Incidental Mutation 'R6402:Slc23a3'
| ID |
516188 |
| 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 |
044419-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6402 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
75102185-75110534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75105200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 456
(N456S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027405]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027405
AA Change: N456S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027405
Gene: ENSMUSG00000026205
AA Change: N456S
| 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 |
noncoding transcript
Transcript: ENSMUST00000188033
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188080
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
T |
A |
9: 103,976,144 (GRCm39) |
I268F |
possibly damaging |
Het |
| Adck2 |
T |
C |
6: 39,563,803 (GRCm39) |
V514A |
possibly damaging |
Het |
| Catsper1 |
G |
T |
19: 5,389,524 (GRCm39) |
G480W |
probably damaging |
Het |
| Cbarp |
A |
G |
10: 79,970,956 (GRCm39) |
I247T |
probably benign |
Het |
| Cdc14a |
A |
G |
3: 116,142,108 (GRCm39) |
Y172H |
probably damaging |
Het |
| Creld2 |
C |
T |
15: 88,707,344 (GRCm39) |
R221C |
probably damaging |
Het |
| Dmac1 |
C |
T |
4: 75,196,217 (GRCm39) |
|
probably null |
Het |
| Epsti1 |
A |
G |
14: 78,177,318 (GRCm39) |
E166G |
probably damaging |
Het |
| Hus1 |
A |
G |
11: 8,960,407 (GRCm39) |
F64S |
probably damaging |
Het |
| Kansl1l |
T |
A |
1: 66,801,352 (GRCm39) |
H538L |
probably damaging |
Het |
| Map4k2 |
T |
C |
19: 6,394,111 (GRCm39) |
|
probably null |
Het |
| Mettl8 |
A |
T |
2: 70,796,805 (GRCm39) |
Y98* |
probably null |
Het |
| Naip6 |
G |
T |
13: 100,437,226 (GRCm39) |
H432Q |
probably benign |
Het |
| Sirt4 |
C |
T |
5: 115,618,370 (GRCm39) |
V235M |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,283,389 (GRCm39) |
H827R |
probably benign |
Het |
| Slc9a1 |
C |
A |
4: 133,097,962 (GRCm39) |
H36Q |
probably benign |
Het |
| Spink14 |
A |
G |
18: 44,164,041 (GRCm39) |
T70A |
probably damaging |
Het |
| Stambpl1 |
C |
A |
19: 34,211,539 (GRCm39) |
P200Q |
probably benign |
Het |
| Trio |
T |
A |
15: 27,902,997 (GRCm39) |
I155L |
probably benign |
Het |
| Vmn1r51 |
T |
C |
6: 90,106,444 (GRCm39) |
V120A |
probably benign |
Het |
| Wac |
A |
G |
18: 7,901,585 (GRCm39) |
S77G |
possibly damaging |
Het |
| Zeb2 |
G |
A |
2: 44,886,987 (GRCm39) |
T675I |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTACACGCAAAATCCCACTGTG -3'
(R):5'- TTGTTTTCTTAGCTGAACCGAGTC -3'
Sequencing Primer
(F):5'- ACTGTGAGACCAAGAATCCAG -3'
(R):5'- CTGAACCGAGTCTCTTGGAGAATC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation