Incidental Mutation 'R4450:Slc15a4'
ID |
328917 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc15a4
|
Ensembl Gene |
ENSMUSG00000029416 |
Gene Name |
solute carrier family 15, member 4 |
Synonyms |
C130069N12Rik, PTR4, PHT1 |
MMRRC Submission |
041711-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R4450 (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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
98% (43/44) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3930402G23Rik |
T |
A |
8: 10,976,129 (GRCm39) |
|
noncoding transcript |
Het |
Acsl6 |
A |
G |
11: 54,219,229 (GRCm39) |
D278G |
probably damaging |
Het |
Adamdec1 |
C |
T |
14: 68,810,568 (GRCm39) |
R196Q |
probably benign |
Het |
Akap13 |
T |
A |
7: 75,392,508 (GRCm39) |
F2450L |
probably damaging |
Het |
Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
Angel1 |
A |
T |
12: 86,768,698 (GRCm39) |
Y262N |
probably damaging |
Het |
Arhgef18 |
A |
G |
8: 3,487,097 (GRCm39) |
E272G |
probably damaging |
Het |
Bpifb6 |
A |
G |
2: 153,748,688 (GRCm39) |
E228G |
possibly damaging |
Het |
Brca2 |
T |
G |
5: 150,459,518 (GRCm39) |
D264E |
probably damaging |
Het |
Cdca4 |
T |
C |
12: 112,785,278 (GRCm39) |
N150S |
probably benign |
Het |
Cep162 |
T |
C |
9: 87,107,861 (GRCm39) |
S510G |
probably damaging |
Het |
Cldn12 |
T |
C |
5: 5,558,398 (GRCm39) |
T10A |
probably damaging |
Het |
Clip2 |
C |
T |
5: 134,531,807 (GRCm39) |
G631D |
possibly damaging |
Het |
Col19a1 |
T |
A |
1: 24,361,116 (GRCm39) |
T625S |
probably damaging |
Het |
Col6a5 |
C |
T |
9: 105,781,720 (GRCm39) |
G1635D |
unknown |
Het |
Dcp1b |
A |
G |
6: 119,183,437 (GRCm39) |
T175A |
probably benign |
Het |
Eln |
C |
T |
5: 134,754,635 (GRCm39) |
|
probably benign |
Het |
Galnt2 |
A |
G |
8: 125,022,116 (GRCm39) |
D14G |
probably benign |
Het |
Gm9894 |
T |
A |
13: 67,913,199 (GRCm39) |
|
noncoding transcript |
Het |
Herc2 |
T |
C |
7: 55,877,640 (GRCm39) |
L4569P |
probably damaging |
Het |
Iqcm |
T |
C |
8: 76,356,394 (GRCm39) |
S176P |
probably damaging |
Het |
Klhl42 |
G |
A |
6: 146,993,169 (GRCm39) |
G47D |
probably benign |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Lzts2 |
A |
T |
19: 45,012,032 (GRCm39) |
K154* |
probably null |
Het |
Map4k3 |
C |
T |
17: 80,911,411 (GRCm39) |
|
probably null |
Het |
Mlc1 |
A |
G |
15: 88,847,693 (GRCm39) |
F285S |
probably benign |
Het |
Myo5a |
T |
A |
9: 75,074,458 (GRCm39) |
M789K |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,306,933 (GRCm39) |
S319T |
probably damaging |
Het |
Nsun4 |
A |
T |
4: 115,908,453 (GRCm39) |
Y702* |
probably null |
Het |
Or8b52 |
A |
T |
9: 38,577,050 (GRCm39) |
V30E |
probably benign |
Het |
Or8g34 |
G |
A |
9: 39,373,328 (GRCm39) |
M200I |
probably benign |
Het |
Osbpl5 |
T |
A |
7: 143,248,643 (GRCm39) |
T640S |
probably benign |
Het |
Plaat1 |
C |
T |
16: 29,046,976 (GRCm39) |
T165M |
possibly damaging |
Het |
Rangrf |
A |
T |
11: 68,866,010 (GRCm39) |
|
probably benign |
Het |
Rnpc3 |
T |
C |
3: 113,404,786 (GRCm39) |
|
probably benign |
Het |
Ros1 |
C |
T |
10: 51,954,038 (GRCm39) |
G1867D |
probably damaging |
Het |
Slc11a1 |
C |
A |
1: 74,424,694 (GRCm39) |
|
probably benign |
Het |
Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
Syt6 |
A |
G |
3: 103,492,961 (GRCm39) |
H156R |
probably benign |
Het |
Tln2 |
C |
T |
9: 67,251,347 (GRCm39) |
|
probably null |
Het |
Trim58 |
T |
C |
11: 58,542,191 (GRCm39) |
W384R |
probably benign |
Het |
Wwc2 |
A |
G |
8: 48,321,702 (GRCm39) |
Y471H |
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 |
|
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'- AGCTTCCAGGCACCCAAATG -3'
(R):5'- TTGTCACTAGGGGTGGAAGTAAAC -3'
Sequencing Primer
(F):5'- TTCCAGGCACCCAAATGACAAAG -3'
(R):5'- TGTTTCCCAAAGTGAAGGCC -3'
|
Posted On |
2015-07-21 |