Incidental Mutation 'R4544:Slc15a4'
| ID |
333667 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc15a4
|
| Ensembl Gene |
ENSMUSG00000029416 |
| Gene Name |
solute carrier family 15, member 4 |
| Synonyms |
C130069N12Rik, PTR4, PHT1 |
| MMRRC Submission |
041779-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R4544 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
127672728-127709961 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 127681600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031367]
[ENSMUST00000152727]
[ENSMUST00000152727]
[ENSMUST00000153832]
[ENSMUST00000155321]
|
| AlphaFold |
Q91W98 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031367
|
| SMART Domains |
Protein: ENSMUSP00000031367
Gene: ENSMUSG00000029416
| 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: ENSMUST00000144603
|
| SMART Domains |
Protein: ENSMUSP00000116420
Gene: ENSMUSG00000029416
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTR2
|
7 |
127 |
2.2e-38 |
PFAM |
|
| Predicted Effect |
probably null
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 null
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 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 |
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 |
probably null
Transcript: ENSMUST00000198486
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000198486
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199810
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200212
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198727
|
| Meta Mutation Damage Score |
0.9496 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (58/58) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
A |
C |
13: 4,557,843 (GRCm39) |
V201G |
probably damaging |
Het |
| Alg9 |
C |
T |
9: 50,716,654 (GRCm39) |
T409M |
possibly damaging |
Het |
| Atf7 |
A |
G |
15: 102,442,762 (GRCm39) |
V449A |
probably benign |
Het |
| C1s1 |
A |
G |
6: 124,508,499 (GRCm39) |
S497P |
probably benign |
Het |
| Ccnyl1 |
G |
T |
1: 64,762,735 (GRCm39) |
M347I |
probably benign |
Het |
| Chil4 |
C |
A |
3: 106,117,922 (GRCm39) |
R116L |
probably damaging |
Het |
| Cmpk2 |
A |
G |
12: 26,528,016 (GRCm39) |
E411G |
probably damaging |
Het |
| Cmya5 |
G |
A |
13: 93,228,426 (GRCm39) |
R2221* |
probably null |
Het |
| Csmd1 |
A |
T |
8: 16,760,652 (GRCm39) |
F161Y |
possibly damaging |
Het |
| Cspg4 |
T |
A |
9: 56,795,913 (GRCm39) |
L1216Q |
possibly damaging |
Het |
| Dppa3 |
A |
G |
6: 122,603,726 (GRCm39) |
|
probably benign |
Het |
| Ednra |
A |
G |
8: 78,401,540 (GRCm39) |
|
probably null |
Het |
| Fancd2 |
A |
G |
6: 113,549,603 (GRCm39) |
|
probably null |
Het |
| Fastkd1 |
C |
T |
2: 69,542,655 (GRCm39) |
E51K |
probably damaging |
Het |
| Fndc1 |
T |
A |
17: 7,992,376 (GRCm39) |
D440V |
unknown |
Het |
| Gm9934 |
A |
G |
7: 92,702,188 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac1-ps |
A |
T |
17: 78,800,388 (GRCm39) |
T460S |
probably benign |
Het |
| Ifi205 |
T |
C |
1: 173,854,139 (GRCm39) |
I171M |
possibly damaging |
Het |
| Ifi213 |
T |
C |
1: 173,409,693 (GRCm39) |
|
probably null |
Het |
| Insig2 |
A |
T |
1: 121,239,921 (GRCm39) |
|
probably benign |
Het |
| Kdm7a |
T |
C |
6: 39,152,406 (GRCm39) |
R97G |
probably benign |
Het |
| Krt23 |
G |
A |
11: 99,369,102 (GRCm39) |
T397M |
probably benign |
Het |
| Lepr |
G |
A |
4: 101,625,425 (GRCm39) |
V527I |
possibly damaging |
Het |
| Lmo2 |
C |
T |
2: 103,806,382 (GRCm39) |
P25L |
probably damaging |
Het |
| Lsr |
C |
T |
7: 30,671,401 (GRCm39) |
V111M |
probably damaging |
Het |
| Mest |
T |
C |
6: 30,740,679 (GRCm39) |
W13R |
probably damaging |
Het |
| Mfn2 |
A |
G |
4: 147,971,909 (GRCm39) |
V224A |
probably benign |
Het |
| Mkx |
T |
C |
18: 7,000,651 (GRCm39) |
Y97C |
probably damaging |
Het |
| Mndal |
A |
T |
1: 173,703,230 (GRCm39) |
Y58* |
probably null |
Het |
| Myo9b |
T |
C |
8: 71,780,585 (GRCm39) |
V494A |
probably damaging |
Het |
| Nek1 |
C |
T |
8: 61,469,338 (GRCm39) |
Q132* |
probably null |
Het |
| Or2a12 |
C |
T |
6: 42,904,348 (GRCm39) |
S61L |
probably damaging |
Het |
| Or6c5 |
A |
C |
10: 129,074,027 (GRCm39) |
N3T |
probably damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,414,836 (GRCm39) |
V409A |
possibly damaging |
Het |
| Pde8a |
A |
T |
7: 80,977,847 (GRCm39) |
R713S |
probably damaging |
Het |
| Pex10 |
T |
C |
4: 155,154,952 (GRCm39) |
Y235H |
probably benign |
Het |
| Pik3cb |
T |
A |
9: 98,921,812 (GRCm39) |
K1050I |
probably damaging |
Het |
| Prss56 |
A |
G |
1: 87,112,364 (GRCm39) |
D85G |
probably damaging |
Het |
| Psg26 |
T |
C |
7: 18,212,464 (GRCm39) |
N297S |
probably damaging |
Het |
| Rdh16f1 |
T |
C |
10: 127,626,706 (GRCm39) |
L253S |
probably benign |
Het |
| Slc7a8 |
C |
G |
14: 54,973,247 (GRCm39) |
G240A |
possibly damaging |
Het |
| Slc8b1 |
G |
A |
5: 120,669,218 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
G |
A |
19: 40,300,294 (GRCm39) |
T575M |
probably damaging |
Het |
| Syne3 |
T |
A |
12: 104,925,728 (GRCm39) |
K313M |
probably damaging |
Het |
| Tas2r108 |
A |
G |
6: 40,470,742 (GRCm39) |
T73A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,652,932 (GRCm39) |
|
probably null |
Het |
| Uba52rt |
C |
T |
4: 3,973,244 (GRCm39) |
R106H |
probably benign |
Het |
| Ubr3 |
G |
A |
2: 69,786,437 (GRCm39) |
M850I |
probably benign |
Het |
| Vmn2r78 |
A |
T |
7: 86,570,399 (GRCm39) |
M306L |
probably benign |
Het |
| Vmn2r9 |
T |
G |
5: 108,995,551 (GRCm39) |
M366L |
probably benign |
Het |
| Zan |
C |
G |
5: 137,382,096 (GRCm39) |
M5150I |
unknown |
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 |
|
|
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'- AGCTTCCAGGCACCCAAATG -3'
(R):5'- CAGAGCATTGTCACTAGGGGTG -3'
Sequencing Primer
(F):5'- TTCCAGGCACCCAAATGACAAAG -3'
(R):5'- TGTTTCCCAAAGTGAAGGCC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation