Incidental Mutation 'IGL03197:Slc15a3'
ID |
412881 |
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 # |
IGL03197
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
10819908-10835279 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to G
at 10832443 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025646
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025645]
[ENSMUST00000025646]
[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 null
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 null
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030J22Rik |
A |
G |
8: 117,698,541 (GRCm39) |
W189R |
probably damaging |
Het |
Abcb7 |
A |
T |
X: 103,327,797 (GRCm39) |
M704K |
possibly damaging |
Het |
Anp32e |
A |
G |
3: 95,844,364 (GRCm39) |
D71G |
probably damaging |
Het |
Asphd1 |
T |
C |
7: 126,545,298 (GRCm39) |
D353G |
probably damaging |
Het |
Baz2b |
T |
C |
2: 59,731,898 (GRCm39) |
K2047E |
possibly damaging |
Het |
Cyp2c39 |
G |
T |
19: 39,555,361 (GRCm39) |
V394F |
probably damaging |
Het |
Ddx43 |
G |
A |
9: 78,325,402 (GRCm39) |
M482I |
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,350,089 (GRCm39) |
V2348E |
probably damaging |
Het |
Fam135a |
A |
G |
1: 24,083,263 (GRCm39) |
F304L |
probably damaging |
Het |
Gabra3 |
A |
G |
X: 71,583,734 (GRCm39) |
I66T |
possibly damaging |
Het |
Irf4 |
A |
T |
13: 30,947,503 (GRCm39) |
|
probably benign |
Het |
Kif11 |
A |
G |
19: 37,395,475 (GRCm39) |
D578G |
probably benign |
Het |
Lrig1 |
A |
G |
6: 94,583,099 (GRCm39) |
S1006P |
probably benign |
Het |
Mfsd14a |
A |
C |
3: 116,430,012 (GRCm39) |
S307A |
probably benign |
Het |
Mill1 |
A |
G |
7: 17,998,590 (GRCm39) |
T267A |
probably benign |
Het |
Nfyc |
C |
A |
4: 120,630,958 (GRCm39) |
D62Y |
probably damaging |
Het |
Nin |
T |
C |
12: 70,073,584 (GRCm39) |
T1190A |
probably benign |
Het |
Nup42 |
T |
C |
5: 24,372,463 (GRCm39) |
S84P |
probably damaging |
Het |
Ociad1 |
T |
C |
5: 73,451,675 (GRCm39) |
S15P |
probably benign |
Het |
Or4c104 |
A |
T |
2: 88,586,545 (GRCm39) |
I158K |
probably damaging |
Het |
Or6c69c |
A |
T |
10: 129,910,548 (GRCm39) |
I90F |
probably damaging |
Het |
Or7g25 |
A |
G |
9: 19,160,098 (GRCm39) |
I199T |
probably benign |
Het |
Pcdhb11 |
T |
A |
18: 37,555,477 (GRCm39) |
L269* |
probably null |
Het |
Pigo |
A |
C |
4: 43,022,103 (GRCm39) |
M352R |
possibly damaging |
Het |
Plch1 |
T |
C |
3: 63,660,591 (GRCm39) |
M343V |
probably damaging |
Het |
Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
Prkag1 |
A |
G |
15: 98,713,058 (GRCm39) |
|
probably benign |
Het |
Rasa4 |
A |
G |
5: 136,130,866 (GRCm39) |
K379R |
probably damaging |
Het |
Rraga |
G |
A |
4: 86,494,513 (GRCm39) |
A120T |
probably damaging |
Het |
Serpina3a |
C |
T |
12: 104,082,500 (GRCm39) |
A91V |
probably damaging |
Het |
Sik2 |
T |
C |
9: 50,807,073 (GRCm39) |
E779G |
probably damaging |
Het |
Smc1b |
C |
T |
15: 84,955,064 (GRCm39) |
D1063N |
possibly damaging |
Het |
Speer1e |
T |
G |
5: 11,233,080 (GRCm39) |
N14K |
probably damaging |
Het |
Speer1k |
T |
A |
5: 11,000,501 (GRCm39) |
|
probably benign |
Het |
Srsf12 |
G |
A |
4: 33,231,040 (GRCm39) |
G183E |
probably damaging |
Het |
Taf8 |
A |
G |
17: 47,809,127 (GRCm39) |
S112P |
probably benign |
Het |
Trhde |
A |
G |
10: 114,249,213 (GRCm39) |
L851P |
probably benign |
Het |
Wapl |
G |
T |
14: 34,467,588 (GRCm39) |
V1182F |
possibly damaging |
Het |
Zfp326 |
A |
G |
5: 106,039,059 (GRCm39) |
I231V |
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 |
IGL01131:Slc15a3
|
APN |
19 |
10,834,986 (GRCm39) |
unclassified |
probably benign |
|
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 |
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 |
2016-08-02 |