Incidental Mutation 'IGL01470:Naaa'
ID88250
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Naaa
Ensembl Gene ENSMUSG00000029413
Gene NameN-acylethanolamine acid amidase
Synonyms3830414F09Rik, Asahl, 2210023K21Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01470
Quality Score
Status
Chromosome5
Chromosomal Location92257659-92278170 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 92263648 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 264 (I264T)
Ref Sequence ENSEMBL: ENSMUSP00000124582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113102] [ENSMUST00000159345] [ENSMUST00000175656]
Predicted Effect probably damaging
Transcript: ENSMUST00000113102
AA Change: I266T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108726
Gene: ENSMUSG00000029413
AA Change: I266T

DomainStartEndE-ValueType
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: I264T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124582
Gene: ENSMUSG00000029413
AA Change: I264T

DomainStartEndE-ValueType
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: ENSMUST00000159732
Predicted Effect probably damaging
Transcript: ENSMUST00000175656
AA Change: I130T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,660,457 T1184A possibly damaging Het
A2ml1 A G 6: 128,580,412 I106T probably damaging Het
Asic4 C T 1: 75,450,866 A12V probably damaging Het
Cacna1d A T 14: 30,099,142 V1139D probably damaging Het
Edc4 T C 8: 105,889,981 probably benign Het
Eif4h A T 5: 134,625,539 probably null Het
Exog C A 9: 119,462,526 Q290K probably damaging Het
Fam83c A T 2: 155,834,808 I14K possibly damaging Het
Fes A T 7: 80,383,273 Y268N probably benign Het
Fhod1 A G 8: 105,329,649 L1144P probably damaging Het
Frem3 C T 8: 80,614,315 T1079I probably damaging Het
Gbp10 A G 5: 105,221,114 probably benign Het
Herc1 T C 9: 66,497,636 V4496A possibly damaging Het
Lamb1 A G 12: 31,300,262 R729G possibly damaging Het
Lifr T A 15: 7,175,666 C461* probably null Het
Lypd6 T C 2: 50,188,783 V97A probably benign Het
Map3k5 A G 10: 20,118,187 E973G possibly damaging Het
Mep1b A T 18: 21,097,467 N692I probably benign Het
Mrpl15 A G 1: 4,776,531 V274A probably damaging Het
Nlrp4c T C 7: 6,100,784 C906R possibly damaging Het
Olfr1047 T C 2: 86,228,284 N229S probably benign Het
Olfr1265 T C 2: 90,037,818 W300R possibly damaging Het
Olfr1443 T C 19: 12,680,671 S188P possibly damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr885 A T 9: 38,062,004 H228L possibly damaging Het
Phc2 C T 4: 128,723,110 T392I probably benign Het
Ptprg G A 14: 12,213,702 W248* probably null Het
Pzp T A 6: 128,521,124 E243D probably benign Het
Rbm33 T A 5: 28,387,848 L542Q probably damaging Het
Recql4 G A 15: 76,708,944 T229I probably benign Het
Ssbp3 T C 4: 107,037,658 probably benign Het
Tfap2d A T 1: 19,148,396 Q373L probably damaging Het
Timmdc1 A G 16: 38,518,540 probably benign Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Vps13c T C 9: 67,912,927 probably benign Het
Zfp551 A G 7: 12,418,541 probably null Het
Other mutations in Naaa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01336:Naaa APN 5 92265133 missense probably benign 0.32
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
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 On2013-11-18