Incidental Mutation 'R8287:Arsa'
| ID |
638502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arsa
|
| Ensembl Gene |
ENSMUSG00000022620 |
| Gene Name |
arylsulfatase A |
| Synonyms |
ASA, As-2, AS-A, As2 |
| MMRRC Submission |
067709-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
R8287 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
89356679-89361627 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 89357593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 457
(H457N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165199]
|
| AlphaFold |
P50428 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165199
AA Change: H457N
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000127646
Gene: ENSMUSG00000022620
AA Change: H457N
| 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 |
probably benign
Transcript: ENSMUST00000168270
|
| SMART Domains |
Protein: ENSMUSP00000130574
Gene: ENSMUSG00000022620
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfatase
|
1 |
37 |
1e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (27/27) |
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
A |
G |
12: 80,220,852 (GRCm39) |
|
probably null |
Het |
| Apcs |
T |
G |
1: 172,721,814 (GRCm39) |
L177F |
possibly damaging |
Het |
| Atg10 |
A |
T |
13: 91,170,799 (GRCm39) |
|
probably benign |
Het |
| Blnk |
T |
C |
19: 40,917,735 (GRCm39) |
Y419C |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,375,225 (GRCm39) |
D417G |
probably benign |
Het |
| Cntnap4 |
T |
C |
8: 113,585,775 (GRCm39) |
S1133P |
probably damaging |
Het |
| Cops2 |
T |
A |
2: 125,701,037 (GRCm39) |
|
probably benign |
Het |
| Cyp2c40 |
T |
A |
19: 39,755,899 (GRCm39) |
M472L |
probably damaging |
Het |
| Dlg5 |
T |
A |
14: 24,214,453 (GRCm39) |
Q379L |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,534,560 (GRCm39) |
I2019V |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,866,157 (GRCm39) |
Y1241C |
unknown |
Het |
| Dock8 |
T |
C |
19: 25,107,825 (GRCm39) |
Y852H |
probably damaging |
Het |
| Fcrlb |
T |
A |
1: 170,739,653 (GRCm39) |
Y83F |
probably damaging |
Het |
| Foxj2 |
G |
A |
6: 122,805,226 (GRCm39) |
A33T |
possibly damaging |
Het |
| Gcnt2 |
T |
C |
13: 41,014,108 (GRCm39) |
F93S |
probably damaging |
Het |
| Gm14180 |
A |
G |
11: 99,625,068 (GRCm39) |
S17P |
unknown |
Het |
| Gucy1b2 |
T |
C |
14: 62,649,265 (GRCm39) |
Q437R |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,299,430 (GRCm39) |
D707G |
probably benign |
Het |
| Ncam2 |
A |
G |
16: 81,323,883 (GRCm39) |
Q509R |
probably benign |
Het |
| Npsr1 |
T |
C |
9: 24,201,258 (GRCm39) |
V214A |
probably damaging |
Het |
| Or8g51 |
T |
C |
9: 38,609,633 (GRCm39) |
T14A |
probably benign |
Het |
| Slc50a1 |
G |
A |
3: 89,177,710 (GRCm39) |
|
probably null |
Het |
| Speg |
T |
A |
1: 75,398,880 (GRCm39) |
M2109K |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,660,129 (GRCm39) |
H722R |
probably benign |
Het |
| Vmn2r19 |
A |
G |
6: 123,308,588 (GRCm39) |
N555S |
probably damaging |
Het |
| Xrcc1 |
G |
A |
7: 24,271,703 (GRCm39) |
R562H |
probably damaging |
Het |
| Zscan18 |
T |
G |
7: 12,509,298 (GRCm39) |
K67N |
unknown |
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 |
|
|
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 |
|
R8789:Arsa
|
UTSW |
15 |
89,358,260 (GRCm39) |
missense |
probably benign |
|
|
R9152:Arsa
|
UTSW |
15 |
89,359,995 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCACACACTCAGGACAGGG -3'
(R):5'- GCTCATTTCTTCACCCAGGG -3'
Sequencing Primer
(F):5'- TGAAGGACCCCCGTGATTTC -3'
(R):5'- GCCCCTCCTTATGTAAAAAGCTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation