Incidental Mutation 'R3723:Arsk'
| ID |
270642 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arsk
|
| Ensembl Gene |
ENSMUSG00000021592 |
| Gene Name |
arylsulfatase K |
| Synonyms |
2810429K17Rik, 4833414G15Rik |
| MMRRC Submission |
040714-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3723 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
76208829-76246744 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76214772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 361
(I361F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120573]
|
| AlphaFold |
Q9D2L1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120573
AA Change: I361F
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113274
Gene: ENSMUSG00000021592
AA Change: I361F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Sulfatase
|
35 |
371 |
6e-49 |
PFAM |
|
low complexity region
|
381 |
392 |
N/A |
INTRINSIC |
|
low complexity region
|
537 |
555 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123282
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146753
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224884
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225642
|
| Meta Mutation Damage Score |
0.2273 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
95% (38/40) |
| 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 ARSK, 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,994,217 (GRCm39) |
V5167A |
possibly damaging |
Het |
| Ano5 |
A |
G |
7: 51,226,276 (GRCm39) |
Y510C |
probably damaging |
Het |
| Api5 |
C |
T |
2: 94,255,958 (GRCm39) |
R243Q |
possibly damaging |
Het |
| Apob |
A |
T |
12: 8,056,327 (GRCm39) |
Q1570L |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,061,763 (GRCm39) |
N3415S |
possibly damaging |
Het |
| C9 |
G |
A |
15: 6,512,561 (GRCm39) |
E228K |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,304,731 (GRCm39) |
|
probably benign |
Het |
| Cfap53 |
A |
G |
18: 74,492,640 (GRCm39) |
I455V |
probably benign |
Het |
| Ckap4 |
A |
G |
10: 84,364,256 (GRCm39) |
L269P |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,486,505 (GRCm39) |
D3352V |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,041,658 (GRCm39) |
M3335K |
probably benign |
Het |
| Fam171a1 |
A |
G |
2: 3,221,412 (GRCm39) |
|
probably benign |
Het |
| Glis3 |
A |
T |
19: 28,239,991 (GRCm39) |
C97* |
probably null |
Het |
| Gm14221 |
C |
G |
2: 160,410,347 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8603 |
A |
C |
17: 13,737,075 (GRCm39) |
|
probably null |
Het |
| Gm9767 |
G |
T |
10: 25,954,469 (GRCm39) |
|
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,391,912 (GRCm39) |
T167A |
possibly damaging |
Het |
| Kif18b |
A |
G |
11: 102,807,102 (GRCm39) |
F78L |
probably damaging |
Het |
| Mefv |
A |
G |
16: 3,526,058 (GRCm39) |
|
probably null |
Het |
| Mipol1 |
C |
A |
12: 57,503,878 (GRCm39) |
L349I |
probably damaging |
Het |
| Myo10 |
T |
C |
15: 25,803,374 (GRCm39) |
V1527A |
probably damaging |
Het |
| Naip5 |
G |
T |
13: 100,359,522 (GRCm39) |
Y571* |
probably null |
Het |
| Npl |
A |
G |
1: 153,391,210 (GRCm39) |
F182L |
probably benign |
Het |
| Pan3 |
T |
A |
5: 147,440,018 (GRCm39) |
|
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,481,680 (GRCm39) |
T342S |
probably benign |
Het |
| Pcdhga1 |
A |
G |
18: 37,796,045 (GRCm39) |
T350A |
possibly damaging |
Het |
| Pramel28 |
T |
C |
4: 143,693,251 (GRCm39) |
T76A |
probably benign |
Het |
| Prdm4 |
A |
G |
10: 85,735,145 (GRCm39) |
S666P |
probably damaging |
Het |
| Rere |
A |
G |
4: 150,553,252 (GRCm39) |
E148G |
probably damaging |
Het |
| Scube2 |
T |
C |
7: 109,407,613 (GRCm39) |
|
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,087,335 (GRCm39) |
S1035P |
possibly damaging |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| Supt3 |
A |
G |
17: 45,305,274 (GRCm39) |
D108G |
probably damaging |
Het |
| Tnfsf13b |
A |
G |
8: 10,081,545 (GRCm39) |
I236V |
possibly damaging |
Het |
| Tns1 |
T |
C |
1: 73,964,099 (GRCm39) |
S1511G |
probably damaging |
Het |
| Tpm1 |
G |
A |
9: 66,939,227 (GRCm39) |
|
probably benign |
Het |
| Uba6 |
T |
C |
5: 86,282,906 (GRCm39) |
D559G |
probably damaging |
Het |
| Vmn1r117 |
T |
A |
7: 20,617,380 (GRCm39) |
I223F |
probably damaging |
Het |
| Vmn2r91 |
G |
A |
17: 18,305,540 (GRCm39) |
|
probably null |
Het |
| Zfp30 |
A |
G |
7: 29,492,778 (GRCm39) |
E344G |
probably damaging |
Het |
|
| Other mutations in Arsk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00903:Arsk
|
APN |
13 |
76,246,487 (GRCm39) |
splice site |
probably null |
|
|
IGL02537:Arsk
|
APN |
13 |
76,223,025 (GRCm39) |
nonsense |
probably null |
|
|
IGL02691:Arsk
|
APN |
13 |
76,223,069 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03038:Arsk
|
APN |
13 |
76,213,632 (GRCm39) |
splice site |
probably benign |
|
|
PIT4480001:Arsk
|
UTSW |
13 |
76,210,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0277:Arsk
|
UTSW |
13 |
76,223,051 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0900:Arsk
|
UTSW |
13 |
76,246,576 (GRCm39) |
unclassified |
probably benign |
|
|
R1441:Arsk
|
UTSW |
13 |
76,223,083 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1748:Arsk
|
UTSW |
13 |
76,210,529 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1923:Arsk
|
UTSW |
13 |
76,214,985 (GRCm39) |
splice site |
probably benign |
|
|
R2131:Arsk
|
UTSW |
13 |
76,239,931 (GRCm39) |
nonsense |
probably null |
|
|
R4088:Arsk
|
UTSW |
13 |
76,246,533 (GRCm39) |
missense |
probably benign |
|
|
R4851:Arsk
|
UTSW |
13 |
76,213,398 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5406:Arsk
|
UTSW |
13 |
76,242,066 (GRCm39) |
missense |
probably benign |
|
|
R5629:Arsk
|
UTSW |
13 |
76,242,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5869:Arsk
|
UTSW |
13 |
76,239,903 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6217:Arsk
|
UTSW |
13 |
76,239,935 (GRCm39) |
missense |
unknown |
|
|
R6552:Arsk
|
UTSW |
13 |
76,220,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6560:Arsk
|
UTSW |
13 |
76,223,105 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6726:Arsk
|
UTSW |
13 |
76,222,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7421:Arsk
|
UTSW |
13 |
76,210,634 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8178:Arsk
|
UTSW |
13 |
76,239,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8274:Arsk
|
UTSW |
13 |
76,220,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8503:Arsk
|
UTSW |
13 |
76,239,830 (GRCm39) |
nonsense |
probably null |
|
|
R8743:Arsk
|
UTSW |
13 |
76,214,928 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9517:Arsk
|
UTSW |
13 |
76,210,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9619:Arsk
|
UTSW |
13 |
76,223,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9644:Arsk
|
UTSW |
13 |
76,220,227 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0050:Arsk
|
UTSW |
13 |
76,213,399 (GRCm39) |
missense |
probably null |
0.78 |
|
X0066:Arsk
|
UTSW |
13 |
76,210,575 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1192:Arsk
|
UTSW |
13 |
76,246,637 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCCATATACCTTTGAGCCATC -3'
(R):5'- CCACTTGTGTGATGAACTAAAACAC -3'
Sequencing Primer
(F):5'- TGAGCCATCATCCTTGAAGG -3'
(R):5'- TGGCTCTTCACAAGTTAGATCTTC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation