Incidental Mutation 'R9362:Slc5a12'
| ID |
708735 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R9362 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
110427643-110478124 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 110447044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 184
(T184I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045972]
[ENSMUST00000111026]
|
| AlphaFold |
Q49B93 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045972
AA Change: T184I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000047340
Gene: ENSMUSG00000041644
AA Change: T184I
| 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: T184I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106655
Gene: ENSMUSG00000041644
AA Change: T184I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
41 |
445 |
6.2e-48 |
PFAM |
|
transmembrane domain
|
503 |
525 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (41/41) |
| 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 |
|---|
| Adamts20 |
T |
A |
15: 94,236,626 (GRCm39) |
N798I |
possibly damaging |
Het |
| Ahdc1 |
G |
A |
4: 132,790,348 (GRCm39) |
V530I |
probably benign |
Het |
| Arhgef17 |
A |
C |
7: 100,580,165 (GRCm39) |
L261R |
probably benign |
Het |
| Bcr |
C |
A |
10: 74,993,023 (GRCm39) |
N839K |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,011,162 (GRCm39) |
T1786A |
probably benign |
Het |
| Bmpr1a |
A |
G |
14: 34,156,360 (GRCm39) |
I169T |
probably benign |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,453,922 (GRCm39) |
L1695Q |
probably null |
Het |
| Cnr1 |
T |
C |
4: 33,944,038 (GRCm39) |
I142T |
probably damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Elmod1 |
T |
A |
9: 53,833,304 (GRCm39) |
D167V |
possibly damaging |
Het |
| Fam136a |
C |
T |
6: 86,345,855 (GRCm39) |
T124I |
possibly damaging |
Het |
| Galnt13 |
A |
G |
2: 54,623,064 (GRCm39) |
D70G |
probably benign |
Het |
| Ggcx |
T |
G |
6: 72,405,015 (GRCm39) |
N474K |
probably damaging |
Het |
| Gm10295 |
C |
A |
7: 71,000,755 (GRCm39) |
|
probably benign |
Het |
| Gm5145 |
A |
G |
17: 20,791,342 (GRCm39) |
H240R |
probably damaging |
Het |
| Gsr |
A |
T |
8: 34,179,406 (GRCm39) |
D338V |
probably damaging |
Het |
| Hcfc2 |
C |
T |
10: 82,574,258 (GRCm39) |
P144L |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,941,062 (GRCm39) |
I473N |
probably benign |
Het |
| Ighv5-8 |
A |
T |
12: 113,616,940 (GRCm39) |
D107E |
probably benign |
Het |
| Il23r |
T |
A |
6: 67,400,384 (GRCm39) |
S649C |
probably damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,803,697 (GRCm39) |
D794G |
probably benign |
Het |
| Mapk3 |
A |
G |
7: 126,363,444 (GRCm39) |
I273V |
|
Het |
| Mycbp2 |
C |
T |
14: 103,497,642 (GRCm39) |
V977I |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,222,932 (GRCm39) |
F758L |
probably benign |
Het |
| Myom1 |
A |
T |
17: 71,343,288 (GRCm39) |
I162F |
probably benign |
Het |
| Ncor2 |
C |
T |
5: 125,095,265 (GRCm39) |
C1541Y |
|
Het |
| Nwd2 |
G |
T |
5: 63,961,747 (GRCm39) |
D444Y |
probably benign |
Het |
| Obsl1 |
A |
G |
1: 75,482,391 (GRCm39) |
Y160H |
probably benign |
Het |
| Or8u8 |
C |
A |
2: 86,011,732 (GRCm39) |
C241F |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Sall2 |
T |
A |
14: 52,550,601 (GRCm39) |
K865* |
probably null |
Het |
| Shank2 |
A |
T |
7: 143,963,271 (GRCm39) |
D293V |
probably damaging |
Het |
| Sidt1 |
T |
C |
16: 44,078,316 (GRCm39) |
Y649C |
possibly damaging |
Het |
| Slc11a2 |
T |
C |
15: 100,304,236 (GRCm39) |
E154G |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,103,807 (GRCm39) |
I226T |
probably benign |
Het |
| Snapc4 |
T |
A |
2: 26,254,865 (GRCm39) |
N1220Y |
probably damaging |
Het |
| Tars1 |
A |
G |
15: 11,387,616 (GRCm39) |
C557R |
probably damaging |
Het |
| Tead2 |
A |
G |
7: 44,881,740 (GRCm39) |
E402G |
probably damaging |
Het |
| Zfp37 |
G |
A |
4: 62,110,299 (GRCm39) |
S296F |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCAGACCAAGTCATGACTC -3'
(R):5'- AAGTGTGCCGTCTTAGAGGATC -3'
Sequencing Primer
(F):5'- TCAGACCAAGTCATGACTCTACTC -3'
(R):5'- GCCGTCTTAGAGGATCTACATCAAAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation