Incidental Mutation 'IGL01543:Slc15a4'
ID |
90226 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc15a4
|
Ensembl Gene |
ENSMUSG00000029416 |
Gene Name |
solute carrier family 15, member 4 |
Synonyms |
C130069N12Rik, PTR4, PHT1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
IGL01543
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
127672728-127709961 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 127680830 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 396
(H396Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031367
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031367]
[ENSMUST00000152727]
[ENSMUST00000153832]
|
AlphaFold |
Q91W98 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031367
AA Change: H396Q
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000031367 Gene: ENSMUSG00000029416 AA Change: H396Q
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
29 |
N/A |
INTRINSIC |
Pfam:MFS_1
|
33 |
505 |
7.8e-13 |
PFAM |
Pfam:PTR2
|
96 |
519 |
3.6e-127 |
PFAM |
transmembrane domain
|
533 |
555 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124569
|
SMART Domains |
Protein: ENSMUSP00000121595 Gene: ENSMUSG00000029416
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
Pfam:PTR2
|
49 |
242 |
8.1e-56 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144603
|
SMART Domains |
Protein: ENSMUSP00000116420 Gene: ENSMUSG00000029416
Domain | Start | End | E-Value | Type |
Pfam:PTR2
|
7 |
127 |
2.2e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152727
|
SMART Domains |
Protein: ENSMUSP00000116529 Gene: ENSMUSG00000029416
Domain | Start | End | E-Value | Type |
Pfam:PTR2
|
1 |
81 |
3.9e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153832
|
SMART Domains |
Protein: ENSMUSP00000123116 Gene: ENSMUSG00000029416
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
29 |
N/A |
INTRINSIC |
low complexity region
|
32 |
43 |
N/A |
INTRINSIC |
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
Pfam:PTR2
|
96 |
292 |
5e-52 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000198486
AA Change: H105Q
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198727
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199810
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200212
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced mutation display abrogation of both Toll-like receptor (TLR)-induced type I IFN and proinflammatory cytokine production by plasmacytoid dendritic cells. Conventional dendritic cells respond normally to TLR ligands. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2 |
T |
C |
3: 59,932,097 (GRCm39) |
I204T |
probably benign |
Het |
Abhd16a |
T |
C |
17: 35,310,013 (GRCm39) |
S69P |
probably damaging |
Het |
Ampd1 |
C |
T |
3: 103,003,029 (GRCm39) |
T582I |
probably benign |
Het |
Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
Arid1a |
A |
T |
4: 133,409,033 (GRCm39) |
F1825I |
unknown |
Het |
Asxl1 |
G |
A |
2: 153,243,404 (GRCm39) |
G1318D |
probably benign |
Het |
B4galnt3 |
G |
A |
6: 120,186,273 (GRCm39) |
H807Y |
probably benign |
Het |
Bpifb5 |
G |
T |
2: 154,075,169 (GRCm39) |
V366F |
possibly damaging |
Het |
Caskin1 |
T |
C |
17: 24,723,522 (GRCm39) |
V770A |
probably benign |
Het |
Ccdc152 |
G |
A |
15: 3,327,606 (GRCm39) |
T57I |
possibly damaging |
Het |
Ccs |
T |
C |
19: 4,884,269 (GRCm39) |
E61G |
possibly damaging |
Het |
Chsy3 |
G |
A |
18: 59,543,472 (GRCm39) |
W870* |
probably null |
Het |
Col8a1 |
G |
A |
16: 57,448,097 (GRCm39) |
P471L |
unknown |
Het |
Cyp2j6 |
A |
C |
4: 96,414,161 (GRCm39) |
V368G |
possibly damaging |
Het |
Dnajc3 |
T |
C |
14: 119,198,274 (GRCm39) |
|
probably null |
Het |
Dpep3 |
A |
T |
8: 106,702,814 (GRCm39) |
M316K |
probably damaging |
Het |
Galntl5 |
A |
G |
5: 25,400,349 (GRCm39) |
E126G |
probably damaging |
Het |
Gli1 |
T |
C |
10: 127,168,347 (GRCm39) |
N502S |
probably damaging |
Het |
Hus1 |
A |
G |
11: 8,950,082 (GRCm39) |
L213P |
probably benign |
Het |
Hypk |
A |
G |
2: 121,287,776 (GRCm39) |
|
probably null |
Het |
Igkv4-59 |
T |
A |
6: 69,415,345 (GRCm39) |
Y70F |
probably damaging |
Het |
Impdh1 |
A |
C |
6: 29,203,377 (GRCm39) |
V14G |
probably damaging |
Het |
Kif26b |
A |
G |
1: 178,506,526 (GRCm39) |
M201V |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,295,250 (GRCm39) |
I5323T |
probably damaging |
Het |
Mmp16 |
C |
T |
4: 18,051,743 (GRCm39) |
A244V |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,932,943 (GRCm39) |
D5619G |
probably benign |
Het |
Or2ag20 |
T |
C |
7: 106,465,125 (GRCm39) |
S313P |
probably benign |
Het |
Pcdh7 |
T |
C |
5: 57,878,107 (GRCm39) |
V554A |
probably damaging |
Het |
Piezo2 |
T |
C |
18: 63,203,101 (GRCm39) |
E1513G |
probably damaging |
Het |
Rab6b |
A |
G |
9: 103,039,837 (GRCm39) |
D75G |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,790,501 (GRCm39) |
Y1435C |
probably damaging |
Het |
Scarf2 |
A |
G |
16: 17,620,413 (GRCm39) |
N81S |
probably damaging |
Het |
Six5 |
G |
A |
7: 18,830,272 (GRCm39) |
A300T |
possibly damaging |
Het |
Skap2 |
T |
A |
6: 51,989,375 (GRCm39) |
N3Y |
possibly damaging |
Het |
Skint6 |
A |
T |
4: 112,757,160 (GRCm39) |
S734T |
probably benign |
Het |
Slco6c1 |
A |
G |
1: 97,053,553 (GRCm39) |
M116T |
possibly damaging |
Het |
Slfn9 |
T |
C |
11: 82,878,775 (GRCm39) |
D118G |
probably benign |
Het |
Trim3 |
T |
C |
7: 105,262,520 (GRCm39) |
D546G |
probably damaging |
Het |
Trpa1 |
A |
G |
1: 14,970,300 (GRCm39) |
L362P |
probably damaging |
Het |
Vasn |
A |
G |
16: 4,467,756 (GRCm39) |
T568A |
possibly damaging |
Het |
Vwa5b2 |
A |
G |
16: 20,414,466 (GRCm39) |
M281V |
probably benign |
Het |
Wwp2 |
A |
G |
8: 108,210,000 (GRCm39) |
E126G |
probably damaging |
Het |
Zfp398 |
G |
A |
6: 47,842,997 (GRCm39) |
G350S |
probably damaging |
Het |
|
Other mutations in Slc15a4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01475:Slc15a4
|
APN |
5 |
127,679,024 (GRCm39) |
missense |
probably benign |
0.13 |
IGL01805:Slc15a4
|
APN |
5 |
127,685,900 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02958:Slc15a4
|
APN |
5 |
127,681,729 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03367:Slc15a4
|
APN |
5 |
127,679,005 (GRCm39) |
missense |
probably damaging |
1.00 |
bondage
|
UTSW |
5 |
127,681,600 (GRCm39) |
critical splice donor site |
probably null |
|
feeble
|
UTSW |
5 |
127,685,834 (GRCm39) |
unclassified |
probably benign |
|
R0018:Slc15a4
|
UTSW |
5 |
127,679,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R0018:Slc15a4
|
UTSW |
5 |
127,679,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R0838:Slc15a4
|
UTSW |
5 |
127,694,067 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1544:Slc15a4
|
UTSW |
5 |
127,680,832 (GRCm39) |
missense |
probably benign |
0.01 |
R1662:Slc15a4
|
UTSW |
5 |
127,686,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R2504:Slc15a4
|
UTSW |
5 |
127,694,303 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2843:Slc15a4
|
UTSW |
5 |
127,681,600 (GRCm39) |
critical splice donor site |
probably null |
|
R2845:Slc15a4
|
UTSW |
5 |
127,681,600 (GRCm39) |
critical splice donor site |
probably null |
|
R2846:Slc15a4
|
UTSW |
5 |
127,681,600 (GRCm39) |
critical splice donor site |
probably null |
|
R2900:Slc15a4
|
UTSW |
5 |
127,681,600 (GRCm39) |
critical splice donor site |
probably null |
|
R2971:Slc15a4
|
UTSW |
5 |
127,681,600 (GRCm39) |
critical splice donor site |
probably null |
|
R3018:Slc15a4
|
UTSW |
5 |
127,681,600 (GRCm39) |
critical splice donor site |
probably null |
|
R3020:Slc15a4
|
UTSW |
5 |
127,681,600 (GRCm39) |
critical splice donor site |
probably null |
|
R3021:Slc15a4
|
UTSW |
5 |
127,681,600 (GRCm39) |
critical splice donor site |
probably null |
|
R3027:Slc15a4
|
UTSW |
5 |
127,681,600 (GRCm39) |
critical splice donor site |
probably null |
|
R3053:Slc15a4
|
UTSW |
5 |
127,673,746 (GRCm39) |
missense |
possibly damaging |
0.83 |
R3155:Slc15a4
|
UTSW |
5 |
127,681,600 (GRCm39) |
critical splice donor site |
probably null |
|
R3432:Slc15a4
|
UTSW |
5 |
127,681,600 (GRCm39) |
critical splice donor site |
probably null |
|
R4356:Slc15a4
|
UTSW |
5 |
127,681,600 (GRCm39) |
critical splice donor site |
probably null |
|
R4357:Slc15a4
|
UTSW |
5 |
127,681,600 (GRCm39) |
critical splice donor site |
probably null |
|
R4359:Slc15a4
|
UTSW |
5 |
127,681,600 (GRCm39) |
critical splice donor site |
probably null |
|
R4448:Slc15a4
|
UTSW |
5 |
127,681,600 (GRCm39) |
critical splice donor site |
probably null |
|
R4449:Slc15a4
|
UTSW |
5 |
127,681,600 (GRCm39) |
critical splice donor site |
probably null |
|
R4450:Slc15a4
|
UTSW |
5 |
127,681,600 (GRCm39) |
critical splice donor site |
probably null |
|
R4514:Slc15a4
|
UTSW |
5 |
127,681,600 (GRCm39) |
critical splice donor site |
probably null |
|
R4544:Slc15a4
|
UTSW |
5 |
127,681,600 (GRCm39) |
critical splice donor site |
probably null |
|
R4546:Slc15a4
|
UTSW |
5 |
127,681,600 (GRCm39) |
critical splice donor site |
probably null |
|
R4952:Slc15a4
|
UTSW |
5 |
127,680,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R5278:Slc15a4
|
UTSW |
5 |
127,694,033 (GRCm39) |
missense |
probably damaging |
0.99 |
R6393:Slc15a4
|
UTSW |
5 |
127,693,950 (GRCm39) |
missense |
probably benign |
0.13 |
R6527:Slc15a4
|
UTSW |
5 |
127,673,773 (GRCm39) |
missense |
probably damaging |
1.00 |
R7409:Slc15a4
|
UTSW |
5 |
127,681,742 (GRCm39) |
missense |
probably benign |
0.04 |
R8223:Slc15a4
|
UTSW |
5 |
127,686,080 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8708:Slc15a4
|
UTSW |
5 |
127,673,715 (GRCm39) |
missense |
probably benign |
0.00 |
R8848:Slc15a4
|
UTSW |
5 |
127,679,021 (GRCm39) |
missense |
probably benign |
0.22 |
R9301:Slc15a4
|
UTSW |
5 |
127,673,812 (GRCm39) |
missense |
probably benign |
0.11 |
R9396:Slc15a4
|
UTSW |
5 |
127,694,463 (GRCm39) |
intron |
probably benign |
|
R9695:Slc15a4
|
UTSW |
5 |
127,694,400 (GRCm39) |
missense |
possibly damaging |
0.78 |
Z1177:Slc15a4
|
UTSW |
5 |
127,677,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-03 |