Incidental Mutation 'R2304:Slc13a5'
| ID |
244531 |
| 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 |
040303-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2304 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
72132815-72158048 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72149865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 172
(V172A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146762
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021161]
[ENSMUST00000137701]
[ENSMUST00000140167]
[ENSMUST00000208056]
[ENSMUST00000208912]
|
| AlphaFold |
Q67BT3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021161
AA Change: V215A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021161
Gene: ENSMUSG00000020805
AA Change: V215A
| 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 |
unknown
Transcript: ENSMUST00000137701
AA Change: V215A
|
| SMART Domains |
Protein: ENSMUSP00000119417
Gene: ENSMUSG00000020805
AA Change: V215A
| 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 damaging
Transcript: ENSMUST00000208056
AA Change: V198A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208912
AA Change: V172A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
A |
5: 8,142,366 (GRCm39) |
R806S |
probably damaging |
Het |
| Ccdc187 |
T |
C |
2: 26,171,029 (GRCm39) |
K483R |
possibly damaging |
Het |
| Dcdc5 |
T |
A |
2: 106,166,488 (GRCm39) |
|
noncoding transcript |
Het |
| Dvl1 |
C |
T |
4: 155,940,041 (GRCm39) |
S391F |
probably damaging |
Het |
| Erg28 |
A |
G |
12: 85,862,937 (GRCm39) |
L125P |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm5449 |
G |
T |
13: 53,679,899 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2ip |
T |
C |
5: 143,373,595 (GRCm39) |
Y796H |
probably damaging |
Het |
| Mcrip1 |
A |
T |
11: 120,435,519 (GRCm39) |
F39I |
probably damaging |
Het |
| Or5w12 |
T |
A |
2: 87,502,238 (GRCm39) |
I158L |
probably benign |
Het |
| Prss53 |
T |
C |
7: 127,487,479 (GRCm39) |
N291D |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,499,879 (GRCm39) |
V1255D |
probably damaging |
Het |
| Rbl1 |
T |
C |
2: 156,989,551 (GRCm39) |
T1023A |
probably benign |
Het |
| Rnaseh2b |
T |
C |
14: 62,598,838 (GRCm39) |
S188P |
probably damaging |
Het |
| Sh2d6 |
T |
C |
6: 72,497,542 (GRCm39) |
E20G |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Sp8 |
G |
T |
12: 118,812,304 (GRCm39) |
S53I |
possibly damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Togaram1 |
G |
T |
12: 65,023,630 (GRCm39) |
|
probably null |
Het |
| Trip11 |
A |
T |
12: 101,865,236 (GRCm39) |
F146I |
possibly damaging |
Het |
| Vmn1r184 |
T |
C |
7: 25,966,550 (GRCm39) |
S99P |
probably damaging |
Het |
| Xpot |
T |
C |
10: 121,447,488 (GRCm39) |
I325V |
probably benign |
Het |
| Zfp786 |
A |
G |
6: 47,797,633 (GRCm39) |
L435P |
probably damaging |
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 |
|
|
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 |
|
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'- ATCCTAGACTGATGGCTCCAGG -3'
(R):5'- GAAGAACACATGTGCACCTGG -3'
Sequencing Primer
(F):5'- TCCAGGCCAAGACAGGG -3'
(R):5'- GGTACGCCCGATCTCACATTAGTAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation