Incidental Mutation 'R6527:Slc15a4'
ID |
521958 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc15a4
|
Ensembl Gene |
ENSMUSG00000029416 |
Gene Name |
solute carrier family 15, member 4 |
Synonyms |
C130069N12Rik, PTR4, PHT1 |
MMRRC Submission |
044653-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R6527 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
127672728-127709961 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 127673773 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 547
(T547M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031367
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031367]
[ENSMUST00000153832]
|
AlphaFold |
Q91W98 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031367
AA Change: T547M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000031367 Gene: ENSMUSG00000029416 AA Change: T547M
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: 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: T151M
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,773,288 (GRCm39) |
T826A |
probably damaging |
Het |
Abca16 |
T |
A |
7: 120,076,995 (GRCm39) |
I686N |
possibly damaging |
Het |
Abcb6 |
T |
C |
1: 75,154,132 (GRCm39) |
|
probably null |
Het |
Adgrl3 |
A |
C |
5: 81,935,364 (GRCm39) |
E1299A |
probably damaging |
Het |
Amd2 |
A |
C |
10: 35,586,802 (GRCm39) |
Y252D |
probably damaging |
Het |
Cfap74 |
A |
G |
4: 155,506,722 (GRCm39) |
|
probably null |
Het |
Dhx29 |
G |
T |
13: 113,069,076 (GRCm39) |
K135N |
probably damaging |
Het |
Dlg5 |
T |
A |
14: 24,240,516 (GRCm39) |
D245V |
possibly damaging |
Het |
Dscaml1 |
C |
T |
9: 45,623,482 (GRCm39) |
Q83* |
probably null |
Het |
Dsp |
T |
A |
13: 38,379,849 (GRCm39) |
L1599Q |
probably damaging |
Het |
Duox2 |
A |
G |
2: 122,125,095 (GRCm39) |
V369A |
probably benign |
Het |
Flacc1 |
T |
C |
1: 58,731,572 (GRCm39) |
M1V |
probably null |
Het |
Gbe1 |
T |
A |
16: 70,230,560 (GRCm39) |
|
probably null |
Het |
Gm7298 |
A |
G |
6: 121,746,669 (GRCm39) |
K600R |
probably benign |
Het |
Heatr4 |
C |
T |
12: 84,026,537 (GRCm39) |
G240E |
probably damaging |
Het |
Jakmip2 |
A |
G |
18: 43,689,589 (GRCm39) |
V651A |
possibly damaging |
Het |
Jam3 |
C |
T |
9: 27,066,640 (GRCm39) |
R8Q |
unknown |
Het |
Letm2 |
A |
G |
8: 26,082,522 (GRCm39) |
|
probably benign |
Het |
Lmod3 |
T |
C |
6: 97,224,339 (GRCm39) |
D494G |
probably benign |
Het |
Mast2 |
T |
C |
4: 116,172,136 (GRCm39) |
D604G |
probably damaging |
Het |
Mif4gd |
C |
T |
11: 115,500,101 (GRCm39) |
|
probably null |
Het |
Msr1 |
T |
C |
8: 40,077,274 (GRCm39) |
E112G |
possibly damaging |
Het |
Mtus2 |
A |
G |
5: 148,214,408 (GRCm39) |
|
probably null |
Het |
Muc4 |
A |
G |
16: 32,753,433 (GRCm38) |
H1103R |
probably benign |
Het |
Nudt14 |
T |
A |
12: 112,898,507 (GRCm39) |
I198F |
possibly damaging |
Het |
Or11j4 |
T |
A |
14: 50,630,885 (GRCm39) |
L224* |
probably null |
Het |
Or13p3 |
T |
A |
4: 118,567,045 (GRCm39) |
F147Y |
possibly damaging |
Het |
Or1n1b |
T |
C |
2: 36,780,594 (GRCm39) |
T89A |
probably benign |
Het |
Osbpl8 |
T |
C |
10: 111,129,066 (GRCm39) |
I884T |
probably benign |
Het |
Podxl2 |
T |
C |
6: 88,819,912 (GRCm39) |
N550S |
probably damaging |
Het |
Ppp1r9a |
A |
G |
6: 5,045,949 (GRCm39) |
Y151C |
probably damaging |
Het |
Prss42 |
T |
C |
9: 110,629,924 (GRCm39) |
V226A |
possibly damaging |
Het |
Psmd12 |
A |
G |
11: 107,379,794 (GRCm39) |
I116V |
probably damaging |
Het |
Psme4 |
A |
C |
11: 30,782,175 (GRCm39) |
I872L |
probably benign |
Het |
Rab11fip1 |
A |
T |
8: 27,664,420 (GRCm39) |
V65E |
probably damaging |
Het |
Ros1 |
T |
C |
10: 52,019,473 (GRCm39) |
N700S |
possibly damaging |
Het |
Slfn3 |
T |
A |
11: 83,103,932 (GRCm39) |
C268S |
probably benign |
Het |
Smc5 |
T |
C |
19: 23,205,554 (GRCm39) |
Q794R |
probably benign |
Het |
Sqor |
A |
G |
2: 122,651,206 (GRCm39) |
Y434C |
probably damaging |
Het |
Steap4 |
T |
A |
5: 8,028,502 (GRCm39) |
L360H |
probably damaging |
Het |
Sycp1 |
A |
G |
3: 102,806,203 (GRCm39) |
V496A |
probably benign |
Het |
Tmem161b |
T |
G |
13: 84,420,383 (GRCm39) |
M128R |
probably benign |
Het |
Tmem59l |
T |
C |
8: 70,938,775 (GRCm39) |
E102G |
probably damaging |
Het |
Tnks |
A |
T |
8: 35,340,247 (GRCm39) |
V457D |
probably benign |
Het |
Tomt |
A |
G |
7: 101,549,599 (GRCm39) |
Y230H |
probably damaging |
Het |
Trim37 |
A |
G |
11: 87,080,910 (GRCm39) |
N561D |
probably damaging |
Het |
V1ra8 |
T |
A |
6: 90,180,295 (GRCm39) |
I166K |
probably damaging |
Het |
Vmn1r56 |
A |
G |
7: 5,199,575 (GRCm39) |
V14A |
probably benign |
Het |
Vsig8 |
T |
C |
1: 172,387,925 (GRCm39) |
V5A |
possibly damaging |
Het |
Vwa8 |
A |
T |
14: 79,184,653 (GRCm39) |
S384C |
possibly damaging |
Het |
Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
Zfp984 |
T |
C |
4: 147,840,381 (GRCm39) |
N157D |
probably benign |
Het |
Zzef1 |
G |
A |
11: 72,765,816 (GRCm39) |
D1448N |
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 |
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 |
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'- CAATCTAGCCTCAGTCTGCTTG -3'
(R):5'- TTCCTCCGAGTCAGAGCTAG -3'
Sequencing Primer
(F):5'- TCAGTCTGCTTGCTGGC -3'
(R):5'- GGGACACCTGCCTTCTCAC -3'
|
Posted On |
2018-06-06 |