Incidental Mutation 'R2231:Arsa'
| ID |
240058 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arsa
|
| Ensembl Gene |
ENSMUSG00000022620 |
| Gene Name |
arylsulfatase A |
| Synonyms |
ASA, As-2, AS-A, As2 |
| MMRRC Submission |
040232-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
R2231 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
89356679-89361627 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to C
at 89359925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
| 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 null
Transcript: ENSMUST00000165199
AA Change: M1V
|
| SMART Domains |
Protein: ENSMUSP00000127646
Gene: ENSMUSG00000022620
AA Change: M1V
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr1b |
G |
A |
1: 36,739,440 (GRCm39) |
R336W |
probably damaging |
Het |
| Alkbh6 |
G |
A |
7: 30,012,015 (GRCm39) |
|
probably null |
Het |
| Ankrd63 |
A |
G |
2: 118,533,846 (GRCm39) |
|
probably benign |
Het |
| Cblb |
T |
A |
16: 52,014,635 (GRCm39) |
S895T |
probably benign |
Het |
| Cdk8 |
A |
T |
5: 146,168,414 (GRCm39) |
|
probably benign |
Het |
| Coch |
G |
A |
12: 51,649,648 (GRCm39) |
V320I |
probably benign |
Het |
| Cyp2c68 |
T |
A |
19: 39,687,804 (GRCm39) |
S398C |
probably benign |
Het |
| Cyp2e1 |
T |
C |
7: 140,344,827 (GRCm39) |
S98P |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,408,563 (GRCm39) |
|
probably null |
Het |
| Eif2b5 |
T |
C |
16: 20,323,520 (GRCm39) |
Y424H |
probably benign |
Het |
| Enoph1 |
C |
T |
5: 100,188,136 (GRCm39) |
T20I |
probably damaging |
Het |
| Entpd7 |
T |
C |
19: 43,710,255 (GRCm39) |
V304A |
probably benign |
Het |
| Fam227a |
T |
A |
15: 79,499,582 (GRCm39) |
Y591F |
possibly damaging |
Het |
| Gal3st1 |
T |
C |
11: 3,948,282 (GRCm39) |
I163T |
probably benign |
Het |
| Kif21a |
G |
A |
15: 90,869,565 (GRCm39) |
Q429* |
probably null |
Het |
| L1cam |
T |
A |
X: 72,904,947 (GRCm39) |
N503I |
possibly damaging |
Het |
| Myl3 |
T |
C |
9: 110,596,979 (GRCm39) |
L113P |
probably damaging |
Het |
| Nup153 |
A |
G |
13: 46,863,103 (GRCm39) |
|
probably null |
Het |
| Oaz3 |
T |
C |
3: 94,341,846 (GRCm39) |
T130A |
probably benign |
Het |
| Or4c3d |
A |
T |
2: 89,882,569 (GRCm39) |
F33Y |
probably benign |
Het |
| Or5b12b |
A |
G |
19: 12,861,313 (GRCm39) |
I23V |
probably benign |
Het |
| Pacs2 |
G |
A |
12: 113,026,987 (GRCm39) |
D605N |
probably damaging |
Het |
| Pdk3 |
G |
T |
X: 92,857,604 (GRCm39) |
N59K |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,278,143 (GRCm39) |
C254S |
probably damaging |
Het |
| Plekhd1 |
T |
C |
12: 80,768,725 (GRCm39) |
F403L |
possibly damaging |
Het |
| Pou5f1 |
A |
G |
17: 35,820,959 (GRCm39) |
T134A |
probably benign |
Het |
| Ppp3r1 |
G |
A |
11: 17,143,115 (GRCm39) |
G68R |
probably damaging |
Het |
| Prr5 |
T |
C |
15: 84,586,981 (GRCm39) |
S244P |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,443,378 (GRCm39) |
|
probably null |
Het |
| Sbno1 |
A |
T |
5: 124,543,767 (GRCm39) |
D257E |
probably damaging |
Het |
| Scn10a |
T |
C |
9: 119,462,916 (GRCm39) |
E1040G |
possibly damaging |
Het |
| Sgce |
T |
C |
6: 4,730,066 (GRCm39) |
K53E |
probably benign |
Het |
| Slc6a11 |
A |
G |
6: 114,171,590 (GRCm39) |
T254A |
probably damaging |
Het |
| Spag1 |
A |
G |
15: 36,191,313 (GRCm39) |
Y180C |
probably benign |
Het |
| Ssna1 |
G |
T |
2: 25,162,019 (GRCm39) |
N58K |
possibly damaging |
Het |
| Tbx3 |
C |
A |
5: 119,815,589 (GRCm39) |
N296K |
probably damaging |
Het |
| Tcerg1 |
A |
G |
18: 42,657,309 (GRCm39) |
T264A |
unknown |
Het |
| Trdmt1 |
A |
T |
2: 13,530,436 (GRCm39) |
F82I |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,774,497 (GRCm39) |
F2136L |
probably damaging |
Het |
| Usb1 |
T |
G |
8: 96,070,674 (GRCm39) |
L200R |
probably damaging |
Het |
| Usp33 |
C |
T |
3: 152,079,023 (GRCm39) |
A425V |
probably benign |
Het |
| Zfp92 |
G |
T |
X: 72,466,358 (GRCm39) |
L450F |
possibly damaging |
Het |
| Zw10 |
C |
T |
9: 48,975,421 (GRCm39) |
T282M |
possibly 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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCACATAGAAATCTGTGAACC -3'
(R):5'- TCCGAGTTCTGACAGATTCGC -3'
Sequencing Primer
(F):5'- GTGAACCGTAGTCCACCTTCAG -3'
(R):5'- CAGATTCGCTGGAGCTTCAGAG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation