Incidental Mutation 'R7859:Arsb'
| ID |
607382 |
| 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 |
045912-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.250)
|
| Stock # |
R7859 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
93908187-94079524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 93998615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 308
(S308T)
|
| 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: S308T
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000088964
Gene: ENSMUSG00000042082
AA Change: S308T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
Pfam:Sulfatase
|
46 |
364 |
1.7e-78 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,603,500 (GRCm39) |
L564P |
probably damaging |
Het |
| Atxn10 |
A |
G |
15: 85,346,526 (GRCm39) |
D428G |
probably benign |
Het |
| BB014433 |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,092,160 (GRCm39) |
|
probably benign |
Het |
| Cd300a |
T |
C |
11: 114,784,165 (GRCm39) |
Y58H |
probably benign |
Het |
| Cemip2 |
T |
A |
19: 21,809,539 (GRCm39) |
I973N |
possibly damaging |
Het |
| Crkl |
T |
A |
16: 17,286,960 (GRCm39) |
M172K |
probably damaging |
Het |
| Cyfip1 |
T |
C |
7: 55,549,774 (GRCm39) |
I647T |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 70,823,683 (GRCm39) |
T223A |
probably benign |
Het |
| Dmtf1 |
T |
C |
5: 9,178,044 (GRCm39) |
S372G |
probably damaging |
Het |
| Dock8 |
G |
A |
19: 25,160,934 (GRCm39) |
V1814M |
probably damaging |
Het |
| Dusp22 |
A |
C |
13: 30,892,737 (GRCm39) |
K171N |
probably benign |
Het |
| Evi2a |
T |
C |
11: 79,418,452 (GRCm39) |
S53G |
probably benign |
Het |
| Ipcef1 |
T |
A |
10: 6,840,569 (GRCm39) |
D376V |
probably damaging |
Het |
| Kndc1 |
A |
T |
7: 139,500,880 (GRCm39) |
D723V |
possibly damaging |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Mcur1 |
G |
A |
13: 43,713,485 (GRCm39) |
R40* |
probably null |
Het |
| Mgam |
T |
A |
6: 40,717,113 (GRCm39) |
N265K |
possibly damaging |
Het |
| Muc6 |
G |
A |
7: 141,231,687 (GRCm39) |
T1069I |
probably damaging |
Het |
| Myh2 |
T |
C |
11: 67,077,526 (GRCm39) |
L887P |
probably damaging |
Het |
| Myo1d |
T |
G |
11: 80,575,203 (GRCm39) |
D171A |
probably damaging |
Het |
| Nat2 |
T |
A |
8: 67,954,002 (GRCm39) |
F37L |
probably damaging |
Het |
| Nkx2-2 |
A |
G |
2: 147,019,730 (GRCm39) |
C236R |
unknown |
Het |
| Nrl |
G |
A |
14: 55,759,582 (GRCm39) |
S115L |
probably benign |
Het |
| Nrsn1 |
A |
C |
13: 25,446,254 (GRCm39) |
S41A |
probably damaging |
Het |
| Or5b12 |
T |
A |
19: 12,897,346 (GRCm39) |
E109V |
probably damaging |
Het |
| Pax8 |
T |
A |
2: 24,311,567 (GRCm39) |
H456L |
possibly damaging |
Het |
| Pkd1 |
T |
A |
17: 24,790,254 (GRCm39) |
I979K |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,150,274 (GRCm39) |
N149D |
probably damaging |
Het |
| Psg28 |
A |
T |
7: 18,160,149 (GRCm39) |
V349D |
probably damaging |
Het |
| Ptpro |
G |
A |
6: 137,369,805 (GRCm39) |
|
probably null |
Het |
| Sema4d |
T |
A |
13: 51,876,387 (GRCm39) |
K94N |
probably benign |
Het |
| Slc22a22 |
A |
T |
15: 57,114,348 (GRCm39) |
D326E |
probably benign |
Het |
| Slc25a29 |
G |
A |
12: 108,792,756 (GRCm39) |
T274I |
probably benign |
Het |
| Slc43a1 |
T |
C |
2: 84,687,220 (GRCm39) |
F374L |
possibly damaging |
Het |
| Syne1 |
G |
T |
10: 5,107,683 (GRCm39) |
Q520K |
possibly damaging |
Het |
| Taar4 |
T |
C |
10: 23,837,032 (GRCm39) |
V214A |
probably benign |
Het |
| Tex22 |
T |
A |
12: 113,052,103 (GRCm39) |
C54S |
possibly damaging |
Het |
| Tpo |
T |
A |
12: 30,150,573 (GRCm39) |
I436F |
probably damaging |
Het |
| Usp53 |
T |
C |
3: 122,743,415 (GRCm39) |
H507R |
possibly damaging |
Het |
| Usp54 |
T |
C |
14: 20,638,204 (GRCm39) |
E255G |
probably benign |
Het |
| Vmn2r109 |
G |
T |
17: 20,761,436 (GRCm39) |
F640L |
probably damaging |
Het |
| Vmn2r124 |
A |
G |
17: 18,282,212 (GRCm39) |
Y80C |
probably damaging |
Het |
| Vmn2r27 |
A |
T |
6: 124,201,201 (GRCm39) |
I252K |
probably benign |
Het |
| Zfp457 |
A |
G |
13: 67,454,445 (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 |
|
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 |
|
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'- ATCGTGGTTCTGTAAAGTCCTCTG -3'
(R):5'- AGCCATCCAGAGGTTTGGTTC -3'
Sequencing Primer
(F):5'- GAGCTCGTTCTCATCAAATGG -3'
(R):5'- CCATCCAGAGGTTTGGTTCCATTAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation