Incidental Mutation 'R8031:Slc25a25'
| ID |
617932 |
| 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 |
067469-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8031 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
32304499-32341457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32311517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 118
(L118Q)
|
| 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 damaging
Transcript: ENSMUST00000028160
AA Change: L118Q
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028160
Gene: ENSMUSG00000026819
AA Change: L118Q
| 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 |
possibly damaging
Transcript: ENSMUST00000052119
AA Change: L105Q
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000060581
Gene: ENSMUSG00000026819
AA Change: L105Q
| 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 |
possibly damaging
Transcript: ENSMUST00000113307
AA Change: L85Q
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108932
Gene: ENSMUSG00000026819
AA Change: L85Q
| 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 damaging
Transcript: ENSMUST00000113308
AA Change: L105Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108933
Gene: ENSMUSG00000026819
AA Change: L105Q
| 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 damaging
Transcript: ENSMUST00000113310
AA Change: L118Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108936
Gene: ENSMUSG00000026819
AA Change: L118Q
| 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: L69Q
| 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 damaging
Transcript: ENSMUST00000136361
AA Change: L70Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115617
Gene: ENSMUSG00000026819
AA Change: L70Q
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (60/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
T |
C |
11: 105,888,924 (GRCm39) |
|
probably null |
Het |
| Arhgdib |
A |
G |
6: 136,901,274 (GRCm39) |
Y152H |
probably benign |
Het |
| Atxn10 |
T |
G |
15: 85,277,594 (GRCm39) |
S354A |
probably benign |
Het |
| Cacng6 |
T |
C |
7: 3,473,401 (GRCm39) |
V75A |
possibly damaging |
Het |
| Cdc23 |
A |
G |
18: 34,784,741 (GRCm39) |
V7A |
unknown |
Het |
| Cdc40 |
T |
A |
10: 40,728,512 (GRCm39) |
E157D |
probably benign |
Het |
| Defa25 |
T |
A |
8: 21,575,253 (GRCm39) |
N77K |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Efcab3 |
T |
C |
11: 104,772,295 (GRCm39) |
V2659A |
possibly damaging |
Het |
| Efcab6 |
T |
C |
15: 83,867,699 (GRCm39) |
K260E |
possibly damaging |
Het |
| Eif4a3 |
T |
C |
11: 119,179,731 (GRCm39) |
Y352C |
probably damaging |
Het |
| Erc2 |
A |
T |
14: 27,733,649 (GRCm39) |
K566N |
probably damaging |
Het |
| Fam3b |
A |
C |
16: 97,283,052 (GRCm39) |
Y74* |
probably null |
Het |
| Flg2 |
T |
A |
3: 93,127,521 (GRCm39) |
S2144R |
unknown |
Het |
| Fmo4 |
G |
T |
1: 162,626,421 (GRCm39) |
S375* |
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,817,235 (GRCm39) |
T4323A |
probably benign |
Het |
| Gm16503 |
A |
T |
4: 147,625,767 (GRCm39) |
H87L |
unknown |
Het |
| Hes7 |
C |
T |
11: 69,013,591 (GRCm39) |
A150V |
probably damaging |
Het |
| Hk1 |
T |
A |
10: 62,132,478 (GRCm39) |
N190I |
probably benign |
Het |
| Il17rc |
A |
G |
6: 113,459,782 (GRCm39) |
D576G |
probably damaging |
Het |
| Inhba |
T |
A |
13: 16,200,860 (GRCm39) |
S141T |
possibly damaging |
Het |
| Itga8 |
G |
T |
2: 12,160,297 (GRCm39) |
D840E |
probably benign |
Het |
| Kazn |
T |
C |
4: 141,881,862 (GRCm39) |
E126G |
|
Het |
| Kcnk13 |
A |
G |
12: 99,932,438 (GRCm39) |
Y78C |
probably damaging |
Het |
| Kcnt1 |
C |
A |
2: 25,798,054 (GRCm39) |
|
probably benign |
Het |
| Krt42 |
G |
C |
11: 100,155,865 (GRCm39) |
R294G |
possibly damaging |
Het |
| Myo9a |
A |
G |
9: 59,687,374 (GRCm39) |
K160E |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,107,747 (GRCm39) |
R585G |
probably benign |
Het |
| Ntrk2 |
T |
C |
13: 59,022,193 (GRCm39) |
I416T |
probably benign |
Het |
| Or4c112 |
A |
T |
2: 88,853,972 (GRCm39) |
I125N |
probably damaging |
Het |
| Or52h7 |
T |
A |
7: 104,214,316 (GRCm39) |
I296N |
probably damaging |
Het |
| Or5k14 |
T |
C |
16: 58,693,054 (GRCm39) |
N153S |
probably benign |
Het |
| Or8k33 |
G |
A |
2: 86,384,447 (GRCm39) |
T7I |
probably damaging |
Het |
| P4ha3 |
A |
G |
7: 99,941,905 (GRCm39) |
E106G |
probably damaging |
Het |
| Pcif1 |
A |
G |
2: 164,728,442 (GRCm39) |
N233S |
probably damaging |
Het |
| Pgm2l1 |
C |
A |
7: 99,921,625 (GRCm39) |
R619S |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,376,230 (GRCm39) |
Q964R |
probably damaging |
Het |
| Pla2g4a |
T |
A |
1: 149,776,964 (GRCm39) |
I89F |
possibly damaging |
Het |
| Ppp1cc |
G |
A |
5: 122,312,151 (GRCm39) |
A306T |
probably benign |
Het |
| Psmd4 |
T |
C |
3: 94,943,203 (GRCm39) |
D67G |
probably damaging |
Het |
| Ptprt |
G |
A |
2: 161,977,377 (GRCm39) |
T307I |
probably damaging |
Het |
| Rnf213 |
C |
A |
11: 119,321,107 (GRCm39) |
C1188* |
probably null |
Het |
| Ror2 |
C |
T |
13: 53,267,193 (GRCm39) |
C426Y |
probably damaging |
Het |
| Sacs |
C |
T |
14: 61,441,640 (GRCm39) |
H1229Y |
probably damaging |
Het |
| Slc38a6 |
G |
A |
12: 73,397,377 (GRCm39) |
A340T |
probably benign |
Het |
| Smarca5 |
A |
T |
8: 81,431,311 (GRCm39) |
Y969N |
probably damaging |
Het |
| Sorbs1 |
C |
A |
19: 40,314,933 (GRCm39) |
M626I |
probably benign |
Het |
| Spink5 |
T |
A |
18: 44,143,303 (GRCm39) |
D753E |
probably benign |
Het |
| Taf1d |
T |
G |
9: 15,221,695 (GRCm39) |
I226S |
probably damaging |
Het |
| Tmem225 |
A |
G |
9: 40,060,689 (GRCm39) |
I83V |
possibly damaging |
Het |
| Top2b |
A |
G |
14: 16,412,986 (GRCm38) |
D965G |
probably damaging |
Het |
| Traf3ip1 |
A |
G |
1: 91,429,141 (GRCm39) |
K303E |
probably damaging |
Het |
| Ube2n |
C |
T |
10: 95,377,244 (GRCm39) |
R70C |
probably benign |
Het |
| Ubl7 |
C |
T |
9: 57,830,489 (GRCm39) |
P312S |
probably damaging |
Het |
| Vmn1r34 |
A |
T |
6: 66,614,165 (GRCm39) |
M191K |
probably damaging |
Het |
| Vmn2r103 |
C |
T |
17: 20,013,759 (GRCm39) |
H184Y |
probably benign |
Het |
| Vmn2r104 |
T |
C |
17: 20,263,048 (GRCm39) |
I138V |
probably benign |
Het |
| Vmn2r49 |
T |
C |
7: 9,720,408 (GRCm39) |
E361G |
possibly damaging |
Het |
| Vmn2r78 |
T |
C |
7: 86,604,075 (GRCm39) |
L751P |
probably damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,568,070 (GRCm39) |
I1121N |
not run |
Het |
| Zfp235 |
T |
A |
7: 23,841,114 (GRCm39) |
V511E |
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 |
|
|
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 |
|
|
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'- GCTGTTCCGAGATCTTGACAC -3'
(R):5'- TAGGATTCCCATGGGCTGATAG -3'
Sequencing Primer
(F):5'- TTCCGAGATCTTGACACCCAGG -3'
(R):5'- CCTTAGAGATAGGACATCTTGGGTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation