Incidental Mutation 'IGL02079:Arsa'
ID |
186073 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Arsa
|
Ensembl Gene |
ENSMUSG00000022620 |
Gene Name |
arylsulfatase A |
Synonyms |
ASA, As-2, AS-A, As2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.201)
|
Stock # |
IGL02079
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
89356679-89361627 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89357554 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 470
(T470A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127646
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165199]
|
AlphaFold |
P50428 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000023292
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136218
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165199
AA Change: T470A
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000127646 Gene: ENSMUSG00000022620 AA Change: T470A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Pfam:Sulfatase
|
20 |
345 |
4.2e-79 |
PFAM |
Pfam:Sulfatase_C
|
367 |
501 |
1.9e-29 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166953
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168052
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168270
|
SMART Domains |
Protein: ENSMUSP00000130574 Gene: ENSMUSG00000022620
Domain | Start | End | E-Value | Type |
Pfam:Sulfatase
|
1 |
37 |
1e-8 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168835
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010] PHENOTYPE: Homozygous mice exhibit impaired balance and spatial learning ability. Sulfatide accumulates in the white matter of the brain and a reduced myelin sheath thickness in the corpus callosum and optic nerves is seen. A low frequency of head tremor develops after 2 years of age. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl1 |
T |
C |
2: 31,579,960 (GRCm39) |
|
probably benign |
Het |
Ago4 |
A |
T |
4: 126,410,877 (GRCm39) |
M204K |
probably damaging |
Het |
Alms1 |
T |
C |
6: 85,605,616 (GRCm39) |
V2422A |
probably damaging |
Het |
Ap5z1 |
T |
C |
5: 142,462,868 (GRCm39) |
|
probably null |
Het |
Bri3bp |
T |
C |
5: 125,531,753 (GRCm39) |
V233A |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Elapor1 |
T |
A |
3: 108,388,675 (GRCm39) |
N236I |
possibly damaging |
Het |
Ephb6 |
T |
A |
6: 41,592,948 (GRCm39) |
D395E |
possibly damaging |
Het |
Flt1 |
T |
A |
5: 147,505,641 (GRCm39) |
|
probably benign |
Het |
Fry |
A |
T |
5: 150,323,089 (GRCm39) |
N1080I |
probably damaging |
Het |
Gdpgp1 |
T |
A |
7: 79,888,768 (GRCm39) |
D266E |
probably benign |
Het |
Gspt1 |
A |
G |
16: 11,058,693 (GRCm39) |
S123P |
probably benign |
Het |
Kctd17 |
T |
C |
15: 78,314,356 (GRCm39) |
|
probably benign |
Het |
Lamb2 |
T |
A |
9: 108,359,312 (GRCm39) |
C313S |
probably damaging |
Het |
Lcor |
T |
A |
19: 41,544,126 (GRCm39) |
S106R |
probably benign |
Het |
Lgr5 |
A |
C |
10: 115,288,099 (GRCm39) |
S776R |
probably damaging |
Het |
Mettl16 |
T |
G |
11: 74,708,450 (GRCm39) |
C510G |
probably damaging |
Het |
Mlip |
T |
C |
9: 77,146,811 (GRCm39) |
T101A |
possibly damaging |
Het |
Myh6 |
A |
T |
14: 55,187,998 (GRCm39) |
L1152Q |
probably damaging |
Het |
Mylk |
G |
A |
16: 34,681,001 (GRCm39) |
R87H |
possibly damaging |
Het |
Npepl1 |
C |
T |
2: 173,961,183 (GRCm39) |
|
probably benign |
Het |
Nrxn1 |
A |
T |
17: 90,950,511 (GRCm39) |
M548K |
probably damaging |
Het |
Or10a48 |
T |
A |
7: 108,425,143 (GRCm39) |
E21V |
probably damaging |
Het |
Or4c11c |
T |
A |
2: 88,661,991 (GRCm39) |
C177S |
probably damaging |
Het |
Pate3 |
T |
A |
9: 35,557,449 (GRCm39) |
Q69L |
probably damaging |
Het |
Piwil1 |
T |
C |
5: 128,819,067 (GRCm39) |
V192A |
possibly damaging |
Het |
Plcxd2 |
A |
T |
16: 45,792,706 (GRCm39) |
I211N |
probably benign |
Het |
Plekhg3 |
T |
A |
12: 76,607,203 (GRCm39) |
Y88N |
probably benign |
Het |
Rabgap1l |
C |
T |
1: 160,566,540 (GRCm39) |
C58Y |
probably benign |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Rusc2 |
A |
G |
4: 43,425,668 (GRCm39) |
S1258G |
probably benign |
Het |
Scn1a |
T |
C |
2: 66,153,704 (GRCm39) |
R710G |
probably benign |
Het |
Wwc1 |
A |
G |
11: 35,766,885 (GRCm39) |
S457P |
probably damaging |
Het |
Xdh |
C |
T |
17: 74,198,272 (GRCm39) |
G1205D |
probably damaging |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
Zfp592 |
T |
C |
7: 80,688,978 (GRCm39) |
S1080P |
probably benign |
Het |
|
Other mutations in Arsa |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02381:Arsa
|
APN |
15 |
89,359,740 (GRCm39) |
nonsense |
probably null |
|
IGL02416:Arsa
|
APN |
15 |
89,358,991 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02997:Arsa
|
APN |
15 |
89,358,241 (GRCm39) |
missense |
probably damaging |
0.99 |
R0066:Arsa
|
UTSW |
15 |
89,358,539 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0066:Arsa
|
UTSW |
15 |
89,358,539 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0630:Arsa
|
UTSW |
15 |
89,358,207 (GRCm39) |
splice site |
probably benign |
|
R1052:Arsa
|
UTSW |
15 |
89,359,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R1079:Arsa
|
UTSW |
15 |
89,358,428 (GRCm39) |
splice site |
probably benign |
|
R1807:Arsa
|
UTSW |
15 |
89,359,525 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1943:Arsa
|
UTSW |
15 |
89,357,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R2231:Arsa
|
UTSW |
15 |
89,359,925 (GRCm39) |
start codon destroyed |
probably null |
|
R5099:Arsa
|
UTSW |
15 |
89,359,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R5461:Arsa
|
UTSW |
15 |
89,357,478 (GRCm39) |
missense |
probably benign |
|
R6259:Arsa
|
UTSW |
15 |
89,359,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R7159:Arsa
|
UTSW |
15 |
89,358,921 (GRCm39) |
splice site |
probably null |
|
R7188:Arsa
|
UTSW |
15 |
89,359,830 (GRCm39) |
nonsense |
probably null |
|
R7735:Arsa
|
UTSW |
15 |
89,359,152 (GRCm39) |
nonsense |
probably null |
|
R7943:Arsa
|
UTSW |
15 |
89,358,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R8127:Arsa
|
UTSW |
15 |
89,359,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R8287:Arsa
|
UTSW |
15 |
89,357,593 (GRCm39) |
missense |
probably benign |
0.23 |
R8789:Arsa
|
UTSW |
15 |
89,358,260 (GRCm39) |
missense |
probably benign |
|
R9152:Arsa
|
UTSW |
15 |
89,359,995 (GRCm39) |
unclassified |
probably benign |
|
|
Posted On |
2014-05-07 |