Incidental Mutation 'IGL00799:Slc23a3'
ID |
14062 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc23a3
|
Ensembl Gene |
ENSMUSG00000026205 |
Gene Name |
solute carrier family 23 (nucleobase transporters), member 3 |
Synonyms |
Yspl1, SVCT3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00799
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
75102185-75110534 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 75109925 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 114
(I114N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027405
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027405]
[ENSMUST00000041213]
[ENSMUST00000168720]
[ENSMUST00000190679]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027405
AA Change: I114N
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000027405 Gene: ENSMUSG00000026205 AA Change: I114N
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
30 |
N/A |
INTRINSIC |
Pfam:Xan_ur_permease
|
50 |
122 |
4.6e-12 |
PFAM |
Pfam:Xan_ur_permease
|
115 |
476 |
2.3e-100 |
PFAM |
transmembrane domain
|
490 |
512 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000041213
|
SMART Domains |
Protein: ENSMUSP00000044799 Gene: ENSMUSG00000033159
Domain | Start | End | E-Value | Type |
Pfam:Cyclin
|
72 |
174 |
7.5e-10 |
PFAM |
low complexity region
|
231 |
252 |
N/A |
INTRINSIC |
low complexity region
|
256 |
268 |
N/A |
INTRINSIC |
low complexity region
|
310 |
331 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168720
|
SMART Domains |
Protein: ENSMUSP00000132688 Gene: ENSMUSG00000033159
Domain | Start | End | E-Value | Type |
Pfam:Cyclin
|
49 |
174 |
5.2e-13 |
PFAM |
Pfam:Cyclin_N
|
55 |
175 |
4.4e-6 |
PFAM |
low complexity region
|
231 |
252 |
N/A |
INTRINSIC |
low complexity region
|
256 |
268 |
N/A |
INTRINSIC |
low complexity region
|
310 |
331 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187888
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188037
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188080
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189043
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190679
|
SMART Domains |
Protein: ENSMUSP00000140289 Gene: ENSMUSG00000033159
Domain | Start | End | E-Value | Type |
Pfam:Cyclin
|
49 |
174 |
5.2e-13 |
PFAM |
Pfam:Cyclin_N
|
55 |
175 |
4.4e-6 |
PFAM |
low complexity region
|
231 |
252 |
N/A |
INTRINSIC |
low complexity region
|
256 |
268 |
N/A |
INTRINSIC |
low complexity region
|
310 |
331 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm2 |
A |
T |
4: 144,281,843 (GRCm39) |
H316Q |
probably benign |
Het |
Boc |
G |
T |
16: 44,313,318 (GRCm39) |
D515E |
probably benign |
Het |
Cenpe |
T |
A |
3: 134,934,678 (GRCm39) |
|
probably null |
Het |
Ctcf |
A |
G |
8: 106,403,968 (GRCm39) |
D608G |
unknown |
Het |
Dab2ip |
A |
G |
2: 35,597,787 (GRCm39) |
I99V |
probably benign |
Het |
Ecpas |
T |
A |
4: 58,828,047 (GRCm39) |
I981F |
possibly damaging |
Het |
Ehd2 |
C |
T |
7: 15,697,392 (GRCm39) |
A139T |
possibly damaging |
Het |
Fam151b |
C |
A |
13: 92,614,361 (GRCm39) |
K42N |
probably damaging |
Het |
Gapvd1 |
A |
T |
2: 34,589,872 (GRCm39) |
D1002E |
probably benign |
Het |
Gusb |
T |
C |
5: 130,028,222 (GRCm39) |
Y290C |
probably damaging |
Het |
Hoxd10 |
A |
G |
2: 74,522,786 (GRCm39) |
S155G |
probably benign |
Het |
Hp |
A |
G |
8: 110,302,250 (GRCm39) |
|
probably null |
Het |
Ift122 |
T |
C |
6: 115,854,497 (GRCm39) |
S112P |
probably damaging |
Het |
Iqgap2 |
A |
G |
13: 95,794,452 (GRCm39) |
|
probably benign |
Het |
Mtbp |
T |
A |
15: 55,480,904 (GRCm39) |
L290* |
probably null |
Het |
Nr5a2 |
T |
A |
1: 136,818,536 (GRCm39) |
D330V |
probably damaging |
Het |
R3hdm1 |
T |
A |
1: 128,102,700 (GRCm39) |
L157Q |
probably damaging |
Het |
Rad21 |
A |
T |
15: 51,839,521 (GRCm39) |
D116E |
possibly damaging |
Het |
Syne1 |
A |
G |
10: 5,347,878 (GRCm38) |
I1140L |
probably benign |
Het |
|
Other mutations in Slc23a3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0468:Slc23a3
|
UTSW |
1 |
75,109,874 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3858:Slc23a3
|
UTSW |
1 |
75,106,040 (GRCm39) |
critical splice donor site |
probably null |
|
R3913:Slc23a3
|
UTSW |
1 |
75,105,566 (GRCm39) |
missense |
probably benign |
0.44 |
R4060:Slc23a3
|
UTSW |
1 |
75,109,964 (GRCm39) |
unclassified |
probably benign |
|
R4592:Slc23a3
|
UTSW |
1 |
75,105,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R4937:Slc23a3
|
UTSW |
1 |
75,109,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R4940:Slc23a3
|
UTSW |
1 |
75,110,447 (GRCm39) |
splice site |
probably null |
|
R6213:Slc23a3
|
UTSW |
1 |
75,108,392 (GRCm39) |
missense |
probably benign |
|
R6402:Slc23a3
|
UTSW |
1 |
75,105,200 (GRCm39) |
missense |
probably damaging |
0.99 |
R6644:Slc23a3
|
UTSW |
1 |
75,105,191 (GRCm39) |
missense |
probably damaging |
0.98 |
R7068:Slc23a3
|
UTSW |
1 |
75,109,877 (GRCm39) |
missense |
probably benign |
0.00 |
R7944:Slc23a3
|
UTSW |
1 |
75,106,040 (GRCm39) |
critical splice donor site |
probably null |
|
R7945:Slc23a3
|
UTSW |
1 |
75,106,040 (GRCm39) |
critical splice donor site |
probably null |
|
R8220:Slc23a3
|
UTSW |
1 |
75,110,511 (GRCm39) |
unclassified |
probably benign |
|
R8368:Slc23a3
|
UTSW |
1 |
75,106,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R8443:Slc23a3
|
UTSW |
1 |
75,110,085 (GRCm39) |
missense |
probably benign |
0.12 |
R8726:Slc23a3
|
UTSW |
1 |
75,106,173 (GRCm39) |
missense |
probably benign |
0.02 |
R8843:Slc23a3
|
UTSW |
1 |
75,106,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R9014:Slc23a3
|
UTSW |
1 |
75,109,274 (GRCm39) |
missense |
probably benign |
0.02 |
R9759:Slc23a3
|
UTSW |
1 |
75,109,925 (GRCm39) |
frame shift |
probably null |
|
R9760:Slc23a3
|
UTSW |
1 |
75,109,925 (GRCm39) |
frame shift |
probably null |
|
R9761:Slc23a3
|
UTSW |
1 |
75,109,925 (GRCm39) |
frame shift |
probably null |
|
R9762:Slc23a3
|
UTSW |
1 |
75,109,925 (GRCm39) |
frame shift |
probably null |
|
|
Posted On |
2012-12-06 |