Incidental Mutation 'R4582:Naglu'
| ID |
343746 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Naglu
|
| Ensembl Gene |
ENSMUSG00000001751 |
| Gene Name |
alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB) |
| Synonyms |
|
| MMRRC Submission |
041803-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4582 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100960859-100968498 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100962755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 187
(I187F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001802]
|
| AlphaFold |
O88325 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001802
AA Change: I187F
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000001802
Gene: ENSMUSG00000001751
AA Change: I187F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:NAGLU_N
|
28 |
114 |
4.8e-24 |
PFAM |
|
Pfam:NAGLU
|
128 |
463 |
8.2e-150 |
PFAM |
|
Pfam:NAGLU_C
|
471 |
731 |
4.5e-85 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138409
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140735
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced open field activity, massive accumulation of heparan sulfate in kidney and liver, elevated gangliosides in brain, and presence of vacuoles in macrophages, epithelial cells, and neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abra |
A |
T |
15: 41,732,681 (GRCm39) |
D128E |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,749,369 (GRCm39) |
V1006E |
possibly damaging |
Het |
| Ankrd7 |
T |
A |
6: 18,868,020 (GRCm39) |
N95K |
probably damaging |
Het |
| Brd9 |
T |
C |
13: 74,095,852 (GRCm39) |
F366L |
probably benign |
Het |
| Brinp2 |
A |
G |
1: 158,095,508 (GRCm39) |
F118L |
probably damaging |
Het |
| Ccdc138 |
T |
C |
10: 58,343,465 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,722,922 (GRCm39) |
F189L |
probably damaging |
Het |
| Cfap45 |
A |
G |
1: 172,357,479 (GRCm39) |
T36A |
probably benign |
Het |
| Clec4a1 |
G |
T |
6: 122,909,150 (GRCm39) |
V173L |
possibly damaging |
Het |
| Col6a5 |
G |
A |
9: 105,739,963 (GRCm39) |
T2552I |
probably benign |
Het |
| Dcaf15 |
A |
G |
8: 84,824,598 (GRCm39) |
V533A |
probably damaging |
Het |
| Dhrs9 |
A |
T |
2: 69,227,997 (GRCm39) |
I204F |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,892,153 (GRCm39) |
V811A |
possibly damaging |
Het |
| Eef1akmt1 |
T |
C |
14: 57,787,905 (GRCm39) |
D151G |
probably damaging |
Het |
| Eif4g3 |
G |
A |
4: 137,898,556 (GRCm39) |
R1109H |
probably damaging |
Het |
| Gtpbp10 |
T |
C |
5: 5,592,395 (GRCm39) |
T191A |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,424,482 (GRCm39) |
N714S |
possibly damaging |
Het |
| Lima1 |
T |
C |
15: 99,678,873 (GRCm39) |
T523A |
possibly damaging |
Het |
| Lipe |
A |
G |
7: 25,097,127 (GRCm39) |
L272P |
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,741,532 (GRCm39) |
E554G |
possibly damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,765,580 (GRCm39) |
S488G |
possibly damaging |
Het |
| Man2a1 |
C |
T |
17: 65,059,494 (GRCm39) |
A1127V |
probably benign |
Het |
| Nt5c1b |
T |
A |
12: 10,440,054 (GRCm39) |
M548K |
probably damaging |
Het |
| Or10ak14 |
A |
T |
4: 118,611,090 (GRCm39) |
I217N |
probably damaging |
Het |
| Or6c38 |
A |
T |
10: 128,929,027 (GRCm39) |
V272E |
possibly damaging |
Het |
| Pcdha3 |
T |
C |
18: 37,080,485 (GRCm39) |
V409A |
probably benign |
Het |
| Pde6b |
A |
T |
5: 108,573,097 (GRCm39) |
|
probably null |
Het |
| Pkd2 |
A |
T |
5: 104,650,210 (GRCm39) |
K857* |
probably null |
Het |
| Rfx4 |
T |
A |
10: 84,680,164 (GRCm39) |
S114T |
possibly damaging |
Het |
| Sacs |
G |
A |
14: 61,429,147 (GRCm39) |
G402D |
probably damaging |
Het |
| Slc22a5 |
C |
T |
11: 53,782,035 (GRCm39) |
E111K |
probably damaging |
Het |
| Sptbn1 |
G |
A |
11: 30,169,597 (GRCm39) |
R44C |
probably damaging |
Het |
| Taf1 |
T |
C |
X: 100,637,601 (GRCm39) |
V1696A |
possibly damaging |
Het |
| Tm9sf3 |
C |
A |
19: 41,244,605 (GRCm39) |
G91C |
probably damaging |
Het |
| Tmie |
T |
G |
9: 110,702,865 (GRCm39) |
E32A |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Tsga13 |
A |
T |
6: 30,879,298 (GRCm39) |
N138K |
probably benign |
Het |
| Ttc7b |
G |
A |
12: 100,466,376 (GRCm39) |
R79C |
probably damaging |
Het |
| Ugt1a10 |
A |
T |
1: 87,983,463 (GRCm39) |
D87V |
possibly damaging |
Het |
| Vdac3-ps1 |
A |
T |
13: 18,206,177 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn1r29 |
A |
C |
6: 58,285,017 (GRCm39) |
I246L |
probably damaging |
Het |
| Zbtb16 |
A |
G |
9: 48,743,382 (GRCm39) |
V310A |
probably benign |
Het |
|
| Other mutations in Naglu |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00845:Naglu
|
APN |
11 |
100,967,778 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01025:Naglu
|
APN |
11 |
100,964,773 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01775:Naglu
|
APN |
11 |
100,964,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ingest
|
UTSW |
11 |
100,962,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
tragar
|
UTSW |
11 |
100,963,056 (GRCm39) |
missense |
probably benign |
0.10 |
|
tulane
|
UTSW |
11 |
100,961,158 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0044:Naglu
|
UTSW |
11 |
100,962,043 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0281:Naglu
|
UTSW |
11 |
100,964,853 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0395:Naglu
|
UTSW |
11 |
100,964,933 (GRCm39) |
unclassified |
probably benign |
|
|
R1624:Naglu
|
UTSW |
11 |
100,967,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1739:Naglu
|
UTSW |
11 |
100,967,229 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2092:Naglu
|
UTSW |
11 |
100,967,546 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4118:Naglu
|
UTSW |
11 |
100,964,908 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4792:Naglu
|
UTSW |
11 |
100,961,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4834:Naglu
|
UTSW |
11 |
100,967,814 (GRCm39) |
missense |
probably benign |
|
|
R5232:Naglu
|
UTSW |
11 |
100,960,976 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5387:Naglu
|
UTSW |
11 |
100,967,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6463:Naglu
|
UTSW |
11 |
100,968,177 (GRCm39) |
splice site |
probably null |
|
|
R6483:Naglu
|
UTSW |
11 |
100,962,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7141:Naglu
|
UTSW |
11 |
100,963,056 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7187:Naglu
|
UTSW |
11 |
100,961,158 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7232:Naglu
|
UTSW |
11 |
100,967,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7478:Naglu
|
UTSW |
11 |
100,962,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7828:Naglu
|
UTSW |
11 |
100,967,436 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7829:Naglu
|
UTSW |
11 |
100,967,436 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8512:Naglu
|
UTSW |
11 |
100,961,168 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9131:Naglu
|
UTSW |
11 |
100,967,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9145:Naglu
|
UTSW |
11 |
100,961,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0023:Naglu
|
UTSW |
11 |
100,962,840 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCTCTTTGTGTCCCAG -3'
(R):5'- TAGCTAAGCACCCATCCCTG -3'
Sequencing Primer
(F):5'- ACAGACATGGAGCTGTTTCC -3'
(R):5'- TGGCTCTGTGAACACTCAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation