Incidental Mutation 'IGL02416:Arsa'
| ID |
292446 |
| 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: 0.198)
|
| Stock # |
IGL02416
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
89356679-89361627 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 89358991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 225
(H225L)
|
| 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 damaging
Transcript: ENSMUST00000165199
AA Change: H225L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127646
Gene: ENSMUSG00000022620
AA Change: H225L
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
T |
C |
14: 68,810,282 (GRCm39) |
N227S |
probably null |
Het |
| Adgrf5 |
T |
G |
17: 43,755,871 (GRCm39) |
|
probably null |
Het |
| Arid2 |
G |
A |
15: 96,247,936 (GRCm39) |
G116D |
possibly damaging |
Het |
| Atf6 |
T |
A |
1: 170,574,726 (GRCm39) |
K571* |
probably null |
Het |
| Bicdl1 |
A |
C |
5: 115,801,944 (GRCm39) |
L38R |
probably damaging |
Het |
| Cct4 |
T |
C |
11: 22,952,868 (GRCm39) |
S515P |
probably damaging |
Het |
| Celsr3 |
A |
C |
9: 108,709,318 (GRCm39) |
D1388A |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,790,777 (GRCm39) |
T432A |
probably benign |
Het |
| Des |
T |
A |
1: 75,339,372 (GRCm39) |
|
probably null |
Het |
| Dock11 |
T |
A |
X: 35,283,739 (GRCm39) |
V1119E |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,169,896 (GRCm39) |
N1763S |
possibly damaging |
Het |
| Emilin1 |
A |
G |
5: 31,075,132 (GRCm39) |
S458G |
possibly damaging |
Het |
| Fhdc1 |
T |
G |
3: 84,352,535 (GRCm39) |
M897L |
probably benign |
Het |
| Foxj1 |
T |
C |
11: 116,222,829 (GRCm39) |
S325G |
probably benign |
Het |
| Gm5407 |
A |
G |
16: 49,117,250 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6576 |
T |
C |
15: 27,026,073 (GRCm39) |
|
noncoding transcript |
Het |
| Hells |
G |
A |
19: 38,953,071 (GRCm39) |
S743N |
probably benign |
Het |
| Ighv2-9-1 |
A |
T |
12: 113,733,731 (GRCm39) |
L30Q |
probably damaging |
Het |
| Iqgap1 |
A |
T |
7: 80,375,786 (GRCm39) |
L1363H |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,299,977 (GRCm39) |
D3025G |
probably damaging |
Het |
| Mef2d |
C |
T |
3: 88,063,809 (GRCm39) |
R79C |
probably damaging |
Het |
| Mical1 |
G |
T |
10: 41,360,806 (GRCm39) |
|
probably null |
Het |
| Micu2 |
A |
T |
14: 58,161,422 (GRCm39) |
V300E |
probably damaging |
Het |
| Mmgt2 |
T |
C |
11: 62,555,703 (GRCm39) |
L17P |
probably damaging |
Het |
| Or4p21 |
A |
G |
2: 88,277,174 (GRCm39) |
I36T |
probably benign |
Het |
| Or7c19 |
T |
A |
8: 85,957,662 (GRCm39) |
C179* |
probably null |
Het |
| Or7e177 |
A |
T |
9: 20,211,541 (GRCm39) |
E15V |
probably benign |
Het |
| Pigb |
A |
G |
9: 72,924,714 (GRCm39) |
S482P |
probably benign |
Het |
| Pkd1l2 |
T |
A |
8: 117,767,574 (GRCm39) |
T1239S |
possibly damaging |
Het |
| Pou1f1 |
T |
C |
16: 65,328,842 (GRCm39) |
I187T |
probably damaging |
Het |
| Prox1 |
C |
T |
1: 189,893,327 (GRCm39) |
A373T |
probably benign |
Het |
| Rabgap1 |
T |
C |
2: 37,451,962 (GRCm39) |
I954T |
probably benign |
Het |
| Scube3 |
T |
G |
17: 28,383,110 (GRCm39) |
C429W |
probably damaging |
Het |
| Slco6b1 |
T |
A |
1: 96,852,058 (GRCm39) |
|
noncoding transcript |
Het |
| Strc |
A |
T |
2: 121,199,539 (GRCm39) |
I1300N |
probably damaging |
Het |
| Tdrd6 |
T |
A |
17: 43,935,629 (GRCm39) |
R1806S |
probably benign |
Het |
| Trpm8 |
T |
A |
1: 88,288,438 (GRCm39) |
L860Q |
probably damaging |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,605 (GRCm39) |
R219G |
probably damaging |
Het |
| Wdr48 |
A |
G |
9: 119,753,826 (GRCm39) |
S649G |
probably damaging |
Het |
|
| Other mutations in Arsa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02079:Arsa
|
APN |
15 |
89,357,554 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02381:Arsa
|
APN |
15 |
89,359,740 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2015-04-16 |
Incidental Mutation