Incidental Mutation 'R1342:Slc5a12'
ID |
156385 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc5a12
|
Ensembl Gene |
ENSMUSG00000041644 |
Gene Name |
solute carrier family 5 (sodium/glucose cotransporter), member 12 |
Synonyms |
SMCT2 |
MMRRC Submission |
039407-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R1342 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
110427643-110478124 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to C
at 110447435 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106655
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045972]
[ENSMUST00000111026]
|
AlphaFold |
Q49B93 |
Predicted Effect |
probably null
Transcript: ENSMUST00000045972
|
SMART Domains |
Protein: ENSMUSP00000047340 Gene: ENSMUSG00000041644
Domain | Start | End | E-Value | Type |
Pfam:SSF
|
41 |
449 |
6.5e-43 |
PFAM |
transmembrane domain
|
507 |
529 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000111026
|
SMART Domains |
Protein: ENSMUSP00000106655 Gene: ENSMUSG00000041644
Domain | Start | End | E-Value | Type |
Pfam:SSF
|
41 |
445 |
6.2e-48 |
PFAM |
transmembrane domain
|
503 |
525 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138497
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146664
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.6%
|
Validation Efficiency |
100% (43/43) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Normal blood lactate is maintained at about 1.5 mM, and little filtered lactate is excreted in urine. Reabsorption of lactate is mediated by the low-affinity Na(+)-coupled lactate transporter SLC5A12 in the initial part of the proximal tubule and by the high-affinity Na(+)-coupled lactate transporter SLC5A8 (MIM 608044) in the distal proximal tubule (Gopal et al., 2007 [PubMed 17692818]).[supplied by OMIM, Dec 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp10a |
G |
T |
7: 58,465,894 (GRCm39) |
|
probably benign |
Het |
B3gnt9 |
T |
C |
8: 105,980,956 (GRCm39) |
E144G |
probably null |
Het |
Bcl9 |
G |
T |
3: 97,113,042 (GRCm39) |
Q1138K |
possibly damaging |
Het |
C6 |
T |
C |
15: 4,769,231 (GRCm39) |
|
probably benign |
Het |
Ccl4 |
A |
G |
11: 83,554,402 (GRCm39) |
|
probably benign |
Het |
Cdc73 |
A |
G |
1: 143,578,230 (GRCm39) |
|
probably null |
Het |
Cemip |
A |
T |
7: 83,593,283 (GRCm39) |
L1140* |
probably null |
Het |
Chd4 |
C |
A |
6: 125,074,151 (GRCm39) |
P8Q |
probably benign |
Het |
Col27a1 |
G |
A |
4: 63,175,351 (GRCm39) |
|
probably null |
Het |
Col9a1 |
G |
A |
1: 24,262,701 (GRCm39) |
|
probably null |
Het |
Colgalt1 |
C |
T |
8: 72,070,804 (GRCm39) |
T232I |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,939,974 (GRCm39) |
D1640G |
probably damaging |
Het |
Dot1l |
T |
G |
10: 80,621,859 (GRCm39) |
C504G |
probably benign |
Het |
Gm9892 |
T |
C |
8: 52,649,458 (GRCm39) |
T212A |
probably benign |
Het |
Hjurp |
G |
A |
1: 88,205,090 (GRCm39) |
|
probably benign |
Het |
Ifnar2 |
A |
G |
16: 91,200,809 (GRCm39) |
D350G |
possibly damaging |
Het |
Ift172 |
T |
C |
5: 31,419,210 (GRCm39) |
I1144V |
probably benign |
Het |
Ipo7 |
A |
T |
7: 109,629,011 (GRCm39) |
N94Y |
possibly damaging |
Het |
Irag1 |
T |
A |
7: 110,487,252 (GRCm39) |
M699L |
probably benign |
Het |
Mapkbp1 |
C |
A |
2: 119,829,015 (GRCm39) |
A57D |
possibly damaging |
Het |
Mmd |
T |
A |
11: 90,167,676 (GRCm39) |
I235N |
probably benign |
Het |
Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
Palld |
A |
G |
8: 61,975,916 (GRCm39) |
|
probably null |
Het |
Parp4 |
G |
A |
14: 56,827,854 (GRCm39) |
E202K |
probably damaging |
Het |
Pclo |
C |
A |
5: 14,732,191 (GRCm39) |
|
probably benign |
Het |
Pde8a |
T |
C |
7: 80,952,042 (GRCm39) |
|
probably null |
Het |
Pdgfrb |
T |
A |
18: 61,198,952 (GRCm39) |
L370* |
probably null |
Het |
Phf2 |
A |
T |
13: 48,957,953 (GRCm39) |
S1020R |
unknown |
Het |
Pik3r4 |
T |
A |
9: 105,528,100 (GRCm39) |
|
probably null |
Het |
Plxnb1 |
C |
A |
9: 108,929,720 (GRCm39) |
P192Q |
possibly damaging |
Het |
Ppil3 |
A |
T |
1: 58,480,037 (GRCm39) |
I46N |
probably damaging |
Het |
Prr14l |
A |
C |
5: 32,987,604 (GRCm39) |
C630W |
probably damaging |
Het |
Rfx5 |
A |
G |
3: 94,865,723 (GRCm39) |
I341V |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,581,148 (GRCm39) |
K2895E |
probably damaging |
Het |
Slc8a3 |
T |
C |
12: 81,362,790 (GRCm39) |
T10A |
probably damaging |
Het |
Ss18 |
A |
G |
18: 14,769,595 (GRCm39) |
Y321H |
unknown |
Het |
Sspo |
A |
G |
6: 48,438,569 (GRCm39) |
N1546D |
probably benign |
Het |
Thbs4 |
G |
A |
13: 92,888,925 (GRCm39) |
L923F |
probably damaging |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
|
Other mutations in Slc5a12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01132:Slc5a12
|
APN |
2 |
110,428,167 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01337:Slc5a12
|
APN |
2 |
110,450,718 (GRCm39) |
nonsense |
probably null |
|
IGL01830:Slc5a12
|
APN |
2 |
110,428,151 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02456:Slc5a12
|
APN |
2 |
110,447,179 (GRCm39) |
splice site |
probably benign |
|
IGL02619:Slc5a12
|
APN |
2 |
110,471,201 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02832:Slc5a12
|
APN |
2 |
110,471,160 (GRCm39) |
missense |
probably benign |
|
IGL02890:Slc5a12
|
APN |
2 |
110,454,478 (GRCm39) |
splice site |
probably benign |
|
IGL03058:Slc5a12
|
APN |
2 |
110,471,137 (GRCm39) |
missense |
probably benign |
0.23 |
R0607:Slc5a12
|
UTSW |
2 |
110,463,088 (GRCm39) |
missense |
probably benign |
0.30 |
R1532:Slc5a12
|
UTSW |
2 |
110,440,483 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1992:Slc5a12
|
UTSW |
2 |
110,452,089 (GRCm39) |
missense |
probably benign |
0.04 |
R2354:Slc5a12
|
UTSW |
2 |
110,439,777 (GRCm39) |
missense |
probably damaging |
0.97 |
R3830:Slc5a12
|
UTSW |
2 |
110,463,081 (GRCm39) |
nonsense |
probably null |
|
R4728:Slc5a12
|
UTSW |
2 |
110,474,769 (GRCm39) |
nonsense |
probably null |
|
R4822:Slc5a12
|
UTSW |
2 |
110,452,085 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4937:Slc5a12
|
UTSW |
2 |
110,450,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R5860:Slc5a12
|
UTSW |
2 |
110,427,969 (GRCm39) |
missense |
probably benign |
0.30 |
R6075:Slc5a12
|
UTSW |
2 |
110,447,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R6168:Slc5a12
|
UTSW |
2 |
110,447,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R6853:Slc5a12
|
UTSW |
2 |
110,454,539 (GRCm39) |
missense |
probably benign |
0.37 |
R6870:Slc5a12
|
UTSW |
2 |
110,472,155 (GRCm39) |
missense |
probably damaging |
0.99 |
R7014:Slc5a12
|
UTSW |
2 |
110,474,709 (GRCm39) |
missense |
probably benign |
0.00 |
R7135:Slc5a12
|
UTSW |
2 |
110,447,059 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8936:Slc5a12
|
UTSW |
2 |
110,467,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R9000:Slc5a12
|
UTSW |
2 |
110,454,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R9145:Slc5a12
|
UTSW |
2 |
110,471,242 (GRCm39) |
missense |
probably benign |
0.21 |
R9362:Slc5a12
|
UTSW |
2 |
110,447,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCGGCTACACATTGTTGAGTACG -3'
(R):5'- TGAAGCAGGCATCCATCTTCCTCC -3'
Sequencing Primer
(F):5'- GACGGCACACTTTTTGGACA -3'
(R):5'- CCCTCAACACATACTTTCATacac -3'
|
Posted On |
2014-02-11 |