Incidental Mutation 'R1417:Galns'
ID |
159858 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Galns
|
Ensembl Gene |
ENSMUSG00000015027 |
Gene Name |
galactosamine (N-acetyl)-6-sulfatase |
Synonyms |
N-acetylgalactosamine-6-sulfate sulfatase |
MMRRC Submission |
039473-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1417 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
123304981-123338202 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 123311652 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 453
(S453G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000015171
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015171]
[ENSMUST00000127664]
[ENSMUST00000212319]
|
AlphaFold |
Q571E4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000015171
AA Change: S453G
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000015171 Gene: ENSMUSG00000015027 AA Change: S453G
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: ENSMUST00000211906
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212319
AA Change: S373G
PolyPhen 2
Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 87.8%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp13a5 |
A |
G |
16: 29,117,053 (GRCm39) |
V565A |
probably benign |
Het |
Atp6v1b1 |
T |
C |
6: 83,730,862 (GRCm39) |
S196P |
probably damaging |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Ces1a |
C |
T |
8: 93,749,044 (GRCm39) |
D456N |
probably benign |
Het |
Clu |
T |
A |
14: 66,212,420 (GRCm39) |
Y124* |
probably null |
Het |
Cnnm1 |
A |
G |
19: 43,458,162 (GRCm39) |
E658G |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,846,573 (GRCm39) |
E2913G |
probably damaging |
Het |
Edc4 |
G |
A |
8: 106,614,487 (GRCm39) |
|
probably null |
Het |
Enox1 |
C |
T |
14: 77,723,445 (GRCm39) |
|
probably benign |
Het |
G6pc2 |
T |
C |
2: 69,053,312 (GRCm39) |
V122A |
probably damaging |
Het |
Gm12185 |
A |
C |
11: 48,798,669 (GRCm39) |
V608G |
probably damaging |
Het |
Hbq1a |
A |
G |
11: 32,250,722 (GRCm39) |
D135G |
probably benign |
Het |
Hspg2 |
A |
G |
4: 137,244,947 (GRCm39) |
T891A |
probably benign |
Het |
Ift172 |
T |
C |
5: 31,413,993 (GRCm39) |
Y1445C |
probably damaging |
Het |
Ipo8 |
C |
T |
6: 148,719,550 (GRCm39) |
D132N |
probably benign |
Het |
Klhl11 |
T |
C |
11: 100,363,115 (GRCm39) |
E147G |
probably benign |
Het |
Kmt2d |
A |
T |
15: 98,764,311 (GRCm39) |
V41D |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,894,653 (GRCm39) |
I2306V |
probably benign |
Het |
Lrp5 |
A |
G |
19: 3,636,425 (GRCm39) |
V1514A |
probably benign |
Het |
Lrrtm2 |
A |
T |
18: 35,347,011 (GRCm39) |
I97N |
probably damaging |
Het |
Mtmr3 |
C |
A |
11: 4,437,923 (GRCm39) |
V844L |
probably benign |
Het |
Myh8 |
A |
G |
11: 67,197,011 (GRCm39) |
E1832G |
probably damaging |
Het |
Or4n5 |
T |
A |
14: 50,133,020 (GRCm39) |
R80* |
probably null |
Het |
Pcdhb16 |
A |
G |
18: 37,611,180 (GRCm39) |
T47A |
probably benign |
Het |
Pfkp |
T |
C |
13: 6,655,755 (GRCm39) |
K293E |
probably benign |
Het |
Phlpp2 |
G |
T |
8: 110,667,313 (GRCm39) |
E1281* |
probably null |
Het |
Prss23 |
T |
A |
7: 89,159,392 (GRCm39) |
T226S |
probably damaging |
Het |
Slc8a1 |
T |
G |
17: 81,715,709 (GRCm39) |
M775L |
probably damaging |
Het |
Stx12 |
A |
G |
4: 132,587,853 (GRCm39) |
|
probably null |
Het |
Syt11 |
A |
T |
3: 88,669,289 (GRCm39) |
I201N |
probably damaging |
Het |
Ttc21a |
A |
G |
9: 119,783,327 (GRCm39) |
N543S |
probably damaging |
Het |
Usf3 |
A |
G |
16: 44,037,812 (GRCm39) |
N764S |
probably benign |
Het |
Xylb |
A |
G |
9: 119,193,606 (GRCm39) |
D100G |
probably benign |
Het |
Zfp423 |
T |
C |
8: 88,500,284 (GRCm39) |
|
probably null |
Het |
Zkscan16 |
T |
C |
4: 58,952,377 (GRCm39) |
V225A |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCATTGCTGGGGTTGTCAATGAAC -3'
(R):5'- ATCTCTGCTGCATGGGCTTCTG -3'
Sequencing Primer
(F):5'- GGAGTTAGTAGGCTCTACATCCTC -3'
(R):5'- CTTCTGGGTCCTGGATGCC -3'
|
Posted On |
2014-03-14 |