Incidental Mutation 'R0018:Slc13a5'
| ID |
177882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc13a5
|
| Ensembl Gene |
ENSMUSG00000020805 |
| Gene Name |
solute carrier family 13 (sodium-dependent citrate transporter), member 5 |
| Synonyms |
Nact, Indy, NaC2/NaCT, mINDY |
| MMRRC Submission |
038313-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0018 (G1)
|
| Quality Score |
70 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
72132815-72158048 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72157301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 31
(I31V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146762
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021161]
[ENSMUST00000137701]
[ENSMUST00000140167]
[ENSMUST00000208056]
[ENSMUST00000208912]
|
| AlphaFold |
Q67BT3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021161
AA Change: I31V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137701
AA Change: I31V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140167
AA Change: I31V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147937
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154739
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207990
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208056
AA Change: I31V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208912
AA Change: I31V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.9%
- 20x: 96.6%
|
| Validation Efficiency |
100% (64/64) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,532,162 (GRCm39) |
|
probably null |
Het |
| Afp |
A |
C |
5: 90,654,600 (GRCm39) |
Q546P |
probably damaging |
Het |
| Api5 |
A |
T |
2: 94,251,329 (GRCm39) |
|
probably null |
Het |
| Atp2b4 |
T |
A |
1: 133,645,609 (GRCm39) |
I982F |
probably damaging |
Het |
| BC024139 |
G |
A |
15: 76,005,087 (GRCm39) |
Q592* |
probably null |
Het |
| Capn7 |
T |
A |
14: 31,076,069 (GRCm39) |
C290* |
probably null |
Het |
| Ccn1 |
A |
G |
3: 145,355,186 (GRCm39) |
L23P |
probably damaging |
Het |
| Celsr1 |
T |
A |
15: 85,915,243 (GRCm39) |
D910V |
possibly damaging |
Het |
| Chga |
T |
C |
12: 102,524,764 (GRCm39) |
S45P |
probably damaging |
Het |
| Cpne2 |
T |
A |
8: 95,282,681 (GRCm39) |
C59S |
possibly damaging |
Het |
| Cyp2b13 |
G |
A |
7: 25,785,375 (GRCm39) |
R248H |
probably benign |
Het |
| Dennd1a |
T |
A |
2: 37,748,472 (GRCm39) |
T336S |
possibly damaging |
Het |
| Drc7 |
A |
G |
8: 95,800,862 (GRCm39) |
Y628C |
probably damaging |
Het |
| Dse |
A |
G |
10: 34,029,464 (GRCm39) |
V542A |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,326,096 (GRCm39) |
S820C |
unknown |
Het |
| Efcab3 |
G |
A |
11: 104,612,378 (GRCm39) |
|
probably null |
Het |
| Eif5b |
T |
C |
1: 38,057,970 (GRCm39) |
S91P |
unknown |
Het |
| Epop |
A |
G |
11: 97,519,017 (GRCm39) |
V364A |
probably benign |
Het |
| Ext2 |
G |
A |
2: 93,626,037 (GRCm39) |
P341L |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,311,724 (GRCm39) |
T429A |
probably benign |
Het |
| Gsx2 |
A |
G |
5: 75,237,828 (GRCm39) |
K260R |
probably damaging |
Het |
| H2-M10.6 |
A |
C |
17: 37,124,941 (GRCm39) |
H286P |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,392,242 (GRCm39) |
N169D |
possibly damaging |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,528,302 (GRCm39) |
D3282G |
probably benign |
Het |
| Hnmt |
T |
A |
2: 23,893,640 (GRCm39) |
N285Y |
possibly damaging |
Het |
| Hr |
A |
G |
14: 70,795,717 (GRCm39) |
R450G |
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,419,289 (GRCm39) |
D684G |
possibly damaging |
Het |
| Kif27 |
T |
G |
13: 58,435,867 (GRCm39) |
I1309L |
probably benign |
Het |
| Mab21l4 |
T |
A |
1: 93,082,327 (GRCm39) |
D264V |
probably benign |
Het |
| Man2b1 |
T |
A |
8: 85,824,118 (GRCm39) |
V1005E |
probably damaging |
Het |
| Me2 |
A |
T |
18: 73,924,923 (GRCm39) |
F265I |
possibly damaging |
Het |
| Myo9a |
A |
T |
9: 59,779,007 (GRCm39) |
T1588S |
probably benign |
Het |
| Neu4 |
T |
A |
1: 93,953,060 (GRCm39) |
D476E |
probably benign |
Het |
| Nlrp9c |
T |
A |
7: 26,071,423 (GRCm39) |
Q895L |
possibly damaging |
Het |
| Or1e35 |
T |
C |
11: 73,797,452 (GRCm39) |
I289V |
probably damaging |
Het |
| Or1p1c |
A |
C |
11: 74,160,934 (GRCm39) |
T240P |
probably benign |
Het |
| Pdzd8 |
C |
T |
19: 59,289,105 (GRCm39) |
R765H |
probably damaging |
Het |
| Plk1 |
T |
C |
7: 121,768,208 (GRCm39) |
|
probably null |
Het |
| Ppfia2 |
A |
G |
10: 106,678,647 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,544,406 (GRCm39) |
Y1799H |
probably benign |
Het |
| Psmc1 |
T |
C |
12: 100,082,951 (GRCm39) |
|
probably benign |
Het |
| Ptchd3 |
A |
C |
11: 121,733,170 (GRCm39) |
I687L |
probably benign |
Het |
| Ptprh |
A |
G |
7: 4,604,845 (GRCm39) |
|
probably null |
Het |
| Pus3 |
A |
G |
9: 35,477,920 (GRCm39) |
D384G |
probably benign |
Het |
| Rab44 |
C |
T |
17: 29,358,354 (GRCm39) |
P181S |
probably benign |
Het |
| Rasa2 |
A |
G |
9: 96,454,016 (GRCm39) |
S307P |
probably damaging |
Het |
| Rbpms2 |
A |
G |
9: 65,558,360 (GRCm39) |
D142G |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,130,369 (GRCm39) |
D2647E |
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,610,109 (GRCm39) |
T4239I |
possibly damaging |
Het |
| Sctr |
C |
A |
1: 119,971,286 (GRCm39) |
|
probably benign |
Het |
| Serpinb6e |
A |
T |
13: 34,021,828 (GRCm39) |
Y167N |
probably damaging |
Het |
| Slc15a4 |
A |
T |
5: 127,679,074 (GRCm39) |
I422N |
probably damaging |
Het |
| Stk24 |
G |
A |
14: 121,545,419 (GRCm39) |
|
probably benign |
Het |
| Vmn1r213 |
T |
A |
13: 23,196,311 (GRCm39) |
V298D |
probably damaging |
Het |
| Xdh |
C |
T |
17: 74,232,020 (GRCm39) |
R230H |
probably benign |
Het |
| Zfp418 |
A |
T |
7: 7,185,449 (GRCm39) |
S471C |
probably benign |
Het |
|
| Other mutations in Slc13a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02347:Slc13a5
|
APN |
11 |
72,149,780 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCCAGCCTTCAGAGTCTCTAC -3'
(R):5'- AAGCTTCTAGCTGCCTCGCAATC -3'
Sequencing Primer
(F):5'- AGTCAGAGGCTAAGCCTGTC -3'
(R):5'- AGCTGCCTCGCAATCTTTTC -3'
|
| Posted On |
2014-04-30 |
Incidental Mutation