Incidental Mutation 'R5278:Slc15a4'
| ID |
404041 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc15a4
|
| Ensembl Gene |
ENSMUSG00000029416 |
| Gene Name |
solute carrier family 15, member 4 |
| Synonyms |
C130069N12Rik, PTR4, PHT1 |
| MMRRC Submission |
042865-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R5278 (G1)
|
| Quality Score |
100 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
127672728-127709961 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 127694033 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 134
(V134E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031367]
[ENSMUST00000153832]
[ENSMUST00000155321]
|
| AlphaFold |
Q91W98 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031367
AA Change: V134E
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031367
Gene: ENSMUSG00000029416
AA Change: V134E
| 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: V86E
|
| SMART Domains |
Protein: ENSMUSP00000121595
Gene: ENSMUSG00000029416
AA Change: V86E
| 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: V134E
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123116
Gene: ENSMUSG00000029416
AA Change: V134E
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.6%
|
| Validation Efficiency |
98% (50/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
C |
T |
5: 35,745,500 (GRCm39) |
|
probably benign |
Het |
| Acvr2b |
G |
A |
9: 119,261,555 (GRCm39) |
V383I |
probably damaging |
Het |
| Akap12 |
T |
C |
10: 4,304,792 (GRCm39) |
M534T |
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,052,888 (GRCm39) |
E26K |
probably benign |
Het |
| Alcam |
A |
G |
16: 52,094,638 (GRCm39) |
I371T |
probably benign |
Het |
| Ap2a1 |
T |
C |
7: 44,552,203 (GRCm39) |
T794A |
probably benign |
Het |
| Apeh |
G |
A |
9: 107,968,457 (GRCm39) |
P349S |
probably benign |
Het |
| Asb7 |
G |
T |
7: 66,328,933 (GRCm39) |
Q36K |
possibly damaging |
Het |
| Asl |
A |
G |
5: 130,047,672 (GRCm39) |
|
probably null |
Het |
| Atp13a2 |
T |
A |
4: 140,728,129 (GRCm39) |
I574N |
probably damaging |
Het |
| Bcl2l2 |
T |
A |
14: 55,122,251 (GRCm39) |
I138N |
probably damaging |
Het |
| Cacna1d |
C |
T |
14: 30,074,881 (GRCm39) |
|
probably null |
Het |
| Ccdc9 |
C |
T |
7: 16,012,306 (GRCm39) |
W1* |
probably null |
Het |
| Cdh18 |
T |
A |
15: 23,474,244 (GRCm39) |
S705T |
probably benign |
Het |
| Ces5a |
A |
T |
8: 94,252,266 (GRCm39) |
W209R |
probably damaging |
Het |
| Chpf2 |
T |
A |
5: 24,793,088 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
T |
A |
17: 46,821,799 (GRCm39) |
H1892L |
probably damaging |
Het |
| Cxcl13 |
A |
G |
5: 96,106,586 (GRCm39) |
T53A |
probably benign |
Het |
| Cyp2s1 |
T |
A |
7: 25,505,309 (GRCm39) |
Y385F |
possibly damaging |
Het |
| Ddx46 |
A |
G |
13: 55,823,851 (GRCm39) |
E915G |
probably damaging |
Het |
| Elovl3 |
G |
A |
19: 46,122,540 (GRCm39) |
V113I |
probably benign |
Het |
| Fam53c |
A |
T |
18: 34,895,671 (GRCm39) |
|
probably benign |
Het |
| Fbxw15 |
A |
T |
9: 109,384,752 (GRCm39) |
F349L |
probably benign |
Het |
| Fuz |
C |
T |
7: 44,545,701 (GRCm39) |
P9L |
probably benign |
Het |
| Igf1r |
C |
T |
7: 67,843,166 (GRCm39) |
T759M |
possibly damaging |
Het |
| Impg2 |
G |
A |
16: 56,041,880 (GRCm39) |
D175N |
probably benign |
Het |
| Jade1 |
G |
T |
3: 41,543,444 (GRCm39) |
R43L |
possibly damaging |
Het |
| Kntc1 |
A |
G |
5: 123,919,077 (GRCm39) |
E816G |
probably damaging |
Het |
| Mettl8 |
A |
T |
2: 70,803,641 (GRCm39) |
D262E |
probably damaging |
Het |
| Mrpl48 |
A |
G |
7: 100,201,790 (GRCm39) |
V156A |
probably damaging |
Het |
| Mst1 |
A |
C |
9: 107,959,414 (GRCm39) |
K233N |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,225,390 (GRCm39) |
I252V |
probably benign |
Het |
| Nox4 |
T |
C |
7: 87,021,134 (GRCm39) |
W449R |
probably damaging |
Het |
| Or2a52 |
T |
C |
6: 43,144,655 (GRCm39) |
L221P |
probably damaging |
Het |
| Or2l5 |
A |
T |
16: 19,334,128 (GRCm39) |
L86* |
probably null |
Het |
| Pank4 |
T |
C |
4: 155,056,622 (GRCm39) |
L351P |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,609,973 (GRCm39) |
|
probably null |
Het |
| Peg10 |
CCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATCC |
CCATCAGGATGCACATCAGGATCC |
6: 4,756,442 (GRCm39) |
|
probably benign |
Het |
| Polr3e |
T |
A |
7: 120,522,184 (GRCm39) |
I10K |
possibly damaging |
Het |
| Prkdc |
T |
C |
16: 15,532,838 (GRCm39) |
I1489T |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2b |
A |
G |
11: 32,331,447 (GRCm39) |
D57G |
probably damaging |
Het |
| Shank2 |
G |
A |
7: 143,622,612 (GRCm39) |
|
probably null |
Het |
| Slc49a4 |
A |
G |
16: 35,518,358 (GRCm39) |
S452P |
probably damaging |
Het |
| Stxbp5l |
G |
T |
16: 37,007,016 (GRCm39) |
Q726K |
probably benign |
Het |
| Tesk2 |
T |
G |
4: 116,663,133 (GRCm39) |
|
probably benign |
Het |
| Tex2 |
A |
G |
11: 106,458,639 (GRCm39) |
S264P |
probably benign |
Het |
| Tnik |
A |
G |
3: 28,704,209 (GRCm39) |
Q1003R |
probably damaging |
Het |
| Trip12 |
C |
T |
1: 84,739,868 (GRCm39) |
R628H |
probably damaging |
Het |
| Vmn2r69 |
G |
A |
7: 85,060,991 (GRCm39) |
H198Y |
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 |
|
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'- TCAACGCTTAGGTTCGGGTAG -3'
(R):5'- TCATGGGCCTCACCTATCTG -3'
Sequencing Primer
(F):5'- AACCCGGGAAGACCTGAGC -3'
(R):5'- TATCTGGGCTCGCCGTTCG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation