Incidental Mutation 'R8038:Slc13a5'
| ID |
618343 |
| 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 |
067475-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8038 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
72132815-72158048 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72144196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 294
(K294R)
|
| 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: K294R
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000021161
Gene: ENSMUSG00000020805
AA Change: K294R
| 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: K294R
|
| SMART Domains |
Protein: ENSMUSP00000119417
Gene: ENSMUSG00000020805
AA Change: K294R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_sulph_symp
|
7 |
115 |
1.3e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208056
AA Change: K277R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208912
AA Change: K251R
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,106,730 (GRCm39) |
M143K |
probably damaging |
Het |
| Accs |
A |
T |
2: 93,673,262 (GRCm39) |
|
probably null |
Het |
| Alkbh5 |
T |
C |
11: 60,429,811 (GRCm39) |
V188A |
probably damaging |
Het |
| Cacna1h |
C |
T |
17: 25,594,865 (GRCm39) |
V2098I |
probably damaging |
Het |
| Chuk |
A |
G |
19: 44,067,416 (GRCm39) |
Y580H |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,786,360 (GRCm39) |
N530S |
unknown |
Het |
| Cops2 |
A |
T |
2: 125,674,206 (GRCm39) |
H420Q |
probably benign |
Het |
| Ctcfl |
A |
T |
2: 172,943,698 (GRCm39) |
C551S |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,116,692 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
A |
C |
9: 20,852,860 (GRCm39) |
V82G |
probably damaging |
Het |
| Fam90a1a |
A |
T |
8: 22,453,455 (GRCm39) |
N270I |
possibly damaging |
Het |
| Foxn4 |
T |
C |
5: 114,394,658 (GRCm39) |
D423G |
probably damaging |
Het |
| Hoxa5 |
A |
G |
6: 52,181,309 (GRCm39) |
S8P |
probably damaging |
Het |
| Ighe |
A |
T |
12: 113,233,053 (GRCm39) |
V456D |
|
Het |
| Ighv1-52 |
A |
G |
12: 115,109,210 (GRCm39) |
F83S |
probably damaging |
Het |
| Itga2 |
A |
T |
13: 114,990,291 (GRCm39) |
N921K |
probably damaging |
Het |
| Kdm2b |
T |
C |
5: 123,098,958 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
T |
G |
11: 115,741,929 (GRCm39) |
M657R |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,630,890 (GRCm39) |
I1019K |
possibly damaging |
Het |
| Lrriq3 |
A |
T |
3: 154,869,638 (GRCm39) |
D321V |
probably benign |
Het |
| Lsm10 |
T |
C |
4: 125,991,890 (GRCm39) |
V82A |
probably damaging |
Het |
| Mettl3 |
A |
G |
14: 52,537,421 (GRCm39) |
S154P |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,570 (GRCm39) |
I489V |
probably benign |
Het |
| Nat8f5 |
T |
A |
6: 85,794,667 (GRCm39) |
T98S |
possibly damaging |
Het |
| Or10w1 |
G |
A |
19: 13,632,719 (GRCm39) |
V309M |
possibly damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,212 (GRCm39) |
L186Q |
probably damaging |
Het |
| Or7e166 |
G |
T |
9: 19,624,976 (GRCm39) |
M284I |
possibly damaging |
Het |
| Or8d6 |
T |
A |
9: 39,854,177 (GRCm39) |
V207D |
probably damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Pld5 |
T |
C |
1: 175,872,463 (GRCm39) |
I225V |
probably benign |
Het |
| Ppfia1 |
C |
A |
7: 144,068,653 (GRCm39) |
A414S |
possibly damaging |
Het |
| Ppib |
T |
C |
9: 65,967,615 (GRCm39) |
V23A |
probably benign |
Het |
| Rabggta |
A |
T |
14: 55,956,387 (GRCm39) |
S361T |
probably benign |
Het |
| Rap1gap2 |
T |
C |
11: 74,283,109 (GRCm39) |
S664G |
probably benign |
Het |
| Recql5 |
A |
G |
11: 115,818,178 (GRCm39) |
V285A |
possibly damaging |
Het |
| Rtn4rl1 |
G |
C |
11: 75,156,707 (GRCm39) |
E380Q |
possibly damaging |
Het |
| Scarb2 |
A |
T |
5: 92,599,307 (GRCm39) |
S338T |
probably damaging |
Het |
| Skint4 |
T |
G |
4: 111,977,003 (GRCm39) |
|
probably benign |
Het |
| Spib |
A |
G |
7: 44,179,310 (GRCm39) |
F32S |
probably benign |
Het |
| Spint2 |
A |
G |
7: 28,959,554 (GRCm39) |
|
probably benign |
Het |
| Sycp2 |
A |
T |
2: 178,045,571 (GRCm39) |
D16E |
probably damaging |
Het |
| Tab1 |
A |
G |
15: 80,044,471 (GRCm39) |
T500A |
probably benign |
Het |
| Tecpr2 |
T |
C |
12: 110,902,854 (GRCm39) |
F860L |
probably benign |
Het |
| Tg |
A |
G |
15: 66,560,724 (GRCm39) |
M1029V |
probably benign |
Het |
| Tmem126b |
C |
T |
7: 90,118,830 (GRCm39) |
V153I |
probably benign |
Het |
| Uba2 |
A |
T |
7: 33,847,022 (GRCm39) |
Y440N |
probably damaging |
Het |
| Vwa2 |
A |
G |
19: 56,886,320 (GRCm39) |
E129G |
probably benign |
Het |
| Wapl |
A |
G |
14: 34,413,639 (GRCm39) |
D167G |
probably benign |
Het |
| Zfp64 |
A |
G |
2: 168,741,932 (GRCm39) |
F332S |
probably damaging |
Het |
| Zfp786 |
C |
T |
6: 47,798,188 (GRCm39) |
R250H |
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 |
|
|
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 |
|
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'- TACACGGTGTTTCCCTCGAC -3'
(R):5'- CCAGTTTGAGATGGTGGCAC -3'
Sequencing Primer
(F):5'- TCGACCCAGGCGAATGACAG -3'
(R):5'- AGCTCTGGAAGTGCCCTAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation