Mutagenetix > Incidental Mutations

Incidental Mutation 'R3788:Naaa'

272370

Institutional Source

Beutler Lab

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 #

R3788 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92257659-92278170 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 92272554 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135610 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113102
AA Change: V135M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108726
Gene: ENSMUSG00000029413
AA Change: V135M

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 damaging
Transcript: ENSMUST00000159345
AA Change: V133M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124582
Gene: ENSMUSG00000029413
AA Change: V133M

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

Meta Mutation Damage Score

0.7387

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,288,297		probably null	Het
Abca4	T	A	3: 122,052,912	V26E	possibly damaging	Het
Abhd16a	A	G	17: 35,101,587	N411S	probably damaging	Het
Akap13	G	A	7: 75,702,153		probably null	Het
Aph1b	T	C	9: 66,794,066		probably benign	Het
Aspm	C	T	1: 139,463,203	T742I	probably damaging	Het
Bclaf3	A	G	X: 159,566,496	H619R	probably benign	Het
Cemip	A	T	7: 83,943,898	L1199H	probably damaging	Het
Chd2	G	A	7: 73,447,130		probably benign	Het
Clnk	A	G	5: 38,714,998	Y310H	probably damaging	Het
Crmp1	A	G	5: 37,284,140	D522G	probably damaging	Het
Cyth3	A	G	5: 143,636,543		probably benign	Het
Dcbld1	T	A	10: 52,319,658	Y392N	probably damaging	Het
Fam60a	A	G	6: 148,926,119	S134P	possibly damaging	Het
Flnc	T	C	6: 29,454,057	F1820L	probably damaging	Het
Galnt18	G	A	7: 111,520,115	R385*	probably null	Het
Gpatch3	C	A	4: 133,575,168	R137S	possibly damaging	Het
Gpc6	C	T	14: 117,624,466	P265S	probably damaging	Het
Harbi1	T	A	2: 91,720,607	D308E	probably benign	Het
Hdhd2	G	A	18: 76,955,187		probably null	Het
Hk1	T	C	10: 62,275,688	K737E	possibly damaging	Het
Hnrnpr	G	A	4: 136,336,313	V345M	probably damaging	Het
Kalrn	T	C	16: 34,220,240	H944R	probably damaging	Het
Kdm2a	A	T	19: 4,351,805	C207S	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Krt75	C	T	15: 101,573,521	G104D	possibly damaging	Het
Lnpk	A	T	2: 74,522,263	S358R	probably benign	Het
Map2	A	G	1: 66,416,863	T1512A	probably damaging	Het
March10	T	A	11: 105,397,079	L132F	probably damaging	Het
Mfrp	G	A	9: 44,105,457	W65*	probably null	Het
Mgat5	A	G	1: 127,366,443	D174G	probably benign	Het
Miga2	T	A	2: 30,371,225	Y177*	probably null	Het
Mroh3	T	C	1: 136,185,475	D747G	probably damaging	Het
Muc5b	A	G	7: 141,863,834	T3506A	possibly damaging	Het
Myo7b	G	T	18: 31,974,112	P1277T	possibly damaging	Het
Ndufs2	T	C	1: 171,235,320	D410G	possibly damaging	Het
Olfr506	T	A	7: 108,613,073	Y255*	probably null	Het
Olfr559	A	G	7: 102,723,487		probably null	Het
Olfr873	A	G	9: 20,300,370	I58V	probably benign	Het
Olfr955	A	G	9: 39,470,069	I219T	probably benign	Het
Osbp	A	T	19: 11,978,921	Y409F	probably benign	Het
Plxnb1	T	A	9: 109,109,287	V1303D	possibly damaging	Het
Prkcg	G	A	7: 3,313,747	D246N	probably damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,219,203		probably benign	Het
Sbf1	G	A	15: 89,299,528	R1261*	probably null	Het
Scn4a	T	C	11: 106,344,274	N341S	probably damaging	Het
Sec61a2	C	A	2: 5,879,625		probably null	Het
Sgcd	T	A	11: 47,355,205	K57*	probably null	Het
Slc12a5	T	C	2: 164,993,775	L861P	probably damaging	Het
Slc6a16	A	G	7: 45,259,962	D184G	probably benign	Het
Snx7	A	G	3: 117,838,990		probably benign	Het
Sptbn2	A	G	19: 4,745,922	I1710V	probably damaging	Het
Sytl2	A	T	7: 90,376,081	I426F	probably benign	Het
Tdp1	A	G	12: 99,891,752		probably benign	Het
Tmem232	C	A	17: 65,382,633	D496Y	possibly damaging	Het
Tomm20l	C	T	12: 71,111,742	A58V	possibly damaging	Het
Ttc26	T	A	6: 38,403,524		probably null	Het
Ttn	T	C	2: 76,945,274	E1854G	unknown	Het
Ttn	A	G	2: 76,974,208	V240A	probably benign	Het
Vmn2r98	A	T	17: 19,080,625	T630S	probably benign	Het
Xrcc1	G	C	7: 24,566,908	A220P	probably benign	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
IGL01990:Naaa	APN	5	92268063	missense	possibly damaging	0.75
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
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

Predicted Primers

PCR Primer
(F):5'- ATGCATGGCTGTTCCTACTC -3'
(R):5'- TGGGTCAATGACAGGGTCTAG -3'

Sequencing Primer
(F):5'- ACTCCTGATCTCTGCATGTG -3'
(R):5'- TCAATGACAGGGTCTAGATGTG -3'

Posted On

2015-03-25