Incidental Mutation 'R2408:Slc13a5'
ID |
248103 |
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 |
040374-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2408 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
72132815-72158048 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72152902 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 60
(S60P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119417
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021161]
[ENSMUST00000137701]
[ENSMUST00000140167]
[ENSMUST00000208056]
[ENSMUST00000208912]
|
AlphaFold |
Q67BT3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021161
AA Change: S60P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000021161 Gene: ENSMUSG00000020805 AA Change: S60P
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 damaging
Transcript: ENSMUST00000137701
AA Change: S60P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119417 Gene: ENSMUSG00000020805 AA Change: S60P
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: ENSMUST00000147937
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154739
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207990
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208056
AA Change: S60P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208912
|
Meta Mutation Damage Score |
0.6301 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.8%
|
Validation Efficiency |
97% (33/34) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg1 |
T |
G |
8: 95,730,121 (GRCm39) |
L103V |
probably null |
Het |
BC051076 |
C |
T |
5: 88,111,684 (GRCm39) |
|
noncoding transcript |
Het |
Ccdc191 |
A |
T |
16: 43,751,561 (GRCm39) |
Q239L |
probably benign |
Het |
Dennd4b |
G |
T |
3: 90,178,882 (GRCm39) |
G538* |
probably null |
Het |
Dipk1a |
T |
C |
5: 108,062,291 (GRCm39) |
D78G |
possibly damaging |
Het |
Dusp7 |
C |
T |
9: 106,246,361 (GRCm39) |
A122V |
probably benign |
Het |
Exd2 |
T |
G |
12: 80,531,015 (GRCm39) |
|
probably benign |
Het |
Gm10782 |
C |
A |
13: 56,510,944 (GRCm39) |
|
noncoding transcript |
Het |
Gm5117 |
T |
C |
8: 32,227,306 (GRCm39) |
|
noncoding transcript |
Het |
Hhipl1 |
T |
A |
12: 108,284,806 (GRCm39) |
D386E |
probably benign |
Het |
Hnf1a |
C |
T |
5: 115,098,070 (GRCm39) |
|
probably null |
Het |
Ifi204 |
A |
G |
1: 173,583,198 (GRCm39) |
F340S |
possibly damaging |
Het |
Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
Med26 |
T |
C |
8: 73,249,476 (GRCm39) |
D541G |
probably benign |
Het |
Mgam |
T |
A |
6: 40,663,456 (GRCm39) |
L1218Q |
probably damaging |
Het |
Msh5 |
T |
C |
17: 35,264,095 (GRCm39) |
D136G |
probably damaging |
Het |
Nbl1 |
C |
T |
4: 138,810,843 (GRCm39) |
C117Y |
probably damaging |
Het |
Niban2 |
A |
G |
2: 32,813,482 (GRCm39) |
Y565C |
probably damaging |
Het |
Noct |
T |
C |
3: 51,132,710 (GRCm39) |
|
probably null |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Prmt2 |
A |
T |
10: 76,044,301 (GRCm39) |
M417K |
probably damaging |
Het |
Rptor |
A |
G |
11: 119,748,277 (GRCm39) |
E3G |
probably damaging |
Het |
Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
Sycp1 |
T |
C |
3: 102,832,575 (GRCm39) |
Y197C |
probably damaging |
Het |
Tmem222 |
T |
C |
4: 132,998,335 (GRCm39) |
H73R |
possibly damaging |
Het |
Trmt1l |
G |
A |
1: 151,315,267 (GRCm39) |
G151D |
possibly damaging |
Het |
Ttc16 |
A |
G |
2: 32,658,020 (GRCm39) |
F409L |
probably benign |
Het |
Ubap2l |
T |
C |
3: 89,916,439 (GRCm39) |
Q925R |
probably null |
Het |
Ucn3 |
T |
G |
13: 3,991,413 (GRCm39) |
I80L |
probably benign |
Het |
Vwa3a |
T |
C |
7: 120,372,517 (GRCm39) |
S302P |
probably benign |
Het |
Zfp804b |
A |
T |
5: 7,229,410 (GRCm39) |
|
probably benign |
Het |
Zmynd19 |
A |
G |
2: 24,848,937 (GRCm39) |
E144G |
possibly 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 |
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 |
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'- TCCTTGAGGGATCCACTTCTGG -3'
(R):5'- ACAACCAGGCTCTTCTTGG -3'
Sequencing Primer
(F):5'- GGATTTCTGTAGCTATCCCTAGGC -3'
(R):5'- TGTCCTGAGCCTTGGAAAGC -3'
|
Posted On |
2014-11-11 |