Incidental Mutation 'R8223:Slc15a4'
| ID |
636815 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc15a4
|
| Ensembl Gene |
ENSMUSG00000029416 |
| Gene Name |
solute carrier family 15, member 4 |
| Synonyms |
C130069N12Rik, PTR4, PHT1 |
| MMRRC Submission |
067641-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R8223 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
127672728-127709961 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127686080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 201
(F201L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031367]
[ENSMUST00000152727]
[ENSMUST00000153832]
[ENSMUST00000155321]
|
| AlphaFold |
Q91W98 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031367
AA Change: F201L
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000031367
Gene: ENSMUSG00000029416
AA Change: F201L
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000121595
Gene: ENSMUSG00000029416
AA Change: F153L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:PTR2
|
49 |
242 |
8.1e-56 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000116420
Gene: ENSMUSG00000029416
AA Change: F31L
| 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: F201L
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123116
Gene: ENSMUSG00000029416
AA Change: F201L
| 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 damaging
Transcript: ENSMUST00000155321
AA Change: F32L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117258
Gene: ENSMUSG00000029416
AA Change: F32L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTR2
|
7 |
105 |
1e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198486
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.2%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
T |
A |
17: 57,668,692 (GRCm39) |
W18R |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,620,222 (GRCm39) |
Y2417* |
probably null |
Het |
| Apold1 |
T |
A |
6: 134,961,148 (GRCm39) |
S201T |
probably benign |
Het |
| Arhgap31 |
G |
A |
16: 38,424,084 (GRCm39) |
P661S |
probably benign |
Het |
| Cacfd1 |
T |
C |
2: 26,908,396 (GRCm39) |
V110A |
possibly damaging |
Het |
| Capn2 |
A |
G |
1: 182,310,099 (GRCm39) |
|
probably null |
Het |
| Chadl |
T |
C |
15: 81,579,335 (GRCm39) |
E98G |
possibly damaging |
Het |
| Crxos |
T |
C |
7: 15,631,394 (GRCm39) |
Y31H |
probably benign |
Het |
| Cyp4f14 |
A |
C |
17: 33,130,627 (GRCm39) |
|
probably null |
Het |
| Cyp4f39 |
T |
C |
17: 32,689,839 (GRCm39) |
I95T |
probably benign |
Het |
| Dars1 |
T |
C |
1: 128,299,961 (GRCm39) |
E341G |
probably benign |
Het |
| Dchs1 |
G |
T |
7: 105,411,824 (GRCm39) |
R1431S |
possibly damaging |
Het |
| Dop1a |
T |
A |
9: 86,400,345 (GRCm39) |
H1001Q |
probably damaging |
Het |
| Efemp1 |
T |
C |
11: 28,804,528 (GRCm39) |
Y19H |
probably benign |
Het |
| Eml1 |
T |
G |
12: 108,502,569 (GRCm39) |
F726V |
probably benign |
Het |
| Fdx1 |
A |
T |
9: 51,859,921 (GRCm39) |
D136E |
probably benign |
Het |
| Ganab |
A |
T |
19: 8,888,192 (GRCm39) |
D446V |
probably damaging |
Het |
| Gusb |
A |
G |
5: 130,018,953 (GRCm39) |
V561A |
probably benign |
Het |
| Hcn1 |
A |
T |
13: 118,010,406 (GRCm39) |
D328V |
unknown |
Het |
| Hdgfl1 |
A |
G |
13: 26,954,047 (GRCm39) |
Y9H |
probably damaging |
Het |
| Hes3 |
T |
A |
4: 152,371,572 (GRCm39) |
S101C |
probably damaging |
Het |
| Igkv2-112 |
T |
C |
6: 68,197,579 (GRCm39) |
S84P |
probably benign |
Het |
| Ints9 |
C |
T |
14: 65,257,809 (GRCm39) |
P330S |
possibly damaging |
Het |
| Kdm7a |
A |
T |
6: 39,126,235 (GRCm39) |
N583K |
probably damaging |
Het |
| Klhl10 |
C |
T |
11: 100,338,227 (GRCm39) |
T322M |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,529,216 (GRCm39) |
V1545D |
possibly damaging |
Het |
| Laptm5 |
T |
C |
4: 130,653,511 (GRCm39) |
|
probably null |
Het |
| Ldlr |
A |
G |
9: 21,658,546 (GRCm39) |
T833A |
probably damaging |
Het |
| Llgl1 |
G |
T |
11: 60,593,648 (GRCm39) |
L40F |
possibly damaging |
Het |
| Lrrc14 |
T |
C |
15: 76,598,756 (GRCm39) |
L464S |
probably damaging |
Het |
| Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
| Lysmd3 |
T |
A |
13: 81,817,386 (GRCm39) |
L121H |
|
Het |
| Map2 |
T |
C |
1: 66,464,649 (GRCm39) |
S1680P |
probably damaging |
Het |
| Med12l |
T |
C |
3: 58,993,784 (GRCm39) |
V583A |
possibly damaging |
Het |
| Mfsd4b5 |
A |
G |
10: 39,846,246 (GRCm39) |
Y445H |
probably damaging |
Het |
| Morf4l1 |
G |
A |
9: 89,979,475 (GRCm39) |
P169S |
probably benign |
Het |
| Nab2 |
C |
A |
10: 127,498,645 (GRCm39) |
V475L |
probably benign |
Het |
| Ola1 |
A |
G |
2: 72,929,694 (GRCm39) |
L303P |
probably damaging |
Het |
| Or1j19 |
T |
A |
2: 36,677,409 (GRCm39) |
Y291N |
|
Het |
| Or1o2 |
T |
C |
17: 37,542,727 (GRCm39) |
D178G |
possibly damaging |
Het |
| Or7e166 |
T |
C |
9: 19,624,705 (GRCm39) |
I194T |
probably benign |
Het |
| Or9i2 |
G |
T |
19: 13,816,225 (GRCm39) |
T104K |
probably damaging |
Het |
| Pdlim3 |
A |
T |
8: 46,353,562 (GRCm39) |
H99L |
possibly damaging |
Het |
| Plagl2 |
G |
T |
2: 153,073,461 (GRCm39) |
T480N |
probably benign |
Het |
| Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,535,499 (GRCm39) |
R422Q |
probably benign |
Het |
| Rad18 |
T |
A |
6: 112,664,982 (GRCm39) |
R51* |
probably null |
Het |
| Rpap3 |
T |
A |
15: 97,589,185 (GRCm39) |
T250S |
probably benign |
Het |
| Serpinb11 |
T |
C |
1: 107,305,262 (GRCm39) |
Y213H |
probably benign |
Het |
| Slc25a4 |
A |
G |
8: 46,663,896 (GRCm39) |
S22P |
probably damaging |
Het |
| Slfn1 |
T |
A |
11: 83,012,245 (GRCm39) |
N120K |
probably damaging |
Het |
| Smok3c |
T |
C |
5: 138,063,655 (GRCm39) |
S381P |
probably benign |
Het |
| Sry |
T |
A |
Y: 2,663,204 (GRCm39) |
Q152L |
unknown |
Het |
| Taar2 |
T |
A |
10: 23,817,248 (GRCm39) |
W263R |
probably damaging |
Het |
| Thnsl1 |
T |
A |
2: 21,216,924 (GRCm39) |
V226E |
probably benign |
Het |
| Tmeff2 |
T |
C |
1: 51,172,279 (GRCm39) |
|
probably null |
Het |
| Tox |
A |
G |
4: 6,842,408 (GRCm39) |
Y41H |
probably damaging |
Het |
| Trank1 |
T |
A |
9: 111,194,957 (GRCm39) |
Y994N |
probably damaging |
Het |
| Trim9 |
C |
T |
12: 70,297,789 (GRCm39) |
A713T |
probably damaging |
Het |
| Tub |
T |
A |
7: 108,628,533 (GRCm39) |
M393K |
probably benign |
Het |
| Ube4a |
A |
G |
9: 44,871,333 (GRCm39) |
L22P |
possibly damaging |
Het |
| Usp47 |
A |
G |
7: 111,703,583 (GRCm39) |
K1165R |
probably damaging |
Het |
| Usp6nl |
T |
A |
2: 6,435,327 (GRCm39) |
I362K |
probably damaging |
Het |
| Vmn1r217 |
T |
C |
13: 23,298,369 (GRCm39) |
I178V |
probably benign |
Het |
| Vmn1r45 |
T |
A |
6: 89,910,074 (GRCm39) |
T299S |
probably damaging |
Het |
| Vmn2r5 |
A |
T |
3: 64,398,726 (GRCm39) |
L751* |
probably null |
Het |
| Xkr8 |
G |
A |
4: 132,458,246 (GRCm39) |
P144L |
probably damaging |
Het |
| Zfpm2 |
T |
C |
15: 40,616,355 (GRCm39) |
I35T |
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 |
|
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 |
|
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'- AGCAACTGTAGGTCAGAATTCTG -3'
(R):5'- GCTAGGTAGGTATGGTAACGGC -3'
Sequencing Primer
(F):5'- TGAACATGTCAGTGAAGGCAC -3'
(R):5'- TAGGTATGGTAACGGCATATAGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation