Incidental Mutation 'R5099:Arsa'
| ID |
388190 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arsa
|
| Ensembl Gene |
ENSMUSG00000022620 |
| Gene Name |
arylsulfatase A |
| Synonyms |
ASA, As-2, AS-A, As2 |
| MMRRC Submission |
042688-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
R5099 (G1)
|
| Quality Score |
218 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
89356679-89361627 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89359542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 80
(L80P)
|
| 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: L80P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127646
Gene: ENSMUSG00000022620
AA Change: L80P
| 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
|
| Meta Mutation Damage Score |
0.2748 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
98% (41/42) |
| 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 |
|---|
| Bdkrb1 |
A |
G |
12: 105,570,533 (GRCm39) |
D33G |
probably benign |
Het |
| Ccdc178 |
A |
T |
18: 22,238,648 (GRCm39) |
V323E |
probably benign |
Het |
| Ceacam5 |
T |
C |
7: 17,479,513 (GRCm39) |
V210A |
probably damaging |
Het |
| Dcdc2a |
A |
G |
13: 25,291,681 (GRCm39) |
E222G |
probably benign |
Het |
| Gbp9 |
A |
T |
5: 105,242,379 (GRCm39) |
L120Q |
probably damaging |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gsr |
T |
A |
8: 34,161,556 (GRCm39) |
I121N |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,309,674 (GRCm39) |
M1068K |
probably damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,701,173 (GRCm39) |
I414T |
probably benign |
Het |
| Lpin2 |
G |
A |
17: 71,550,965 (GRCm39) |
W708* |
probably null |
Het |
| Mecom |
A |
G |
3: 30,039,465 (GRCm39) |
|
probably benign |
Het |
| Mff |
C |
T |
1: 82,728,192 (GRCm39) |
|
probably benign |
Het |
| Ms4a20 |
T |
C |
19: 11,089,825 (GRCm39) |
|
probably null |
Het |
| Neb |
C |
T |
2: 52,085,460 (GRCm39) |
C1545Y |
probably damaging |
Het |
| Or5ac24 |
C |
T |
16: 59,165,266 (GRCm39) |
G266D |
probably benign |
Het |
| Or5p5 |
A |
G |
7: 107,413,809 (GRCm39) |
H6R |
probably benign |
Het |
| Or8k36-ps1 |
A |
T |
2: 86,437,560 (GRCm39) |
N118K |
unknown |
Het |
| Ppm1n |
A |
T |
7: 19,011,903 (GRCm39) |
L392Q |
possibly damaging |
Het |
| Prr22 |
T |
C |
17: 57,078,467 (GRCm39) |
F207L |
probably benign |
Het |
| Ptprv |
T |
C |
1: 135,046,592 (GRCm39) |
|
noncoding transcript |
Het |
| Rin2 |
G |
A |
2: 145,720,821 (GRCm39) |
C718Y |
probably damaging |
Het |
| Rpgrip1l |
G |
A |
8: 91,975,350 (GRCm39) |
T1089I |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,108,145 (GRCm39) |
V1510A |
probably damaging |
Het |
| Slfn3 |
A |
T |
11: 83,105,764 (GRCm39) |
Y587F |
probably damaging |
Het |
| Sp2 |
T |
C |
11: 96,852,175 (GRCm39) |
K250E |
probably damaging |
Het |
| Ssu2 |
A |
G |
6: 112,336,585 (GRCm39) |
S333P |
probably benign |
Het |
| Strbp |
T |
C |
2: 37,493,030 (GRCm39) |
T419A |
probably damaging |
Het |
| Tada2b |
A |
T |
5: 36,633,744 (GRCm39) |
M203K |
probably benign |
Het |
| Tmem176b |
T |
C |
6: 48,811,463 (GRCm39) |
Y62C |
probably benign |
Het |
| Tox |
G |
T |
4: 6,688,958 (GRCm39) |
Q469K |
probably benign |
Het |
| Trgv5 |
G |
T |
13: 19,376,886 (GRCm39) |
C111F |
probably damaging |
Het |
| Tyw5 |
T |
C |
1: 57,427,864 (GRCm39) |
N243D |
probably damaging |
Het |
| Ube2q2 |
T |
A |
9: 55,113,307 (GRCm39) |
|
probably benign |
Het |
| Ufl1 |
C |
T |
4: 25,275,914 (GRCm39) |
R83Q |
probably damaging |
Het |
| Unk |
A |
G |
11: 115,949,936 (GRCm39) |
Q701R |
probably benign |
Het |
| Vmn1r60 |
A |
T |
7: 5,547,816 (GRCm39) |
C95S |
probably damaging |
Het |
| Vmn1r81 |
A |
G |
7: 11,994,248 (GRCm39) |
I120T |
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 |
|
R2231:Arsa
|
UTSW |
15 |
89,359,925 (GRCm39) |
start codon destroyed |
probably null |
|
|
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'- AATCGGTGGAAGCCCTGATG -3'
(R):5'- GGTTCACAGATTTCTATGTGCCTG -3'
Sequencing Primer
(F):5'- CCTGATGCGGGGGCAGG -3'
(R):5'- GCCTGTGTCTCTGTGCACG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation