Incidental Mutation 'IGL01336:Naaa'
| ID |
74634 |
| 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 # |
IGL01336
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
92405518-92426029 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 92412992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 208
(M208R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113102]
[ENSMUST00000159345]
[ENSMUST00000175656]
|
| AlphaFold |
Q9D7V9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113102
AA Change: M210R
PolyPhen 2
Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000108726
Gene: ENSMUSG00000029413
AA Change: M210R
| 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 benign
Transcript: ENSMUST00000159345
AA Change: M208R
PolyPhen 2
Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124582
Gene: ENSMUSG00000029413
AA Change: M208R
| 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 benign
Transcript: ENSMUST00000175656
AA Change: M74R
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
G |
T |
11: 100,386,736 (GRCm39) |
L599I |
probably benign |
Het |
| Adcyap1 |
A |
G |
17: 93,511,392 (GRCm39) |
D122G |
probably benign |
Het |
| Ahr |
A |
G |
12: 35,553,839 (GRCm39) |
V760A |
probably benign |
Het |
| Ankrd7 |
T |
C |
6: 18,868,277 (GRCm39) |
V133A |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,988,984 (GRCm39) |
V2256A |
probably damaging |
Het |
| Cblb |
A |
G |
16: 52,006,592 (GRCm39) |
K765E |
probably benign |
Het |
| Clmp |
A |
G |
9: 40,693,906 (GRCm39) |
*374W |
probably null |
Het |
| Ddc |
A |
G |
11: 11,796,630 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,852,576 (GRCm39) |
Y1878C |
probably damaging |
Het |
| Ei24 |
A |
G |
9: 36,697,777 (GRCm39) |
|
probably null |
Het |
| Ikbke |
A |
G |
1: 131,201,493 (GRCm39) |
M118T |
probably damaging |
Het |
| Il6st |
T |
C |
13: 112,616,773 (GRCm39) |
S107P |
possibly damaging |
Het |
| Map2k6 |
A |
G |
11: 110,387,237 (GRCm39) |
Y203C |
probably damaging |
Het |
| Mettl27 |
C |
T |
5: 134,964,734 (GRCm39) |
|
probably benign |
Het |
| Mrps14 |
G |
A |
1: 160,024,565 (GRCm39) |
W32* |
probably null |
Het |
| Nat2 |
A |
G |
8: 67,954,193 (GRCm39) |
Y101C |
probably damaging |
Het |
| Ncoa3 |
A |
G |
2: 165,896,443 (GRCm39) |
S449G |
probably benign |
Het |
| Or4e5 |
A |
G |
14: 52,728,205 (GRCm39) |
I72T |
probably damaging |
Het |
| Or6z7 |
T |
C |
7: 6,483,997 (GRCm39) |
I53V |
probably benign |
Het |
| Phykpl |
G |
A |
11: 51,490,283 (GRCm39) |
|
probably benign |
Het |
| Psma5-ps |
T |
C |
10: 85,150,028 (GRCm39) |
|
noncoding transcript |
Het |
| Rasgrf1 |
A |
T |
9: 89,873,583 (GRCm39) |
M631L |
probably benign |
Het |
| Rgma |
G |
A |
7: 73,059,066 (GRCm39) |
V57M |
possibly damaging |
Het |
| Samd4b |
G |
T |
7: 28,113,388 (GRCm39) |
D192E |
probably benign |
Het |
| Sesn2 |
T |
C |
4: 132,226,678 (GRCm39) |
T139A |
probably benign |
Het |
| Slc30a6 |
A |
G |
17: 74,715,834 (GRCm39) |
|
probably benign |
Het |
| Spata31f1e |
T |
A |
4: 42,793,784 (GRCm39) |
Q116L |
possibly damaging |
Het |
| Stra8 |
T |
C |
6: 34,910,123 (GRCm39) |
Y182H |
possibly damaging |
Het |
| Trim31 |
C |
A |
17: 37,220,269 (GRCm39) |
A395E |
probably damaging |
Het |
| Trp53bp2 |
G |
T |
1: 182,259,148 (GRCm39) |
R67L |
probably damaging |
Het |
| Trpa1 |
A |
C |
1: 14,957,104 (GRCm39) |
|
probably benign |
Het |
| Wdr91 |
G |
A |
6: 34,886,478 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Naaa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2013-10-07 |
Incidental Mutation