Incidental Mutation 'IGL01793:Naaladl1'
| ID |
155285 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Naaladl1
|
| Ensembl Gene |
ENSMUSG00000054999 |
| Gene Name |
N-acetylated alpha-linked acidic dipeptidase-like 1 |
| Synonyms |
LOC381204 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.186)
|
| Stock # |
IGL01793
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
6155812-6165822 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 6159661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044231
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044451]
|
| AlphaFold |
Q7M758 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044451
|
| SMART Domains |
Protein: ENSMUSP00000044231
Gene: ENSMUSG00000054999
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
47 |
N/A |
INTRINSIC |
|
Pfam:PA
|
163 |
256 |
3e-12 |
PFAM |
|
Pfam:Peptidase_M28
|
353 |
564 |
1.3e-22 |
PFAM |
|
low complexity region
|
579 |
592 |
N/A |
INTRINSIC |
|
Pfam:TFR_dimer
|
621 |
740 |
4.5e-27 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
A |
G |
1: 58,375,783 (GRCm39) |
I871V |
possibly damaging |
Het |
| Bbs7 |
A |
T |
3: 36,659,831 (GRCm39) |
|
probably null |
Het |
| D930020B18Rik |
T |
C |
10: 121,507,736 (GRCm39) |
I158T |
probably damaging |
Het |
| Drc7 |
T |
C |
8: 95,797,905 (GRCm39) |
I441T |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,748,709 (GRCm39) |
I147T |
possibly damaging |
Het |
| Fat1 |
G |
A |
8: 45,442,149 (GRCm39) |
M1150I |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,229,213 (GRCm39) |
S523G |
possibly damaging |
Het |
| Gramd1a |
C |
T |
7: 30,833,838 (GRCm39) |
|
probably null |
Het |
| Hc |
A |
G |
2: 34,918,202 (GRCm39) |
Y694H |
probably damaging |
Het |
| Kif6 |
T |
A |
17: 49,931,521 (GRCm39) |
I73N |
probably damaging |
Het |
| Large1 |
A |
G |
8: 73,585,809 (GRCm39) |
|
probably benign |
Het |
| Luzp2 |
G |
T |
7: 54,821,997 (GRCm39) |
L171F |
probably damaging |
Het |
| Otop1 |
G |
A |
5: 38,457,215 (GRCm39) |
A325T |
possibly damaging |
Het |
| Parp8 |
T |
A |
13: 117,047,415 (GRCm39) |
Y219F |
probably damaging |
Het |
| Pkp3 |
A |
G |
7: 140,668,817 (GRCm39) |
I660V |
probably benign |
Het |
| Plin3 |
T |
C |
17: 56,588,540 (GRCm39) |
N238S |
probably benign |
Het |
| Ppef2 |
A |
T |
5: 92,394,615 (GRCm39) |
D186E |
probably damaging |
Het |
| Rab40c |
G |
A |
17: 26,103,596 (GRCm39) |
L156F |
probably damaging |
Het |
| Scnn1a |
T |
C |
6: 125,320,666 (GRCm39) |
V547A |
probably benign |
Het |
| Spag6l |
A |
G |
16: 16,599,721 (GRCm39) |
V247A |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,302,191 (GRCm39) |
E853G |
possibly damaging |
Het |
| Synj2 |
C |
T |
17: 6,077,500 (GRCm39) |
R460* |
probably null |
Het |
| Synj2 |
T |
A |
17: 6,088,321 (GRCm39) |
H1457Q |
probably benign |
Het |
| Syt1 |
T |
C |
10: 108,419,836 (GRCm39) |
D275G |
possibly damaging |
Het |
| Tmx1 |
A |
G |
12: 70,505,561 (GRCm39) |
D108G |
probably benign |
Het |
| Vmn1r180 |
T |
C |
7: 23,652,668 (GRCm39) |
V277A |
probably benign |
Het |
| Vmn1r83 |
C |
T |
7: 12,055,504 (GRCm39) |
M184I |
probably benign |
Het |
| Zfp750 |
G |
T |
11: 121,404,810 (GRCm39) |
P22T |
probably damaging |
Het |
| Zscan2 |
A |
G |
7: 80,524,692 (GRCm39) |
I138V |
probably null |
Het |
|
| Other mutations in Naaladl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01905:Naaladl1
|
APN |
19 |
6,165,577 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02491:Naaladl1
|
APN |
19 |
6,159,748 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03135:Naaladl1
|
APN |
19 |
6,162,386 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03143:Naaladl1
|
APN |
19 |
6,164,896 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03340:Naaladl1
|
APN |
19 |
6,156,229 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
PIT4466001:Naaladl1
|
UTSW |
19 |
6,164,663 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0102:Naaladl1
|
UTSW |
19 |
6,162,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0102:Naaladl1
|
UTSW |
19 |
6,162,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0734:Naaladl1
|
UTSW |
19 |
6,162,904 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2291:Naaladl1
|
UTSW |
19 |
6,156,225 (GRCm39) |
missense |
probably benign |
|
|
R3805:Naaladl1
|
UTSW |
19 |
6,164,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4414:Naaladl1
|
UTSW |
19 |
6,165,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4694:Naaladl1
|
UTSW |
19 |
6,158,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5819:Naaladl1
|
UTSW |
19 |
6,159,684 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6103:Naaladl1
|
UTSW |
19 |
6,158,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6141:Naaladl1
|
UTSW |
19 |
6,159,785 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6896:Naaladl1
|
UTSW |
19 |
6,159,335 (GRCm39) |
splice site |
probably null |
|
|
R6950:Naaladl1
|
UTSW |
19 |
6,156,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6995:Naaladl1
|
UTSW |
19 |
6,165,578 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7130:Naaladl1
|
UTSW |
19 |
6,156,018 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7810:Naaladl1
|
UTSW |
19 |
6,159,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7972:Naaladl1
|
UTSW |
19 |
6,156,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8343:Naaladl1
|
UTSW |
19 |
6,159,703 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8468:Naaladl1
|
UTSW |
19 |
6,158,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9004:Naaladl1
|
UTSW |
19 |
6,155,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9052:Naaladl1
|
UTSW |
19 |
6,158,716 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9314:Naaladl1
|
UTSW |
19 |
6,162,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9390:Naaladl1
|
UTSW |
19 |
6,162,725 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9432:Naaladl1
|
UTSW |
19 |
6,156,917 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Posted On |
2014-02-04 |
Incidental Mutation