Incidental Mutation 'IGL02347:Slc13a5'
| ID |
289348 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc13a5
|
| Ensembl Gene |
ENSMUSG00000020805 |
| Gene Name |
solute carrier family 13 (sodium-dependent citrate transporter), member 5 |
| Synonyms |
Nact, Indy, NaC2/NaCT, mINDY |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02347
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
72132815-72158048 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 72149780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146762
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021161]
[ENSMUST00000137701]
[ENSMUST00000140167]
[ENSMUST00000208056]
[ENSMUST00000208912]
|
| AlphaFold |
Q67BT3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021161
|
| SMART Domains |
Protein: ENSMUSP00000021161
Gene: ENSMUSG00000020805
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_sulph_symp
|
8 |
558 |
1.3e-121 |
PFAM |
|
Pfam:CitMHS
|
13 |
172 |
1.6e-14 |
PFAM |
|
Pfam:CitMHS
|
202 |
498 |
6.4e-24 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000137701
|
| SMART Domains |
Protein: ENSMUSP00000119417
Gene: ENSMUSG00000020805
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_sulph_symp
|
7 |
115 |
1.3e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140167
|
| SMART Domains |
Protein: ENSMUSP00000119822
Gene: ENSMUSG00000020805
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_sulph_symp
|
6 |
102 |
7.9e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207990
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208056
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208912
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for a null allele display resistance to diet and age induced obesity, increased energy expenditure, improved glucose tolerance, and increased hepatic lipid oxidation. Mice homozygous for an ENU-induced allele exhibit reduced body weight. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
A |
17: 48,452,835 (GRCm39) |
K35* |
probably null |
Het |
| Adad2 |
G |
T |
8: 120,343,408 (GRCm39) |
G546V |
probably damaging |
Het |
| Bccip |
A |
G |
7: 133,311,105 (GRCm39) |
K7E |
probably benign |
Het |
| C8b |
G |
A |
4: 104,644,151 (GRCm39) |
E273K |
probably benign |
Het |
| Car12 |
T |
A |
9: 66,671,629 (GRCm39) |
V352D |
possibly damaging |
Het |
| Cyp2d11 |
G |
A |
15: 82,274,681 (GRCm39) |
R299C |
probably benign |
Het |
| Dnah10 |
A |
C |
5: 124,910,487 (GRCm39) |
|
probably null |
Het |
| Eddm13 |
A |
G |
7: 6,272,883 (GRCm39) |
I79M |
possibly damaging |
Het |
| Egf |
A |
T |
3: 129,472,026 (GRCm39) |
N1199K |
probably benign |
Het |
| Ehbp1l1 |
A |
G |
19: 5,769,600 (GRCm39) |
W568R |
possibly damaging |
Het |
| Eif1ad14 |
T |
C |
12: 87,886,359 (GRCm39) |
D90G |
probably damaging |
Het |
| Emc3 |
A |
G |
6: 113,497,533 (GRCm39) |
M106T |
possibly damaging |
Het |
| Fam13b |
T |
C |
18: 34,587,757 (GRCm39) |
K514E |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Frg2f1 |
A |
C |
4: 119,387,929 (GRCm39) |
L190R |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,270,023 (GRCm39) |
|
probably null |
Het |
| Glis3 |
A |
G |
19: 28,509,283 (GRCm39) |
F234L |
probably benign |
Het |
| Grap2 |
T |
C |
15: 80,530,557 (GRCm39) |
|
probably benign |
Het |
| H2-M10.2 |
T |
A |
17: 36,596,505 (GRCm39) |
E113D |
probably benign |
Het |
| Itgb6 |
T |
C |
2: 60,441,756 (GRCm39) |
T685A |
probably benign |
Het |
| Mrpl19 |
A |
T |
6: 81,938,992 (GRCm39) |
M270K |
probably damaging |
Het |
| Msantd4 |
G |
T |
9: 4,384,734 (GRCm39) |
|
probably benign |
Het |
| Msr1 |
G |
T |
8: 40,085,778 (GRCm39) |
T34K |
probably damaging |
Het |
| Npc1 |
C |
T |
18: 12,332,691 (GRCm39) |
V780M |
probably benign |
Het |
| Nsun6 |
A |
G |
2: 15,034,831 (GRCm39) |
|
probably benign |
Het |
| Nt5c2 |
A |
G |
19: 46,912,695 (GRCm39) |
|
probably benign |
Het |
| Nucb2 |
A |
C |
7: 116,135,113 (GRCm39) |
Q340P |
probably benign |
Het |
| Nup50l |
A |
T |
6: 96,142,511 (GRCm39) |
Y178N |
probably damaging |
Het |
| Or2l13b |
A |
G |
16: 19,349,529 (GRCm39) |
L47P |
probably damaging |
Het |
| Or3a1b |
C |
T |
11: 74,012,397 (GRCm39) |
T94I |
probably benign |
Het |
| Osgin1 |
A |
G |
8: 120,172,277 (GRCm39) |
E357G |
probably benign |
Het |
| Pabpc6 |
C |
T |
17: 9,887,993 (GRCm39) |
R186K |
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,653,350 (GRCm39) |
K83R |
probably damaging |
Het |
| Ppid |
A |
G |
3: 79,502,526 (GRCm39) |
I82V |
probably benign |
Het |
| Pygl |
C |
T |
12: 70,248,666 (GRCm39) |
G318S |
probably benign |
Het |
| Rcn1 |
A |
T |
2: 105,229,471 (GRCm39) |
V27E |
probably benign |
Het |
| Rnaseh1 |
A |
T |
12: 28,707,629 (GRCm39) |
|
probably benign |
Het |
| Rnf148 |
A |
G |
6: 23,654,729 (GRCm39) |
V89A |
probably benign |
Het |
| Siglecf |
G |
A |
7: 43,001,145 (GRCm39) |
V38I |
possibly damaging |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Sos2 |
A |
T |
12: 69,643,520 (GRCm39) |
D953E |
probably benign |
Het |
| Strbp |
A |
C |
2: 37,535,660 (GRCm39) |
V16G |
probably benign |
Het |
| Sycp1 |
A |
T |
3: 102,800,863 (GRCm39) |
M567K |
probably benign |
Het |
| Tedc2 |
A |
C |
17: 24,439,584 (GRCm39) |
V19G |
probably damaging |
Het |
| Tjp1 |
A |
G |
7: 64,950,812 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,539,564 (GRCm39) |
V26147E |
probably damaging |
Het |
| Vmn1r86 |
A |
G |
7: 12,836,574 (GRCm39) |
S51P |
probably damaging |
Het |
| Vmn2r83 |
A |
G |
10: 79,316,067 (GRCm39) |
T488A |
possibly damaging |
Het |
| Zfp541 |
A |
G |
7: 15,817,390 (GRCm39) |
Y945C |
probably damaging |
Het |
|
| Other mutations in Slc13a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03392:Slc13a5
|
APN |
11 |
72,136,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Punk
|
UTSW |
11 |
72,152,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
punk2
|
UTSW |
11 |
72,144,217 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0018:Slc13a5
|
UTSW |
11 |
72,157,301 (GRCm39) |
missense |
probably benign |
|
|
R0018:Slc13a5
|
UTSW |
11 |
72,157,301 (GRCm39) |
missense |
probably benign |
|
|
R0042:Slc13a5
|
UTSW |
11 |
72,149,940 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0194:Slc13a5
|
UTSW |
11 |
72,152,956 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0194:Slc13a5
|
UTSW |
11 |
72,136,059 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0234:Slc13a5
|
UTSW |
11 |
72,141,626 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1499:Slc13a5
|
UTSW |
11 |
72,141,557 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1655:Slc13a5
|
UTSW |
11 |
72,148,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1728:Slc13a5
|
UTSW |
11 |
72,157,285 (GRCm39) |
splice site |
probably null |
|
|
R1818:Slc13a5
|
UTSW |
11 |
72,144,169 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2304:Slc13a5
|
UTSW |
11 |
72,149,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2352:Slc13a5
|
UTSW |
11 |
72,143,147 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2408:Slc13a5
|
UTSW |
11 |
72,152,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2919:Slc13a5
|
UTSW |
11 |
72,138,617 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2920:Slc13a5
|
UTSW |
11 |
72,138,617 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3103:Slc13a5
|
UTSW |
11 |
72,148,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4772:Slc13a5
|
UTSW |
11 |
72,141,672 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4906:Slc13a5
|
UTSW |
11 |
72,148,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5385:Slc13a5
|
UTSW |
11 |
72,149,903 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5562:Slc13a5
|
UTSW |
11 |
72,152,865 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5878:Slc13a5
|
UTSW |
11 |
72,144,217 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6173:Slc13a5
|
UTSW |
11 |
72,144,023 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6665:Slc13a5
|
UTSW |
11 |
72,151,186 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7317:Slc13a5
|
UTSW |
11 |
72,135,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7338:Slc13a5
|
UTSW |
11 |
72,157,310 (GRCm39) |
missense |
probably benign |
|
|
R7908:Slc13a5
|
UTSW |
11 |
72,149,890 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8038:Slc13a5
|
UTSW |
11 |
72,144,196 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8420:Slc13a5
|
UTSW |
11 |
72,148,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8679:Slc13a5
|
UTSW |
11 |
72,149,919 (GRCm39) |
missense |
probably benign |
|
|
R9017:Slc13a5
|
UTSW |
11 |
72,138,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9629:Slc13a5
|
UTSW |
11 |
72,138,578 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation