Incidental Mutation 'IGL01470:Naaa'
| ID |
88250 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Naaa
|
| Ensembl Gene |
ENSMUSG00000029413 |
| Gene Name |
N-acylethanolamine acid amidase |
| Synonyms |
Asahl, 3830414F09Rik, 2210023K21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01470
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
92405518-92426029 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92411507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q9D7V9 |
| 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
| 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: I264T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124582
Gene: ENSMUSG00000029413
AA Change: I264T
| 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: 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,382,414 (GRCm39) |
T1184A |
possibly damaging |
Het |
| A2ml1 |
A |
G |
6: 128,557,375 (GRCm39) |
I106T |
probably damaging |
Het |
| Asic4 |
C |
T |
1: 75,427,510 (GRCm39) |
A12V |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,821,099 (GRCm39) |
V1139D |
probably damaging |
Het |
| Edc4 |
T |
C |
8: 106,616,613 (GRCm39) |
|
probably benign |
Het |
| Eif4h |
A |
T |
5: 134,654,393 (GRCm39) |
|
probably null |
Het |
| Exog |
C |
A |
9: 119,291,592 (GRCm39) |
Q290K |
probably damaging |
Het |
| Fam83c |
A |
T |
2: 155,676,728 (GRCm39) |
I14K |
possibly damaging |
Het |
| Fes |
A |
T |
7: 80,033,021 (GRCm39) |
Y268N |
probably benign |
Het |
| Fhod1 |
A |
G |
8: 106,056,281 (GRCm39) |
L1144P |
probably damaging |
Het |
| Frem3 |
C |
T |
8: 81,340,944 (GRCm39) |
T1079I |
probably damaging |
Het |
| Gbp10 |
A |
G |
5: 105,368,980 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,404,918 (GRCm39) |
V4496A |
possibly damaging |
Het |
| Lamb1 |
A |
G |
12: 31,350,261 (GRCm39) |
R729G |
possibly damaging |
Het |
| Lifr |
T |
A |
15: 7,205,147 (GRCm39) |
C461* |
probably null |
Het |
| Lypd6 |
T |
C |
2: 50,078,795 (GRCm39) |
V97A |
probably benign |
Het |
| Map3k5 |
A |
G |
10: 19,993,933 (GRCm39) |
E973G |
possibly damaging |
Het |
| Mep1b |
A |
T |
18: 21,230,524 (GRCm39) |
N692I |
probably benign |
Het |
| Mrpl15 |
A |
G |
1: 4,846,754 (GRCm39) |
V274A |
probably damaging |
Het |
| Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or4x11 |
T |
C |
2: 89,868,162 (GRCm39) |
W300R |
possibly damaging |
Het |
| Or5b95 |
T |
C |
19: 12,658,035 (GRCm39) |
S188P |
possibly damaging |
Het |
| Or8b38 |
A |
T |
9: 37,973,300 (GRCm39) |
H228L |
possibly damaging |
Het |
| Or8k3 |
T |
C |
2: 86,058,628 (GRCm39) |
N229S |
probably benign |
Het |
| Phc2 |
C |
T |
4: 128,616,903 (GRCm39) |
T392I |
probably benign |
Het |
| Ptprg |
G |
A |
14: 12,213,702 (GRCm38) |
W248* |
probably null |
Het |
| Pzp |
T |
A |
6: 128,498,087 (GRCm39) |
E243D |
probably benign |
Het |
| Rbm33 |
T |
A |
5: 28,592,846 (GRCm39) |
L542Q |
probably damaging |
Het |
| Recql4 |
G |
A |
15: 76,593,144 (GRCm39) |
T229I |
probably benign |
Het |
| Ssbp3 |
T |
C |
4: 106,894,855 (GRCm39) |
|
probably benign |
Het |
| Tfap2d |
A |
T |
1: 19,218,620 (GRCm39) |
Q373L |
probably damaging |
Het |
| Timmdc1 |
A |
G |
16: 38,338,902 (GRCm39) |
|
probably benign |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,820,209 (GRCm39) |
|
probably benign |
Het |
| Zfp551 |
A |
G |
7: 12,152,468 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2013-11-18 |
Incidental Mutation