Incidental Mutation 'R0838:Slc15a4'
| ID |
78035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc15a4
|
| Ensembl Gene |
ENSMUSG00000029416 |
| Gene Name |
solute carrier family 15, member 4 |
| Synonyms |
C130069N12Rik, PTR4, PHT1 |
| MMRRC Submission |
039017-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R0838 (G1)
|
| Quality Score |
108 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
127672728-127709961 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127694067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 123
(S123P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031367]
[ENSMUST00000153832]
[ENSMUST00000155321]
|
| AlphaFold |
Q91W98 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031367
AA Change: S123P
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000031367
Gene: ENSMUSG00000029416
AA Change: S123P
| 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: S75P
|
| SMART Domains |
Protein: ENSMUSP00000121595
Gene: ENSMUSG00000029416
AA Change: S75P
| 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 |
possibly damaging
Transcript: ENSMUST00000153832
AA Change: S123P
PolyPhen 2
Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123116
Gene: ENSMUSG00000029416
AA Change: S123P
| 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
|
| SMART Domains |
Protein: ENSMUSP00000117258
Gene: ENSMUSG00000029416
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTR2
|
7 |
105 |
1e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182841
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196415
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198727
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.3%
|
| Validation Efficiency |
100% (56/56) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
T |
A |
7: 130,963,535 (GRCm39) |
M53L |
probably damaging |
Het |
| Adamts6 |
A |
G |
13: 104,550,297 (GRCm39) |
N638D |
possibly damaging |
Het |
| Amy2b |
T |
C |
3: 113,058,317 (GRCm39) |
|
noncoding transcript |
Het |
| Ap5s1 |
G |
A |
2: 131,053,351 (GRCm39) |
R45K |
probably damaging |
Het |
| Arap1 |
T |
C |
7: 101,049,619 (GRCm39) |
Y994H |
probably damaging |
Het |
| Arrdc3 |
A |
T |
13: 81,037,366 (GRCm39) |
|
probably benign |
Het |
| Bard1 |
G |
A |
1: 71,069,812 (GRCm39) |
T722M |
probably damaging |
Het |
| Ccdc88a |
A |
G |
11: 29,350,285 (GRCm39) |
Y89C |
probably damaging |
Het |
| Cd96 |
A |
G |
16: 45,938,289 (GRCm39) |
S59P |
probably damaging |
Het |
| Chit1 |
T |
A |
1: 134,071,075 (GRCm39) |
C51* |
probably null |
Het |
| Cilp2 |
G |
T |
8: 70,334,369 (GRCm39) |
H876Q |
probably benign |
Het |
| Cyld |
A |
G |
8: 89,467,978 (GRCm39) |
E722G |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dedd2 |
T |
C |
7: 24,910,612 (GRCm39) |
E188G |
probably benign |
Het |
| Dnah17 |
A |
T |
11: 117,950,930 (GRCm39) |
W2898R |
probably damaging |
Het |
| Dpy19l1 |
T |
C |
9: 24,343,727 (GRCm39) |
T473A |
probably damaging |
Het |
| Fam228a |
T |
A |
12: 4,785,002 (GRCm39) |
H43L |
possibly damaging |
Het |
| Fkbp15 |
G |
T |
4: 62,242,363 (GRCm39) |
H530N |
probably damaging |
Het |
| Gga1 |
C |
T |
15: 78,776,118 (GRCm39) |
S387L |
probably damaging |
Het |
| Gm4868 |
A |
G |
5: 125,925,687 (GRCm39) |
|
noncoding transcript |
Het |
| Guk1 |
G |
A |
11: 59,075,921 (GRCm39) |
R146C |
probably damaging |
Het |
| Itgb4 |
A |
C |
11: 115,888,988 (GRCm39) |
|
probably benign |
Het |
| Jag1 |
G |
A |
2: 136,935,198 (GRCm39) |
T388I |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 192,095,514 (GRCm39) |
D551G |
probably damaging |
Het |
| Lrp2bp |
A |
G |
8: 46,478,161 (GRCm39) |
D270G |
possibly damaging |
Het |
| Map3k19 |
C |
A |
1: 127,751,696 (GRCm39) |
V552F |
probably benign |
Het |
| Mixl1 |
A |
T |
1: 180,524,365 (GRCm39) |
D71E |
probably benign |
Het |
| Myocd |
A |
G |
11: 65,069,758 (GRCm39) |
I694T |
probably benign |
Het |
| Nadk2 |
T |
A |
15: 9,091,322 (GRCm39) |
S198T |
probably benign |
Het |
| Npepps |
A |
T |
11: 97,158,518 (GRCm39) |
|
probably benign |
Het |
| Nt5c1b |
C |
T |
12: 10,425,071 (GRCm39) |
Q206* |
probably null |
Het |
| Or51b17 |
T |
A |
7: 103,542,622 (GRCm39) |
I107F |
probably benign |
Het |
| Orm1 |
A |
G |
4: 63,263,394 (GRCm39) |
Y69C |
probably damaging |
Het |
| Plscr4 |
T |
A |
9: 92,353,813 (GRCm39) |
|
probably benign |
Het |
| Pon1 |
G |
A |
6: 5,175,758 (GRCm39) |
T188I |
possibly damaging |
Het |
| Ppm1a |
T |
A |
12: 72,831,094 (GRCm39) |
H206Q |
probably benign |
Het |
| Prl8a1 |
G |
A |
13: 27,758,008 (GRCm39) |
R234C |
probably damaging |
Het |
| Rfx3 |
C |
T |
19: 27,827,367 (GRCm39) |
R73Q |
possibly damaging |
Het |
| Rims2 |
T |
C |
15: 39,544,421 (GRCm39) |
V1466A |
probably benign |
Het |
| Sec24d |
T |
A |
3: 123,099,485 (GRCm39) |
F319L |
probably benign |
Het |
| Slc1a6 |
A |
T |
10: 78,632,056 (GRCm39) |
D294V |
probably damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,736,083 (GRCm39) |
D38E |
probably benign |
Het |
| Spata31d1e |
A |
G |
13: 59,890,282 (GRCm39) |
S513P |
possibly damaging |
Het |
| Stard3nl |
A |
G |
13: 19,556,756 (GRCm39) |
|
probably null |
Het |
| Stard9 |
A |
G |
2: 120,531,323 (GRCm39) |
T2527A |
probably damaging |
Het |
| Sult3a1 |
C |
T |
10: 33,755,284 (GRCm39) |
P283L |
probably damaging |
Het |
| Tgtp1 |
A |
G |
11: 48,877,970 (GRCm39) |
V245A |
probably benign |
Het |
| Txndc16 |
T |
C |
14: 45,402,876 (GRCm39) |
|
probably benign |
Het |
| Zdhhc8 |
A |
G |
16: 18,042,430 (GRCm39) |
L590S |
probably damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,111,220 (GRCm39) |
C637S |
possibly damaging |
Het |
| Zfp366 |
A |
G |
13: 99,365,118 (GRCm39) |
E93G |
possibly damaging |
Het |
| Zfp69 |
T |
C |
4: 120,788,478 (GRCm39) |
N279S |
probably benign |
Het |
| Zscan10 |
T |
C |
17: 23,829,008 (GRCm39) |
S407P |
possibly 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 |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATACACAGGCTACCGTGCCAG -3'
(R):5'- TGGGCTACCGAGTCCTCAGTGAAC -3'
Sequencing Primer
(F):5'- TAAAGTCAACGCTTAGGTTCGG -3'
(R):5'- GCCAACCTGGTGCTGTTC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation