Incidental Mutation 'R5272:Arsb'
| ID |
400433 |
| 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 |
042836-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.250)
|
| Stock # |
R5272 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
93908187-94079524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93930670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 213
(T213S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091403]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091403
AA Change: T213S
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000088964
Gene: ENSMUSG00000042082
AA Change: T213S
| 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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
A |
G |
3: 32,772,759 (GRCm39) |
E245G |
probably damaging |
Het |
| Cep152 |
G |
A |
2: 125,452,950 (GRCm39) |
T374I |
probably benign |
Het |
| Crx |
C |
T |
7: 15,602,210 (GRCm39) |
C156Y |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 16,249,958 (GRCm39) |
T1007S |
probably damaging |
Het |
| Cyp19a1 |
A |
T |
9: 54,083,898 (GRCm39) |
C164S |
probably benign |
Het |
| Ddx55 |
A |
T |
5: 124,696,092 (GRCm39) |
I137F |
possibly damaging |
Het |
| Dgkg |
C |
A |
16: 22,407,044 (GRCm39) |
|
probably null |
Het |
| Dicer1 |
A |
G |
12: 104,670,499 (GRCm39) |
I1022T |
probably damaging |
Het |
| Dis3l2 |
T |
C |
1: 86,901,126 (GRCm39) |
V439A |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,350,811 (GRCm39) |
V2611A |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,104,844 (GRCm39) |
|
probably null |
Het |
| Ercc6 |
A |
T |
14: 32,240,985 (GRCm39) |
K170* |
probably null |
Het |
| Fibcd1 |
A |
T |
2: 31,706,635 (GRCm39) |
C399S |
probably damaging |
Het |
| Fibcd1 |
G |
T |
2: 31,706,636 (GRCm39) |
N398K |
probably damaging |
Het |
| Fnbp4 |
G |
A |
2: 90,583,459 (GRCm39) |
M327I |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,222,479 (GRCm39) |
L256* |
probably null |
Het |
| Galr1 |
T |
A |
18: 82,423,761 (GRCm39) |
Y172F |
probably benign |
Het |
| Gpi1 |
T |
C |
7: 33,920,115 (GRCm39) |
N186S |
probably damaging |
Het |
| Kcnh8 |
A |
G |
17: 53,212,043 (GRCm39) |
I614V |
probably damaging |
Het |
| Krt23 |
A |
T |
11: 99,369,099 (GRCm39) |
I398N |
probably damaging |
Het |
| Mia3 |
G |
A |
1: 183,109,125 (GRCm39) |
R656* |
probably null |
Het |
| Mup6 |
G |
C |
4: 60,005,922 (GRCm39) |
G138A |
probably damaging |
Het |
| Nectin3 |
A |
G |
16: 46,268,839 (GRCm39) |
V521A |
possibly damaging |
Het |
| Nhsl3 |
T |
C |
4: 129,118,005 (GRCm39) |
T208A |
possibly damaging |
Het |
| Nphs1 |
A |
G |
7: 30,181,067 (GRCm39) |
E1096G |
possibly damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Panx1 |
C |
T |
9: 14,956,152 (GRCm39) |
|
probably null |
Het |
| Pcdhb4 |
A |
G |
18: 37,440,819 (GRCm39) |
Y43C |
probably benign |
Het |
| Plbd1 |
A |
G |
6: 136,617,156 (GRCm39) |
Y62H |
probably damaging |
Het |
| Rab40b |
A |
G |
11: 121,248,134 (GRCm39) |
V190A |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,483,558 (GRCm39) |
E4063G |
probably damaging |
Het |
| Smlr1 |
T |
C |
10: 25,411,925 (GRCm39) |
I21V |
probably benign |
Het |
| Tenm4 |
T |
A |
7: 96,523,410 (GRCm39) |
Y1614N |
probably damaging |
Het |
| Tesmin |
C |
A |
19: 3,456,992 (GRCm39) |
A257E |
probably damaging |
Het |
| Tgif1 |
A |
G |
17: 71,153,249 (GRCm39) |
L34P |
probably damaging |
Het |
| Ticrr |
C |
A |
7: 79,319,353 (GRCm39) |
T446K |
probably benign |
Het |
| Tmc7 |
A |
G |
7: 118,160,276 (GRCm39) |
I187T |
probably benign |
Het |
| Tpst2 |
T |
A |
5: 112,455,818 (GRCm39) |
V119E |
probably damaging |
Het |
| Trf |
A |
T |
9: 103,105,177 (GRCm39) |
M45K |
probably damaging |
Het |
| Trim45 |
T |
C |
3: 100,837,235 (GRCm39) |
C524R |
probably damaging |
Het |
| Ttc27 |
G |
A |
17: 75,049,972 (GRCm39) |
V293I |
probably damaging |
Het |
| Ugt1a6b |
C |
T |
1: 88,034,949 (GRCm39) |
R96C |
possibly damaging |
Het |
| Vit |
A |
G |
17: 78,894,264 (GRCm39) |
Q222R |
probably benign |
Het |
| Zfp148 |
T |
A |
16: 33,316,594 (GRCm39) |
V380D |
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 |
|
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 |
|
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'- AAGCTTTCTGCCATGCCGAC -3'
(R):5'- TTCTCCCAGACCTGAGGAAG -3'
Sequencing Primer
(F):5'- TGCCATGCCGACTGTTTC -3'
(R):5'- GACCTGAGGAAGATCCAAATTCTTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation