Incidental Mutation 'R6552:Slc23a1'
| ID |
521754 |
| 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 |
044677-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.235)
|
| Stock # |
R6552 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
35747657-35760297 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 35755391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 475
(G475C)
|
| 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: G475C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025212
Gene: ENSMUSG00000024354
AA Change: G475C
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang5 |
A |
T |
14: 44,200,254 (GRCm39) |
H106L |
probably benign |
Het |
| Arsk |
A |
G |
13: 76,220,315 (GRCm39) |
Y260H |
probably damaging |
Het |
| Atxn2l |
C |
T |
7: 126,092,993 (GRCm39) |
V833M |
possibly damaging |
Het |
| Bpifa6 |
G |
A |
2: 153,829,078 (GRCm39) |
D202N |
probably damaging |
Het |
| Ccdc103 |
A |
G |
11: 102,774,970 (GRCm39) |
S190G |
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,576,112 (GRCm39) |
V2083I |
probably damaging |
Het |
| Creb5 |
A |
G |
6: 53,662,369 (GRCm39) |
D222G |
probably damaging |
Het |
| Cyp7a1 |
C |
T |
4: 6,272,361 (GRCm39) |
W284* |
probably null |
Het |
| Dnmt3a |
T |
C |
12: 3,957,623 (GRCm39) |
V868A |
probably damaging |
Het |
| Efr3a |
A |
G |
15: 65,729,339 (GRCm39) |
D680G |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Epb41l4a |
A |
G |
18: 34,012,032 (GRCm39) |
Y163H |
probably damaging |
Het |
| Gabra1 |
A |
T |
11: 42,037,926 (GRCm39) |
S231T |
probably damaging |
Het |
| Golga4 |
T |
A |
9: 118,343,299 (GRCm39) |
F42I |
probably damaging |
Het |
| Greb1l |
G |
A |
18: 10,541,814 (GRCm39) |
S1187N |
probably benign |
Het |
| Haspin |
A |
G |
11: 73,028,390 (GRCm39) |
V233A |
probably benign |
Het |
| Il34 |
T |
A |
8: 111,469,059 (GRCm39) |
K187I |
probably benign |
Het |
| Kcnn2 |
A |
G |
18: 45,693,165 (GRCm39) |
H247R |
probably benign |
Het |
| Klf5 |
T |
C |
14: 99,539,078 (GRCm39) |
S84P |
probably benign |
Het |
| Lama5 |
G |
T |
2: 179,822,947 (GRCm39) |
P2773Q |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,311 (GRCm39) |
M404V |
possibly damaging |
Het |
| Lrp6 |
A |
T |
6: 134,431,692 (GRCm39) |
S1473T |
probably benign |
Het |
| Lsm3 |
GATATATA |
GATATATATA |
6: 91,496,617 (GRCm39) |
|
probably null |
Het |
| Mn1 |
T |
C |
5: 111,568,753 (GRCm39) |
S908P |
possibly damaging |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Or2ag13 |
TGAAGCC |
T |
7: 106,313,850 (GRCm39) |
|
probably benign |
Het |
| Pcdhb2 |
A |
T |
18: 37,429,046 (GRCm39) |
M340L |
probably benign |
Het |
| Pex1 |
G |
A |
5: 3,673,953 (GRCm39) |
E748K |
probably damaging |
Het |
| Qrich1 |
T |
C |
9: 108,411,504 (GRCm39) |
V343A |
possibly damaging |
Het |
| Rho |
A |
G |
6: 115,908,709 (GRCm39) |
|
probably null |
Het |
| Sdhaf4 |
C |
A |
1: 24,044,687 (GRCm39) |
|
probably benign |
Het |
| Sec24d |
A |
G |
3: 123,084,201 (GRCm39) |
I127V |
probably benign |
Het |
| Siae |
T |
C |
9: 37,557,696 (GRCm39) |
V501A |
possibly damaging |
Het |
| Skint3 |
T |
C |
4: 112,147,482 (GRCm39) |
Y402H |
possibly damaging |
Het |
| Skint6 |
A |
C |
4: 112,924,687 (GRCm39) |
V515G |
possibly damaging |
Het |
| Smad9 |
A |
G |
3: 54,690,167 (GRCm39) |
Y129C |
probably damaging |
Het |
| Snw1 |
A |
G |
12: 87,506,189 (GRCm39) |
|
probably null |
Het |
| Spice1 |
A |
G |
16: 44,199,396 (GRCm39) |
D616G |
possibly damaging |
Het |
| Stam2 |
T |
C |
2: 52,598,239 (GRCm39) |
|
probably null |
Het |
| Sumo3 |
G |
T |
10: 77,442,091 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
G |
12: 75,937,015 (GRCm39) |
N204K |
possibly damaging |
Het |
| Tmem200a |
T |
C |
10: 25,869,381 (GRCm39) |
N296S |
probably damaging |
Het |
| Ttbk1 |
G |
T |
17: 46,789,888 (GRCm39) |
T125N |
probably benign |
Het |
| Ubr2 |
G |
T |
17: 47,277,194 (GRCm39) |
|
probably null |
Het |
| Vmn1r80 |
C |
T |
7: 11,927,684 (GRCm39) |
L265F |
probably damaging |
Het |
| Vwa8 |
A |
T |
14: 79,435,662 (GRCm39) |
T1791S |
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 |
|
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 |
|
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'- ACCTTCAAGCCTGTCTGTAC -3'
(R):5'- TGGGAGGAATGTTCTGCACTC -3'
Sequencing Primer
(F):5'- CCATCTTTGGGGAGAAACTTCTGAC -3'
(R):5'- AGGAATGTTCTGCACTCTTTTTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation