Incidental Mutation 'R5532:Galns'
| ID |
436224 |
| 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 |
043090-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5532 (G1)
|
| Quality Score |
180 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
123304981-123338202 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 123311765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 415
(D415G)
|
| 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: D415G
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000015171
Gene: ENSMUSG00000015027
AA Change: D415G
| 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: D335G
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,530,293 (GRCm39) |
|
probably null |
Het |
| Adsl |
C |
G |
15: 80,848,110 (GRCm39) |
P118A |
probably damaging |
Het |
| Ano6 |
C |
T |
15: 95,860,122 (GRCm39) |
P748L |
probably damaging |
Het |
| Arhgap10 |
A |
T |
8: 78,146,701 (GRCm39) |
N234K |
probably benign |
Het |
| Arhgap18 |
T |
A |
10: 26,722,104 (GRCm39) |
I25K |
possibly damaging |
Het |
| AW551984 |
T |
C |
9: 39,508,481 (GRCm39) |
Y345C |
probably damaging |
Het |
| Ccdc146 |
A |
G |
5: 21,510,329 (GRCm39) |
V561A |
probably benign |
Het |
| Cenpv |
G |
A |
11: 62,418,398 (GRCm39) |
T185M |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,153,163 (GRCm39) |
D3683V |
probably damaging |
Het |
| Gatad2a |
G |
A |
8: 70,369,070 (GRCm39) |
T259M |
probably damaging |
Het |
| Gja8 |
T |
C |
3: 96,827,648 (GRCm39) |
S5G |
probably benign |
Het |
| Ifi209 |
T |
C |
1: 173,466,542 (GRCm39) |
S125P |
probably damaging |
Het |
| Iigp1c |
A |
G |
18: 60,379,142 (GRCm39) |
I226V |
probably benign |
Het |
| Il12rb2 |
G |
A |
6: 67,269,246 (GRCm39) |
R856W |
probably damaging |
Het |
| Kcnq3 |
A |
T |
15: 65,869,622 (GRCm39) |
Y605* |
probably null |
Het |
| Klk1b16 |
T |
C |
7: 43,790,950 (GRCm39) |
S251P |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,453,779 (GRCm39) |
N890D |
probably damaging |
Het |
| Map4 |
T |
A |
9: 109,863,746 (GRCm39) |
S324T |
probably benign |
Het |
| Mmp28 |
T |
C |
11: 83,333,684 (GRCm39) |
D419G |
probably damaging |
Het |
| Mtnr1b |
A |
G |
9: 15,774,210 (GRCm39) |
L283P |
probably benign |
Het |
| Ndufb7 |
T |
A |
8: 84,298,063 (GRCm39) |
Y95N |
probably damaging |
Het |
| Nfrkb |
C |
T |
9: 31,309,075 (GRCm39) |
R280W |
probably damaging |
Het |
| Npc1l1 |
A |
G |
11: 6,174,245 (GRCm39) |
Y687H |
probably damaging |
Het |
| Or6f1 |
A |
C |
7: 85,970,879 (GRCm39) |
F94V |
possibly damaging |
Het |
| Or8b40 |
C |
T |
9: 38,027,923 (GRCm39) |
T277I |
probably benign |
Het |
| Or8g51 |
T |
C |
9: 38,608,943 (GRCm39) |
T240A |
probably damaging |
Het |
| Or8h9 |
T |
A |
2: 86,788,924 (GRCm39) |
R293* |
probably null |
Het |
| Pabpc4l |
T |
C |
3: 46,401,044 (GRCm39) |
D200G |
probably benign |
Het |
| Plekhg6 |
T |
C |
6: 125,349,514 (GRCm39) |
E361G |
possibly damaging |
Het |
| Pramel31 |
A |
T |
4: 144,090,061 (GRCm39) |
D367V |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,819,046 (GRCm39) |
Y1423C |
probably damaging |
Het |
| Rsf1 |
G |
A |
7: 97,329,902 (GRCm39) |
D1143N |
probably damaging |
Het |
| Spsb4 |
C |
T |
9: 96,877,627 (GRCm39) |
|
probably null |
Het |
| Strada |
G |
T |
11: 106,061,843 (GRCm39) |
A136E |
probably damaging |
Het |
| Syce2 |
A |
T |
8: 85,610,131 (GRCm39) |
Q73L |
probably damaging |
Het |
| Teddm2 |
A |
T |
1: 153,726,130 (GRCm39) |
V195D |
probably benign |
Het |
| Tex36 |
A |
T |
7: 133,203,712 (GRCm39) |
N12K |
probably benign |
Het |
| Ubtf |
A |
G |
11: 102,199,785 (GRCm39) |
S484P |
probably benign |
Het |
| Ufd1 |
T |
G |
16: 18,636,680 (GRCm39) |
L66R |
probably damaging |
Het |
| Vmn2r74 |
C |
T |
7: 85,601,197 (GRCm39) |
A814T |
probably benign |
Het |
| Vmn2r98 |
T |
C |
17: 19,287,645 (GRCm39) |
S493P |
possibly damaging |
Het |
| Xrcc1 |
T |
A |
7: 24,267,353 (GRCm39) |
|
probably null |
Het |
| Zfp277 |
A |
C |
12: 40,385,308 (GRCm39) |
C305G |
probably damaging |
Het |
| Zfp998 |
A |
T |
13: 66,579,740 (GRCm39) |
C248S |
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 |
|
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 |
|
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'- AGACGTGGTTCTCACCTTTG -3'
(R):5'- CCCAGAGACAGATGCTAAGCAG -3'
Sequencing Primer
(F):5'- GTGGTTCTCACCTTTGGCCTG -3'
(R):5'- GATGCTAAGCAGTTCCTCCTGAAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation