Incidental Mutation 'R6444:Galns'
| ID |
519133 |
| 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 |
044582-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6444 (G1)
|
| Quality Score |
132.008 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
123304981-123338202 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to C
at 123338077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015157]
[ENSMUST00000015171]
[ENSMUST00000127664]
[ENSMUST00000212319]
|
| AlphaFold |
Q571E4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015157
|
| SMART Domains |
Protein: ENSMUSP00000015157
Gene: ENSMUSG00000015013
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sybindin
|
5 |
138 |
3.3e-12 |
PFAM |
|
Pfam:Sedlin_N
|
7 |
137 |
7.3e-38 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000015171
AA Change: M1V
|
| SMART Domains |
Protein: ENSMUSP00000015171
Gene: ENSMUSG00000015027
AA Change: M1V
| 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: ENSMUST00000211904
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212319
AA Change: M1V
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212477
|
| Meta Mutation Damage Score |
0.9533 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
ACAGAGCAGTGCCTACCAG |
ACAG |
5: 138,637,831 (GRCm39) |
|
probably benign |
Het |
| Bcas2 |
T |
A |
3: 103,079,362 (GRCm39) |
|
probably null |
Het |
| Camk1d |
A |
T |
2: 5,317,956 (GRCm39) |
I233N |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,150,785 (GRCm39) |
|
probably null |
Het |
| Cnot2 |
T |
C |
10: 116,335,260 (GRCm39) |
D246G |
probably benign |
Het |
| Cped1 |
A |
C |
6: 21,986,930 (GRCm39) |
I41L |
probably benign |
Het |
| Dcdc2c |
A |
G |
12: 28,585,475 (GRCm39) |
V174A |
probably damaging |
Het |
| Dscam |
G |
A |
16: 96,420,844 (GRCm39) |
R1681C |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,167,822 (GRCm39) |
V1755M |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,075,292 (GRCm39) |
D590N |
probably damaging |
Het |
| Fntb |
A |
G |
12: 76,963,214 (GRCm39) |
Y399C |
probably damaging |
Het |
| Galnt15 |
T |
C |
14: 31,762,368 (GRCm39) |
F199L |
probably damaging |
Het |
| Gm8229 |
A |
T |
14: 44,602,928 (GRCm39) |
H38L |
unknown |
Het |
| Magel2 |
T |
C |
7: 62,029,747 (GRCm39) |
Y884H |
unknown |
Het |
| Miga1 |
A |
T |
3: 151,989,468 (GRCm39) |
V473E |
probably damaging |
Het |
| Mrgprx1 |
C |
T |
7: 47,671,562 (GRCm39) |
V62I |
possibly damaging |
Het |
| Mybl1 |
G |
A |
1: 9,755,917 (GRCm39) |
P211S |
possibly damaging |
Het |
| Myo19 |
A |
G |
11: 84,786,134 (GRCm39) |
H254R |
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,453,017 (GRCm39) |
T6A |
possibly damaging |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Or5b119 |
A |
T |
19: 13,456,794 (GRCm39) |
M256K |
possibly damaging |
Het |
| Or8g20 |
T |
C |
9: 39,395,614 (GRCm39) |
T309A |
probably benign |
Het |
| Psmd12 |
A |
G |
11: 107,377,280 (GRCm39) |
E113G |
possibly damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,195,730 (GRCm39) |
D879G |
possibly damaging |
Het |
| Rufy3 |
A |
G |
5: 88,785,166 (GRCm39) |
Q414R |
probably damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,197,317 (GRCm39) |
I813T |
probably damaging |
Het |
| Smok2a |
G |
T |
17: 13,444,500 (GRCm39) |
A26S |
probably benign |
Het |
| Spsb3 |
T |
A |
17: 25,110,550 (GRCm39) |
L459Q |
probably damaging |
Het |
| Tacc2 |
T |
C |
7: 130,225,142 (GRCm39) |
V609A |
possibly damaging |
Het |
| Tmem185b |
C |
A |
1: 119,454,365 (GRCm39) |
A42E |
probably damaging |
Het |
| Trim56 |
A |
G |
5: 137,141,470 (GRCm39) |
V682A |
probably damaging |
Het |
| Trim75 |
T |
C |
8: 65,435,488 (GRCm39) |
K321E |
possibly damaging |
Het |
| Ttc17 |
A |
C |
2: 94,133,891 (GRCm39) |
M1098R |
possibly damaging |
Het |
| Ydjc |
C |
A |
16: 16,965,545 (GRCm39) |
H136Q |
probably damaging |
Het |
| Zfp568 |
A |
T |
7: 29,716,682 (GRCm39) |
H193L |
probably benign |
Het |
| Znhit1 |
A |
G |
5: 137,011,254 (GRCm39) |
V153A |
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 |
|
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 |
|
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'- AAAGATGTGACACCGGGCTC -3'
(R):5'- ACATCATGTGACCCGATGTG -3'
Sequencing Primer
(F):5'- TCGGGTCACTGCTCATCCG -3'
(R):5'- ATGTGACCCGATGTGGAGGC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation