Incidental Mutation 'IGL02408:Arsb'
| ID |
292178 |
| 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 # |
IGL02408
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
93908187-94079524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93930670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 213
(T213A)
|
| 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: T213A
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000088964
Gene: ENSMUSG00000042082
AA Change: T213A
| 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: ENSMUST00000176635
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,621,130 (GRCm39) |
Y278C |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,062,444 (GRCm39) |
L498P |
possibly damaging |
Het |
| Acot11 |
A |
G |
4: 106,615,578 (GRCm39) |
F271S |
probably damaging |
Het |
| Acr |
T |
A |
15: 89,454,217 (GRCm39) |
Y185N |
probably damaging |
Het |
| Adcy10 |
C |
T |
1: 165,365,949 (GRCm39) |
R489C |
probably damaging |
Het |
| Atg2a |
T |
A |
19: 6,291,858 (GRCm39) |
C11* |
probably null |
Het |
| B3galt6 |
A |
T |
4: 156,076,152 (GRCm39) |
Y308N |
probably damaging |
Het |
| Cd226 |
A |
G |
18: 89,225,451 (GRCm39) |
N116S |
probably benign |
Het |
| Crat |
T |
A |
2: 30,297,146 (GRCm39) |
D269V |
probably damaging |
Het |
| Crim1 |
T |
A |
17: 78,623,083 (GRCm39) |
I427N |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,790,298 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,407,776 (GRCm39) |
V374E |
probably damaging |
Het |
| Dtl |
A |
G |
1: 191,273,352 (GRCm39) |
S519P |
probably benign |
Het |
| Fastkd1 |
C |
T |
2: 69,532,945 (GRCm39) |
R474H |
probably benign |
Het |
| Fbxo10 |
T |
C |
4: 45,058,361 (GRCm39) |
T459A |
possibly damaging |
Het |
| Frmd4b |
A |
G |
6: 97,272,770 (GRCm39) |
L828P |
probably damaging |
Het |
| Gc |
T |
C |
5: 89,593,255 (GRCm39) |
S55G |
probably benign |
Het |
| Gm6455 |
T |
G |
5: 10,917,257 (GRCm39) |
|
noncoding transcript |
Het |
| Gnai2 |
T |
C |
9: 107,493,393 (GRCm39) |
T280A |
probably benign |
Het |
| Hmgn2 |
A |
G |
4: 133,693,260 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
G |
T |
10: 67,062,161 (GRCm39) |
A1505S |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 102,982,142 (GRCm39) |
K1393E |
probably benign |
Het |
| Mcam |
A |
G |
9: 44,051,547 (GRCm39) |
N469D |
probably benign |
Het |
| Mrpl47 |
A |
G |
3: 32,790,789 (GRCm39) |
|
probably null |
Het |
| Mslnl |
C |
T |
17: 25,966,972 (GRCm39) |
A659V |
possibly damaging |
Het |
| Nlrp1a |
A |
G |
11: 71,013,456 (GRCm39) |
V598A |
probably benign |
Het |
| Npff |
A |
T |
15: 102,433,000 (GRCm39) |
L15Q |
probably null |
Het |
| Obsl1 |
G |
T |
1: 75,481,890 (GRCm39) |
Q327K |
probably damaging |
Het |
| Or13a18 |
T |
C |
7: 140,190,844 (GRCm39) |
V255A |
probably damaging |
Het |
| Or4c58 |
T |
A |
2: 89,675,315 (GRCm39) |
M1L |
probably benign |
Het |
| Or52s1b |
T |
C |
7: 102,822,658 (GRCm39) |
Y62C |
probably damaging |
Het |
| Or7e165 |
A |
T |
9: 19,694,711 (GRCm39) |
Y94F |
probably benign |
Het |
| Or8b50 |
G |
A |
9: 38,518,417 (GRCm39) |
G219S |
possibly damaging |
Het |
| Pdzd2 |
T |
A |
15: 12,375,851 (GRCm39) |
H1428L |
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,627,203 (GRCm39) |
E414G |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,106,617 (GRCm39) |
D3251G |
probably benign |
Het |
| Secisbp2l |
G |
T |
2: 125,582,789 (GRCm39) |
S889* |
probably null |
Het |
| Setx |
T |
A |
2: 29,023,942 (GRCm39) |
C133S |
probably damaging |
Het |
| Slc22a29 |
A |
C |
19: 8,184,649 (GRCm39) |
S214A |
probably benign |
Het |
| Slc30a5 |
A |
C |
13: 100,950,232 (GRCm39) |
L285R |
probably damaging |
Het |
| Taar7a |
T |
G |
10: 23,868,500 (GRCm39) |
I294L |
probably benign |
Het |
| Tfap2b |
T |
A |
1: 19,304,485 (GRCm39) |
F414I |
probably damaging |
Het |
| Trpc4ap |
A |
T |
2: 155,512,989 (GRCm39) |
Y129N |
possibly damaging |
Het |
| Vmn2r94 |
T |
C |
17: 18,473,523 (GRCm39) |
E501G |
probably benign |
Het |
| Xpot |
T |
C |
10: 121,439,070 (GRCm39) |
H709R |
probably damaging |
Het |
| Zfhx3 |
T |
A |
8: 109,682,004 (GRCm39) |
|
probably benign |
Het |
| Zscan22 |
T |
G |
7: 12,640,426 (GRCm39) |
H223Q |
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 |
|
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 |
2015-04-16 |
Incidental Mutation