Incidental Mutation 'R3805:Naaladl1'
| ID |
274571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Naaladl1
|
| Ensembl Gene |
ENSMUSG00000054999 |
| Gene Name |
N-acetylated alpha-linked acidic dipeptidase-like 1 |
| Synonyms |
LOC381204 |
| MMRRC Submission |
040762-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.186)
|
| Stock # |
R3805 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6155812-6165822 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6164895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 628
(T628A)
|
| 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 |
probably benign
Transcript: ENSMUST00000044451
AA Change: T628A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000044231
Gene: ENSMUSG00000054999
AA Change: T628A
| 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 |
|
| Meta Mutation Damage Score |
0.0744 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Aebp2 |
GCGGCC |
GCGGCCGGCC |
6: 140,589,675 (GRCm39) |
|
probably null |
Het |
| Ano5 |
T |
C |
7: 51,226,398 (GRCm39) |
F584L |
probably benign |
Het |
| Ap1b1 |
T |
A |
11: 4,983,225 (GRCm39) |
|
probably null |
Het |
| Bicd1 |
T |
A |
6: 149,420,489 (GRCm39) |
L780M |
probably damaging |
Het |
| Ccdc138 |
T |
C |
10: 58,397,819 (GRCm39) |
I553T |
possibly damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Ctu1 |
T |
C |
7: 43,326,097 (GRCm39) |
L252P |
probably damaging |
Het |
| Dhrs2 |
A |
T |
14: 55,472,205 (GRCm39) |
N32I |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 31,016,720 (GRCm39) |
M1599K |
possibly damaging |
Het |
| Eri2 |
A |
T |
7: 119,385,231 (GRCm39) |
C423* |
probably null |
Het |
| Fam169a |
G |
A |
13: 97,234,192 (GRCm39) |
V155I |
probably benign |
Het |
| Get4 |
G |
T |
5: 139,238,286 (GRCm39) |
V23F |
probably damaging |
Het |
| Hdac3 |
A |
G |
18: 38,078,745 (GRCm39) |
|
probably null |
Het |
| Herc3 |
C |
A |
6: 58,893,835 (GRCm39) |
H970Q |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,034,548 (GRCm39) |
|
probably null |
Het |
| Ifit1 |
A |
G |
19: 34,625,556 (GRCm39) |
I231V |
probably damaging |
Het |
| Lingo4 |
A |
G |
3: 94,309,407 (GRCm39) |
D115G |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,891,130 (GRCm39) |
I346V |
probably benign |
Het |
| Map7d1 |
A |
T |
4: 126,131,084 (GRCm39) |
|
probably null |
Het |
| Morf4l1 |
A |
G |
9: 89,977,196 (GRCm39) |
S203P |
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,264,277 (GRCm39) |
C643* |
probably null |
Het |
| Or4ac1-ps1 |
A |
T |
2: 88,370,700 (GRCm39) |
|
noncoding transcript |
Het |
| Or4b1 |
T |
G |
2: 89,978,805 (GRCm39) |
|
probably benign |
Het |
| Oxtr |
T |
C |
6: 112,454,147 (GRCm39) |
K39R |
probably benign |
Het |
| Ppp4r4 |
T |
A |
12: 103,566,625 (GRCm39) |
M24K |
probably damaging |
Het |
| Ppp6r2 |
T |
C |
15: 89,149,842 (GRCm39) |
F256L |
probably benign |
Het |
| Robo4 |
A |
T |
9: 37,315,734 (GRCm39) |
D329V |
possibly damaging |
Het |
| Rsph10b |
G |
A |
5: 143,895,206 (GRCm39) |
|
probably null |
Het |
| Slc9b2 |
T |
C |
3: 135,030,349 (GRCm39) |
L222P |
probably damaging |
Het |
| Speer4a1 |
C |
T |
5: 26,240,082 (GRCm39) |
E223K |
possibly damaging |
Het |
| St18 |
T |
A |
1: 6,872,577 (GRCm39) |
L104H |
probably damaging |
Het |
| Tmem184c |
C |
A |
8: 78,323,504 (GRCm39) |
D453Y |
unknown |
Het |
| Trpv1 |
A |
T |
11: 73,143,879 (GRCm39) |
N237I |
probably damaging |
Het |
| Vmn2r77 |
T |
A |
7: 86,444,368 (GRCm39) |
L7* |
probably null |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTGACAGCCTCTTCCTG -3'
(R):5'- ATTCGTACCTGCAGAGGACTG -3'
Sequencing Primer
(F):5'- CCCTCAATGTCAGTGACTATAGTGAG -3'
(R):5'- GGACTGAAGAGCGTGTGC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation