Incidental Mutation 'R3155:Slc15a4'
ID |
263457 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc15a4
|
Ensembl Gene |
ENSMUSG00000029416 |
Gene Name |
solute carrier family 15, member 4 |
Synonyms |
C130069N12Rik, PTR4, PHT1 |
MMRRC Submission |
040606-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R3155 (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: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (39/39) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933407L21Rik |
T |
C |
1: 85,859,104 (GRCm39) |
|
probably benign |
Het |
Aco1 |
T |
C |
4: 40,182,915 (GRCm39) |
V487A |
probably damaging |
Het |
Adh1 |
A |
G |
3: 137,986,250 (GRCm39) |
E79G |
probably damaging |
Het |
Aebp1 |
A |
G |
11: 5,821,425 (GRCm39) |
N608S |
probably benign |
Het |
Ahctf1 |
G |
A |
1: 179,583,148 (GRCm39) |
R43C |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,987,541 (GRCm39) |
I2942L |
possibly damaging |
Het |
Anxa9 |
A |
T |
3: 95,209,716 (GRCm39) |
D134E |
probably benign |
Het |
Ccdc14 |
A |
G |
16: 34,544,222 (GRCm39) |
D860G |
probably damaging |
Het |
Cdhr3 |
T |
A |
12: 33,099,152 (GRCm39) |
I480F |
possibly damaging |
Het |
Cldn34a |
C |
T |
X: 151,346,840 (GRCm39) |
H171Y |
probably benign |
Het |
Cyp2d9 |
T |
A |
15: 82,336,843 (GRCm39) |
|
probably null |
Het |
Dmbt1 |
T |
A |
7: 130,651,887 (GRCm39) |
Y376* |
probably null |
Het |
Fancm |
T |
C |
12: 65,163,195 (GRCm39) |
I1453T |
probably benign |
Het |
Fbxw11 |
A |
G |
11: 32,689,244 (GRCm39) |
I456V |
possibly damaging |
Het |
Fut2 |
A |
T |
7: 45,300,091 (GRCm39) |
L227Q |
probably damaging |
Het |
Gbp5 |
T |
C |
3: 142,208,888 (GRCm39) |
|
probably null |
Het |
Glrp1 |
C |
A |
1: 88,430,976 (GRCm39) |
Q131H |
unknown |
Het |
Gm6871 |
T |
C |
7: 41,223,079 (GRCm39) |
N3S |
probably benign |
Het |
H2-Eb1 |
C |
A |
17: 34,533,348 (GRCm39) |
T190K |
probably damaging |
Het |
Kdr |
T |
A |
5: 76,129,065 (GRCm39) |
I194F |
probably benign |
Het |
Klhdc7a |
A |
G |
4: 139,694,500 (GRCm39) |
V149A |
probably benign |
Het |
Lrit3 |
A |
G |
3: 129,585,044 (GRCm39) |
F238S |
probably benign |
Het |
Map10 |
A |
T |
8: 126,398,313 (GRCm39) |
I569F |
possibly damaging |
Het |
Myh6 |
A |
G |
14: 55,182,125 (GRCm39) |
I1761T |
probably damaging |
Het |
Npc1l1 |
A |
C |
11: 6,171,840 (GRCm39) |
D874E |
probably benign |
Het |
Or4k15c |
T |
C |
14: 50,321,982 (GRCm39) |
D52G |
probably benign |
Het |
Or8c17 |
T |
A |
9: 38,179,836 (GRCm39) |
M1K |
probably null |
Het |
Pawr |
A |
G |
10: 108,245,370 (GRCm39) |
T193A |
probably benign |
Het |
Ppp2r3d |
T |
C |
9: 101,089,559 (GRCm39) |
K255E |
possibly damaging |
Het |
Rbp3 |
A |
T |
14: 33,679,071 (GRCm39) |
K1006N |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rin2 |
A |
G |
2: 145,702,771 (GRCm39) |
K489R |
probably benign |
Het |
Rlf |
A |
G |
4: 121,006,529 (GRCm39) |
V817A |
probably damaging |
Het |
Rusc1 |
T |
C |
3: 88,999,038 (GRCm39) |
D248G |
probably benign |
Het |
Stk4 |
T |
A |
2: 163,993,663 (GRCm39) |
M98K |
probably benign |
Het |
Taf15 |
T |
A |
11: 83,393,599 (GRCm39) |
H307Q |
probably benign |
Het |
Urgcp |
A |
T |
11: 5,666,327 (GRCm39) |
F670L |
probably damaging |
Het |
Vmn2r76 |
T |
C |
7: 85,874,959 (GRCm39) |
T673A |
probably damaging |
Het |
Zfp324 |
G |
A |
7: 12,702,817 (GRCm39) |
M60I |
probably damaging |
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 |
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'- AGCTTCCAGGCACCCAAATG -3'
(R):5'- CAGAGCATTGTCACTAGGGGTG -3'
Sequencing Primer
(F):5'- TTCCAGGCACCCAAATGACAAAG -3'
(R):5'- TGTTTCCCAAAGTGAAGGCC -3'
|
Posted On |
2015-02-05 |