Incidental Mutation 'IGL01905:Naaladl1'
| ID |
179650 |
| 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 # |
IGL01905
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
6155812-6165822 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6165577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 744
(D744N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044231
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025702]
[ENSMUST00000044451]
[ENSMUST00000113533]
[ENSMUST00000154601]
|
| AlphaFold |
Q7M758 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025702
|
| SMART Domains |
Protein: ENSMUSP00000025702
Gene: ENSMUSG00000024787
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
8 |
126 |
1.78e-22 |
SMART |
|
low complexity region
|
140 |
151 |
N/A |
INTRINSIC |
|
MIT
|
265 |
337 |
7.77e-20 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044451
AA Change: D744N
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000044231
Gene: ENSMUSG00000054999
AA Change: D744N
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113533
|
| SMART Domains |
Protein: ENSMUSP00000109161
Gene: ENSMUSG00000024790
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
Pfam:SAC3_GANP
|
134 |
356 |
7.6e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154601
|
| SMART Domains |
Protein: ENSMUSP00000122740
Gene: ENSMUSG00000024787
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
8 |
126 |
1.78e-22 |
SMART |
|
low complexity region
|
140 |
151 |
N/A |
INTRINSIC |
|
Blast:MIT
|
222 |
251 |
4e-12 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
A |
T |
10: 78,903,582 (GRCm39) |
C245S |
probably damaging |
Het |
| Apol10b |
A |
G |
15: 77,469,559 (GRCm39) |
I206T |
possibly damaging |
Het |
| Bax |
A |
T |
7: 45,115,542 (GRCm39) |
I31N |
probably damaging |
Het |
| Ccdc116 |
C |
A |
16: 16,960,425 (GRCm39) |
V131L |
probably damaging |
Het |
| Ces2b |
C |
A |
8: 105,560,594 (GRCm39) |
N136K |
probably damaging |
Het |
| Csnk1d |
A |
T |
11: 120,864,789 (GRCm39) |
I65N |
probably damaging |
Het |
| Fam167b |
A |
G |
4: 129,470,892 (GRCm39) |
M152T |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Heatr6 |
C |
T |
11: 83,672,538 (GRCm39) |
S1182L |
probably benign |
Het |
| Lpcat4 |
T |
C |
2: 112,073,388 (GRCm39) |
|
probably null |
Het |
| Myh8 |
T |
C |
11: 67,175,477 (GRCm39) |
Y311H |
possibly damaging |
Het |
| Pik3r4 |
C |
A |
9: 105,522,077 (GRCm39) |
Y214* |
probably null |
Het |
| Proca1 |
A |
G |
11: 78,095,716 (GRCm39) |
H29R |
probably damaging |
Het |
| Prrc2c |
T |
C |
1: 162,532,898 (GRCm39) |
|
probably benign |
Het |
| Rcor3 |
G |
A |
1: 191,785,302 (GRCm39) |
P489S |
probably damaging |
Het |
| Rela |
A |
T |
19: 5,695,592 (GRCm39) |
N337I |
probably benign |
Het |
| Rnf123 |
C |
T |
9: 107,948,569 (GRCm39) |
|
probably benign |
Het |
| Septin9 |
T |
A |
11: 117,109,715 (GRCm39) |
S12T |
probably benign |
Het |
| Serpina1c |
A |
T |
12: 103,863,318 (GRCm39) |
L294Q |
possibly damaging |
Het |
| Slc12a5 |
A |
G |
2: 164,832,301 (GRCm39) |
D740G |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp473 |
T |
C |
7: 44,383,151 (GRCm39) |
K394R |
probably benign |
Het |
| Zkscan7 |
C |
T |
9: 122,719,826 (GRCm39) |
P171S |
possibly damaging |
Het |
| Zmynd19 |
T |
A |
2: 24,841,541 (GRCm39) |
F36L |
probably benign |
Het |
|
| Other mutations in Naaladl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01793:Naaladl1
|
APN |
19 |
6,159,661 (GRCm39) |
splice site |
probably null |
|
|
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 |
2014-05-07 |
Incidental Mutation