Incidental Mutation 'R0448:Arsi'
| ID |
39486 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arsi
|
| Ensembl Gene |
ENSMUSG00000036412 |
| Gene Name |
arylsulfatase i |
| Synonyms |
|
| MMRRC Submission |
038648-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R0448 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
61045063-61051633 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61050374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 419
(I419T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043966
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040359]
|
| AlphaFold |
Q32KI9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040359
AA Change: I419T
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043966
Gene: ENSMUSG00000036412
AA Change: I419T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Sulfatase
|
47 |
360 |
8.2e-73 |
PFAM |
|
low complexity region
|
526 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
547 |
556 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3756 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.1%
|
| Validation Efficiency |
100% (74/74) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a large family of sulfatases that hydrolyze sulfate esters and sulfamates. Members of this family play a role in several cellular processes, including hormone synthesis, cell signaling in development and degradation of macromolecules. The protein encoded by this gene is thought to be secreted, and to function in extracellular space. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
G |
A |
16: 20,218,687 (GRCm39) |
R232C |
probably damaging |
Het |
| Adam9 |
A |
G |
8: 25,454,926 (GRCm39) |
S732P |
probably damaging |
Het |
| Add2 |
G |
A |
6: 86,069,901 (GRCm39) |
V140I |
probably benign |
Het |
| Ahi1 |
G |
A |
10: 20,847,974 (GRCm39) |
G461S |
probably damaging |
Het |
| Aoc1l2 |
A |
T |
6: 48,909,991 (GRCm39) |
S643C |
probably damaging |
Het |
| Arhgef7 |
A |
G |
8: 11,869,659 (GRCm39) |
T432A |
possibly damaging |
Het |
| Brca1 |
G |
A |
11: 101,399,047 (GRCm39) |
P1515L |
possibly damaging |
Het |
| Brcc3 |
T |
A |
X: 74,493,647 (GRCm39) |
L222* |
probably null |
Het |
| Brpf3 |
A |
T |
17: 29,025,010 (GRCm39) |
T28S |
probably benign |
Het |
| Cdc20b |
T |
A |
13: 113,215,191 (GRCm39) |
V253E |
probably damaging |
Het |
| Cnot6l |
T |
A |
5: 96,227,905 (GRCm39) |
S443C |
probably benign |
Het |
| Copg1 |
G |
A |
6: 87,881,908 (GRCm39) |
A587T |
probably benign |
Het |
| Crebrf |
A |
G |
17: 26,962,076 (GRCm39) |
D391G |
probably benign |
Het |
| Crocc |
A |
T |
4: 140,769,502 (GRCm39) |
D283E |
probably damaging |
Het |
| Cryga |
T |
C |
1: 65,142,318 (GRCm39) |
N25S |
probably benign |
Het |
| Csnk1g1 |
T |
C |
9: 65,888,230 (GRCm39) |
F90L |
possibly damaging |
Het |
| Cyp2j6 |
A |
G |
4: 96,433,965 (GRCm39) |
V115A |
probably benign |
Het |
| Cyp3a11 |
T |
C |
5: 145,799,204 (GRCm39) |
I328V |
probably benign |
Het |
| Dchs1 |
C |
A |
7: 105,415,134 (GRCm39) |
E683D |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,809,539 (GRCm39) |
|
probably benign |
Het |
| Dqx1 |
T |
C |
6: 83,037,326 (GRCm39) |
S330P |
probably damaging |
Het |
| Epg5 |
A |
G |
18: 78,066,580 (GRCm39) |
Y2160C |
probably damaging |
Het |
| Ercc5 |
T |
C |
1: 44,213,100 (GRCm39) |
L742P |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,839,660 (GRCm39) |
I491T |
probably benign |
Het |
| Flt1 |
C |
T |
5: 147,503,204 (GRCm39) |
|
probably benign |
Het |
| Grip2 |
A |
G |
6: 91,756,194 (GRCm39) |
S498P |
probably damaging |
Het |
| H2-T22 |
A |
G |
17: 36,353,278 (GRCm39) |
L14P |
possibly damaging |
Het |
| Hephl1 |
C |
T |
9: 14,988,222 (GRCm39) |
G629S |
probably damaging |
Het |
| Hsdl2 |
T |
A |
4: 59,606,523 (GRCm39) |
M162K |
unknown |
Het |
| Kcnh8 |
C |
A |
17: 53,284,648 (GRCm39) |
|
probably null |
Het |
| Krt76 |
T |
C |
15: 101,799,082 (GRCm39) |
Q201R |
probably damaging |
Het |
| Lrpprc |
A |
T |
17: 85,078,322 (GRCm39) |
Y319N |
probably benign |
Het |
| Lrrk2 |
T |
G |
15: 91,593,508 (GRCm39) |
I489R |
probably damaging |
Het |
| Mboat1 |
G |
T |
13: 30,386,393 (GRCm39) |
D136Y |
probably damaging |
Het |
| Mcmdc2 |
T |
C |
1: 10,010,767 (GRCm39) |
*682Q |
probably null |
Het |
| Msx2 |
C |
A |
13: 53,622,431 (GRCm39) |
R193L |
probably damaging |
Het |
| Nfatc4 |
T |
G |
14: 56,069,111 (GRCm39) |
D625E |
possibly damaging |
Het |
| Nup153 |
T |
C |
13: 46,870,657 (GRCm39) |
E86G |
probably benign |
Het |
| Or2g7 |
G |
T |
17: 38,378,563 (GRCm39) |
R167L |
probably benign |
Het |
| Or4k45 |
T |
A |
2: 111,395,559 (GRCm39) |
I77F |
probably benign |
Het |
| Pard3b |
T |
C |
1: 62,205,628 (GRCm39) |
L474P |
probably damaging |
Het |
| Pate11 |
T |
A |
9: 36,388,412 (GRCm39) |
M79K |
probably benign |
Het |
| Pggt1b |
A |
T |
18: 46,396,039 (GRCm39) |
|
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 71,224,688 (GRCm39) |
|
probably benign |
Het |
| Prr14 |
A |
G |
7: 127,073,898 (GRCm39) |
|
probably benign |
Het |
| Rcbtb2 |
T |
C |
14: 73,415,869 (GRCm39) |
|
probably benign |
Het |
| Rufy2 |
G |
A |
10: 62,840,515 (GRCm39) |
D429N |
probably benign |
Het |
| S1pr5 |
T |
A |
9: 21,155,503 (GRCm39) |
T308S |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Serpina12 |
A |
G |
12: 104,004,354 (GRCm39) |
S93P |
probably benign |
Het |
| Serpinb1b |
T |
G |
13: 33,273,675 (GRCm39) |
H123Q |
probably benign |
Het |
| Sftpc |
C |
T |
14: 70,760,120 (GRCm39) |
V46I |
probably benign |
Het |
| Skint8 |
T |
A |
4: 111,794,087 (GRCm39) |
V159D |
probably damaging |
Het |
| Slc25a11 |
T |
C |
11: 70,536,405 (GRCm39) |
N134S |
probably benign |
Het |
| Slc25a24 |
T |
C |
3: 109,064,332 (GRCm39) |
|
probably benign |
Het |
| Sorl1 |
C |
G |
9: 41,915,384 (GRCm39) |
V1282L |
probably damaging |
Het |
| Sptan1 |
T |
A |
2: 29,916,822 (GRCm39) |
I2170N |
probably damaging |
Het |
| Syne4 |
A |
G |
7: 30,014,345 (GRCm39) |
|
probably benign |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tg |
C |
A |
15: 66,636,291 (GRCm39) |
P626Q |
probably damaging |
Het |
| Thoc6 |
T |
A |
17: 23,888,550 (GRCm39) |
D196V |
probably damaging |
Het |
| Tpi1 |
A |
G |
6: 124,791,066 (GRCm39) |
F57S |
probably damaging |
Het |
| Tril |
A |
G |
6: 53,794,793 (GRCm39) |
*810Q |
probably null |
Het |
| Trrap |
T |
A |
5: 144,776,377 (GRCm39) |
V2972D |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,591,624 (GRCm39) |
V12688E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,551,283 (GRCm39) |
M31370V |
probably damaging |
Het |
| Txndc11 |
A |
G |
16: 10,909,625 (GRCm39) |
F307S |
probably damaging |
Het |
| Vmn1r40 |
C |
T |
6: 89,691,642 (GRCm39) |
S153L |
probably benign |
Het |
| Vmn2r95 |
A |
G |
17: 18,672,005 (GRCm39) |
T581A |
possibly damaging |
Het |
| Wdtc1 |
A |
G |
4: 133,024,811 (GRCm39) |
F462S |
probably damaging |
Het |
| Zfp101 |
A |
G |
17: 33,601,295 (GRCm39) |
S154P |
possibly damaging |
Het |
| Zmym6 |
A |
G |
4: 127,002,487 (GRCm39) |
N481D |
probably benign |
Het |
|
| Other mutations in Arsi |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00897:Arsi
|
APN |
18 |
61,045,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02519:Arsi
|
APN |
18 |
61,050,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03186:Arsi
|
APN |
18 |
61,050,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03134:Arsi
|
UTSW |
18 |
61,050,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0003:Arsi
|
UTSW |
18 |
61,050,058 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0003:Arsi
|
UTSW |
18 |
61,050,058 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1147:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1147:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1148:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1148:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1190:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1261:Arsi
|
UTSW |
18 |
61,049,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1511:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1538:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1635:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1641:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1759:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1794:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1822:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1824:Arsi
|
UTSW |
18 |
61,045,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1824:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1930:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1932:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1983:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2035:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2036:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2108:Arsi
|
UTSW |
18 |
61,049,443 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2166:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2168:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2261:Arsi
|
UTSW |
18 |
61,049,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2263:Arsi
|
UTSW |
18 |
61,049,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2299:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2300:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2393:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2402:Arsi
|
UTSW |
18 |
61,049,539 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2484:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2511:Arsi
|
UTSW |
18 |
61,049,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2994:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2995:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2996:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2997:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3625:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3694:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3695:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3883:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3884:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3907:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3932:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3954:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4212:Arsi
|
UTSW |
18 |
61,049,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4256:Arsi
|
UTSW |
18 |
61,050,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4257:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4258:Arsi
|
UTSW |
18 |
61,050,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4459:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4469:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4601:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4603:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4610:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4649:Arsi
|
UTSW |
18 |
61,050,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4650:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4651:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4652:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4749:Arsi
|
UTSW |
18 |
61,050,533 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4766:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4807:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4808:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4856:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4860:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4860:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4886:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5015:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5121:Arsi
|
UTSW |
18 |
61,050,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5185:Arsi
|
UTSW |
18 |
61,049,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6191:Arsi
|
UTSW |
18 |
61,045,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6197:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6218:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6219:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6220:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6378:Arsi
|
UTSW |
18 |
61,049,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6612:Arsi
|
UTSW |
18 |
61,045,528 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6871:Arsi
|
UTSW |
18 |
61,049,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7813:Arsi
|
UTSW |
18 |
61,049,726 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7974:Arsi
|
UTSW |
18 |
61,045,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8035:Arsi
|
UTSW |
18 |
61,049,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9162:Arsi
|
UTSW |
18 |
61,050,569 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9200:Arsi
|
UTSW |
18 |
61,049,836 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9581:Arsi
|
UTSW |
18 |
61,050,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Arsi
|
UTSW |
18 |
61,049,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGAGGACGCAAGGGTACTTACTG -3'
(R):5'- ACTGATGTTAAAGAGCCACACAGCC -3'
Sequencing Primer
(F):5'- CAGGCGGTACTACATCAGCAG -3'
(R):5'- ACACAGCCTGGCGGATG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation