Incidental Mutation 'IGL03396:Arsb'
ID |
421261 |
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 # |
IGL03396
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
93908187-94079524 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 94075825 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 436
(Y436F)
|
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: Y436F
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000088964 Gene: ENSMUSG00000042082 AA Change: Y436F
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadvl |
G |
A |
11: 69,902,239 (GRCm39) |
R457* |
probably null |
Het |
Arl5b |
C |
A |
2: 15,079,915 (GRCm39) |
T153K |
probably damaging |
Het |
Azgp1 |
C |
T |
5: 137,983,445 (GRCm39) |
P40L |
possibly damaging |
Het |
B020004C17Rik |
A |
G |
14: 57,253,993 (GRCm39) |
T39A |
possibly damaging |
Het |
Cacna2d3 |
G |
A |
14: 29,442,834 (GRCm39) |
Q67* |
probably null |
Het |
Cdcp2 |
C |
A |
4: 106,964,369 (GRCm39) |
Y406* |
probably null |
Het |
Cep89 |
T |
A |
7: 35,128,603 (GRCm39) |
D585E |
probably benign |
Het |
Cfap65 |
A |
G |
1: 74,943,801 (GRCm39) |
F1570S |
probably damaging |
Het |
Cnfn |
A |
G |
7: 25,067,783 (GRCm39) |
|
probably benign |
Het |
Fgd6 |
G |
A |
10: 93,880,318 (GRCm39) |
V391I |
probably benign |
Het |
Fra10ac1 |
C |
T |
19: 38,189,994 (GRCm39) |
|
probably null |
Het |
Gjd3 |
T |
C |
11: 102,691,353 (GRCm39) |
K217E |
probably benign |
Het |
Il20rb |
T |
C |
9: 100,341,251 (GRCm39) |
E285G |
probably damaging |
Het |
Ints2 |
T |
C |
11: 86,103,888 (GRCm39) |
T1086A |
probably damaging |
Het |
Itih4 |
A |
T |
14: 30,609,906 (GRCm39) |
I79F |
probably damaging |
Het |
Jmjd6 |
A |
T |
11: 116,732,077 (GRCm39) |
L208H |
probably damaging |
Het |
Lilrb4b |
A |
G |
10: 51,357,253 (GRCm39) |
I30V |
possibly damaging |
Het |
Limch1 |
A |
G |
5: 67,111,016 (GRCm39) |
N81S |
probably damaging |
Het |
Mettl21e |
A |
T |
1: 44,245,759 (GRCm39) |
N162K |
possibly damaging |
Het |
Ninl |
A |
G |
2: 150,808,132 (GRCm39) |
S299P |
possibly damaging |
Het |
Obscn |
A |
G |
11: 58,964,404 (GRCm39) |
L3046P |
probably benign |
Het |
Or1j14 |
C |
A |
2: 36,417,692 (GRCm39) |
S89R |
probably benign |
Het |
Or5b98 |
T |
A |
19: 12,931,184 (GRCm39) |
V77E |
probably damaging |
Het |
Or6c68 |
A |
G |
10: 129,157,916 (GRCm39) |
I141M |
probably benign |
Het |
Pnpla8 |
G |
A |
12: 44,330,309 (GRCm39) |
R287H |
probably benign |
Het |
Pot1a |
A |
C |
6: 25,745,913 (GRCm39) |
I596R |
possibly damaging |
Het |
Prkaa1 |
A |
G |
15: 5,206,131 (GRCm39) |
D329G |
probably damaging |
Het |
Ptprr |
T |
G |
10: 116,024,235 (GRCm39) |
V182G |
probably damaging |
Het |
Rrp1b |
T |
A |
17: 32,276,237 (GRCm39) |
|
probably benign |
Het |
Sec24a |
A |
G |
11: 51,599,794 (GRCm39) |
V837A |
probably benign |
Het |
Slc17a6 |
A |
G |
7: 51,318,840 (GRCm39) |
Y494C |
probably damaging |
Het |
Slc38a10 |
A |
T |
11: 120,019,301 (GRCm39) |
I360N |
probably damaging |
Het |
Snrpb2 |
T |
C |
2: 142,913,377 (GRCm39) |
F194L |
possibly damaging |
Het |
Tcam1 |
A |
G |
11: 106,176,212 (GRCm39) |
I313V |
probably benign |
Het |
Trpv1 |
A |
G |
11: 73,143,882 (GRCm39) |
N238S |
probably benign |
Het |
Usp20 |
T |
C |
2: 30,901,729 (GRCm39) |
V498A |
probably benign |
Het |
Vmn2r23 |
T |
C |
6: 123,706,585 (GRCm39) |
S472P |
probably damaging |
Het |
Vmn2r98 |
A |
T |
17: 19,290,107 (GRCm39) |
T548S |
possibly damaging |
Het |
Zfp429 |
A |
T |
13: 67,544,159 (GRCm39) |
|
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 |
IGL00334:Arsb
|
APN |
13 |
94,075,787 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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 |
2016-08-02 |