Incidental Mutation 'R8368:Slc23a3'
| ID |
646237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc23a3
|
| Ensembl Gene |
ENSMUSG00000026205 |
| Gene Name |
solute carrier family 23 (nucleobase transporters), member 3 |
| Synonyms |
Yspl1, SVCT3 |
| MMRRC Submission |
067738-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8368 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
75102185-75110534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 75106281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 313
(P313T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027405]
[ENSMUST00000168720]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027405
AA Change: P313T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027405
Gene: ENSMUSG00000026205
AA Change: P313T
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap39 |
A |
T |
15: 76,619,455 (GRCm39) |
S710T |
probably damaging |
Het |
| Asb10 |
A |
C |
5: 24,744,615 (GRCm39) |
I193S |
probably benign |
Het |
| C2cd6 |
A |
G |
1: 59,133,820 (GRCm39) |
L67P |
probably benign |
Het |
| Ccdc14 |
T |
C |
16: 34,543,742 (GRCm39) |
L748P |
probably benign |
Het |
| Cers4 |
T |
G |
8: 4,565,698 (GRCm39) |
V48G |
probably benign |
Het |
| Chrna10 |
T |
C |
7: 101,764,223 (GRCm39) |
T54A |
probably benign |
Het |
| Dip2b |
T |
C |
15: 100,052,124 (GRCm39) |
S242P |
probably benign |
Het |
| Fam151a |
A |
G |
4: 106,604,190 (GRCm39) |
T325A |
probably benign |
Het |
| Gm21190 |
A |
T |
5: 15,729,848 (GRCm39) |
S257T |
possibly damaging |
Het |
| Gm49368 |
T |
C |
7: 127,713,921 (GRCm39) |
S909P |
probably benign |
Het |
| Gm5150 |
C |
A |
3: 16,044,902 (GRCm39) |
V108F |
probably damaging |
Het |
| Gsdmc2 |
G |
A |
15: 63,696,902 (GRCm39) |
T423I |
probably damaging |
Het |
| Hsf2 |
T |
A |
10: 57,388,241 (GRCm39) |
C501S |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,836,796 (GRCm39) |
N551D |
probably benign |
Het |
| Kctd3 |
G |
A |
1: 188,704,404 (GRCm39) |
T789I |
probably benign |
Het |
| Lad1 |
A |
G |
1: 135,759,264 (GRCm39) |
E474G |
probably damaging |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 104,002,379 (GRCm39) |
|
probably null |
Het |
| Nrdc |
A |
G |
4: 108,870,895 (GRCm39) |
D174G |
probably benign |
Het |
| Nrxn3 |
T |
A |
12: 90,298,815 (GRCm39) |
Y445* |
probably null |
Het |
| Otol1 |
A |
G |
3: 69,935,199 (GRCm39) |
Y397C |
probably damaging |
Het |
| Pkd2 |
G |
T |
5: 104,607,653 (GRCm39) |
E51* |
probably null |
Het |
| Rad21l |
A |
G |
2: 151,495,390 (GRCm39) |
V431A |
probably benign |
Het |
| Rad50 |
A |
G |
11: 53,574,155 (GRCm39) |
L694S |
possibly damaging |
Het |
| Rasal1 |
A |
G |
5: 120,809,615 (GRCm39) |
S507G |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 51,940,833 (GRCm39) |
D2162V |
probably damaging |
Het |
| Samd7 |
A |
T |
3: 30,819,574 (GRCm39) |
D441V |
probably damaging |
Het |
| Senp1 |
T |
C |
15: 97,943,255 (GRCm39) |
S623G |
probably damaging |
Het |
| Shld1 |
T |
C |
2: 132,592,433 (GRCm39) |
I160T |
probably benign |
Het |
| Slc66a2 |
T |
C |
18: 80,334,873 (GRCm39) |
S231P |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,870,368 (GRCm39) |
D1320G |
possibly damaging |
Het |
| Tdpoz7 |
A |
G |
3: 93,979,893 (GRCm39) |
F20S |
probably damaging |
Het |
| Tinf2 |
T |
C |
14: 55,917,030 (GRCm39) |
T372A |
probably damaging |
Het |
| Trim45 |
A |
G |
3: 100,830,672 (GRCm39) |
T149A |
possibly damaging |
Het |
| Trim63 |
TGAGGAGGAGGAGGAGGAGGAG |
TGAGGAGGAGGAGGAGGAG |
4: 134,055,017 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
C |
T |
9: 73,838,070 (GRCm39) |
S927N |
probably benign |
Het |
| Uqcrfs1 |
C |
A |
13: 30,724,799 (GRCm39) |
G247V |
probably damaging |
Het |
| Zfp143 |
A |
T |
7: 109,682,455 (GRCm39) |
N342I |
probably damaging |
Het |
|
| Other mutations in Slc23a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00799:Slc23a3
|
APN |
1 |
75,109,925 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACTCACTGTGCCTACGTTG -3'
(R):5'- TTCAGACCAAAGATGACCTGTAG -3'
Sequencing Primer
(F):5'- AAGCTGGATGCAGTGCC -3'
(R):5'- ACCAAAGATGACCTGTAGATAGATAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation