Incidental Mutation 'R6884:Slc25a25'
| ID |
536825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a25
|
| Ensembl Gene |
ENSMUSG00000026819 |
| Gene Name |
solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 25 |
| Synonyms |
1110030N17Rik |
| MMRRC Submission |
044979-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6884 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
32304499-32341457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 32310674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 168
(V168G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028160
(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: V168G
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000028160
Gene: ENSMUSG00000026819
AA Change: V168G
| 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 benign
Transcript: ENSMUST00000052119
AA Change: V155G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000060581
Gene: ENSMUSG00000026819
AA Change: V155G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000108932
Gene: ENSMUSG00000026819
| 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
|
| SMART Domains |
Protein: ENSMUSP00000108933
Gene: ENSMUSG00000026819
| 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
|
| SMART Domains |
Protein: ENSMUSP00000108936
Gene: ENSMUSG00000026819
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000121932
Gene: ENSMUSG00000026819
AA Change: V119G
| 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 |
probably benign
Transcript: ENSMUST00000136361
|
| SMART Domains |
Protein: ENSMUSP00000115617
Gene: ENSMUSG00000026819
| 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 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
A |
G |
1: 74,323,407 (GRCm39) |
|
probably benign |
Het |
| Abca5 |
C |
T |
11: 110,220,043 (GRCm39) |
V8M |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,741,863 (GRCm39) |
D736E |
possibly damaging |
Het |
| Brpf3 |
A |
G |
17: 29,050,324 (GRCm39) |
D1072G |
probably benign |
Het |
| Cacna1i |
C |
T |
15: 80,259,010 (GRCm39) |
R1240C |
probably damaging |
Het |
| Ccdc40 |
A |
T |
11: 119,133,565 (GRCm39) |
E568D |
possibly damaging |
Het |
| Col12a1 |
C |
T |
9: 79,547,091 (GRCm39) |
G2247E |
possibly damaging |
Het |
| Dapk3 |
T |
A |
10: 81,027,588 (GRCm39) |
|
probably null |
Het |
| Dcaf13 |
T |
C |
15: 38,986,635 (GRCm39) |
W136R |
probably damaging |
Het |
| Dip2a |
C |
A |
10: 76,108,366 (GRCm39) |
|
probably null |
Het |
| Eif3c |
T |
C |
7: 126,156,051 (GRCm39) |
D473G |
probably benign |
Het |
| Erich2 |
G |
A |
2: 70,339,505 (GRCm39) |
R20H |
possibly damaging |
Het |
| Gcnt7 |
T |
C |
2: 172,296,125 (GRCm39) |
N233S |
probably damaging |
Het |
| Gdpd4 |
G |
T |
7: 97,621,382 (GRCm39) |
L208F |
probably damaging |
Het |
| Gm10269 |
T |
A |
18: 20,815,932 (GRCm39) |
Q30L |
possibly damaging |
Het |
| Gm7298 |
A |
T |
6: 121,737,480 (GRCm39) |
I295F |
possibly damaging |
Het |
| Htr7 |
A |
G |
19: 35,941,779 (GRCm39) |
|
probably null |
Het |
| Ing1 |
A |
G |
8: 11,611,916 (GRCm39) |
Y118C |
probably damaging |
Het |
| Krtap16-1 |
C |
T |
11: 99,877,284 (GRCm39) |
W40* |
probably null |
Het |
| Krtap26-1 |
A |
T |
16: 88,444,467 (GRCm39) |
D51E |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,394,986 (GRCm39) |
Q2513L |
probably benign |
Het |
| Morf4l1 |
A |
T |
9: 89,976,532 (GRCm39) |
N265K |
probably damaging |
Het |
| Mpp2 |
T |
C |
11: 101,952,904 (GRCm39) |
D299G |
probably benign |
Het |
| Mtcl1 |
C |
T |
17: 66,745,197 (GRCm39) |
G55R |
probably damaging |
Het |
| Myb |
T |
A |
10: 21,028,431 (GRCm39) |
K144I |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,709,875 (GRCm39) |
I587T |
possibly damaging |
Het |
| Nr2c2 |
A |
G |
6: 92,135,374 (GRCm39) |
S288G |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,969,128 (GRCm39) |
Y2700H |
probably damaging |
Het |
| Or2z9 |
T |
C |
8: 72,854,345 (GRCm39) |
V247A |
probably benign |
Het |
| Or6c3 |
T |
A |
10: 129,309,023 (GRCm39) |
F154Y |
probably damaging |
Het |
| Pde6b |
A |
G |
5: 108,536,574 (GRCm39) |
D90G |
probably damaging |
Het |
| Pigo |
A |
G |
4: 43,022,627 (GRCm39) |
F315L |
possibly damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Ret |
T |
C |
6: 118,132,362 (GRCm39) |
D1026G |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,303,096 (GRCm39) |
Q143L |
probably benign |
Het |
| Rubcnl |
A |
G |
14: 75,272,910 (GRCm39) |
E210G |
probably benign |
Het |
| Serpina1b |
T |
A |
12: 103,698,712 (GRCm39) |
T46S |
probably benign |
Het |
| Serpinb9e |
A |
T |
13: 33,435,609 (GRCm39) |
H14L |
probably benign |
Het |
| Shoc1 |
A |
G |
4: 59,059,652 (GRCm39) |
S1003P |
possibly damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,238,726 (GRCm39) |
T261A |
possibly damaging |
Het |
| Spocd1 |
T |
C |
4: 129,849,197 (GRCm39) |
|
probably benign |
Het |
| Tmem222 |
A |
T |
4: 132,995,514 (GRCm39) |
Y178N |
probably damaging |
Het |
| Top1mt |
C |
T |
15: 75,535,893 (GRCm39) |
E470K |
probably benign |
Het |
| Traj42 |
T |
C |
14: 54,413,290 (GRCm39) |
|
probably benign |
Het |
| Tshr |
T |
C |
12: 91,504,876 (GRCm39) |
Y13H |
probably damaging |
Het |
| Uvssa |
A |
G |
5: 33,566,461 (GRCm39) |
|
probably null |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,633 (GRCm39) |
V159I |
probably benign |
Het |
| Vmn2r73 |
T |
A |
7: 85,507,213 (GRCm39) |
T700S |
probably benign |
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 |
|
IGL02211:Slc25a25
|
APN |
2 |
32,307,452 (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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTTAGATGGGATGGAGGC -3'
(R):5'- AGAACAGTTTGTACCTGGCTG -3'
Sequencing Primer
(F):5'- CAGGTGCCATAGCCACC -3'
(R):5'- TGTACCTGGCTGGCCTGAAAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation