Incidental Mutation 'R0018:Slc13a5'
| ID | 8360 |
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| Institutional Source |
Beutler Lab
|
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| Gene Symbol |
Slc13a5
|
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| Ensembl Gene |
ENSMUSG00000020805 |
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| Gene Name | solute carrier family 13 (sodium-dependent citrate transporter), member 5 |
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| Synonyms | Indy, Nact, mINDY, NaC2/NaCT |
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| MMRRC Submission |
038313-MU
|
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| Accession Numbers | |
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| Is this an essential gene? |
Non essential (E-score: 0.000)
|
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| Stock # | R0018 (G1)
|
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| Quality Score | |
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| Status |
Validated
|
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| Chromosome | 11 |
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| Chromosomal Location | 72241989-72267222 bp(-) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
T to C
at 72266475 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Isoleucine to Valine
at position 31
(I31V)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000146762
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021161]
[ENSMUST00000137701]
[ENSMUST00000140167]
[ENSMUST00000208056]
[ENSMUST00000208912]
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000021161
AA Change: I31V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
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| SMART Domains |
Protein: ENSMUSP00000021161
Gene: ENSMUSG00000020805
AA Change: I31V
| 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 |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000137701
AA Change: I31V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
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| SMART Domains |
Protein: ENSMUSP00000119417
Gene: ENSMUSG00000020805
AA Change: I31V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_sulph_symp
|
7 |
115 |
1.3e-24 |
PFAM |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000140167
AA Change: I31V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
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| SMART Domains |
Protein: ENSMUSP00000119822
Gene: ENSMUSG00000020805
AA Change: I31V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_sulph_symp
|
6 |
102 |
7.9e-20 |
PFAM |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147937
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154739
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207990
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000208056
AA Change: I31V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000208912
AA Change: I31V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
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| Meta Mutation Damage Score |
0.0898
|
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| Coding Region Coverage |
- 1x: 82.8%
- 3x: 76.3%
- 10x: 59.3%
- 20x: 41.5%
|
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| Validation Efficiency |
90% (80/89) |
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| 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]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2b4 |
T |
A |
1: 133,717,871 |
I982F |
probably damaging |
Het |
| BC024139 |
G |
A |
15: 76,120,887 |
Q592* |
probably null |
Het |
| Capn7 |
T |
A |
14: 31,354,112 |
C290* |
probably null |
Het |
| Celsr1 |
T |
A |
15: 86,031,042 |
D910V |
possibly damaging |
Het |
| Cpne2 |
T |
A |
8: 94,556,053 |
C59S |
possibly damaging |
Het |
| Cyp2b13 |
G |
A |
7: 26,085,950 |
R248H |
probably benign |
Het |
| Dennd1a |
T |
A |
2: 37,858,460 |
T336S |
possibly damaging |
Het |
| Drc7 |
A |
G |
8: 95,074,234 |
Y628C |
probably damaging |
Het |
| Dse |
A |
G |
10: 34,153,468 |
V542A |
probably benign |
Het |
| Gria4 |
A |
G |
9: 4,432,843 |
L780P |
possibly damaging |
Het |
| Gsx2 |
A |
G |
5: 75,077,167 |
K260R |
probably damaging |
Het |
| Kat6a |
A |
G |
8: 22,929,273 |
D684G |
possibly damaging |
Het |
| Kif27 |
T |
G |
13: 58,288,053 |
I1309L |
probably benign |
Het |
| Me2 |
A |
T |
18: 73,791,852 |
F265I |
possibly damaging |
Het |
| Myo9a |
A |
T |
9: 59,871,724 |
T1588S |
probably benign |
Het |
| Neu4 |
T |
A |
1: 94,025,338 |
D476E |
probably benign |
Het |
| Nlrp9c |
T |
A |
7: 26,371,998 |
Q895L |
possibly damaging |
Het |
| Nudt8 |
C |
T |
19: 4,001,152 |
|
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,842,786 |
|
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,726,542 |
Y1799H |
probably benign |
Het |
| Psmc1 |
T |
C |
12: 100,116,692 |
|
probably benign |
Het |
| Pus3 |
A |
G |
9: 35,566,624 |
D384G |
probably benign |
Het |
| Rasa2 |
A |
G |
9: 96,571,963 |
S307P |
probably damaging |
Het |
| Rbpms2 |
A |
G |
9: 65,651,078 |
D142G |
probably damaging |
Het |
| Slc15a4 |
A |
T |
5: 127,602,010 |
I422N |
probably damaging |
Het |
| Slc26a6 |
G |
T |
9: 108,858,922 |
|
probably null |
Het |
| Ufm1 |
A |
T |
3: 53,859,196 |
I79N |
probably benign |
Het |
| Xdh |
C |
T |
17: 73,925,025 |
R230H |
probably benign |
Het |
| Zfp418 |
A |
T |
7: 7,182,450 |
S471C |
probably benign |
Het |
|
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| Other mutations in Slc13a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02347:Slc13a5
|
APN |
11 |
72258954 |
splice site |
probably null |
|
|
IGL03392:Slc13a5
|
APN |
11 |
72245178 |
missense |
probably damaging |
1.00 |
|
Punk
|
UTSW |
11 |
72262076 |
missense |
probably damaging |
1.00 |
|
punk2
|
UTSW |
11 |
72253391 |
missense |
possibly damaging |
0.65 |
|
R0018:Slc13a5
|
UTSW |
11 |
72266475 |
missense |
probably benign |
|
|
R0042:Slc13a5
|
UTSW |
11 |
72259114 |
missense |
probably benign |
0.31 |
|
R0194:Slc13a5
|
UTSW |
11 |
72245233 |
missense |
probably benign |
0.22 |
|
R0194:Slc13a5
|
UTSW |
11 |
72262130 |
missense |
possibly damaging |
0.95 |
|
R0234:Slc13a5
|
UTSW |
11 |
72250800 |
missense |
probably damaging |
0.98 |
|
R1499:Slc13a5
|
UTSW |
11 |
72250731 |
missense |
probably damaging |
0.97 |
|
R1655:Slc13a5
|
UTSW |
11 |
72257378 |
missense |
probably benign |
0.00 |
|
R1728:Slc13a5
|
UTSW |
11 |
72266459 |
splice site |
probably null |
|
|
R1818:Slc13a5
|
UTSW |
11 |
72253343 |
missense |
probably benign |
0.02 |
|
R2304:Slc13a5
|
UTSW |
11 |
72259039 |
missense |
probably damaging |
1.00 |
|
R2352:Slc13a5
|
UTSW |
11 |
72252321 |
missense |
probably benign |
0.06 |
|
R2408:Slc13a5
|
UTSW |
11 |
72262076 |
missense |
probably damaging |
1.00 |
|
R2919:Slc13a5
|
UTSW |
11 |
72247791 |
missense |
possibly damaging |
0.92 |
|
R2920:Slc13a5
|
UTSW |
11 |
72247791 |
missense |
possibly damaging |
0.92 |
|
R3103:Slc13a5
|
UTSW |
11 |
72257388 |
missense |
probably damaging |
1.00 |
|
R4772:Slc13a5
|
UTSW |
11 |
72250846 |
critical splice acceptor site |
probably null |
|
|
R4906:Slc13a5
|
UTSW |
11 |
72257418 |
missense |
probably damaging |
0.99 |
|
R5385:Slc13a5
|
UTSW |
11 |
72259077 |
missense |
probably benign |
0.01 |
|
R5562:Slc13a5
|
UTSW |
11 |
72262039 |
missense |
probably damaging |
0.99 |
|
R5878:Slc13a5
|
UTSW |
11 |
72253391 |
missense |
possibly damaging |
0.65 |
|
R6173:Slc13a5
|
UTSW |
11 |
72253197 |
missense |
probably benign |
0.05 |
|
R6665:Slc13a5
|
UTSW |
11 |
72260360 |
missense |
probably damaging |
0.99 |
|
R7317:Slc13a5
|
UTSW |
11 |
72245127 |
missense |
probably damaging |
1.00 |
|
R7338:Slc13a5
|
UTSW |
11 |
72266484 |
missense |
probably benign |
|
|
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| Posted On | 2012-11-27 |
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