Incidental Mutation 'R6173:Slc13a5'
| ID |
489150 |
| 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 |
044316-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6173 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
72132815-72158048 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 72144023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 352
(E352K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021161
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021161]
[ENSMUST00000137701]
[ENSMUST00000208056]
[ENSMUST00000208912]
|
| AlphaFold |
Q67BT3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021161
AA Change: E352K
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000021161
Gene: ENSMUSG00000020805
AA Change: E352K
| 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: E352K
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000119417
Gene: ENSMUSG00000020805
AA Change: E352K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_sulph_symp
|
7 |
115 |
1.3e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208056
AA Change: E335K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208912
AA Change: E309K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.1036 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
96% (52/54) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
T |
C |
3: 126,846,395 (GRCm39) |
D219G |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,906,965 (GRCm39) |
I18N |
probably damaging |
Het |
| Baz1b |
T |
C |
5: 135,271,361 (GRCm39) |
S1315P |
probably benign |
Het |
| Bbs7 |
A |
T |
3: 36,646,523 (GRCm39) |
C432* |
probably null |
Het |
| Bend3 |
A |
G |
10: 43,385,864 (GRCm39) |
T86A |
probably benign |
Het |
| Cadm2 |
C |
T |
16: 66,679,729 (GRCm39) |
V35I |
probably benign |
Het |
| Ch25h |
A |
G |
19: 34,451,896 (GRCm39) |
S211P |
probably damaging |
Het |
| Chd5 |
A |
T |
4: 152,463,848 (GRCm39) |
H1476L |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,036,338 (GRCm39) |
|
probably null |
Het |
| Clpx |
C |
A |
9: 65,209,161 (GRCm39) |
S92* |
probably null |
Het |
| Dazl |
A |
T |
17: 50,594,599 (GRCm39) |
M152K |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,930,772 (GRCm39) |
S3748P |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,212,388 (GRCm39) |
K1251R |
probably null |
Het |
| Esr1 |
T |
C |
10: 4,696,760 (GRCm39) |
V203A |
probably damaging |
Het |
| F830045P16Rik |
A |
G |
2: 129,305,588 (GRCm39) |
I262T |
probably damaging |
Het |
| Foxp1 |
G |
A |
6: 98,992,471 (GRCm39) |
Q41* |
probably null |
Het |
| Foxp1 |
C |
A |
6: 98,992,475 (GRCm39) |
|
probably null |
Het |
| Fshb |
T |
C |
2: 106,887,638 (GRCm39) |
E127G |
possibly damaging |
Het |
| Galk2 |
A |
G |
2: 125,701,137 (GRCm39) |
|
probably benign |
Het |
| Gid4 |
A |
G |
11: 60,323,241 (GRCm39) |
D111G |
probably damaging |
Het |
| Gm14412 |
G |
A |
2: 177,006,330 (GRCm39) |
P522S |
probably damaging |
Het |
| Iqank1 |
A |
G |
15: 75,917,237 (GRCm39) |
E290G |
probably damaging |
Het |
| Mfap4 |
A |
G |
11: 61,376,245 (GRCm39) |
|
probably null |
Het |
| Mfsd2a |
A |
G |
4: 122,845,039 (GRCm39) |
V224A |
probably benign |
Het |
| Mocos |
A |
T |
18: 24,809,639 (GRCm39) |
Y414F |
probably benign |
Het |
| Mrto4 |
T |
C |
4: 139,077,755 (GRCm39) |
I27V |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,554,958 (GRCm39) |
|
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,840,752 (GRCm39) |
I534N |
probably damaging |
Het |
| Mup20 |
A |
T |
4: 61,972,267 (GRCm39) |
L7Q |
unknown |
Het |
| Nlrp2 |
T |
C |
7: 5,340,808 (GRCm39) |
E2G |
probably damaging |
Het |
| Or11g1 |
A |
G |
14: 50,651,654 (GRCm39) |
I218V |
possibly damaging |
Het |
| Or12k7 |
A |
G |
2: 36,959,091 (GRCm39) |
Y258C |
possibly damaging |
Het |
| Or2y16 |
T |
C |
11: 49,335,299 (GRCm39) |
V207A |
probably benign |
Het |
| Or6z5 |
C |
T |
7: 6,477,835 (GRCm39) |
A242V |
probably damaging |
Het |
| Parn |
T |
C |
16: 13,469,675 (GRCm39) |
T209A |
possibly damaging |
Het |
| Psip1 |
T |
A |
4: 83,391,286 (GRCm39) |
|
probably null |
Het |
| Ptprc |
A |
C |
1: 137,995,628 (GRCm39) |
C1157G |
probably damaging |
Het |
| Rad17 |
A |
C |
13: 100,759,389 (GRCm39) |
V546G |
probably benign |
Het |
| Rc3h2 |
GCC |
GCCC |
2: 37,304,745 (GRCm39) |
|
probably null |
Het |
| Safb |
A |
G |
17: 56,904,798 (GRCm39) |
E124G |
probably damaging |
Het |
| Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,392,907 (GRCm39) |
T1242A |
unknown |
Het |
| Sohlh2 |
G |
T |
3: 55,104,419 (GRCm39) |
V263F |
probably benign |
Het |
| Strn |
A |
G |
17: 79,008,298 (GRCm39) |
Y107H |
probably damaging |
Het |
| Tbx15 |
G |
T |
3: 99,161,203 (GRCm39) |
E3* |
probably null |
Het |
| Tespa1 |
A |
G |
10: 130,183,172 (GRCm39) |
D39G |
probably benign |
Het |
| Trp73 |
A |
T |
4: 154,188,798 (GRCm39) |
D54E |
probably damaging |
Het |
| Ttll5 |
A |
T |
12: 85,980,151 (GRCm39) |
S912C |
probably damaging |
Het |
| Utp14b |
A |
T |
1: 78,643,554 (GRCm39) |
D484V |
probably benign |
Het |
| Utp14b |
A |
C |
1: 78,643,557 (GRCm39) |
N485T |
probably benign |
Het |
| Vmn2r29 |
T |
C |
7: 7,234,369 (GRCm39) |
E839G |
probably benign |
Het |
| Vmn2r6 |
G |
C |
3: 64,467,176 (GRCm39) |
P108A |
probably damaging |
Het |
| Vps8 |
T |
G |
16: 21,314,682 (GRCm39) |
|
probably null |
Het |
| Zfp36l1 |
A |
T |
12: 80,156,320 (GRCm39) |
|
probably null |
Het |
| Zfp998 |
T |
A |
13: 66,579,608 (GRCm39) |
T292S |
probably benign |
Het |
| Zp3r |
A |
T |
1: 130,519,305 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- GAAACAAATGCACCCGTAGTTTC -3'
(R):5'- AAACTTGCATCTGCTGTGGG -3'
Sequencing Primer
(F):5'- ATGCACCCGTAGTTTCATTCTGAAG -3'
(R):5'- CATCTGCTGTGGGGAGAAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation