Incidental Mutation 'R4225:Slc25a45'
ID |
320022 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc25a45
|
Ensembl Gene |
ENSMUSG00000024818 |
Gene Name |
solute carrier family 25, member 45 |
Synonyms |
|
MMRRC Submission |
041045-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R4225 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
5927828-5935796 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 5930146 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 39
(I39F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121596
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025728]
[ENSMUST00000025732]
[ENSMUST00000125114]
[ENSMUST00000136833]
[ENSMUST00000145200]
[ENSMUST00000155697]
[ENSMUST00000155227]
|
AlphaFold |
Q8CFJ7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025728
|
SMART Domains |
Protein: ENSMUSP00000025728 Gene: ENSMUSG00000024816
Domain | Start | End | E-Value | Type |
B41
|
26 |
273 |
9.58e-4 |
SMART |
low complexity region
|
383 |
398 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025732
AA Change: I39F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025732 Gene: ENSMUSG00000024818 AA Change: I39F
Domain | Start | End | E-Value | Type |
Pfam:Mito_carr
|
1 |
87 |
1.2e-20 |
PFAM |
Pfam:Mito_carr
|
95 |
195 |
6.9e-22 |
PFAM |
Pfam:Mito_carr
|
197 |
288 |
7e-23 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000125114
AA Change: I39F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122076 Gene: ENSMUSG00000024818 AA Change: I39F
Domain | Start | End | E-Value | Type |
Pfam:Mito_carr
|
1 |
87 |
4.7e-22 |
PFAM |
Pfam:Mito_carr
|
95 |
195 |
3.4e-23 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000136833
AA Change: I39F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121602 Gene: ENSMUSG00000024818 AA Change: I39F
Domain | Start | End | E-Value | Type |
Pfam:Mito_carr
|
1 |
102 |
2.5e-20 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000141362
AA Change: I38F
|
SMART Domains |
Protein: ENSMUSP00000114648 Gene: ENSMUSG00000024818 AA Change: I38F
Domain | Start | End | E-Value | Type |
Pfam:Mito_carr
|
1 |
70 |
3.1e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145200
|
SMART Domains |
Protein: ENSMUSP00000117220 Gene: ENSMUSG00000024818
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
Pfam:Mito_carr
|
37 |
137 |
5.1e-23 |
PFAM |
Pfam:Mito_carr
|
139 |
195 |
4.1e-12 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155697
AA Change: I39F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121596 Gene: ENSMUSG00000024818 AA Change: I39F
Domain | Start | End | E-Value | Type |
Pfam:Mito_carr
|
1 |
87 |
8.9e-22 |
PFAM |
Pfam:Mito_carr
|
95 |
195 |
6.8e-23 |
PFAM |
Pfam:Mito_carr
|
197 |
288 |
2.4e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155227
|
SMART Domains |
Protein: ENSMUSP00000116453 Gene: ENSMUSG00000024816
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
32 |
N/A |
INTRINSIC |
Pfam:FERM_M
|
136 |
202 |
9.6e-10 |
PFAM |
|
Meta Mutation Damage Score |
0.2545 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
100% (38/38) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A45 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
T |
C |
4: 53,085,106 (GRCm39) |
I569V |
possibly damaging |
Het |
Aif1l |
A |
T |
2: 31,852,251 (GRCm39) |
S40C |
probably damaging |
Het |
Arhgef26 |
A |
G |
3: 62,288,343 (GRCm39) |
D471G |
probably benign |
Het |
Atp2a2 |
A |
G |
5: 122,607,789 (GRCm39) |
V240A |
probably benign |
Het |
Bsn |
A |
G |
9: 107,983,932 (GRCm39) |
M3374T |
unknown |
Het |
Ccdc66 |
A |
G |
14: 27,212,736 (GRCm39) |
L529P |
probably damaging |
Het |
Ctif |
A |
G |
18: 75,568,308 (GRCm39) |
I610T |
probably benign |
Het |
Ecpas |
A |
T |
4: 58,847,027 (GRCm39) |
Y512N |
probably damaging |
Het |
Eif3c |
C |
G |
7: 126,165,471 (GRCm39) |
|
probably benign |
Het |
Esyt1 |
T |
C |
10: 128,356,517 (GRCm39) |
Y376C |
probably damaging |
Het |
Gba2 |
A |
T |
4: 43,569,464 (GRCm39) |
|
probably benign |
Het |
Grin1 |
T |
C |
2: 25,187,332 (GRCm39) |
|
probably benign |
Het |
Herc2 |
A |
G |
7: 55,814,735 (GRCm39) |
E2696G |
probably damaging |
Het |
Itgal |
A |
T |
7: 126,904,484 (GRCm39) |
K319M |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,583,460 (GRCm39) |
C683R |
probably damaging |
Het |
Lrig1 |
T |
A |
6: 94,599,639 (GRCm39) |
I348F |
probably damaging |
Het |
Mc3r |
G |
A |
2: 172,090,954 (GRCm39) |
V59M |
probably damaging |
Het |
Msh3 |
T |
C |
13: 92,422,431 (GRCm39) |
K575R |
probably benign |
Het |
Musk |
A |
T |
4: 58,373,240 (GRCm39) |
M714L |
probably damaging |
Het |
Odad2 |
A |
G |
18: 7,181,732 (GRCm39) |
|
probably null |
Het |
Pcdhgb7 |
T |
A |
18: 37,886,856 (GRCm39) |
D675E |
probably benign |
Het |
Pkd1 |
T |
C |
17: 24,812,497 (GRCm39) |
I3810T |
possibly damaging |
Het |
Pou2f1 |
T |
C |
1: 165,738,889 (GRCm39) |
I177V |
possibly damaging |
Het |
Rb1 |
T |
C |
14: 73,506,631 (GRCm39) |
M373V |
possibly damaging |
Het |
Ric1 |
A |
G |
19: 29,580,131 (GRCm39) |
N1311D |
possibly damaging |
Het |
Scn3a |
A |
G |
2: 65,366,771 (GRCm39) |
Y84H |
probably damaging |
Het |
Slc8a1 |
A |
G |
17: 81,956,781 (GRCm39) |
F86L |
probably damaging |
Het |
Spdya |
G |
A |
17: 71,869,519 (GRCm39) |
V105I |
probably benign |
Het |
Sspo |
G |
T |
6: 48,428,091 (GRCm39) |
V313L |
possibly damaging |
Het |
Stard9 |
A |
G |
2: 120,495,472 (GRCm39) |
T116A |
possibly damaging |
Het |
Stpg2 |
G |
A |
3: 138,921,053 (GRCm39) |
R86Q |
probably damaging |
Het |
Tdrd6 |
C |
T |
17: 43,936,864 (GRCm39) |
D1395N |
probably damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,831,951 (GRCm39) |
I649N |
probably damaging |
Het |
Zcchc18 |
A |
T |
X: 135,895,415 (GRCm39) |
N10I |
probably damaging |
Het |
|
Other mutations in Slc25a45 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02523:Slc25a45
|
APN |
19 |
5,934,637 (GRCm39) |
splice site |
probably null |
|
IGL02620:Slc25a45
|
APN |
19 |
5,934,554 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02622:Slc25a45
|
APN |
19 |
5,928,725 (GRCm39) |
splice site |
probably benign |
|
R0055:Slc25a45
|
UTSW |
19 |
5,930,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R0055:Slc25a45
|
UTSW |
19 |
5,930,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R0630:Slc25a45
|
UTSW |
19 |
5,930,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R1464:Slc25a45
|
UTSW |
19 |
5,929,928 (GRCm39) |
splice site |
probably benign |
|
R1764:Slc25a45
|
UTSW |
19 |
5,934,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R1902:Slc25a45
|
UTSW |
19 |
5,934,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R2372:Slc25a45
|
UTSW |
19 |
5,934,580 (GRCm39) |
missense |
probably benign |
0.00 |
R3547:Slc25a45
|
UTSW |
19 |
5,934,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R3889:Slc25a45
|
UTSW |
19 |
5,930,661 (GRCm39) |
splice site |
probably benign |
|
R4173:Slc25a45
|
UTSW |
19 |
5,930,611 (GRCm39) |
nonsense |
probably null |
|
R4222:Slc25a45
|
UTSW |
19 |
5,930,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R4223:Slc25a45
|
UTSW |
19 |
5,930,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R4598:Slc25a45
|
UTSW |
19 |
5,934,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R4998:Slc25a45
|
UTSW |
19 |
5,934,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R5063:Slc25a45
|
UTSW |
19 |
5,934,490 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5711:Slc25a45
|
UTSW |
19 |
5,934,451 (GRCm39) |
missense |
probably benign |
|
R6693:Slc25a45
|
UTSW |
19 |
5,930,162 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7486:Slc25a45
|
UTSW |
19 |
5,934,997 (GRCm39) |
missense |
probably damaging |
0.96 |
R8437:Slc25a45
|
UTSW |
19 |
5,930,135 (GRCm39) |
missense |
probably benign |
0.06 |
R9415:Slc25a45
|
UTSW |
19 |
5,934,967 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Slc25a45
|
UTSW |
19 |
5,934,460 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Slc25a45
|
UTSW |
19 |
5,930,207 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTGAGTGTAGCAAAGGCACC -3'
(R):5'- ACCACTTTTGAGGCACTAGAG -3'
Sequencing Primer
(F):5'- ATAGATGGTCTGGCTGGAACC -3'
(R):5'- CACTTTTGAGGCACTAGAGGACTC -3'
|
Posted On |
2015-06-12 |