Incidental Mutation 'IGL01969:Slc23a1'
| ID |
181633 |
| 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? |
Possibly non essential
(E-score: 0.263)
|
| Stock # |
IGL01969
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
35747657-35760297 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35757807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 199
(V199D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025212]
[ENSMUST00000150877]
|
| AlphaFold |
Q9Z2J0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025212
AA Change: V199D
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000025212
Gene: ENSMUSG00000024354
AA Change: V199D
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l1 |
C |
A |
8: 124,207,170 (GRCm39) |
P74H |
probably damaging |
Het |
| Aire |
T |
A |
10: 77,878,816 (GRCm39) |
D77V |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,746,872 (GRCm39) |
H571L |
possibly damaging |
Het |
| Apol10b |
T |
C |
15: 77,472,885 (GRCm39) |
|
probably null |
Het |
| Cacna2d2 |
A |
T |
9: 107,386,415 (GRCm39) |
M181L |
probably benign |
Het |
| Ccnl1 |
T |
C |
3: 65,855,908 (GRCm39) |
|
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,760,138 (GRCm39) |
E1961G |
possibly damaging |
Het |
| Dnajc12 |
C |
A |
10: 63,231,609 (GRCm39) |
H42N |
probably damaging |
Het |
| Eml4 |
T |
C |
17: 83,753,409 (GRCm39) |
V248A |
possibly damaging |
Het |
| Epha10 |
A |
C |
4: 124,779,670 (GRCm39) |
K172T |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,405,636 (GRCm39) |
Y796H |
probably damaging |
Het |
| Gpr176 |
A |
C |
2: 118,110,118 (GRCm39) |
F380L |
probably damaging |
Het |
| Guca1a |
A |
T |
17: 47,711,268 (GRCm39) |
M26K |
probably damaging |
Het |
| Gucy2g |
T |
G |
19: 55,215,870 (GRCm39) |
M501L |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,835,579 (GRCm39) |
|
probably benign |
Het |
| Itgav |
A |
G |
2: 83,633,627 (GRCm39) |
E1028G |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,354,652 (GRCm39) |
T179A |
probably damaging |
Het |
| Lpin2 |
A |
G |
17: 71,538,502 (GRCm39) |
T383A |
probably benign |
Het |
| Midn |
A |
G |
10: 79,991,093 (GRCm39) |
T325A |
probably benign |
Het |
| Mpdz |
A |
G |
4: 81,276,961 (GRCm39) |
Y788H |
probably damaging |
Het |
| Muc1 |
A |
T |
3: 89,139,313 (GRCm39) |
D571V |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,302,499 (GRCm39) |
H316L |
probably benign |
Het |
| Nagpa |
T |
C |
16: 5,013,753 (GRCm39) |
K362E |
probably benign |
Het |
| Ola1 |
G |
A |
2: 72,930,490 (GRCm39) |
A266V |
probably benign |
Het |
| Or1e33 |
T |
C |
11: 73,738,435 (GRCm39) |
N172S |
possibly damaging |
Het |
| Or4a47 |
A |
G |
2: 89,666,064 (GRCm39) |
I75T |
probably benign |
Het |
| Or5b97 |
C |
A |
19: 12,878,416 (GRCm39) |
A243S |
possibly damaging |
Het |
| Otof |
A |
G |
5: 30,539,827 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
A |
C |
16: 17,196,347 (GRCm39) |
V105G |
probably benign |
Het |
| Plppr4 |
G |
T |
3: 117,122,008 (GRCm39) |
T190K |
probably damaging |
Het |
| Pnpla3 |
G |
A |
15: 84,063,425 (GRCm39) |
A268T |
probably benign |
Het |
| Ppp6r2 |
C |
T |
15: 89,159,713 (GRCm39) |
H467Y |
probably damaging |
Het |
| Prkd2 |
C |
T |
7: 16,599,682 (GRCm39) |
T715M |
probably damaging |
Het |
| Rusc2 |
A |
G |
4: 43,415,738 (GRCm39) |
N348S |
probably benign |
Het |
| Ska3 |
A |
G |
14: 58,049,119 (GRCm39) |
V284A |
probably benign |
Het |
| Slc6a13 |
T |
C |
6: 121,312,601 (GRCm39) |
L445P |
probably damaging |
Het |
| Smo |
A |
T |
6: 29,755,171 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
A |
G |
1: 36,864,541 (GRCm39) |
L564S |
possibly damaging |
Het |
| Ttc23l |
G |
A |
15: 10,551,520 (GRCm39) |
Q69* |
probably null |
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 |
|
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 |
2014-05-07 |
Incidental Mutation