Incidental Mutation 'R3103:Slc13a5'
| ID |
262915 |
| 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 |
040577-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3103 (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 T
at 72148214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 231
(W231R)
|
| 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: W274R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021161
Gene: ENSMUSG00000020805
AA Change: W274R
| 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: W274R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119417
Gene: ENSMUSG00000020805
AA Change: W274R
| 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: W257R
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208912
AA Change: W231R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp7 |
A |
G |
7: 28,310,409 (GRCm39) |
|
probably null |
Het |
| Adap2 |
G |
T |
11: 80,047,859 (GRCm39) |
C105F |
probably damaging |
Het |
| Bace2 |
T |
C |
16: 97,223,201 (GRCm39) |
|
probably null |
Het |
| Bpifc |
A |
G |
10: 85,829,286 (GRCm39) |
S94P |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,044,459 (GRCm39) |
D347G |
possibly damaging |
Het |
| Cad |
T |
C |
5: 31,219,018 (GRCm39) |
V613A |
possibly damaging |
Het |
| Ccdc47 |
T |
C |
11: 106,093,667 (GRCm39) |
H6R |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,714,338 (GRCm39) |
T1956A |
probably benign |
Het |
| Cep128 |
T |
A |
12: 90,986,118 (GRCm39) |
D1006V |
probably damaging |
Het |
| Cog3 |
T |
C |
14: 75,984,641 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
C |
T |
8: 15,967,405 (GRCm39) |
V3153M |
probably damaging |
Het |
| Ctnna2 |
T |
C |
6: 77,630,127 (GRCm39) |
E122G |
possibly damaging |
Het |
| Cts8 |
T |
A |
13: 61,398,772 (GRCm39) |
I245F |
probably damaging |
Het |
| Ddx27 |
T |
A |
2: 166,868,166 (GRCm39) |
V333E |
probably damaging |
Het |
| Dmpk |
A |
G |
7: 18,821,579 (GRCm39) |
Y279C |
probably damaging |
Het |
| Dpagt1 |
A |
G |
9: 44,239,292 (GRCm39) |
I111V |
probably benign |
Het |
| Dvl2 |
C |
A |
11: 69,899,695 (GRCm39) |
P546T |
possibly damaging |
Het |
| Fat4 |
G |
T |
3: 38,946,089 (GRCm39) |
A1661S |
probably benign |
Het |
| Gcm1 |
A |
G |
9: 77,971,734 (GRCm39) |
N225S |
probably damaging |
Het |
| Gcnt2 |
A |
T |
13: 41,072,082 (GRCm39) |
M242L |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,715,211 (GRCm39) |
R226G |
probably damaging |
Het |
| Gpr63 |
G |
A |
4: 25,007,353 (GRCm39) |
V26I |
probably benign |
Het |
| Grik2 |
A |
G |
10: 49,116,868 (GRCm39) |
L631P |
probably damaging |
Het |
| Hapln3 |
T |
C |
7: 78,771,484 (GRCm39) |
D135G |
probably benign |
Het |
| Il31ra |
C |
A |
13: 112,666,885 (GRCm39) |
V398F |
probably damaging |
Het |
| Ipp |
G |
T |
4: 116,381,446 (GRCm39) |
R315L |
possibly damaging |
Het |
| Kcmf1 |
A |
G |
6: 72,838,830 (GRCm39) |
L32P |
probably damaging |
Het |
| Klf17 |
T |
A |
4: 117,617,805 (GRCm39) |
Q184L |
possibly damaging |
Het |
| Lrp2 |
C |
T |
2: 69,262,328 (GRCm39) |
V4442I |
probably benign |
Het |
| Lrrfip2 |
A |
T |
9: 111,051,278 (GRCm39) |
E293D |
probably damaging |
Het |
| Oit3 |
A |
G |
10: 59,274,713 (GRCm39) |
I29T |
probably damaging |
Het |
| Or1a1 |
G |
A |
11: 74,086,901 (GRCm39) |
D191N |
probably benign |
Het |
| Or1j21 |
T |
C |
2: 36,683,574 (GRCm39) |
C109R |
possibly damaging |
Het |
| Or51h1 |
T |
C |
7: 102,308,688 (GRCm39) |
V220A |
probably benign |
Het |
| Plb1 |
T |
A |
5: 32,485,373 (GRCm39) |
M842K |
possibly damaging |
Het |
| Ppt1 |
T |
C |
4: 122,730,100 (GRCm39) |
C18R |
probably benign |
Het |
| Pstpip2 |
T |
C |
18: 77,959,477 (GRCm39) |
Y191H |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,774,373 (GRCm39) |
V2361I |
probably damaging |
Het |
| Serpinb11 |
A |
G |
1: 107,305,338 (GRCm39) |
N238S |
probably benign |
Het |
| Skor2 |
A |
T |
18: 76,946,973 (GRCm39) |
K232* |
probably null |
Het |
| Svs5 |
A |
T |
2: 164,175,313 (GRCm39) |
E55V |
probably benign |
Het |
| Tfcp2 |
A |
T |
15: 100,423,481 (GRCm39) |
W142R |
probably damaging |
Het |
| Trpc2 |
A |
T |
7: 101,744,441 (GRCm39) |
I738F |
possibly damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,916,067 (GRCm39) |
S227T |
possibly damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,464,386 (GRCm39) |
T1540A |
probably damaging |
Het |
| Zfp616 |
A |
G |
11: 73,962,561 (GRCm39) |
T74A |
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 |
|
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'- TAAGCCTCCAGCCATTGTG -3'
(R):5'- TTATGTGGCCTGCAGTTAGC -3'
Sequencing Primer
(F):5'- TCCAGCCATTGTGAGACTGAG -3'
(R):5'- GTTAGCCCCATCTCTCAAGAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation