Incidental Mutation 'R4955:Arsj'
| ID |
381523 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arsj
|
| Ensembl Gene |
ENSMUSG00000046561 |
| Gene Name |
arylsulfatase J |
| Synonyms |
9330196J05Rik |
| MMRRC Submission |
042552-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R4955 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
126157566-126234025 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126232189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 312
(Y312H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093976]
|
| AlphaFold |
Q8BM89 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093976
AA Change: Y312H
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000091511
Gene: ENSMUSG00000046561
AA Change: Y312H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfatase
|
74 |
388 |
8.4e-68 |
PFAM |
|
low complexity region
|
554 |
582 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172051
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199285
|
| Meta Mutation Damage Score |
0.1485 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sulfatases (EC 3.1.5.6), such as ARSJ, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
G |
C |
1: 120,096,840 (GRCm39) |
|
probably benign |
Het |
| 3110009E18Rik |
C |
T |
1: 120,096,850 (GRCm39) |
|
probably benign |
Het |
| 3110009E18Rik |
G |
T |
1: 120,096,849 (GRCm39) |
|
probably benign |
Het |
| 4933407L21Rik |
T |
A |
1: 85,859,008 (GRCm39) |
|
probably benign |
Het |
| Abca8a |
T |
G |
11: 109,927,338 (GRCm39) |
E1338D |
probably benign |
Het |
| Arl2bp |
G |
A |
8: 95,397,056 (GRCm39) |
|
probably null |
Het |
| Atp8b2 |
G |
T |
3: 89,860,227 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
T |
C |
1: 104,912,528 (GRCm39) |
V594A |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,295,640 (GRCm39) |
V1646E |
possibly damaging |
Het |
| Csmd3 |
A |
T |
15: 48,536,914 (GRCm39) |
I96K |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,191,455 (GRCm39) |
Q1556R |
possibly damaging |
Het |
| Fstl5 |
T |
A |
3: 76,131,183 (GRCm39) |
|
probably null |
Het |
| H4c9 |
T |
A |
13: 22,225,355 (GRCm39) |
I47F |
probably damaging |
Het |
| Hivep2 |
T |
A |
10: 14,006,702 (GRCm39) |
M1100K |
probably benign |
Het |
| Ing4 |
C |
T |
6: 125,025,164 (GRCm39) |
A225V |
probably damaging |
Het |
| Kcnc3 |
CTT |
CT |
7: 44,240,720 (GRCm39) |
|
probably null |
Het |
| Khdrbs2 |
T |
A |
1: 32,559,158 (GRCm39) |
|
probably benign |
Het |
| Kif21a |
A |
T |
15: 90,821,393 (GRCm39) |
W1566R |
probably damaging |
Het |
| Lrfn5 |
A |
C |
12: 61,886,764 (GRCm39) |
D184A |
probably benign |
Het |
| Mettl2 |
C |
T |
11: 105,028,605 (GRCm39) |
T319I |
possibly damaging |
Het |
| Mgrn1 |
T |
C |
16: 4,752,083 (GRCm39) |
V529A |
probably benign |
Het |
| Naca |
T |
A |
10: 127,878,084 (GRCm39) |
|
probably benign |
Het |
| Ninj2 |
A |
G |
6: 120,174,907 (GRCm39) |
N26S |
probably damaging |
Het |
| Nqo1 |
A |
G |
8: 108,115,489 (GRCm39) |
S263P |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,959,998 (GRCm39) |
T3566A |
probably benign |
Het |
| Opn5 |
A |
T |
17: 42,922,129 (GRCm39) |
F24L |
probably damaging |
Het |
| Or14j8 |
T |
C |
17: 38,263,789 (GRCm39) |
N42S |
probably damaging |
Het |
| Or2t43 |
A |
G |
11: 58,457,344 (GRCm39) |
Y276H |
probably damaging |
Het |
| Or4k41 |
A |
T |
2: 111,279,950 (GRCm39) |
H155L |
probably damaging |
Het |
| Or52a20 |
A |
T |
7: 103,365,912 (GRCm39) |
Y37F |
probably benign |
Het |
| Palmd |
A |
G |
3: 116,717,873 (GRCm39) |
V208A |
probably damaging |
Het |
| Plekhd1 |
T |
A |
12: 80,768,795 (GRCm39) |
I426N |
possibly damaging |
Het |
| Polq |
T |
G |
16: 36,881,444 (GRCm39) |
Y1203D |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,415,143 (GRCm39) |
F251S |
probably damaging |
Het |
| Prkd3 |
T |
C |
17: 79,260,156 (GRCm39) |
M816V |
probably null |
Het |
| Rab3gap2 |
C |
T |
1: 184,999,352 (GRCm39) |
|
probably benign |
Het |
| Rcan2 |
C |
A |
17: 44,347,972 (GRCm39) |
P13Q |
probably damaging |
Het |
| Slc35b3 |
A |
G |
13: 39,116,866 (GRCm39) |
V329A |
probably benign |
Het |
| Slc5a1 |
T |
C |
5: 33,318,246 (GRCm39) |
M633T |
probably benign |
Het |
| Stac2 |
A |
C |
11: 97,934,374 (GRCm39) |
L110R |
possibly damaging |
Het |
| Styxl2 |
T |
C |
1: 165,935,661 (GRCm39) |
Y179C |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,154,075 (GRCm39) |
E126G |
probably damaging |
Het |
| Ttll6 |
A |
G |
11: 96,029,615 (GRCm39) |
D176G |
possibly damaging |
Het |
| Utrn |
C |
T |
10: 12,737,311 (GRCm39) |
|
probably null |
Het |
| Zfp341 |
T |
C |
2: 154,479,950 (GRCm39) |
V467A |
probably damaging |
Het |
|
| Other mutations in Arsj |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00534:Arsj
|
APN |
3 |
126,158,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01150:Arsj
|
APN |
3 |
126,232,433 (GRCm39) |
missense |
probably benign |
|
|
IGL01337:Arsj
|
APN |
3 |
126,158,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01446:Arsj
|
APN |
3 |
126,232,463 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01484:Arsj
|
APN |
3 |
126,158,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02479:Arsj
|
APN |
3 |
126,232,588 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03149:Arsj
|
APN |
3 |
126,233,053 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0552:Arsj
|
UTSW |
3 |
126,232,993 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0690:Arsj
|
UTSW |
3 |
126,231,833 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1809:Arsj
|
UTSW |
3 |
126,231,944 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1881:Arsj
|
UTSW |
3 |
126,232,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1940:Arsj
|
UTSW |
3 |
126,231,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1957:Arsj
|
UTSW |
3 |
126,232,670 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2156:Arsj
|
UTSW |
3 |
126,232,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2969:Arsj
|
UTSW |
3 |
126,233,021 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3432:Arsj
|
UTSW |
3 |
126,158,624 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4623:Arsj
|
UTSW |
3 |
126,158,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4826:Arsj
|
UTSW |
3 |
126,232,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5134:Arsj
|
UTSW |
3 |
126,231,803 (GRCm39) |
missense |
probably benign |
|
|
R5164:Arsj
|
UTSW |
3 |
126,231,808 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5468:Arsj
|
UTSW |
3 |
126,232,037 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5664:Arsj
|
UTSW |
3 |
126,232,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6136:Arsj
|
UTSW |
3 |
126,158,424 (GRCm39) |
start codon destroyed |
probably null |
0.07 |
|
R7030:Arsj
|
UTSW |
3 |
126,232,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7036:Arsj
|
UTSW |
3 |
126,158,649 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7064:Arsj
|
UTSW |
3 |
126,231,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7503:Arsj
|
UTSW |
3 |
126,158,493 (GRCm39) |
missense |
probably benign |
|
|
R7555:Arsj
|
UTSW |
3 |
126,231,885 (GRCm39) |
nonsense |
probably null |
|
|
R7956:Arsj
|
UTSW |
3 |
126,232,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8765:Arsj
|
UTSW |
3 |
126,232,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9218:Arsj
|
UTSW |
3 |
126,232,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9368:Arsj
|
UTSW |
3 |
126,232,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9675:Arsj
|
UTSW |
3 |
126,231,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9707:Arsj
|
UTSW |
3 |
126,232,160 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
X0022:Arsj
|
UTSW |
3 |
126,158,615 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Z1088:Arsj
|
UTSW |
3 |
126,232,781 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1177:Arsj
|
UTSW |
3 |
126,232,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAATCTTAGCCACCCATG -3'
(R):5'- ACCAATCGGTGATGTGCAC -3'
Sequencing Primer
(F):5'- ATCTTAGCCACCCATGATCCC -3'
(R):5'- GATGTGCACAAGTTCCTTACATACCG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation