Incidental Mutation 'R3830:Slc5a12'
| ID |
273931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc5a12
|
| Ensembl Gene |
ENSMUSG00000041644 |
| Gene Name |
solute carrier family 5 (sodium/glucose cotransporter), member 12 |
| Synonyms |
SMCT2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R3830 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
110427643-110478124 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 110463081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 392
(C392*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106655
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045972]
[ENSMUST00000111026]
|
| AlphaFold |
Q49B93 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045972
AA Change: C392*
|
| SMART Domains |
Protein: ENSMUSP00000047340
Gene: ENSMUSG00000041644
AA Change: C392*
| 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
AA Change: C392*
|
| SMART Domains |
Protein: ENSMUSP00000106655
Gene: ENSMUSG00000041644
AA Change: C392*
| 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: ENSMUST00000146664
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.2%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agpat5 |
A |
G |
8: 18,929,621 (GRCm39) |
E250G |
probably benign |
Het |
| Aox4 |
A |
T |
1: 58,294,670 (GRCm39) |
T960S |
probably damaging |
Het |
| Bach2 |
T |
A |
4: 32,563,150 (GRCm39) |
L539H |
probably damaging |
Het |
| Capn1 |
A |
T |
19: 6,044,877 (GRCm39) |
L465Q |
probably damaging |
Het |
| Cd300c |
A |
G |
11: 114,850,453 (GRCm39) |
F117L |
probably benign |
Het |
| Cep104 |
T |
G |
4: 154,069,400 (GRCm39) |
M207R |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,141,163 (GRCm39) |
Y577H |
possibly damaging |
Het |
| Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
| Cplane2 |
C |
T |
4: 140,945,900 (GRCm39) |
R148C |
probably damaging |
Het |
| Cspg4 |
T |
G |
9: 56,804,905 (GRCm39) |
D1905E |
probably damaging |
Het |
| Dhx37 |
T |
C |
5: 125,508,677 (GRCm39) |
K86R |
probably benign |
Het |
| Drd2 |
T |
A |
9: 49,313,443 (GRCm39) |
V204D |
probably damaging |
Het |
| Gclc |
A |
T |
9: 77,699,242 (GRCm39) |
I520L |
probably benign |
Het |
| Gpat3 |
A |
G |
5: 101,032,252 (GRCm39) |
D183G |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,330,618 (GRCm39) |
E563G |
probably benign |
Het |
| Grm8 |
A |
T |
6: 27,761,228 (GRCm39) |
L332* |
probably null |
Het |
| Grpel1 |
T |
A |
5: 36,626,827 (GRCm39) |
N36K |
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,520,643 (GRCm39) |
S198N |
probably benign |
Het |
| Kcna2 |
T |
C |
3: 107,012,112 (GRCm39) |
I231T |
probably benign |
Het |
| Lpcat1 |
T |
C |
13: 73,637,212 (GRCm39) |
I114T |
possibly damaging |
Het |
| Mast4 |
G |
T |
13: 102,875,319 (GRCm39) |
H1350N |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,195,756 (GRCm39) |
|
probably benign |
Het |
| Ntn1 |
C |
G |
11: 68,276,619 (GRCm39) |
D110H |
probably damaging |
Het |
| Or2b11 |
G |
T |
11: 59,462,427 (GRCm39) |
N46K |
probably damaging |
Het |
| Pigb |
T |
C |
9: 72,924,755 (GRCm39) |
N468S |
probably benign |
Het |
| Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
| Plekhg1 |
A |
G |
10: 3,823,400 (GRCm39) |
T123A |
probably damaging |
Het |
| Ptges3l |
T |
C |
11: 101,312,443 (GRCm39) |
*67W |
probably null |
Het |
| Rgs12 |
G |
A |
5: 35,123,359 (GRCm39) |
V381M |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Six2 |
G |
T |
17: 85,992,615 (GRCm39) |
S296Y |
probably damaging |
Het |
| Snx5 |
A |
T |
2: 144,096,821 (GRCm39) |
|
probably null |
Het |
| Svep1 |
A |
G |
4: 58,096,177 (GRCm39) |
L1481P |
probably damaging |
Het |
| Tspan18 |
T |
C |
2: 93,050,453 (GRCm39) |
I57V |
probably benign |
Het |
| Ube3b |
C |
A |
5: 114,538,012 (GRCm39) |
Q368K |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,466,269 (GRCm39) |
K2142N |
probably damaging |
Het |
| Zfp729a |
A |
T |
13: 67,767,997 (GRCm39) |
F744Y |
probably 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 |
|
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'- TAGCTTGGGTTTGCTTAGACCC -3'
(R):5'- CACCTCCTGAAAGTAATTTTGGTTG -3'
Sequencing Primer
(F):5'- GGACTCAAGTTAATTTTACCCAAGG -3'
(R):5'- GCCCTTAGACTAATAGGCAA -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation