Incidental Mutation 'IGL02401:Galns'
| ID |
291893 |
| 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 # |
IGL02401
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
123304981-123338202 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123331938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 59
(M59T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015171]
[ENSMUST00000127664]
[ENSMUST00000212319]
|
| AlphaFold |
Q571E4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015171
AA Change: M59T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000015171
Gene: ENSMUSG00000015027
AA Change: M59T
| 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 |
probably damaging
Transcript: ENSMUST00000212319
AA Change: M59T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef18 |
C |
T |
8: 3,487,078 (GRCm39) |
R266C |
probably damaging |
Het |
| Asb11 |
A |
T |
X: 163,241,753 (GRCm39) |
|
probably benign |
Het |
| Cnot1 |
G |
A |
8: 96,482,761 (GRCm39) |
T764M |
possibly damaging |
Het |
| Gm5884 |
A |
G |
6: 128,622,377 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9312 |
A |
C |
12: 24,302,106 (GRCm39) |
|
noncoding transcript |
Het |
| Lama3 |
T |
C |
18: 12,690,784 (GRCm39) |
F1268S |
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,643,585 (GRCm39) |
C1347R |
probably damaging |
Het |
| Lrrfip1 |
T |
C |
1: 91,042,650 (GRCm39) |
S352P |
probably benign |
Het |
| Mcfd2 |
T |
C |
17: 87,564,592 (GRCm39) |
T97A |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,929,983 (GRCm39) |
N23S |
possibly damaging |
Het |
| Nr1i3 |
A |
T |
1: 171,043,942 (GRCm39) |
|
probably benign |
Het |
| Or4c10b |
T |
C |
2: 89,711,797 (GRCm39) |
F209S |
probably damaging |
Het |
| Or8b48 |
C |
T |
9: 38,492,651 (GRCm39) |
P26L |
probably damaging |
Het |
| Orm2 |
A |
C |
4: 63,281,568 (GRCm39) |
I100L |
probably benign |
Het |
| Pbsn |
A |
G |
X: 76,886,129 (GRCm39) |
M126T |
probably benign |
Het |
| Rpgr |
G |
T |
X: 10,024,956 (GRCm39) |
T1026K |
possibly damaging |
Het |
| Sdhaf3 |
C |
T |
6: 7,038,855 (GRCm39) |
T59M |
probably benign |
Het |
| Shq1 |
T |
C |
6: 100,625,208 (GRCm39) |
Y217C |
probably damaging |
Het |
| Slc17a8 |
A |
T |
10: 89,412,522 (GRCm39) |
|
probably null |
Het |
| Slc6a19 |
A |
G |
13: 73,848,709 (GRCm39) |
I15T |
probably damaging |
Het |
| Smarcd3 |
A |
T |
5: 24,798,717 (GRCm39) |
V335E |
probably damaging |
Het |
| Sugp2 |
A |
G |
8: 70,695,821 (GRCm39) |
T265A |
possibly damaging |
Het |
| Tfrc |
T |
G |
16: 32,435,999 (GRCm39) |
S225R |
probably damaging |
Het |
| Vsig10l |
T |
A |
7: 43,113,468 (GRCm39) |
L140Q |
probably damaging |
Het |
| Zbtb46 |
T |
A |
2: 181,065,245 (GRCm39) |
T302S |
probably benign |
Het |
| Znhit1 |
T |
C |
5: 137,011,513 (GRCm39) |
Y105C |
probably damaging |
Het |
|
| Other mutations in Galns |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02173:Galns
|
APN |
8 |
123,325,365 (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 |
Incidental Mutation