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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Mito_carr 1 70 3.1e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145200
SMART Domains Protein: ENSMUSP00000117220
Gene: ENSMUSG00000024818

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 16 32 N/A INTRINSIC
Pfam:FERM_M 136 202 9.6e-10 PFAM
Meta Mutation Damage Score 0.2545 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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