Incidental Mutation 'R5298:Slc23a1'
ID |
500926 |
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 |
042881-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.235)
|
Stock # |
R5298 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
35747657-35760297 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 35755563 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025212
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025212]
[ENSMUST00000025212]
[ENSMUST00000150877]
|
AlphaFold |
Q9Z2J0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000025212
|
SMART Domains |
Protein: ENSMUSP00000025212 Gene: ENSMUSG00000024354
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 |
probably null
Transcript: ENSMUST00000025212
|
SMART Domains |
Protein: ENSMUSP00000025212 Gene: ENSMUSG00000024354
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: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr4 |
A |
G |
9: 103,976,086 (GRCm39) |
V287A |
possibly damaging |
Het |
Adat2 |
A |
G |
10: 13,432,650 (GRCm39) |
N51D |
probably benign |
Het |
Alms1-ps1 |
T |
C |
6: 85,729,100 (GRCm39) |
|
noncoding transcript |
Het |
Ccdc97 |
A |
G |
7: 25,415,432 (GRCm39) |
V12A |
probably damaging |
Het |
Cdcp2 |
T |
C |
4: 106,964,182 (GRCm39) |
V344A |
probably benign |
Het |
Clasp1 |
A |
G |
1: 118,475,650 (GRCm39) |
D929G |
possibly damaging |
Het |
Clip4 |
A |
G |
17: 72,141,220 (GRCm39) |
N525D |
probably damaging |
Het |
Csde1 |
T |
A |
3: 102,954,525 (GRCm39) |
|
probably null |
Het |
D330020A13Rik |
T |
C |
6: 120,271,777 (GRCm39) |
|
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
Fuca1 |
C |
A |
4: 135,664,237 (GRCm39) |
Y374* |
probably null |
Het |
Gle1 |
C |
G |
2: 29,838,955 (GRCm39) |
P457A |
probably benign |
Het |
Hadhb |
T |
C |
5: 30,382,009 (GRCm39) |
|
probably null |
Het |
Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
Lef1 |
A |
T |
3: 130,988,316 (GRCm39) |
R294S |
possibly damaging |
Het |
Lrriq4 |
G |
T |
3: 30,699,481 (GRCm39) |
M1I |
probably null |
Het |
Magi2 |
T |
C |
5: 20,774,160 (GRCm39) |
S884P |
probably damaging |
Het |
Mon2 |
A |
G |
10: 122,846,511 (GRCm39) |
I1353T |
probably benign |
Het |
Or4c127 |
T |
A |
2: 89,832,804 (GRCm39) |
L18Q |
possibly damaging |
Het |
Or5p81 |
A |
G |
7: 108,267,279 (GRCm39) |
I219V |
probably benign |
Het |
Parg |
C |
A |
14: 31,924,210 (GRCm39) |
A3E |
probably damaging |
Het |
Per3 |
A |
T |
4: 151,113,666 (GRCm39) |
D297E |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,367,442 (GRCm39) |
Y780F |
probably benign |
Het |
Plcg2 |
A |
G |
8: 118,331,988 (GRCm39) |
Y858C |
probably benign |
Het |
Prkca |
A |
T |
11: 107,903,510 (GRCm39) |
N287K |
probably damaging |
Het |
Qsox2 |
A |
C |
2: 26,104,074 (GRCm39) |
S484A |
probably damaging |
Het |
Reep4 |
G |
A |
14: 70,785,637 (GRCm39) |
G225D |
possibly damaging |
Het |
Scn4a |
T |
C |
11: 106,230,212 (GRCm39) |
E532G |
probably damaging |
Het |
Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
Sowaha |
C |
T |
11: 53,370,355 (GRCm39) |
R127Q |
probably benign |
Het |
Spag9 |
T |
C |
11: 93,990,961 (GRCm39) |
W626R |
probably damaging |
Het |
Tasor2 |
T |
C |
13: 3,645,613 (GRCm39) |
|
probably null |
Het |
Trim45 |
A |
G |
3: 100,832,787 (GRCm39) |
D340G |
probably damaging |
Het |
Vmn1r193 |
A |
T |
13: 22,403,725 (GRCm39) |
F89Y |
probably damaging |
Het |
Zfp507 |
T |
C |
7: 35,475,421 (GRCm39) |
N931D |
probably 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 |
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 |
R5842:Slc23a1
|
UTSW |
18 |
35,755,935 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- TAGCACCTGGGTTGGAATCC -3'
(R):5'- TGAGAGCATCCCACCTTTATCC -3'
Sequencing Primer
(F):5'- CTGGGTTGGAATCCAGGTAG -3'
(R):5'- GGAGTCCATTTATTCACCTAATACC -3'
|
Posted On |
2017-12-01 |