Incidental Mutation 'IGL02211:Slc25a25'
| ID |
284695 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc25a25
|
| Ensembl Gene |
ENSMUSG00000026819 |
| Gene Name |
solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 25 |
| Synonyms |
1110030N17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02211
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
32304499-32341457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32307452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 303
(V303A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028160]
[ENSMUST00000052119]
[ENSMUST00000113307]
[ENSMUST00000113308]
[ENSMUST00000113310]
[ENSMUST00000136361]
[ENSMUST00000153886]
|
| AlphaFold |
A2ASZ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028160
AA Change: V316A
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000028160
Gene: ENSMUSG00000026819
AA Change: V316A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
30 |
N/A |
INTRINSIC |
|
EFh
|
48 |
76 |
8.73e0 |
SMART |
|
EFh
|
84 |
112 |
2.64e-1 |
SMART |
|
EFh
|
115 |
143 |
1.36e0 |
SMART |
|
Blast:EFh
|
151 |
191 |
1e-9 |
BLAST |
|
Pfam:Mito_carr
|
227 |
320 |
1.7e-26 |
PFAM |
|
Pfam:Mito_carr
|
321 |
413 |
6.4e-26 |
PFAM |
|
Pfam:Mito_carr
|
418 |
512 |
9.9e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052119
AA Change: V303A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000060581
Gene: ENSMUSG00000026819
AA Change: V303A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
EFh
|
71 |
99 |
4.53e0 |
SMART |
|
EFh
|
102 |
130 |
1.36e0 |
SMART |
|
Blast:EFh
|
138 |
178 |
2e-9 |
BLAST |
|
Pfam:Mito_carr
|
214 |
307 |
1.2e-26 |
PFAM |
|
Pfam:Mito_carr
|
308 |
400 |
2.5e-27 |
PFAM |
|
Pfam:Mito_carr
|
405 |
500 |
4.9e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113307
AA Change: V271A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000108932
Gene: ENSMUSG00000026819
AA Change: V271A
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
51 |
79 |
9.51e0 |
SMART |
|
EFh
|
82 |
110 |
1.36e0 |
SMART |
|
EFh
|
118 |
146 |
8.82e1 |
SMART |
|
Pfam:Mito_carr
|
182 |
275 |
1.1e-26 |
PFAM |
|
Pfam:Mito_carr
|
276 |
368 |
2.2e-27 |
PFAM |
|
Pfam:Mito_carr
|
373 |
468 |
4.4e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113308
AA Change: V291A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000108933
Gene: ENSMUSG00000026819
AA Change: V291A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
EFh
|
71 |
99 |
4.53e0 |
SMART |
|
EFh
|
102 |
130 |
1.36e0 |
SMART |
|
EFh
|
138 |
166 |
8.82e1 |
SMART |
|
Pfam:Mito_carr
|
202 |
295 |
1.1e-26 |
PFAM |
|
Pfam:Mito_carr
|
296 |
388 |
2.4e-27 |
PFAM |
|
Pfam:Mito_carr
|
393 |
488 |
4.7e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113310
AA Change: V304A
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000108936
Gene: ENSMUSG00000026819
AA Change: V304A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
30 |
N/A |
INTRINSIC |
|
EFh
|
48 |
76 |
8.73e0 |
SMART |
|
EFh
|
84 |
112 |
2.64e-1 |
SMART |
|
EFh
|
115 |
143 |
1.36e0 |
SMART |
|
EFh
|
151 |
179 |
8.82e1 |
SMART |
|
Pfam:Mito_carr
|
215 |
308 |
1.2e-26 |
PFAM |
|
Pfam:Mito_carr
|
309 |
401 |
2.5e-27 |
PFAM |
|
Pfam:Mito_carr
|
406 |
501 |
4.9e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127961
|
| SMART Domains |
Protein: ENSMUSP00000121932
Gene: ENSMUSG00000026819
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
36 |
64 |
8.99e0 |
SMART |
|
EFh
|
67 |
95 |
1.36e0 |
SMART |
|
Blast:EFh
|
103 |
143 |
1e-8 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128611
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136361
AA Change: V256A
PolyPhen 2
Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000115617
Gene: ENSMUSG00000026819
AA Change: V256A
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
36 |
64 |
8.99e0 |
SMART |
|
EFh
|
67 |
95 |
1.36e0 |
SMART |
|
EFh
|
103 |
131 |
8.82e1 |
SMART |
|
Pfam:Mito_carr
|
167 |
260 |
9.3e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143092
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153782
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153886
|
| SMART Domains |
Protein: ENSMUSP00000141486
Gene: ENSMUSG00000026819
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1exra_
|
1 |
38 |
1e-4 |
SMART |
|
Blast:EFh
|
15 |
43 |
2e-13 |
BLAST |
|
Pfam:Mito_carr
|
79 |
112 |
1.1e-7 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of calcium-binding mitochondrial carriers, with a characteristic mitochondrial carrier domain at the C-terminus. These proteins are found in the inner membranes of mitochondria, and function as transport proteins. They shuttle metabolites, nucleotides and cofactors through the mitochondrial membrane and thereby connect and/or regulate cytoplasm and matrix functions. This protein may function as an ATP-Mg/Pi carrier that mediates the transport of Mg-ATP in exchange for phosphate, and likely responsible for the net uptake or efflux of adenine nucleotides into or from the mitochondria. Alternatively spliced transcript variants encoding different isoforms with a common C-terminus but variable N-termini have been described for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced physical endurance and metabolic efficiency. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apoc3 |
C |
A |
9: 46,144,513 (GRCm39) |
|
probably benign |
Het |
| Atp8a2 |
C |
T |
14: 60,265,425 (GRCm39) |
G304R |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cct4 |
A |
G |
11: 22,943,327 (GRCm39) |
|
probably benign |
Het |
| Cd28 |
T |
C |
1: 60,802,153 (GRCm39) |
V24A |
probably damaging |
Het |
| Cfap70 |
T |
C |
14: 20,445,040 (GRCm39) |
N1080S |
probably damaging |
Het |
| Cpa6 |
A |
T |
1: 10,665,861 (GRCm39) |
I59K |
possibly damaging |
Het |
| Cramp1 |
A |
G |
17: 25,196,610 (GRCm39) |
S835P |
possibly damaging |
Het |
| Crim1 |
T |
C |
17: 78,662,574 (GRCm39) |
L799S |
probably damaging |
Het |
| Cxcl16 |
T |
C |
11: 70,346,858 (GRCm39) |
H95R |
possibly damaging |
Het |
| Dip2c |
T |
A |
13: 9,660,883 (GRCm39) |
C915S |
probably damaging |
Het |
| Dytn |
T |
A |
1: 63,714,089 (GRCm39) |
N137Y |
possibly damaging |
Het |
| Exoc5 |
T |
A |
14: 49,251,667 (GRCm39) |
Q628L |
probably damaging |
Het |
| Flii |
A |
G |
11: 60,609,124 (GRCm39) |
|
probably benign |
Het |
| Hnrnph3 |
A |
T |
10: 62,853,121 (GRCm39) |
|
probably benign |
Het |
| Iqsec1 |
A |
G |
6: 90,648,591 (GRCm39) |
L830P |
probably damaging |
Het |
| Kank1 |
G |
T |
19: 25,407,702 (GRCm39) |
G1232V |
probably damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,252,483 (GRCm39) |
E228G |
probably damaging |
Het |
| Limk1 |
A |
T |
5: 134,686,491 (GRCm39) |
V538E |
probably damaging |
Het |
| Mmp20 |
T |
A |
9: 7,655,071 (GRCm39) |
I393K |
probably damaging |
Het |
| Mtmr1 |
A |
G |
X: 70,455,863 (GRCm39) |
D574G |
possibly damaging |
Het |
| Nr1h2 |
A |
C |
7: 44,199,884 (GRCm39) |
M345R |
probably damaging |
Het |
| Nyap1 |
T |
C |
5: 137,737,937 (GRCm39) |
H15R |
probably damaging |
Het |
| Or2ak4 |
G |
T |
11: 58,649,196 (GRCm39) |
S235I |
possibly damaging |
Het |
| Or52h7 |
A |
T |
7: 104,214,333 (GRCm39) |
K302* |
probably null |
Het |
| Pde4b |
T |
G |
4: 102,448,019 (GRCm39) |
|
probably benign |
Het |
| Pgrmc2 |
A |
G |
3: 41,037,068 (GRCm39) |
V121A |
probably damaging |
Het |
| Ptges3 |
T |
C |
10: 127,911,927 (GRCm39) |
|
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,314,064 (GRCm39) |
S1595P |
probably benign |
Het |
| Rhbdf2 |
A |
G |
11: 116,491,261 (GRCm39) |
F625L |
possibly damaging |
Het |
| Rhpn1 |
T |
C |
15: 75,582,905 (GRCm39) |
S281P |
possibly damaging |
Het |
| Samd3 |
G |
T |
10: 26,109,455 (GRCm39) |
G128W |
probably damaging |
Het |
| Septin5 |
T |
C |
16: 18,443,629 (GRCm39) |
K51E |
probably damaging |
Het |
| Serpina7 |
G |
A |
X: 137,982,062 (GRCm39) |
T185I |
probably damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,896,297 (GRCm39) |
|
probably benign |
Het |
| Srpk3 |
A |
T |
X: 72,818,754 (GRCm39) |
H114L |
probably benign |
Het |
| Sybu |
T |
G |
15: 44,536,862 (GRCm39) |
Q360P |
probably damaging |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,630 (GRCm39) |
I274F |
probably benign |
Het |
| Wdsub1 |
G |
T |
2: 59,689,080 (GRCm39) |
R381S |
probably damaging |
Het |
| Wscd1 |
G |
A |
11: 71,679,801 (GRCm39) |
R558H |
probably damaging |
Het |
|
| Other mutations in Slc25a25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00309:Slc25a25
|
APN |
2 |
32,309,172 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01431:Slc25a25
|
APN |
2 |
32,309,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02393:Slc25a25
|
APN |
2 |
32,307,855 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0385:Slc25a25
|
UTSW |
2 |
32,307,834 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1208:Slc25a25
|
UTSW |
2 |
32,307,437 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1208:Slc25a25
|
UTSW |
2 |
32,307,437 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1611:Slc25a25
|
UTSW |
2 |
32,310,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1960:Slc25a25
|
UTSW |
2 |
32,310,663 (GRCm39) |
splice site |
probably null |
|
|
R2405:Slc25a25
|
UTSW |
2 |
32,307,731 (GRCm39) |
splice site |
probably null |
|
|
R3749:Slc25a25
|
UTSW |
2 |
32,310,392 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4446:Slc25a25
|
UTSW |
2 |
32,320,621 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4815:Slc25a25
|
UTSW |
2 |
32,310,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5245:Slc25a25
|
UTSW |
2 |
32,311,340 (GRCm39) |
nonsense |
probably null |
|
|
R6884:Slc25a25
|
UTSW |
2 |
32,310,674 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7144:Slc25a25
|
UTSW |
2 |
32,309,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7210:Slc25a25
|
UTSW |
2 |
32,310,408 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7255:Slc25a25
|
UTSW |
2 |
32,311,384 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7667:Slc25a25
|
UTSW |
2 |
32,341,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7893:Slc25a25
|
UTSW |
2 |
32,341,177 (GRCm39) |
nonsense |
probably null |
|
|
R8031:Slc25a25
|
UTSW |
2 |
32,311,517 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8550:Slc25a25
|
UTSW |
2 |
32,306,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9076:Slc25a25
|
UTSW |
2 |
32,309,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9255:Slc25a25
|
UTSW |
2 |
32,310,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Slc25a25
|
UTSW |
2 |
32,311,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation