probably benign	Het
Wdr59	G	A	8: 112,208,620 (GRCm39)	H421Y	probably benign	Het
Xkr7	T	C	2: 152,896,873 (GRCm39)	Y576H	probably damaging	Het
Zfp112	T	C	7: 23,824,281 (GRCm39)	V83A	possibly damaging	Het
Zfp616	G	A	11: 73,974,336 (GRCm39)	V293I	probably benign	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
R1658:Naaa	UTSW	5	92,420,300 (GRCm39)	splice site	probably null
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
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'- TCACCTTCAGCACTCACAGG -3'
(R):5'- CCAAGTTGGCTCAGAACTTTTG -3'

Sequencing Primer
(F):5'- TCAGCACTCACAGGCTACTTC -3'
(R):5'- GCTATGTAGGACTGTGGA -3'

Posted On

2016-07-06