Incidental Mutation 'R6075:Slc5a12'
ID |
482684 |
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 |
044236-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R6075 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
110427643-110478124 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 110447092 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 200
(L200P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106655
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045972]
[ENSMUST00000111026]
|
AlphaFold |
Q49B93 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045972
AA Change: L200P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000047340 Gene: ENSMUSG00000041644 AA Change: L200P
Domain | Start | End | E-Value | Type |
Pfam:SSF
|
41 |
449 |
6.5e-43 |
PFAM |
transmembrane domain
|
507 |
529 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111026
AA Change: L200P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106655 Gene: ENSMUSG00000041644 AA Change: L200P
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
Validation Efficiency |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Areg |
A |
T |
5: 91,291,456 (GRCm39) |
K133M |
probably damaging |
Het |
Atxn2l |
A |
T |
7: 126,091,689 (GRCm39) |
D1076E |
possibly damaging |
Het |
Barhl1 |
T |
C |
2: 28,805,231 (GRCm39) |
Y154C |
probably damaging |
Het |
BC048507 |
A |
G |
13: 68,011,823 (GRCm39) |
T67A |
probably benign |
Het |
Cacna1g |
T |
A |
11: 94,307,491 (GRCm39) |
I1746F |
probably damaging |
Het |
Ccdc34 |
T |
C |
2: 109,874,580 (GRCm39) |
I313T |
possibly damaging |
Het |
Cma1 |
T |
A |
14: 56,179,771 (GRCm39) |
I138F |
probably damaging |
Het |
Col5a2 |
A |
G |
1: 45,542,008 (GRCm39) |
S23P |
unknown |
Het |
Csmd2 |
C |
A |
4: 128,380,658 (GRCm39) |
S2071R |
probably benign |
Het |
Cyp2j11 |
T |
G |
4: 96,233,322 (GRCm39) |
N125H |
probably benign |
Het |
Dchs2 |
A |
G |
3: 83,262,368 (GRCm39) |
R2879G |
possibly damaging |
Het |
Dnah11 |
A |
T |
12: 118,068,586 (GRCm39) |
C1591S |
probably damaging |
Het |
Dock9 |
C |
T |
14: 121,783,385 (GRCm39) |
R2038H |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fbxo21 |
G |
A |
5: 118,126,948 (GRCm39) |
R233H |
probably damaging |
Het |
Firrm |
T |
C |
1: 163,805,656 (GRCm39) |
Y316C |
probably damaging |
Het |
Gm6526 |
A |
G |
14: 43,986,331 (GRCm39) |
I86V |
probably damaging |
Het |
Gpr107 |
T |
A |
2: 31,042,384 (GRCm39) |
V5E |
probably benign |
Het |
Hat1 |
A |
T |
2: 71,240,585 (GRCm39) |
D93V |
probably benign |
Het |
Kctd21 |
T |
A |
7: 96,996,614 (GRCm39) |
L29Q |
probably damaging |
Het |
Kl |
C |
G |
5: 150,876,466 (GRCm39) |
F95L |
probably damaging |
Het |
Lsamp |
A |
G |
16: 41,954,788 (GRCm39) |
K229E |
probably benign |
Het |
Mcm5 |
A |
G |
8: 75,840,825 (GRCm39) |
D210G |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,689,581 (GRCm39) |
V930A |
possibly damaging |
Het |
Megf6 |
T |
A |
4: 154,347,056 (GRCm39) |
C652* |
probably null |
Het |
Nae1 |
A |
T |
8: 105,251,001 (GRCm39) |
L196H |
possibly damaging |
Het |
Ncor1 |
G |
T |
11: 62,208,675 (GRCm39) |
D156E |
probably damaging |
Het |
Nop14 |
A |
T |
5: 34,817,235 (GRCm39) |
V52E |
probably damaging |
Het |
Nova2 |
G |
A |
7: 18,691,794 (GRCm39) |
A244T |
unknown |
Het |
Parp14 |
A |
T |
16: 35,677,389 (GRCm39) |
C860S |
probably damaging |
Het |
Ptpn4 |
T |
C |
1: 119,692,866 (GRCm39) |
Y161C |
probably damaging |
Het |
Ptpn9 |
T |
A |
9: 56,968,430 (GRCm39) |
M590K |
probably benign |
Het |
Ptprq |
A |
G |
10: 107,361,621 (GRCm39) |
I2130T |
probably damaging |
Het |
Pudp |
C |
A |
18: 50,701,299 (GRCm39) |
G145W |
probably damaging |
Het |
Pxk |
A |
G |
14: 8,150,964 (GRCm38) |
K423R |
probably benign |
Het |
Ryr1 |
A |
G |
7: 28,786,863 (GRCm39) |
S1584P |
probably damaging |
Het |
Scap |
G |
A |
9: 110,207,845 (GRCm39) |
R518H |
probably damaging |
Het |
Sntg1 |
T |
A |
1: 8,749,338 (GRCm39) |
*72Y |
probably null |
Het |
Speer4f1 |
A |
C |
5: 17,684,482 (GRCm39) |
Q170P |
possibly damaging |
Het |
Taar7d |
A |
C |
10: 23,903,558 (GRCm39) |
I147L |
probably benign |
Het |
Tet2 |
T |
C |
3: 133,177,196 (GRCm39) |
K1284E |
possibly damaging |
Het |
Trpm2 |
A |
C |
10: 77,770,877 (GRCm39) |
|
probably null |
Het |
Washc2 |
T |
A |
6: 116,204,327 (GRCm39) |
S412T |
probably benign |
Het |
Zfyve26 |
A |
G |
12: 79,340,628 (GRCm39) |
V82A |
possibly damaging |
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 |
R1342:Slc5a12
|
UTSW |
2 |
110,447,435 (GRCm39) |
splice site |
probably null |
|
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 |
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'- GGTCAGAATGAGTTCCCATGTG -3'
(R):5'- GTGCCGTCTTAGAGGATCTACATC -3'
|
Posted On |
2017-07-14 |