Incidental Mutation 'R0488:Arsb'
ID |
42428 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
038687-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.250)
|
Stock # |
R0488 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
93908187-94079524 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 94077013 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 460
(V460A)
|
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: V460A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000088964 Gene: ENSMUSG00000042082 AA Change: V460A
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
|
Meta Mutation Damage Score |
0.1269 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
100% (54/54) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam19 |
T |
G |
11: 46,029,757 (GRCm39) |
L734R |
probably damaging |
Het |
Adgrf1 |
T |
C |
17: 43,621,302 (GRCm39) |
I513T |
probably damaging |
Het |
Adgrl2 |
A |
G |
3: 148,552,541 (GRCm39) |
V654A |
probably damaging |
Het |
Agl |
A |
T |
3: 116,548,611 (GRCm39) |
Y1249* |
probably null |
Het |
Ankar |
T |
A |
1: 72,697,891 (GRCm39) |
Q996H |
probably damaging |
Het |
Aqp12 |
T |
C |
1: 92,936,378 (GRCm39) |
Y235H |
probably damaging |
Het |
Baiap3 |
A |
G |
17: 25,467,444 (GRCm39) |
|
probably null |
Het |
Cd44 |
T |
C |
2: 102,664,564 (GRCm39) |
|
probably benign |
Het |
Clec4b1 |
T |
A |
6: 123,048,441 (GRCm39) |
I192N |
probably damaging |
Het |
Cplane2 |
A |
G |
4: 140,941,712 (GRCm39) |
D14G |
probably benign |
Het |
Cps1 |
A |
C |
1: 67,187,967 (GRCm39) |
|
probably benign |
Het |
Dab2 |
T |
C |
15: 6,454,135 (GRCm39) |
L215S |
probably damaging |
Het |
E2f4 |
G |
A |
8: 106,025,171 (GRCm39) |
V84I |
probably damaging |
Het |
Edem2 |
T |
C |
2: 155,558,043 (GRCm39) |
T197A |
probably damaging |
Het |
Eno2 |
T |
A |
6: 124,740,837 (GRCm39) |
M121L |
probably benign |
Het |
Ephb1 |
A |
G |
9: 101,841,207 (GRCm39) |
V757A |
probably damaging |
Het |
Etv5 |
T |
A |
16: 22,231,695 (GRCm39) |
I106F |
probably damaging |
Het |
Foxj3 |
T |
A |
4: 119,477,187 (GRCm39) |
Y298* |
probably null |
Het |
Gm12185 |
A |
G |
11: 48,798,666 (GRCm39) |
L609S |
probably damaging |
Het |
Gm5884 |
T |
C |
6: 128,623,031 (GRCm39) |
|
noncoding transcript |
Het |
Havcr1 |
A |
G |
11: 46,643,398 (GRCm39) |
Y106C |
probably damaging |
Het |
Jmjd1c |
A |
G |
10: 67,076,506 (GRCm39) |
N2110S |
probably damaging |
Het |
Kif2b |
T |
C |
11: 91,467,798 (GRCm39) |
K162E |
probably benign |
Het |
Micu2 |
T |
C |
14: 58,169,699 (GRCm39) |
Y217C |
probably benign |
Het |
Mink1 |
G |
T |
11: 70,488,030 (GRCm39) |
G32C |
probably damaging |
Het |
Mnat1 |
T |
A |
12: 73,217,413 (GRCm39) |
N96K |
probably damaging |
Het |
Mpp2 |
G |
T |
11: 101,952,427 (GRCm39) |
R349S |
possibly damaging |
Het |
Mrpl13 |
T |
A |
15: 55,402,544 (GRCm39) |
I59F |
probably benign |
Het |
Mybl2 |
T |
C |
2: 162,914,534 (GRCm39) |
|
probably benign |
Het |
Otogl |
T |
C |
10: 107,639,466 (GRCm39) |
E1382G |
probably benign |
Het |
Pclo |
A |
G |
5: 14,719,313 (GRCm39) |
E1150G |
unknown |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Pkd1l3 |
G |
A |
8: 110,350,295 (GRCm39) |
S380N |
probably benign |
Het |
Pla2g4a |
G |
A |
1: 149,747,196 (GRCm39) |
T322M |
probably damaging |
Het |
Pramel11 |
A |
T |
4: 143,621,973 (GRCm39) |
Y461N |
probably benign |
Het |
Prpsap2 |
A |
G |
11: 61,631,826 (GRCm39) |
I177T |
possibly damaging |
Het |
Ptprg |
A |
T |
14: 12,220,653 (GRCm38) |
D455V |
probably damaging |
Het |
Ptprt |
T |
C |
2: 161,395,745 (GRCm39) |
T1162A |
probably damaging |
Het |
Rad51ap1 |
T |
C |
6: 126,911,723 (GRCm39) |
N55D |
possibly damaging |
Het |
Rc3h2 |
T |
C |
2: 37,279,600 (GRCm39) |
E543G |
probably damaging |
Het |
Rimklb |
G |
A |
6: 122,437,934 (GRCm39) |
T103I |
probably benign |
Het |
Samd4b |
T |
C |
7: 28,113,662 (GRCm39) |
Y101C |
probably damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Tubgcp5 |
T |
A |
7: 55,479,086 (GRCm39) |
S979T |
probably damaging |
Het |
Vmn2r93 |
G |
A |
17: 18,546,311 (GRCm39) |
E728K |
probably damaging |
Het |
Wdr17 |
T |
C |
8: 55,146,087 (GRCm39) |
|
probably benign |
Het |
Wdr90 |
T |
C |
17: 26,067,591 (GRCm39) |
Y1457C |
probably damaging |
Het |
Wsb1 |
T |
C |
11: 79,135,326 (GRCm39) |
D225G |
probably damaging |
Het |
Xirp2 |
T |
C |
2: 67,345,165 (GRCm39) |
S2469P |
possibly damaging |
Het |
Zeb1 |
T |
A |
18: 5,772,455 (GRCm39) |
C915S |
probably damaging |
Het |
Znfx1 |
C |
A |
2: 166,884,483 (GRCm39) |
R923L |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGAACTCGACATCAGAAGGCACAG -3'
(R):5'- TATGTAGCATGAGGGCCAGGTGAC -3'
Sequencing Primer
(F):5'- AGAAGGCACAGGTTTTTTGTTTG -3'
(R):5'- GTCTAGCCTGCCCAGAAATG -3'
|
Posted On |
2013-05-23 |