Incidental Mutation 'IGL03367:Slc15a4'
| ID |
420138 |
| 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 # |
IGL03367
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
127672728-127709961 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127679005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 445
(Y445C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031367]
[ENSMUST00000152727]
[ENSMUST00000153832]
|
| AlphaFold |
Q91W98 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031367
AA Change: Y445C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031367
Gene: ENSMUSG00000029416
AA Change: Y445C
| 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 |
probably benign
Transcript: ENSMUST00000198486
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198727
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200212
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199810
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
T |
16: 20,211,561 (GRCm39) |
|
probably benign |
Het |
| Adra1a |
G |
A |
14: 66,875,438 (GRCm39) |
V138I |
possibly damaging |
Het |
| Alpk3 |
A |
G |
7: 80,744,738 (GRCm39) |
I1278V |
probably benign |
Het |
| Asb6 |
A |
T |
2: 30,714,691 (GRCm39) |
I185N |
possibly damaging |
Het |
| Atg9a |
A |
G |
1: 75,164,601 (GRCm39) |
V121A |
probably benign |
Het |
| Cdc42bpb |
A |
G |
12: 111,302,593 (GRCm39) |
Y155H |
probably damaging |
Het |
| Ceacam15 |
A |
C |
7: 16,409,512 (GRCm39) |
S8A |
possibly damaging |
Het |
| Cep170b |
T |
A |
12: 112,703,672 (GRCm39) |
D615E |
probably benign |
Het |
| Cntn6 |
G |
T |
6: 104,781,299 (GRCm39) |
G462C |
probably damaging |
Het |
| Col8a2 |
A |
G |
4: 126,205,991 (GRCm39) |
D667G |
probably damaging |
Het |
| Cyp2c29 |
A |
G |
19: 39,317,659 (GRCm39) |
K382E |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,868,030 (GRCm39) |
|
probably null |
Het |
| Dkk2 |
C |
T |
3: 131,883,838 (GRCm39) |
T246I |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,234,473 (GRCm39) |
L294P |
possibly damaging |
Het |
| Erbb2 |
G |
T |
11: 98,313,701 (GRCm39) |
|
probably null |
Het |
| Fn1 |
A |
G |
1: 71,636,712 (GRCm39) |
F2147L |
probably benign |
Het |
| Gm11149 |
G |
A |
9: 49,457,646 (GRCm39) |
|
probably benign |
Het |
| Gnrhr |
C |
T |
5: 86,330,190 (GRCm39) |
V277I |
probably benign |
Het |
| H2-T10 |
T |
A |
17: 36,431,285 (GRCm39) |
E129V |
possibly damaging |
Het |
| Hmgcr |
T |
C |
13: 96,802,361 (GRCm39) |
T108A |
probably damaging |
Het |
| Hnrnph3 |
A |
T |
10: 62,853,008 (GRCm39) |
I196N |
probably damaging |
Het |
| Insyn1 |
A |
G |
9: 58,406,381 (GRCm39) |
H97R |
probably damaging |
Het |
| Kcnq5 |
T |
C |
1: 21,473,289 (GRCm39) |
K653E |
probably damaging |
Het |
| Lgi2 |
C |
A |
5: 52,719,502 (GRCm39) |
D100Y |
probably damaging |
Het |
| Mettl15 |
T |
A |
2: 108,961,916 (GRCm39) |
H231L |
probably benign |
Het |
| Mthfd1l |
A |
G |
10: 4,056,536 (GRCm39) |
|
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,242,120 (GRCm39) |
S997P |
probably benign |
Het |
| Pla2g1b |
T |
C |
5: 115,610,173 (GRCm39) |
C105R |
probably damaging |
Het |
| Ppil1 |
A |
T |
17: 29,471,218 (GRCm39) |
|
probably benign |
Het |
| Pramel22 |
C |
T |
4: 143,382,193 (GRCm39) |
V168I |
possibly damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,854,776 (GRCm39) |
T334A |
probably benign |
Het |
| Sox14 |
A |
C |
9: 99,757,715 (GRCm39) |
I8S |
probably damaging |
Het |
| Spice1 |
A |
G |
16: 44,176,541 (GRCm39) |
T44A |
probably damaging |
Het |
| Sult3a1 |
G |
T |
10: 33,753,342 (GRCm39) |
V213L |
probably benign |
Het |
| Vkorc1l1 |
C |
A |
5: 130,011,148 (GRCm39) |
Y111* |
probably null |
Het |
| Wdr47 |
G |
T |
3: 108,537,089 (GRCm39) |
|
probably benign |
Het |
| Wdr90 |
A |
G |
17: 26,066,765 (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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation