Incidental Mutation 'R1662:Slc15a4'
| ID |
186837 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc15a4
|
| Ensembl Gene |
ENSMUSG00000029416 |
| Gene Name |
solute carrier family 15, member 4 |
| Synonyms |
C130069N12Rik, PTR4, PHT1 |
| MMRRC Submission |
039698-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R1662 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
127672728-127709961 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127686043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 213
(L213S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031367]
[ENSMUST00000152727]
[ENSMUST00000153832]
[ENSMUST00000155321]
|
| AlphaFold |
Q91W98 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031367
AA Change: L213S
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031367
Gene: ENSMUSG00000029416
AA Change: L213S
| 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 damaging
Transcript: ENSMUST00000124569
AA Change: L165S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121595
Gene: ENSMUSG00000029416
AA Change: L165S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:PTR2
|
49 |
242 |
8.1e-56 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144603
AA Change: L43S
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000116420
Gene: ENSMUSG00000029416
AA Change: L43S
| 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 damaging
Transcript: ENSMUST00000153832
AA Change: L213S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123116
Gene: ENSMUSG00000029416
AA Change: L213S
| 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 |
possibly damaging
Transcript: ENSMUST00000155321
AA Change: L44S
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000117258
Gene: ENSMUSG00000029416
AA Change: L44S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTR2
|
7 |
105 |
1e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198486
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199810
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200212
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198727
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.3%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730409E04Rik |
T |
A |
4: 126,505,475 (GRCm39) |
M1K |
probably null |
Het |
| 5730507C01Rik |
A |
C |
12: 18,581,967 (GRCm39) |
R119S |
possibly damaging |
Het |
| Abca1 |
T |
A |
4: 53,090,251 (GRCm39) |
|
probably null |
Het |
| Aff1 |
G |
A |
5: 103,988,923 (GRCm39) |
G830D |
probably damaging |
Het |
| AI987944 |
T |
C |
7: 41,023,873 (GRCm39) |
T369A |
possibly damaging |
Het |
| Aoah |
A |
G |
13: 21,184,283 (GRCm39) |
|
probably null |
Het |
| Arhgap40 |
C |
G |
2: 158,381,190 (GRCm39) |
C349W |
probably damaging |
Het |
| Atic |
T |
A |
1: 71,615,286 (GRCm39) |
D438E |
probably benign |
Het |
| Barhl2 |
A |
T |
5: 106,601,365 (GRCm39) |
M338K |
probably benign |
Het |
| Btd |
T |
C |
14: 31,388,747 (GRCm39) |
V156A |
probably damaging |
Het |
| Catspere2 |
A |
G |
1: 177,874,552 (GRCm39) |
K140E |
unknown |
Het |
| Ccdc82 |
T |
C |
9: 13,262,397 (GRCm39) |
V319A |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,915,263 (GRCm39) |
N903K |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,389,968 (GRCm39) |
N1288I |
probably damaging |
Het |
| Ciao1 |
G |
A |
2: 127,086,857 (GRCm39) |
T252I |
probably benign |
Het |
| Cma2 |
T |
C |
14: 56,210,573 (GRCm39) |
C87R |
probably damaging |
Het |
| Cops7a |
T |
A |
6: 124,939,401 (GRCm39) |
R83W |
probably damaging |
Het |
| Cxcr6 |
A |
T |
9: 123,639,613 (GRCm39) |
M205L |
possibly damaging |
Het |
| Dcc |
A |
G |
18: 71,553,409 (GRCm39) |
L749P |
probably benign |
Het |
| Dync1i2 |
C |
T |
2: 71,081,323 (GRCm39) |
T484I |
possibly damaging |
Het |
| Epas1 |
A |
T |
17: 87,136,455 (GRCm39) |
K742N |
probably damaging |
Het |
| Evc2 |
A |
G |
5: 37,506,094 (GRCm39) |
T138A |
probably benign |
Het |
| F5 |
T |
C |
1: 164,035,457 (GRCm39) |
I1877T |
probably damaging |
Het |
| Fat1 |
T |
G |
8: 45,406,201 (GRCm39) |
V984G |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,034,928 (GRCm39) |
V2860D |
probably damaging |
Het |
| Foxn4 |
C |
T |
5: 114,394,955 (GRCm39) |
R324Q |
probably benign |
Het |
| Gapdhs |
C |
T |
7: 30,436,427 (GRCm39) |
R120H |
probably damaging |
Het |
| Gcnt3 |
T |
C |
9: 69,941,659 (GRCm39) |
D303G |
probably benign |
Het |
| Gng11 |
A |
T |
6: 4,008,066 (GRCm39) |
Y43F |
probably benign |
Het |
| Hectd4 |
A |
C |
5: 121,455,308 (GRCm39) |
M651L |
probably benign |
Het |
| Ifngr2 |
T |
A |
16: 91,357,484 (GRCm39) |
Y200N |
probably benign |
Het |
| Iqgap3 |
T |
C |
3: 88,005,708 (GRCm39) |
V512A |
probably benign |
Het |
| Kdm2a |
A |
C |
19: 4,378,240 (GRCm39) |
D187E |
probably damaging |
Het |
| Klhl8 |
A |
G |
5: 104,019,911 (GRCm39) |
V370A |
probably damaging |
Het |
| Kmt2a |
G |
A |
9: 44,747,967 (GRCm39) |
|
probably benign |
Het |
| Krt12 |
C |
A |
11: 99,311,650 (GRCm39) |
V184F |
probably benign |
Het |
| Lrrc8c |
A |
T |
5: 105,754,623 (GRCm39) |
I133F |
probably benign |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Map1a |
C |
G |
2: 121,136,889 (GRCm39) |
S2568R |
possibly damaging |
Het |
| Mbnl1 |
C |
A |
3: 60,532,593 (GRCm39) |
Q301K |
probably damaging |
Het |
| Med12l |
A |
T |
3: 59,001,038 (GRCm39) |
K724N |
probably damaging |
Het |
| Mroh2a |
A |
C |
1: 88,169,340 (GRCm39) |
I672L |
probably benign |
Het |
| Mybph |
C |
T |
1: 134,121,374 (GRCm39) |
P45S |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,392,527 (GRCm39) |
S2157T |
probably damaging |
Het |
| Or14j2 |
G |
T |
17: 37,886,164 (GRCm39) |
T50K |
probably damaging |
Het |
| Or1ab2 |
T |
C |
8: 72,863,623 (GRCm39) |
V71A |
probably benign |
Het |
| Or2t35 |
T |
A |
14: 14,407,880 (GRCm38) |
Y217* |
probably null |
Het |
| Or5h25 |
T |
C |
16: 58,930,967 (GRCm39) |
E2G |
probably benign |
Het |
| Otogl |
A |
G |
10: 107,634,218 (GRCm39) |
I1419T |
possibly damaging |
Het |
| Ovol1 |
A |
T |
19: 5,601,667 (GRCm39) |
F118L |
probably damaging |
Het |
| Pak5 |
T |
C |
2: 135,958,680 (GRCm39) |
D136G |
probably damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,223,250 (GRCm39) |
Y417C |
probably damaging |
Het |
| Ppp2r2a |
T |
C |
14: 67,254,052 (GRCm39) |
N372S |
probably benign |
Het |
| Prss30 |
G |
T |
17: 24,191,806 (GRCm39) |
N238K |
possibly damaging |
Het |
| Prss33 |
C |
A |
17: 24,053,785 (GRCm39) |
|
probably null |
Het |
| Ptpn4 |
T |
C |
1: 119,692,788 (GRCm39) |
E187G |
probably damaging |
Het |
| Ptprg |
A |
T |
14: 12,207,357 (GRCm38) |
N100I |
probably damaging |
Het |
| Rbpms2 |
T |
C |
9: 65,558,324 (GRCm39) |
V130A |
probably benign |
Het |
| Rdh7 |
A |
T |
10: 127,724,481 (GRCm39) |
M1K |
probably null |
Het |
| Rtp3 |
A |
C |
9: 110,815,751 (GRCm39) |
S205A |
probably benign |
Het |
| Ryr3 |
G |
T |
2: 112,539,618 (GRCm39) |
D3207E |
probably damaging |
Het |
| Scn9a |
T |
A |
2: 66,313,803 (GRCm39) |
T1972S |
probably benign |
Het |
| Scnn1b |
T |
C |
7: 121,501,551 (GRCm39) |
V122A |
probably benign |
Het |
| Slc27a5 |
T |
A |
7: 12,725,173 (GRCm39) |
I425F |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,864,442 (GRCm39) |
D530G |
probably benign |
Het |
| Tcf25 |
T |
A |
8: 124,108,289 (GRCm39) |
S115T |
probably benign |
Het |
| Tet2 |
A |
G |
3: 133,172,613 (GRCm39) |
L1883P |
possibly damaging |
Het |
| Trim21 |
T |
A |
7: 102,211,105 (GRCm39) |
R205* |
probably null |
Het |
| Ttc23 |
G |
T |
7: 67,375,069 (GRCm39) |
|
probably null |
Het |
| Tut7 |
T |
C |
13: 59,947,717 (GRCm39) |
E466G |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 115,959,499 (GRCm39) |
K658R |
probably null |
Het |
| Vmn1r43 |
A |
G |
6: 89,846,572 (GRCm39) |
F305L |
possibly damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,024,551 (GRCm39) |
C677S |
probably benign |
Het |
| Wnt5a |
T |
C |
14: 28,240,300 (GRCm39) |
M150T |
probably benign |
Het |
| Ythdc1 |
G |
A |
5: 86,975,981 (GRCm39) |
|
probably null |
Het |
| Zdbf2 |
A |
T |
1: 63,343,408 (GRCm39) |
R596* |
probably null |
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 |
|
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'- GAGCAAGGAGTTGTGTCACTCACC -3'
(R):5'- TGGCTTTTGTCAGGAGACTCGC -3'
Sequencing Primer
(F):5'- TCTCTGGGAGCAGCAACTG -3'
(R):5'- gagactcgctgaatctgtaaac -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation