Incidental Mutation 'IGL02173:Galns'
ID |
282994 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Galns
|
Ensembl Gene |
ENSMUSG00000015027 |
Gene Name |
galactosamine (N-acetyl)-6-sulfatase |
Synonyms |
N-acetylgalactosamine-6-sulfate sulfatase |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02173
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
123304981-123338202 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 123325365 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 262
(S262R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148591
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015171]
[ENSMUST00000127664]
[ENSMUST00000212319]
|
AlphaFold |
Q571E4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000015171
AA Change: S262R
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000015171 Gene: ENSMUSG00000015027 AA Change: S262R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:Sulfatase
|
28 |
353 |
2.3e-91 |
PFAM |
Pfam:Phosphodiest
|
30 |
315 |
2.1e-11 |
PFAM |
Pfam:Sulfatase_C
|
376 |
507 |
2.4e-34 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
SMART Domains |
Protein: ENSMUSP00000118564 Gene: ENSMUSG00000092329
Domain | Start | End | E-Value | Type |
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212207
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212319
AA Change: S262R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
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 N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
A |
T |
10: 87,061,754 (GRCm39) |
H68L |
possibly damaging |
Het |
4930533K18Rik |
A |
G |
10: 70,708,060 (GRCm39) |
|
noncoding transcript |
Het |
4933409G03Rik |
A |
G |
2: 68,443,401 (GRCm39) |
T182A |
unknown |
Het |
Abca2 |
T |
A |
2: 25,331,909 (GRCm39) |
D1340E |
probably benign |
Het |
Abcc12 |
G |
A |
8: 87,293,071 (GRCm39) |
A39V |
probably damaging |
Het |
Acap2 |
T |
C |
16: 30,926,965 (GRCm39) |
R510G |
possibly damaging |
Het |
Ace |
G |
T |
11: 105,879,817 (GRCm39) |
R719L |
probably benign |
Het |
Adarb1 |
A |
C |
10: 77,157,659 (GRCm39) |
F263V |
probably damaging |
Het |
Ahcyl |
T |
C |
16: 45,974,441 (GRCm39) |
N312S |
probably benign |
Het |
Ambra1 |
T |
C |
2: 91,748,013 (GRCm39) |
S1130P |
probably benign |
Het |
Aqp7 |
A |
T |
4: 41,034,379 (GRCm39) |
L260* |
probably null |
Het |
Cntn5 |
G |
T |
9: 9,748,401 (GRCm39) |
S493R |
probably damaging |
Het |
Crhr2 |
A |
G |
6: 55,080,165 (GRCm39) |
F138S |
probably damaging |
Het |
D2hgdh |
T |
A |
1: 93,757,611 (GRCm39) |
D175E |
probably benign |
Het |
Dtx4 |
G |
T |
19: 12,450,621 (GRCm39) |
Y530* |
probably null |
Het |
Elp4 |
T |
A |
2: 105,533,088 (GRCm39) |
H419L |
probably damaging |
Het |
Etv6 |
A |
G |
6: 134,225,690 (GRCm39) |
D218G |
possibly damaging |
Het |
Exoc5 |
A |
G |
14: 49,272,258 (GRCm39) |
|
probably benign |
Het |
Fyb1 |
C |
T |
15: 6,610,176 (GRCm39) |
P250S |
probably benign |
Het |
Gaa |
A |
G |
11: 119,165,739 (GRCm39) |
Y84C |
probably damaging |
Het |
Gfus |
A |
G |
15: 75,798,034 (GRCm39) |
S233P |
probably damaging |
Het |
Kctd16 |
T |
C |
18: 40,663,906 (GRCm39) |
I345T |
probably benign |
Het |
Lats2 |
A |
G |
14: 57,934,717 (GRCm39) |
V671A |
probably damaging |
Het |
Maml3 |
C |
A |
3: 51,598,208 (GRCm39) |
L179F |
probably damaging |
Het |
Myo1f |
T |
C |
17: 33,826,318 (GRCm39) |
L1089P |
probably damaging |
Het |
Nadsyn1 |
A |
T |
7: 143,357,743 (GRCm39) |
|
probably benign |
Het |
Or1e34 |
A |
G |
11: 73,778,949 (GRCm39) |
M83T |
possibly damaging |
Het |
Or51k1 |
G |
A |
7: 103,661,037 (GRCm39) |
P291S |
probably damaging |
Het |
Or7d9 |
T |
C |
9: 20,197,691 (GRCm39) |
V240A |
probably benign |
Het |
Or9i1 |
A |
G |
19: 13,839,378 (GRCm39) |
T74A |
probably benign |
Het |
Otog |
T |
C |
7: 45,926,165 (GRCm39) |
|
probably benign |
Het |
Pcbd1 |
A |
G |
10: 60,927,983 (GRCm39) |
|
probably benign |
Het |
Pced1a |
A |
G |
2: 130,264,248 (GRCm39) |
V164A |
possibly damaging |
Het |
Pgd |
A |
G |
4: 149,241,210 (GRCm39) |
I233T |
probably damaging |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Sec24d |
A |
T |
3: 123,147,330 (GRCm39) |
H733L |
probably damaging |
Het |
Slc1a2 |
T |
A |
2: 102,574,206 (GRCm39) |
N205K |
probably benign |
Het |
Sstr2 |
G |
T |
11: 113,515,842 (GRCm39) |
V254L |
probably damaging |
Het |
Tm9sf2 |
G |
T |
14: 122,380,835 (GRCm39) |
V308F |
probably benign |
Het |
Tor3a |
T |
C |
1: 156,501,776 (GRCm39) |
K34E |
probably benign |
Het |
Ubr4 |
T |
A |
4: 139,164,381 (GRCm39) |
|
probably null |
Het |
Vmn1r56 |
A |
G |
7: 5,199,117 (GRCm39) |
S167P |
probably damaging |
Het |
Zswim3 |
T |
A |
2: 164,662,759 (GRCm39) |
I413N |
probably damaging |
Het |
|
Other mutations in Galns |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02401:Galns
|
APN |
8 |
123,331,938 (GRCm39) |
missense |
probably damaging |
1.00 |
brimstone
|
UTSW |
8 |
123,327,349 (GRCm39) |
missense |
probably damaging |
1.00 |
fiend
|
UTSW |
8 |
123,338,077 (GRCm39) |
start codon destroyed |
probably null |
|
vesuvius
|
UTSW |
8 |
123,326,087 (GRCm39) |
splice site |
probably null |
|
R0001:Galns
|
UTSW |
8 |
123,322,622 (GRCm39) |
splice site |
probably benign |
|
R0018:Galns
|
UTSW |
8 |
123,311,724 (GRCm39) |
missense |
probably benign |
0.09 |
R1417:Galns
|
UTSW |
8 |
123,311,652 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1636:Galns
|
UTSW |
8 |
123,330,955 (GRCm39) |
splice site |
probably benign |
|
R4729:Galns
|
UTSW |
8 |
123,330,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R4851:Galns
|
UTSW |
8 |
123,327,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R4891:Galns
|
UTSW |
8 |
123,325,895 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5218:Galns
|
UTSW |
8 |
123,325,328 (GRCm39) |
missense |
probably damaging |
0.99 |
R5532:Galns
|
UTSW |
8 |
123,311,765 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6323:Galns
|
UTSW |
8 |
123,325,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R6444:Galns
|
UTSW |
8 |
123,338,077 (GRCm39) |
start codon destroyed |
probably null |
|
R6495:Galns
|
UTSW |
8 |
123,327,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R7215:Galns
|
UTSW |
8 |
123,326,087 (GRCm39) |
splice site |
probably null |
|
R7608:Galns
|
UTSW |
8 |
123,318,184 (GRCm39) |
missense |
probably benign |
0.06 |
R7612:Galns
|
UTSW |
8 |
123,311,693 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9568:Galns
|
UTSW |
8 |
123,311,649 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Galns
|
UTSW |
8 |
123,331,945 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Galns
|
UTSW |
8 |
123,325,262 (GRCm39) |
missense |
probably benign |
0.11 |
|
Posted On |
2015-04-16 |