Incidental Mutation 'IGL01560:Arsb'
| ID |
90822 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arsb
|
| Ensembl Gene |
ENSMUSG00000042082 |
| Gene Name |
arylsulfatase B |
| Synonyms |
As-1r, As1-s, As-1s, 1110007C02Rik, Asr-1, Ast-1, As1-r, As1-t, As1, As-1t, As-1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.264)
|
| Stock # |
IGL01560
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
93908187-94079524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93944106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 266
(I266V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091403]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091403
AA Change: I266V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000088964
Gene: ENSMUSG00000042082
AA Change: I266V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
Pfam:Sulfatase
|
46 |
364 |
1.7e-78 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220652
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targeted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2016]
PHENOTYPE: Homozygous mutation of this gene results in development of shortened limbs and snout and a broadened head after 4 weeks of age. Mutant animals have elevated concentrations of glucosaminoglycans in the urine and irregular cartilage structure. [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 |
|---|
| Arhgap28 |
A |
T |
17: 68,203,066 (GRCm39) |
I129N |
probably damaging |
Het |
| Atp6v1b1 |
A |
G |
6: 83,726,897 (GRCm39) |
|
probably benign |
Het |
| Cacna1d |
C |
T |
14: 29,821,163 (GRCm39) |
V1118I |
probably benign |
Het |
| Cadps |
A |
T |
14: 12,491,792 (GRCm38) |
V791D |
probably damaging |
Het |
| Cdh2 |
T |
C |
18: 16,783,495 (GRCm39) |
D78G |
probably benign |
Het |
| Fem1al |
A |
T |
11: 29,774,643 (GRCm39) |
Y271* |
probably null |
Het |
| Flnb |
T |
G |
14: 7,893,829 (GRCm38) |
I714S |
probably benign |
Het |
| Fzd1 |
A |
G |
5: 4,806,037 (GRCm39) |
M515T |
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,015,547 (GRCm39) |
F1288Y |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,659,191 (GRCm39) |
I1868V |
probably benign |
Het |
| Mmel1 |
A |
G |
4: 154,976,967 (GRCm39) |
D561G |
probably null |
Het |
| Mypn |
A |
T |
10: 62,970,743 (GRCm39) |
V887E |
probably benign |
Het |
| Or4c118 |
C |
T |
2: 88,974,947 (GRCm39) |
C140Y |
probably damaging |
Het |
| Or6p1 |
A |
T |
1: 174,258,467 (GRCm39) |
M158L |
probably benign |
Het |
| Or7g28 |
T |
C |
9: 19,271,842 (GRCm39) |
T270A |
probably benign |
Het |
| Osbpl5 |
C |
A |
7: 143,269,430 (GRCm39) |
E49* |
probably null |
Het |
| Prpf8 |
A |
G |
11: 75,381,232 (GRCm39) |
Q189R |
possibly damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Six6 |
T |
A |
12: 72,986,831 (GRCm39) |
M1K |
probably null |
Het |
| Slc13a4 |
A |
G |
6: 35,248,538 (GRCm39) |
|
probably benign |
Het |
| Slc17a1 |
T |
A |
13: 24,058,612 (GRCm39) |
I22N |
probably damaging |
Het |
| Thsd7b |
C |
T |
1: 130,145,918 (GRCm39) |
|
probably benign |
Het |
| Thumpd3 |
A |
G |
6: 113,040,120 (GRCm39) |
I335V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,602,016 (GRCm39) |
T18549A |
possibly damaging |
Het |
| Ugt2b37 |
G |
T |
5: 87,399,698 (GRCm39) |
P270Q |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,105,352 (GRCm39) |
Y158* |
probably null |
Het |
| Zfp282 |
A |
T |
6: 47,857,211 (GRCm39) |
E148V |
probably damaging |
Het |
|
| Other mutations in Arsb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00309:Arsb
|
APN |
13 |
93,926,608 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL00334:Arsb
|
APN |
13 |
94,075,787 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02408:Arsb
|
APN |
13 |
93,930,670 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03396:Arsb
|
APN |
13 |
94,075,825 (GRCm39) |
missense |
probably benign |
0.01 |
|
dipper
|
UTSW |
13 |
93,926,574 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
ouzel
|
UTSW |
13 |
93,930,728 (GRCm39) |
critical splice donor site |
probably null |
|
|
rivulet
|
UTSW |
13 |
93,998,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0145:Arsb
|
UTSW |
13 |
93,998,795 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0379:Arsb
|
UTSW |
13 |
94,077,135 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0488:Arsb
|
UTSW |
13 |
94,077,013 (GRCm39) |
missense |
probably benign |
|
|
R0560:Arsb
|
UTSW |
13 |
93,926,706 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1938:Arsb
|
UTSW |
13 |
93,998,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1968:Arsb
|
UTSW |
13 |
93,944,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2209:Arsb
|
UTSW |
13 |
93,998,609 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2224:Arsb
|
UTSW |
13 |
93,930,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2520:Arsb
|
UTSW |
13 |
94,077,207 (GRCm39) |
nonsense |
probably null |
|
|
R4476:Arsb
|
UTSW |
13 |
93,944,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4910:Arsb
|
UTSW |
13 |
93,908,485 (GRCm39) |
missense |
probably benign |
|
|
R5153:Arsb
|
UTSW |
13 |
94,077,106 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5185:Arsb
|
UTSW |
13 |
93,930,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5272:Arsb
|
UTSW |
13 |
93,930,670 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5475:Arsb
|
UTSW |
13 |
93,998,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5580:Arsb
|
UTSW |
13 |
93,944,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6371:Arsb
|
UTSW |
13 |
93,926,574 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6668:Arsb
|
UTSW |
13 |
93,930,728 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7084:Arsb
|
UTSW |
13 |
94,077,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7735:Arsb
|
UTSW |
13 |
93,908,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7801:Arsb
|
UTSW |
13 |
93,998,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7859:Arsb
|
UTSW |
13 |
93,998,615 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8951:Arsb
|
UTSW |
13 |
93,944,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0010:Arsb
|
UTSW |
13 |
93,930,710 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-12-09 |
Incidental Mutation