Incidental Mutation 'R2354:Slc5a12'
| ID |
246814 |
| 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 |
040336-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R2354 (G1)
|
| Quality Score |
112 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
110427643-110478124 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110439777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 141
(V141A)
|
| 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: V141A
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000047340
Gene: ENSMUSG00000041644
AA Change: V141A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
41 |
449 |
6.5e-43 |
PFAM |
|
transmembrane domain
|
507 |
529 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111026
AA Change: V141A
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106655
Gene: ENSMUSG00000041644
AA Change: V141A
| 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: ENSMUST00000127822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138497
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146664
|
| Meta Mutation Damage Score |
0.1978 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
97% (34/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bpifb9b |
C |
T |
2: 154,153,662 (GRCm39) |
L243F |
probably benign |
Het |
| Cd226 |
A |
T |
18: 89,265,107 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,246,080 (GRCm39) |
I792T |
possibly damaging |
Het |
| Cfap46 |
T |
C |
7: 139,240,962 (GRCm39) |
Y469C |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| D630045J12Rik |
G |
A |
6: 38,135,026 (GRCm39) |
P1385S |
possibly damaging |
Het |
| Ddb1 |
A |
T |
19: 10,584,337 (GRCm39) |
M64L |
probably benign |
Het |
| Dyrk1b |
G |
A |
7: 27,884,797 (GRCm39) |
R404Q |
possibly damaging |
Het |
| Gal3st2b |
A |
G |
1: 93,867,508 (GRCm39) |
T52A |
probably damaging |
Het |
| Galk2 |
C |
A |
2: 125,773,193 (GRCm39) |
S208R |
probably benign |
Het |
| Hap1 |
A |
T |
11: 100,245,541 (GRCm39) |
I141N |
probably damaging |
Het |
| Hif3a |
T |
C |
7: 16,775,030 (GRCm39) |
S523G |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,995,792 (GRCm39) |
V381I |
probably damaging |
Het |
| Lmbrd1 |
T |
C |
1: 24,724,622 (GRCm39) |
S69P |
probably damaging |
Het |
| Lrriq1 |
C |
T |
10: 103,025,848 (GRCm39) |
V925M |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 18,112,001 (GRCm39) |
Y459C |
probably damaging |
Het |
| Mtr |
A |
G |
13: 12,203,043 (GRCm39) |
|
probably benign |
Het |
| Nadk2 |
T |
A |
15: 9,085,862 (GRCm39) |
I167N |
probably damaging |
Het |
| Neo1 |
A |
G |
9: 58,892,917 (GRCm39) |
F242L |
probably benign |
Het |
| Pitpnm2 |
A |
T |
5: 124,260,982 (GRCm39) |
V1010E |
probably damaging |
Het |
| Prp2rt |
G |
A |
13: 97,235,309 (GRCm39) |
T146I |
probably damaging |
Het |
| Semp2l2b |
G |
T |
10: 21,943,155 (GRCm39) |
T275K |
probably benign |
Het |
| Shox2 |
A |
G |
3: 66,888,822 (GRCm39) |
I23T |
possibly damaging |
Het |
| Sstr5 |
A |
G |
17: 25,710,875 (GRCm39) |
I118T |
probably benign |
Het |
| Taar4 |
A |
G |
10: 23,836,912 (GRCm39) |
N174S |
probably damaging |
Het |
| Tpcn2 |
C |
A |
7: 144,810,955 (GRCm39) |
G581W |
probably damaging |
Het |
| Umod |
C |
T |
7: 119,065,416 (GRCm39) |
V538M |
probably damaging |
Het |
| Vmn2r44 |
T |
G |
7: 8,373,639 (GRCm39) |
S517R |
probably damaging |
Het |
| Zc3h12d |
G |
T |
10: 7,743,702 (GRCm39) |
V491L |
probably benign |
Het |
| Zfp358 |
A |
T |
8: 3,545,454 (GRCm39) |
H12L |
possibly damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,723,892 (GRCm39) |
D287G |
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 |
|
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'- TGGGACTCACTTGGGATTCA -3'
(R):5'- CTGTGTGTTTATAAGCAAGAAGATTTG -3'
Sequencing Primer
(F):5'- AGGTCCTCTGCATATATGTCATGAC -3'
(R):5'- GTATCTCCCCCACAAGAT -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation