Incidental Mutation 'R5842:Slc23a1'
ID |
450518 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc23a1
|
Ensembl Gene |
ENSMUSG00000024354 |
Gene Name |
solute carrier family 23 (nucleobase transporters), member 1 |
Synonyms |
Slc23a2, SVCT1, D18Ucla2, YSPL3 |
MMRRC Submission |
043223-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.235)
|
Stock # |
R5842 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
35747657-35760297 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 35755935 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 393
(I393F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025212
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025212]
[ENSMUST00000150877]
|
AlphaFold |
Q9Z2J0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025212
AA Change: I393F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000025212 Gene: ENSMUSG00000024354 AA Change: I393F
Domain | Start | End | E-Value | Type |
Pfam:Xan_ur_permease
|
50 |
484 |
4.9e-91 |
PFAM |
transmembrane domain
|
496 |
518 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123242
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150877
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153293
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.3%
|
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 transporters. The encoded protein is active in bulk vitamin C transport involving epithelial surfaces. Previously, this gene had an official symbol of SLC23A2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal ascorbate homeostasis and early postnatal lethality associated with lethargy and lack of gastric milk. Heterozygous mice of homozgous dams exhibit a similar phenotype. [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 |
Alpk1 |
G |
A |
3: 127,474,618 (GRCm39) |
H462Y |
probably damaging |
Het |
Atp12a |
T |
C |
14: 56,615,747 (GRCm39) |
I503T |
probably damaging |
Het |
Bmp6 |
T |
A |
13: 38,530,543 (GRCm39) |
V212D |
probably damaging |
Het |
Col7a1 |
A |
G |
9: 108,794,883 (GRCm39) |
D1479G |
unknown |
Het |
Eea1 |
A |
G |
10: 95,853,986 (GRCm39) |
D548G |
probably damaging |
Het |
Eif5a2 |
T |
C |
3: 28,848,546 (GRCm39) |
V135A |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fstl5 |
T |
G |
3: 76,229,590 (GRCm39) |
N130K |
possibly damaging |
Het |
Gatm |
T |
C |
2: 122,434,108 (GRCm39) |
I147V |
probably benign |
Het |
Jakmip1 |
C |
T |
5: 37,264,612 (GRCm39) |
R418C |
probably damaging |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Matn2 |
A |
T |
15: 34,399,202 (GRCm39) |
D363V |
probably damaging |
Het |
Mov10 |
G |
A |
3: 104,706,695 (GRCm39) |
|
probably benign |
Het |
Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
Nbas |
T |
C |
12: 13,319,267 (GRCm39) |
|
probably null |
Het |
Nlgn1 |
A |
T |
3: 26,187,892 (GRCm39) |
|
probably null |
Het |
Nnt |
T |
A |
13: 119,531,283 (GRCm39) |
I155F |
probably damaging |
Het |
Or5p80 |
A |
G |
7: 108,229,859 (GRCm39) |
Y220C |
probably benign |
Het |
Pacc1 |
G |
T |
1: 191,078,986 (GRCm39) |
C223F |
probably damaging |
Het |
Parp9 |
A |
G |
16: 35,763,778 (GRCm39) |
I19V |
possibly damaging |
Het |
Pcdha11 |
T |
A |
18: 37,144,337 (GRCm39) |
S143T |
possibly damaging |
Het |
Pdzph1 |
T |
G |
17: 59,281,407 (GRCm39) |
S292R |
possibly damaging |
Het |
Pmvk |
T |
A |
3: 89,374,927 (GRCm39) |
V108D |
probably damaging |
Het |
Rc3h2 |
T |
C |
2: 37,268,383 (GRCm39) |
T916A |
possibly damaging |
Het |
Slc4a7 |
T |
A |
14: 14,778,866 (GRCm38) |
M925K |
probably damaging |
Het |
Spag17 |
A |
G |
3: 99,846,566 (GRCm39) |
D30G |
possibly damaging |
Het |
Syde2 |
A |
G |
3: 145,704,775 (GRCm39) |
I576V |
probably benign |
Het |
Tgm2 |
C |
T |
2: 157,985,001 (GRCm39) |
R35H |
probably damaging |
Het |
Tiam1 |
A |
G |
16: 89,652,887 (GRCm39) |
V745A |
probably benign |
Het |
Timeless |
T |
C |
10: 128,083,328 (GRCm39) |
|
probably null |
Het |
Trp53tg5 |
T |
C |
2: 164,313,289 (GRCm39) |
K129E |
possibly damaging |
Het |
Ttc6 |
T |
C |
12: 57,783,802 (GRCm39) |
Y1754H |
probably damaging |
Het |
Ube4b |
G |
T |
4: 149,415,887 (GRCm39) |
T1069N |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,219,545 (GRCm39) |
S294L |
possibly damaging |
Het |
Vgll2 |
T |
C |
10: 51,901,388 (GRCm39) |
L106P |
probably damaging |
Het |
Vsig10l |
T |
A |
7: 43,118,396 (GRCm39) |
V798E |
probably benign |
Het |
Wdr73 |
A |
T |
7: 80,541,458 (GRCm39) |
H361Q |
probably damaging |
Het |
Xrcc3 |
A |
T |
12: 111,770,964 (GRCm39) |
F322I |
possibly damaging |
Het |
Ypel1 |
T |
C |
16: 16,912,851 (GRCm39) |
T26A |
possibly damaging |
Het |
|
Other mutations in Slc23a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01825:Slc23a1
|
APN |
18 |
35,757,256 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01969:Slc23a1
|
APN |
18 |
35,757,807 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0360:Slc23a1
|
UTSW |
18 |
35,756,032 (GRCm39) |
splice site |
probably benign |
|
R1296:Slc23a1
|
UTSW |
18 |
35,755,676 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1720:Slc23a1
|
UTSW |
18 |
35,758,904 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2107:Slc23a1
|
UTSW |
18 |
35,758,879 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2140:Slc23a1
|
UTSW |
18 |
35,759,487 (GRCm39) |
missense |
unknown |
|
R4694:Slc23a1
|
UTSW |
18 |
35,752,633 (GRCm39) |
missense |
probably damaging |
0.99 |
R5298:Slc23a1
|
UTSW |
18 |
35,755,563 (GRCm39) |
critical splice donor site |
probably null |
|
R5593:Slc23a1
|
UTSW |
18 |
35,755,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R5629:Slc23a1
|
UTSW |
18 |
35,759,545 (GRCm39) |
missense |
probably benign |
0.00 |
R6229:Slc23a1
|
UTSW |
18 |
35,752,577 (GRCm39) |
missense |
probably benign |
0.08 |
R6233:Slc23a1
|
UTSW |
18 |
35,757,497 (GRCm39) |
missense |
probably damaging |
1.00 |
R6268:Slc23a1
|
UTSW |
18 |
35,752,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R6552:Slc23a1
|
UTSW |
18 |
35,755,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R6966:Slc23a1
|
UTSW |
18 |
35,758,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R7070:Slc23a1
|
UTSW |
18 |
35,754,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R7586:Slc23a1
|
UTSW |
18 |
35,758,891 (GRCm39) |
missense |
probably damaging |
0.99 |
R7849:Slc23a1
|
UTSW |
18 |
35,757,554 (GRCm39) |
missense |
probably benign |
0.00 |
R7884:Slc23a1
|
UTSW |
18 |
35,759,002 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8322:Slc23a1
|
UTSW |
18 |
35,755,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R8324:Slc23a1
|
UTSW |
18 |
35,755,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R8341:Slc23a1
|
UTSW |
18 |
35,755,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R8342:Slc23a1
|
UTSW |
18 |
35,755,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R8444:Slc23a1
|
UTSW |
18 |
35,757,489 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8753:Slc23a1
|
UTSW |
18 |
35,752,631 (GRCm39) |
missense |
probably benign |
0.01 |
R9763:Slc23a1
|
UTSW |
18 |
35,755,364 (GRCm39) |
missense |
probably damaging |
0.98 |
X0065:Slc23a1
|
UTSW |
18 |
35,759,412 (GRCm39) |
missense |
unknown |
|
Z1088:Slc23a1
|
UTSW |
18 |
35,757,561 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATACCTGCACCGTACTGCAC -3'
(R):5'- CTGTCTGTACAGCTTCAGGG -3'
Sequencing Primer
(F):5'- ATTAGGTGAATAAATGGACTCCAGC -3'
(R):5'- GGGGTATGTAGCAGATGGAC -3'
|
Posted On |
2016-12-20 |