Incidental Mutation 'IGL01123:Slc23a2'
| ID |
50571 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc23a2
|
| Ensembl Gene |
ENSMUSG00000027340 |
| Gene Name |
solute carrier family 23 (nucleobase transporters), member 2 |
| Synonyms |
Slc23a1, SVCT2, YSPL3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01123
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
132052496-132145108 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 132056816 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 600
(N600K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028815]
|
| AlphaFold |
Q9EPR4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028815
AA Change: N600K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000028815
Gene: ENSMUSG00000027340
AA Change: N600K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Xan_ur_permease
|
101 |
534 |
1.7e-93 |
PFAM |
|
transmembrane domain
|
547 |
566 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
592 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137910
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148749
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C. Previously, this gene had an official symbol of SLC23A1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die within minutes of birth from respiratory distress. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
G |
T |
10: 28,973,938 (GRCm38) |
D167E |
probably damaging |
Het |
| Aadat |
A |
T |
8: 60,526,614 (GRCm38) |
E170V |
probably benign |
Het |
| Acsf2 |
T |
C |
11: 94,570,450 (GRCm38) |
E300G |
probably benign |
Het |
| Agbl3 |
C |
T |
6: 34,846,976 (GRCm38) |
Q859* |
probably null |
Het |
| Arhgap11a |
T |
C |
2: 113,834,773 (GRCm38) |
|
probably benign |
Het |
| Arhgef40 |
C |
A |
14: 51,994,346 (GRCm38) |
Q730K |
probably damaging |
Het |
| Armc3 |
C |
T |
2: 19,201,805 (GRCm38) |
P13L |
possibly damaging |
Het |
| B3gnt2 |
T |
A |
11: 22,836,490 (GRCm38) |
T233S |
probably benign |
Het |
| Bnc1 |
G |
A |
7: 81,973,707 (GRCm38) |
Q591* |
probably null |
Het |
| Bsn |
A |
T |
9: 108,115,986 (GRCm38) |
F856I |
probably damaging |
Het |
| CK137956 |
T |
A |
4: 127,935,850 (GRCm38) |
T558S |
probably benign |
Het |
| Coq8b |
G |
A |
7: 27,240,084 (GRCm38) |
V180I |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 17,534,928 (GRCm38) |
L16Q |
possibly damaging |
Het |
| Dhx37 |
A |
G |
5: 125,419,088 (GRCm38) |
S769P |
possibly damaging |
Het |
| Diras1 |
T |
A |
10: 81,022,415 (GRCm38) |
M1L |
probably damaging |
Het |
| Fam161b |
A |
G |
12: 84,357,664 (GRCm38) |
W81R |
probably benign |
Het |
| Fat4 |
A |
T |
3: 38,957,269 (GRCm38) |
I2173L |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,104,081 (GRCm38) |
T617A |
possibly damaging |
Het |
| Gabrq |
G |
A |
X: 72,836,833 (GRCm38) |
D311N |
probably benign |
Het |
| Isl2 |
G |
T |
9: 55,545,462 (GRCm38) |
G335C |
probably damaging |
Het |
| Kbtbd7 |
T |
C |
14: 79,428,612 (GRCm38) |
V628A |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,837,148 (GRCm38) |
M5378V |
unknown |
Het |
| Lrrc23 |
G |
T |
6: 124,778,819 (GRCm38) |
D75E |
probably benign |
Het |
| Mab21l3 |
G |
A |
3: 101,835,130 (GRCm38) |
T38M |
probably benign |
Het |
| Matn1 |
T |
C |
4: 130,950,011 (GRCm38) |
I177T |
possibly damaging |
Het |
| Mtor |
T |
C |
4: 148,453,037 (GRCm38) |
S60P |
probably benign |
Het |
| Naip6 |
T |
C |
13: 100,304,438 (GRCm38) |
E278G |
probably benign |
Het |
| Nsun6 |
T |
C |
2: 15,048,978 (GRCm38) |
I7V |
possibly damaging |
Het |
| Pabpc6 |
A |
T |
17: 9,668,147 (GRCm38) |
S492T |
probably benign |
Het |
| Pakap |
C |
T |
4: 57,757,627 (GRCm38) |
Q188* |
probably null |
Het |
| Pom121 |
A |
T |
5: 135,391,706 (GRCm38) |
V287D |
unknown |
Het |
| Ptprq |
A |
T |
10: 107,686,218 (GRCm38) |
F624Y |
probably damaging |
Het |
| Ptprr |
A |
G |
10: 116,188,317 (GRCm38) |
T178A |
probably benign |
Het |
| Pygm |
A |
G |
19: 6,391,394 (GRCm38) |
N473S |
probably benign |
Het |
| Ros1 |
A |
T |
10: 52,120,809 (GRCm38) |
Y1256N |
probably damaging |
Het |
| Scpep1 |
T |
C |
11: 88,941,328 (GRCm38) |
N192S |
possibly damaging |
Het |
| Serpina1f |
A |
G |
12: 103,694,006 (GRCm38) |
S6P |
possibly damaging |
Het |
| Sgca |
T |
A |
11: 94,972,287 (GRCm38) |
Q80L |
probably damaging |
Het |
| Skint6 |
A |
G |
4: 112,804,682 (GRCm38) |
L1235P |
possibly damaging |
Het |
| Spata20 |
T |
C |
11: 94,483,395 (GRCm38) |
T350A |
probably benign |
Het |
| Syne1 |
G |
T |
10: 5,344,921 (GRCm38) |
Y1227* |
probably null |
Het |
| Unc13c |
T |
C |
9: 73,933,197 (GRCm38) |
Y124C |
probably benign |
Het |
| Usp40 |
G |
A |
1: 87,986,123 (GRCm38) |
T416I |
probably benign |
Het |
| Vmn1r200 |
T |
C |
13: 22,395,401 (GRCm38) |
W116R |
probably benign |
Het |
| Vps4a |
T |
C |
8: 107,039,219 (GRCm38) |
|
probably benign |
Het |
| Zfyve16 |
A |
G |
13: 92,492,522 (GRCm38) |
V1469A |
probably damaging |
Het |
|
| Other mutations in Slc23a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00763:Slc23a2
|
APN |
2 |
132,101,500 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03115:Slc23a2
|
APN |
2 |
132,091,265 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0352:Slc23a2
|
UTSW |
2 |
132,060,796 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0446:Slc23a2
|
UTSW |
2 |
132,078,433 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0499:Slc23a2
|
UTSW |
2 |
132,072,017 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1252:Slc23a2
|
UTSW |
2 |
132,062,197 (GRCm38) |
splice site |
probably null |
|
|
R1663:Slc23a2
|
UTSW |
2 |
132,065,464 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1768:Slc23a2
|
UTSW |
2 |
132,075,641 (GRCm38) |
missense |
probably benign |
|
|
R1914:Slc23a2
|
UTSW |
2 |
132,056,766 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2277:Slc23a2
|
UTSW |
2 |
132,091,259 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R2326:Slc23a2
|
UTSW |
2 |
132,094,195 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R2385:Slc23a2
|
UTSW |
2 |
132,089,201 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4049:Slc23a2
|
UTSW |
2 |
132,060,683 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4084:Slc23a2
|
UTSW |
2 |
132,091,217 (GRCm38) |
nonsense |
probably null |
|
|
R4497:Slc23a2
|
UTSW |
2 |
132,056,782 (GRCm38) |
nonsense |
probably null |
|
|
R4710:Slc23a2
|
UTSW |
2 |
132,056,709 (GRCm38) |
missense |
probably benign |
|
|
R4873:Slc23a2
|
UTSW |
2 |
132,056,880 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R4875:Slc23a2
|
UTSW |
2 |
132,056,880 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R5008:Slc23a2
|
UTSW |
2 |
132,101,494 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5164:Slc23a2
|
UTSW |
2 |
132,075,450 (GRCm38) |
intron |
probably benign |
|
|
R5236:Slc23a2
|
UTSW |
2 |
132,075,584 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6587:Slc23a2
|
UTSW |
2 |
132,078,481 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R6738:Slc23a2
|
UTSW |
2 |
132,078,436 (GRCm38) |
missense |
probably benign |
0.10 |
|
R6960:Slc23a2
|
UTSW |
2 |
132,091,253 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7000:Slc23a2
|
UTSW |
2 |
132,094,203 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7062:Slc23a2
|
UTSW |
2 |
132,091,269 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7293:Slc23a2
|
UTSW |
2 |
132,089,106 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7324:Slc23a2
|
UTSW |
2 |
132,089,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8077:Slc23a2
|
UTSW |
2 |
132,089,172 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R8794:Slc23a2
|
UTSW |
2 |
132,060,709 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8839:Slc23a2
|
UTSW |
2 |
132,101,472 (GRCm38) |
splice site |
silent |
|
|
R8882:Slc23a2
|
UTSW |
2 |
132,091,239 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R9129:Slc23a2
|
UTSW |
2 |
132,078,412 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9252:Slc23a2
|
UTSW |
2 |
132,071,922 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9597:Slc23a2
|
UTSW |
2 |
132,062,178 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9728:Slc23a2
|
UTSW |
2 |
132,058,210 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0011:Slc23a2
|
UTSW |
2 |
132,091,263 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
X0018:Slc23a2
|
UTSW |
2 |
132,066,806 (GRCm38) |
missense |
probably benign |
0.30 |
|
Z1176:Slc23a2
|
UTSW |
2 |
132,060,788 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-06-21 |
Incidental Mutation