Incidental Mutation 'IGL00334:Arsb'
ID |
4263 |
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? |
Probably non essential
(E-score: 0.250)
|
Stock # |
IGL00334
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
93908187-94079524 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 94075787 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 423
(H423Q)
|
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: H423Q
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000088964 Gene: ENSMUSG00000042082 AA Change: H423Q
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: ENSMUST00000180416
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bltp2 |
T |
A |
11: 78,160,400 (GRCm39) |
L620I |
possibly damaging |
Het |
Ces1f |
T |
C |
8: 93,994,620 (GRCm39) |
T264A |
probably benign |
Het |
Clcn6 |
C |
A |
4: 148,102,359 (GRCm39) |
|
probably null |
Het |
Cyb5r3 |
C |
A |
15: 83,044,605 (GRCm39) |
A138S |
probably benign |
Het |
Cyp3a57 |
A |
T |
5: 145,307,834 (GRCm39) |
N197Y |
probably damaging |
Het |
Dctn2 |
A |
G |
10: 127,113,559 (GRCm39) |
|
probably benign |
Het |
Dnmt1 |
C |
T |
9: 20,821,566 (GRCm39) |
A1197T |
possibly damaging |
Het |
Dock2 |
T |
C |
11: 34,595,488 (GRCm39) |
D436G |
probably damaging |
Het |
Drd4 |
A |
G |
7: 140,872,096 (GRCm39) |
N49S |
probably damaging |
Het |
Dst |
T |
A |
1: 34,205,373 (GRCm39) |
V521D |
probably damaging |
Het |
Eif5b |
T |
C |
1: 38,080,800 (GRCm39) |
S714P |
probably damaging |
Het |
Glis3 |
A |
G |
19: 28,517,664 (GRCm39) |
I178T |
probably damaging |
Het |
Gm11565 |
T |
A |
11: 99,806,021 (GRCm39) |
C138S |
possibly damaging |
Het |
H1f8 |
T |
A |
6: 115,924,588 (GRCm39) |
|
probably benign |
Het |
Hdx |
T |
A |
X: 110,492,578 (GRCm39) |
I623F |
probably benign |
Het |
Huwe1 |
T |
G |
X: 150,668,623 (GRCm39) |
L843V |
probably damaging |
Het |
Hyal2 |
T |
C |
9: 107,447,604 (GRCm39) |
Y86H |
probably damaging |
Het |
Irf7 |
A |
T |
7: 140,844,553 (GRCm39) |
S157T |
probably benign |
Het |
Jmjd4 |
T |
A |
11: 59,346,140 (GRCm39) |
M331K |
probably damaging |
Het |
Kdm2a |
A |
T |
19: 4,406,926 (GRCm39) |
D112E |
possibly damaging |
Het |
Mamdc2 |
A |
C |
19: 23,356,138 (GRCm39) |
Y103* |
probably null |
Het |
Map2k3 |
T |
C |
11: 60,834,041 (GRCm39) |
V77A |
possibly damaging |
Het |
Mideas |
G |
A |
12: 84,219,629 (GRCm39) |
R442* |
probably null |
Het |
Mprip |
T |
A |
11: 59,639,417 (GRCm39) |
D403E |
probably benign |
Het |
Mutyh |
T |
A |
4: 116,676,516 (GRCm39) |
V496D |
possibly damaging |
Het |
Nbeal1 |
T |
C |
1: 60,321,042 (GRCm39) |
V2051A |
probably damaging |
Het |
Nbeal1 |
T |
C |
1: 60,367,262 (GRCm39) |
L2575P |
probably damaging |
Het |
Or10j5 |
T |
G |
1: 172,785,158 (GRCm39) |
S265R |
possibly damaging |
Het |
Or51a6 |
T |
C |
7: 102,604,311 (GRCm39) |
K173E |
probably benign |
Het |
Pcdhb6 |
T |
A |
18: 37,467,277 (GRCm39) |
I66N |
probably damaging |
Het |
Pck2 |
T |
C |
14: 55,780,098 (GRCm39) |
Y89H |
probably benign |
Het |
Poglut3 |
T |
A |
9: 53,309,330 (GRCm39) |
|
probably benign |
Het |
Poglut3 |
C |
A |
9: 53,309,328 (GRCm39) |
|
probably benign |
Het |
Polr3e |
C |
T |
7: 120,540,034 (GRCm39) |
Q594* |
probably null |
Het |
Ptpro |
T |
G |
6: 137,371,907 (GRCm39) |
|
probably null |
Het |
Rfx4 |
A |
G |
10: 84,615,917 (GRCm39) |
K28E |
possibly damaging |
Het |
Shox2 |
T |
C |
3: 66,888,774 (GRCm39) |
E39G |
possibly damaging |
Het |
Slc22a16 |
A |
T |
10: 40,449,930 (GRCm39) |
D122V |
probably benign |
Het |
Smr3a |
A |
C |
5: 88,155,919 (GRCm39) |
|
probably benign |
Het |
Spmip8 |
G |
A |
8: 96,039,676 (GRCm39) |
R31H |
probably damaging |
Het |
Taf4 |
G |
T |
2: 179,618,418 (GRCm39) |
L8M |
unknown |
Het |
Tbkbp1 |
T |
A |
11: 97,028,474 (GRCm39) |
|
probably benign |
Het |
Tmem120b |
G |
T |
5: 123,253,230 (GRCm39) |
E210D |
probably damaging |
Het |
Tmem120b |
A |
T |
5: 123,253,229 (GRCm39) |
|
probably null |
Het |
Trim21 |
C |
T |
7: 102,208,805 (GRCm39) |
V305M |
probably damaging |
Het |
Ube4a |
A |
T |
9: 44,859,439 (GRCm39) |
L353Q |
probably damaging |
Het |
Zfyve1 |
A |
T |
12: 83,621,572 (GRCm39) |
N274K |
probably benign |
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 |
IGL01560:Arsb
|
APN |
13 |
93,944,106 (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 |
2012-04-20 |