Incidental Mutation 'R2405:Slc25a25'
| ID |
247942 |
| 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 |
040371-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2405 (G1)
|
| Quality Score |
212 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
32304499-32341457 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 32307731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028160]
[ENSMUST00000052119]
[ENSMUST00000113307]
[ENSMUST00000113308]
[ENSMUST00000113308]
[ENSMUST00000113310]
[ENSMUST00000136361]
[ENSMUST00000136361]
[ENSMUST00000153886]
|
| AlphaFold |
A2ASZ8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028160
|
| SMART Domains |
Protein: ENSMUSP00000028160
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 |
|
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 null
Transcript: ENSMUST00000052119
|
| SMART Domains |
Protein: ENSMUSP00000060581
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 |
|
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 null
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 null
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 null
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 null
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 |
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 null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000153782
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143092
|
| 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: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Abl1 |
T |
C |
2: 31,690,986 (GRCm39) |
L835P |
possibly damaging |
Het |
| Ascc3 |
T |
A |
10: 50,607,774 (GRCm39) |
V1426D |
probably damaging |
Het |
| Ccny |
A |
G |
18: 9,353,480 (GRCm39) |
Y98H |
probably benign |
Het |
| Ccser2 |
G |
A |
14: 36,660,626 (GRCm39) |
T509M |
probably damaging |
Het |
| Crnkl1 |
A |
T |
2: 145,770,077 (GRCm39) |
Y255* |
probably null |
Het |
| Cyp2d11 |
C |
T |
15: 82,273,467 (GRCm39) |
S468N |
possibly damaging |
Het |
| Dnah7b |
C |
A |
1: 46,402,114 (GRCm39) |
T3983N |
probably benign |
Het |
| Ebf1 |
T |
A |
11: 44,882,349 (GRCm39) |
M427K |
probably damaging |
Het |
| Fxr1 |
T |
A |
3: 34,116,003 (GRCm39) |
S438T |
probably damaging |
Het |
| Gabrr1 |
A |
T |
4: 33,157,110 (GRCm39) |
D209V |
probably damaging |
Het |
| Gbx2 |
G |
T |
1: 89,858,630 (GRCm39) |
|
probably benign |
Het |
| Gng14 |
A |
G |
8: 85,794,270 (GRCm39) |
I56T |
possibly damaging |
Het |
| Gulo |
A |
G |
14: 66,228,477 (GRCm39) |
|
probably null |
Het |
| Hhla1 |
A |
T |
15: 65,808,160 (GRCm39) |
L295* |
probably null |
Het |
| Hmcn1 |
T |
A |
1: 150,736,092 (GRCm39) |
I126L |
probably damaging |
Het |
| Hpse |
A |
G |
5: 100,856,637 (GRCm39) |
S121P |
possibly damaging |
Het |
| Inpp5d |
A |
G |
1: 87,627,451 (GRCm39) |
H321R |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kdm5b |
T |
A |
1: 134,536,754 (GRCm39) |
M658K |
probably damaging |
Het |
| Kidins220 |
A |
T |
12: 25,061,508 (GRCm39) |
E875V |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,511,810 (GRCm39) |
M53V |
unknown |
Het |
| Nlrp4b |
A |
G |
7: 10,448,655 (GRCm39) |
E286G |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Pde3a |
A |
T |
6: 141,426,968 (GRCm39) |
I710F |
probably damaging |
Het |
| Phb1 |
T |
C |
11: 95,566,094 (GRCm39) |
I126T |
probably benign |
Het |
| Ppp4r1 |
C |
T |
17: 66,118,341 (GRCm39) |
T164I |
possibly damaging |
Het |
| Psmc1 |
G |
A |
12: 100,086,362 (GRCm39) |
R333Q |
probably benign |
Het |
| Pygb |
A |
G |
2: 150,662,695 (GRCm39) |
Y554C |
probably benign |
Het |
| Ror2 |
G |
A |
13: 53,284,980 (GRCm39) |
P144L |
possibly damaging |
Het |
| Serpina3a |
A |
T |
12: 104,087,577 (GRCm39) |
M357L |
possibly damaging |
Het |
| Serpinb9e |
T |
A |
13: 33,444,063 (GRCm39) |
M361K |
probably benign |
Het |
| Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
| Slc15a2 |
G |
A |
16: 36,572,199 (GRCm39) |
Q691* |
probably null |
Het |
| Slc34a2 |
A |
G |
5: 53,215,523 (GRCm39) |
N9S |
probably benign |
Het |
| Slc4a2 |
A |
G |
5: 24,640,599 (GRCm39) |
T665A |
probably damaging |
Het |
| Spef2 |
C |
A |
15: 9,626,120 (GRCm39) |
E1149* |
probably null |
Het |
| Tmem179 |
A |
G |
12: 112,468,347 (GRCm39) |
W45R |
probably damaging |
Het |
| Tmpo |
C |
A |
10: 90,999,216 (GRCm39) |
K190N |
probably damaging |
Het |
| Triml1 |
T |
C |
8: 43,583,320 (GRCm39) |
Y427C |
probably damaging |
Het |
| Trpm2 |
A |
G |
10: 77,770,558 (GRCm39) |
L720P |
probably damaging |
Het |
| Vmn1r60 |
A |
G |
7: 5,547,912 (GRCm39) |
Y63H |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,818,102 (GRCm39) |
C560S |
probably damaging |
Het |
| Vps35l |
G |
C |
7: 118,391,818 (GRCm39) |
A410P |
probably damaging |
Het |
| Zdhhc13 |
A |
G |
7: 48,472,478 (GRCm39) |
|
probably null |
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 |
|
|
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'- TGAAGCTATCTATGCTGTCCCC -3'
(R):5'- GTTCTCCAAAACGGCTCCTC -3'
Sequencing Primer
(F):5'- TCTATGCTGTCCCCAAATGGAAGG -3'
(R):5'- TCCTCCCAGGGTAGACTGTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation