Incidental Mutation 'R1208:Slc25a25'
| ID |
164813 |
| 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 |
039277-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1208 (G1)
|
| Quality Score |
210 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
32304499-32341457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32307437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 309
(E309G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108936
(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: E321G
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000028160
Gene: ENSMUSG00000026819
AA Change: E321G
| 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: E308G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000060581
Gene: ENSMUSG00000026819
AA Change: E308G
| 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: E276G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000108932
Gene: ENSMUSG00000026819
AA Change: E276G
| 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: E296G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000108933
Gene: ENSMUSG00000026819
AA Change: E296G
| 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: E309G
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000108936
Gene: ENSMUSG00000026819
AA Change: E309G
| 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: E261G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000115617
Gene: ENSMUSG00000026819
AA Change: E261G
| 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 |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
C |
A |
7: 29,260,708 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl2fm3 |
C |
T |
3: 59,772,715 (GRCm39) |
P73L |
probably benign |
Het |
| Asb14 |
T |
C |
14: 26,622,375 (GRCm39) |
|
probably benign |
Het |
| Atp13a3 |
A |
T |
16: 30,173,065 (GRCm39) |
C271S |
probably benign |
Het |
| Ccl25 |
T |
A |
8: 4,407,631 (GRCm39) |
S199T |
possibly damaging |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cep104 |
A |
T |
4: 154,069,836 (GRCm39) |
D270V |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,327,877 (GRCm39) |
Y2084N |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,755,592 (GRCm39) |
V214A |
probably benign |
Het |
| Epb41l4b |
C |
T |
4: 57,077,252 (GRCm39) |
|
probably null |
Het |
| Gys2 |
A |
G |
6: 142,396,193 (GRCm39) |
|
probably null |
Het |
| Lig4 |
T |
C |
8: 10,021,062 (GRCm39) |
E906G |
probably damaging |
Het |
| Mast3 |
G |
A |
8: 71,240,916 (GRCm39) |
|
probably null |
Het |
| Mta2 |
G |
A |
19: 8,928,381 (GRCm39) |
R560H |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,134,631 (GRCm39) |
L478P |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,193,912 (GRCm39) |
L673* |
probably null |
Het |
| Niban3 |
A |
T |
8: 72,053,119 (GRCm39) |
T125S |
probably damaging |
Het |
| Or4c35 |
G |
A |
2: 89,808,836 (GRCm39) |
C238Y |
probably damaging |
Het |
| Pdpk1 |
C |
A |
17: 24,312,583 (GRCm39) |
|
probably null |
Het |
| Pphln1 |
T |
C |
15: 93,357,610 (GRCm39) |
W162R |
probably damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,811,339 (GRCm39) |
V183A |
probably damaging |
Het |
| Recql5 |
T |
C |
11: 115,783,982 (GRCm39) |
K951E |
probably damaging |
Het |
| Rev1 |
T |
C |
1: 38,098,199 (GRCm39) |
|
probably benign |
Het |
| Slc25a36 |
T |
C |
9: 96,967,188 (GRCm39) |
|
probably benign |
Het |
| Sycp2 |
A |
T |
2: 177,998,421 (GRCm39) |
I1033N |
possibly damaging |
Het |
| Tbpl2 |
A |
T |
2: 23,984,783 (GRCm39) |
N120K |
probably benign |
Het |
| Unc5b |
A |
T |
10: 60,602,771 (GRCm39) |
L876Q |
probably damaging |
Het |
| Usp9y |
T |
C |
Y: 1,356,282 (GRCm39) |
T1140A |
probably benign |
Homo |
| Vmn1r40 |
A |
G |
6: 89,691,326 (GRCm39) |
I48V |
probably benign |
Het |
| Zbbx |
T |
C |
3: 74,945,299 (GRCm39) |
I708V |
possibly damaging |
Het |
| Zfp318 |
AGAAGA |
AGAAGAGGAAGA |
17: 46,723,446 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTAGCCAAGATCCTCCTGGCAC -3'
(R):5'- CTCCTTCCATTTGGGGACAGCATAG -3'
Sequencing Primer
(F):5'- GCCATTCGGGTCTTCAGAAC -3'
(R):5'- TAGATAGCTTCACGGTCACAG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation