Incidental Mutation 'IGL01825:Slc23a1'
ID |
154645 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc23a1
|
Ensembl Gene |
ENSMUSG00000024354 |
Gene Name |
solute carrier family 23 (nucleobase transporters), member 1 |
Synonyms |
Slc23a2, SVCT1, D18Ucla2, YSPL3 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.235)
|
Stock # |
IGL01825
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
35747657-35760297 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 35757256 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 272
(W272R)
|
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: W272R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025212 Gene: ENSMUSG00000024354 AA Change: W272R
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 |
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam30 |
A |
G |
3: 98,069,217 (GRCm39) |
E222G |
probably damaging |
Het |
Aftph |
T |
A |
11: 20,676,569 (GRCm39) |
I347F |
possibly damaging |
Het |
Braf |
T |
C |
6: 39,616,524 (GRCm39) |
D549G |
probably damaging |
Het |
Cnbd2 |
T |
A |
2: 156,180,629 (GRCm39) |
L142Q |
probably damaging |
Het |
Ctbp1 |
C |
T |
5: 33,416,477 (GRCm39) |
|
probably null |
Het |
Cuta |
T |
C |
17: 27,157,438 (GRCm39) |
I98V |
probably benign |
Het |
Dip2a |
A |
T |
10: 76,108,514 (GRCm39) |
C1226* |
probably null |
Het |
Dnah6 |
T |
C |
6: 73,042,759 (GRCm39) |
E3221G |
probably damaging |
Het |
Grm3 |
A |
G |
5: 9,561,600 (GRCm39) |
L750P |
probably damaging |
Het |
Herc1 |
T |
C |
9: 66,307,089 (GRCm39) |
Y970H |
probably benign |
Het |
Hnrnpr |
T |
A |
4: 136,066,850 (GRCm39) |
Y470* |
probably null |
Het |
Kmt2c |
T |
A |
5: 25,515,594 (GRCm39) |
I2750F |
probably damaging |
Het |
Lrig3 |
A |
T |
10: 125,845,886 (GRCm39) |
T772S |
probably damaging |
Het |
Mthfd2 |
T |
C |
6: 83,287,493 (GRCm39) |
T191A |
probably benign |
Het |
Or5p78 |
C |
A |
7: 108,212,261 (GRCm39) |
T249K |
probably damaging |
Het |
Pfkp |
A |
T |
13: 6,671,014 (GRCm39) |
N175K |
probably damaging |
Het |
Plcz1 |
T |
C |
6: 139,949,642 (GRCm39) |
D451G |
probably benign |
Het |
Plxna2 |
T |
A |
1: 194,471,210 (GRCm39) |
C994S |
probably damaging |
Het |
Ptdss1 |
T |
C |
13: 67,135,886 (GRCm39) |
I381T |
probably benign |
Het |
Scgb2b24 |
G |
T |
7: 33,438,652 (GRCm39) |
T20K |
probably damaging |
Het |
Tcf20 |
G |
A |
15: 82,737,167 (GRCm39) |
T1428I |
probably benign |
Het |
Tnfsf9 |
A |
G |
17: 57,414,335 (GRCm39) |
D254G |
possibly damaging |
Het |
Ttc4 |
C |
T |
4: 106,528,816 (GRCm39) |
|
probably null |
Het |
Xdh |
A |
G |
17: 74,198,240 (GRCm39) |
Y1216H |
probably damaging |
Het |
Zbtb21 |
G |
T |
16: 97,753,889 (GRCm39) |
N159K |
possibly damaging |
Het |
|
Other mutations in Slc23a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2014-02-04 |