Incidental Mutation 'IGL01805:Slc15a4'
ID |
155651 |
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 # |
IGL01805
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
127672728-127709961 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 127685900 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 261
(T261A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123116
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031367]
[ENSMUST00000152727]
[ENSMUST00000153832]
[ENSMUST00000155321]
|
AlphaFold |
Q91W98 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031367
AA Change: T261A
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000031367 Gene: ENSMUSG00000029416 AA Change: T261A
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 |
unknown
Transcript: ENSMUST00000124569
AA Change: T213A
|
SMART Domains |
Protein: ENSMUSP00000121595 Gene: ENSMUSG00000029416 AA Change: T213A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
Pfam:PTR2
|
49 |
242 |
8.1e-56 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000144603
AA Change: T91A
|
SMART Domains |
Protein: ENSMUSP00000116420 Gene: ENSMUSG00000029416 AA Change: T91A
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 |
possibly damaging
Transcript: ENSMUST00000153832
AA Change: T261A
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000123116 Gene: ENSMUSG00000029416 AA Change: T261A
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 |
probably benign
Transcript: ENSMUST00000155321
AA Change: T92A
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000117258 Gene: ENSMUSG00000029416 AA Change: T92A
Domain | Start | End | E-Value | Type |
Pfam:PTR2
|
7 |
105 |
1e-31 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198727
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200212
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199810
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198486
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019D03Rik |
T |
C |
1: 52,964,677 (GRCm39) |
D17G |
possibly damaging |
Het |
Adam28 |
G |
T |
14: 68,879,540 (GRCm39) |
S169R |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,120,672 (GRCm39) |
M855T |
possibly damaging |
Het |
Apc |
C |
A |
18: 34,451,271 (GRCm39) |
N2688K |
probably benign |
Het |
Arhgap23 |
T |
A |
11: 97,383,428 (GRCm39) |
|
probably benign |
Het |
Bpifa6 |
A |
G |
2: 153,826,832 (GRCm39) |
T66A |
probably benign |
Het |
C1qtnf1 |
T |
A |
11: 118,338,993 (GRCm39) |
L221Q |
probably damaging |
Het |
Ccdc175 |
T |
A |
12: 72,176,003 (GRCm39) |
|
probably benign |
Het |
Ccl1 |
C |
A |
11: 82,068,958 (GRCm39) |
M26I |
possibly damaging |
Het |
Dnah10 |
T |
A |
5: 124,860,985 (GRCm39) |
F2123I |
probably damaging |
Het |
Fancm |
T |
C |
12: 65,160,635 (GRCm39) |
|
probably null |
Het |
Fstl4 |
C |
A |
11: 53,077,184 (GRCm39) |
A647E |
probably damaging |
Het |
Hmgb4 |
G |
T |
4: 128,154,015 (GRCm39) |
|
probably benign |
Het |
Hr |
A |
T |
14: 70,802,737 (GRCm39) |
|
probably benign |
Het |
Ilrun |
C |
T |
17: 27,986,880 (GRCm39) |
|
probably benign |
Het |
Kcna4 |
G |
T |
2: 107,126,843 (GRCm39) |
V526L |
probably damaging |
Het |
Mas1 |
T |
C |
17: 13,061,117 (GRCm39) |
Y102C |
probably damaging |
Het |
Mucl3 |
T |
A |
17: 35,948,535 (GRCm39) |
T355S |
possibly damaging |
Het |
Mul1 |
C |
T |
4: 138,166,974 (GRCm39) |
P343S |
possibly damaging |
Het |
Obscn |
T |
C |
11: 59,023,422 (GRCm39) |
S652G |
probably damaging |
Het |
Or8g55 |
T |
C |
9: 39,785,075 (GRCm39) |
F168S |
probably damaging |
Het |
Pjvk |
A |
T |
2: 76,487,858 (GRCm39) |
N250I |
probably benign |
Het |
Pkd2 |
T |
C |
5: 104,630,959 (GRCm39) |
I461T |
probably benign |
Het |
Psen2 |
T |
C |
1: 180,057,403 (GRCm39) |
|
probably null |
Het |
Ralb |
T |
C |
1: 119,403,725 (GRCm39) |
E81G |
probably benign |
Het |
Vmn2r77 |
G |
A |
7: 86,460,395 (GRCm39) |
V574M |
probably benign |
Het |
Xrn2 |
A |
G |
2: 146,870,063 (GRCm39) |
I251V |
probably damaging |
Het |
Zfp974 |
G |
A |
7: 27,611,689 (GRCm39) |
|
probably benign |
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 |
IGL01543:Slc15a4
|
APN |
5 |
127,680,830 (GRCm39) |
missense |
probably benign |
0.12 |
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 |
2014-02-04 |