Incidental Mutation 'IGL01131:Slc15a3'
ID |
53283 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc15a3
|
Ensembl Gene |
ENSMUSG00000024737 |
Gene Name |
solute carrier family 15, member 3 |
Synonyms |
Ci1, cI-1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01131
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
10819908-10835279 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to A
at 10834986 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113696
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025645]
[ENSMUST00000025646]
[ENSMUST00000120524]
|
AlphaFold |
Q8BPX9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025645
|
SMART Domains |
Protein: ENSMUSP00000025645 Gene: ENSMUSG00000024736
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:TMEM132D_N
|
44 |
167 |
1.6e-35 |
PFAM |
low complexity region
|
206 |
223 |
N/A |
INTRINSIC |
Pfam:TMEM132
|
403 |
745 |
4.1e-108 |
PFAM |
low complexity region
|
759 |
776 |
N/A |
INTRINSIC |
Pfam:TMEM132D_C
|
809 |
897 |
1.5e-31 |
PFAM |
low complexity region
|
906 |
923 |
N/A |
INTRINSIC |
low complexity region
|
932 |
944 |
N/A |
INTRINSIC |
low complexity region
|
960 |
976 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000025646
|
SMART Domains |
Protein: ENSMUSP00000025646 Gene: ENSMUSG00000024737
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
37 |
N/A |
INTRINSIC |
Pfam:MFS_1
|
38 |
508 |
3.4e-10 |
PFAM |
Pfam:PTR2
|
101 |
519 |
3.2e-79 |
PFAM |
transmembrane domain
|
538 |
557 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120524
|
SMART Domains |
Protein: ENSMUSP00000113696 Gene: ENSMUSG00000024736
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
low complexity region
|
206 |
223 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138263
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: The gene is involved in pathogen sensing by dendritic cells. Homozygous KO results in a reduction of the number of these cells displaying tubular endo-lysosomes after LPS treatment. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
Adgrf5 |
G |
T |
17: 43,733,400 (GRCm39) |
D75Y |
possibly damaging |
Het |
Cfap20 |
T |
C |
8: 96,151,287 (GRCm39) |
D18G |
probably damaging |
Het |
Cpne3 |
T |
C |
4: 19,543,318 (GRCm39) |
D160G |
probably damaging |
Het |
Ercc3 |
A |
G |
18: 32,402,942 (GRCm39) |
*784W |
probably null |
Het |
Fam53b |
T |
C |
7: 132,317,511 (GRCm39) |
E377G |
probably damaging |
Het |
Far2 |
T |
C |
6: 148,052,096 (GRCm39) |
V125A |
possibly damaging |
Het |
Fasn |
T |
C |
11: 120,705,445 (GRCm39) |
E1192G |
probably benign |
Het |
Irf5 |
A |
G |
6: 29,536,102 (GRCm39) |
E372G |
probably damaging |
Het |
Kif2c |
C |
T |
4: 117,029,562 (GRCm39) |
V140M |
probably damaging |
Het |
Klre1 |
T |
C |
6: 129,561,133 (GRCm39) |
F165L |
possibly damaging |
Het |
Kmt2a |
C |
T |
9: 44,732,467 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,329,583 (GRCm39) |
C1728Y |
probably damaging |
Het |
Muc4 |
C |
A |
16: 32,753,901 (GRCm38) |
T1259N |
possibly damaging |
Het |
Nlrp9b |
A |
G |
7: 19,757,462 (GRCm39) |
D233G |
probably damaging |
Het |
Nuf2 |
T |
C |
1: 169,349,933 (GRCm39) |
|
probably benign |
Het |
Nynrin |
A |
G |
14: 56,110,142 (GRCm39) |
K1750E |
probably damaging |
Het |
Or5b109 |
A |
G |
19: 13,212,103 (GRCm39) |
D163G |
probably benign |
Het |
Parp4 |
C |
A |
14: 56,823,217 (GRCm39) |
|
probably benign |
Het |
Rbms1 |
T |
C |
2: 60,589,180 (GRCm39) |
M287V |
probably benign |
Het |
Rhox3c |
G |
A |
X: 36,651,982 (GRCm39) |
R71K |
probably damaging |
Het |
Rufy1 |
A |
G |
11: 50,282,850 (GRCm39) |
L638P |
probably damaging |
Het |
Slc26a9 |
T |
C |
1: 131,683,280 (GRCm39) |
|
probably null |
Het |
Slc6a13 |
A |
G |
6: 121,298,600 (GRCm39) |
Y150C |
probably damaging |
Het |
Slitrk6 |
A |
T |
14: 110,989,008 (GRCm39) |
L233Q |
probably damaging |
Het |
Ugt3a1 |
T |
A |
15: 9,365,248 (GRCm39) |
I287N |
probably damaging |
Het |
Unc13c |
T |
C |
9: 73,471,335 (GRCm39) |
N1778S |
probably benign |
Het |
Vmn1r212 |
T |
C |
13: 23,067,329 (GRCm39) |
N335D |
unknown |
Het |
Wdfy1 |
C |
T |
1: 79,691,589 (GRCm39) |
V273I |
probably benign |
Het |
|
Other mutations in Slc15a3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00843:Slc15a3
|
APN |
19 |
10,830,627 (GRCm39) |
missense |
probably null |
0.60 |
IGL02098:Slc15a3
|
APN |
19 |
10,826,042 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02470:Slc15a3
|
APN |
19 |
10,830,534 (GRCm39) |
missense |
probably benign |
|
IGL03078:Slc15a3
|
APN |
19 |
10,834,609 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03197:Slc15a3
|
APN |
19 |
10,832,443 (GRCm39) |
critical splice donor site |
probably null |
|
R0019:Slc15a3
|
UTSW |
19 |
10,833,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R0055:Slc15a3
|
UTSW |
19 |
10,820,406 (GRCm39) |
nonsense |
probably null |
|
R0127:Slc15a3
|
UTSW |
19 |
10,833,350 (GRCm39) |
missense |
probably damaging |
0.99 |
R0133:Slc15a3
|
UTSW |
19 |
10,820,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R1079:Slc15a3
|
UTSW |
19 |
10,833,344 (GRCm39) |
missense |
probably benign |
0.02 |
R1595:Slc15a3
|
UTSW |
19 |
10,831,675 (GRCm39) |
missense |
probably benign |
|
R1644:Slc15a3
|
UTSW |
19 |
10,834,595 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1912:Slc15a3
|
UTSW |
19 |
10,825,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R2074:Slc15a3
|
UTSW |
19 |
10,834,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R2397:Slc15a3
|
UTSW |
19 |
10,820,407 (GRCm39) |
missense |
probably benign |
|
R4758:Slc15a3
|
UTSW |
19 |
10,831,726 (GRCm39) |
critical splice donor site |
probably null |
|
R4948:Slc15a3
|
UTSW |
19 |
10,820,410 (GRCm39) |
missense |
probably benign |
0.09 |
R5138:Slc15a3
|
UTSW |
19 |
10,833,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R5319:Slc15a3
|
UTSW |
19 |
10,833,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R5646:Slc15a3
|
UTSW |
19 |
10,820,574 (GRCm39) |
missense |
probably benign |
0.19 |
R6145:Slc15a3
|
UTSW |
19 |
10,834,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R6606:Slc15a3
|
UTSW |
19 |
10,826,046 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9038:Slc15a3
|
UTSW |
19 |
10,820,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R9075:Slc15a3
|
UTSW |
19 |
10,826,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R9639:Slc15a3
|
UTSW |
19 |
10,820,717 (GRCm39) |
nonsense |
probably null |
|
Z1176:Slc15a3
|
UTSW |
19 |
10,825,922 (GRCm39) |
missense |
probably null |
1.00 |
|
Posted On |
2013-06-21 |