Incidental Mutation 'R5063:Slc25a45'
ID 386778
Institutional Source Beutler Lab
Gene Symbol Slc25a45
Ensembl Gene ENSMUSG00000024818
Gene Name solute carrier family 25, member 45
Synonyms
MMRRC Submission 042653-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R5063 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 5927828-5935796 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5934490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 153 (S153P)
Ref Sequence ENSEMBL: ENSMUSP00000121596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025732] [ENSMUST00000125114] [ENSMUST00000136833] [ENSMUST00000145200] [ENSMUST00000155697]
AlphaFold Q8CFJ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000025732
AA Change: S153P

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025732
Gene: ENSMUSG00000024818
AA Change: S153P

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 possibly damaging
Transcript: ENSMUST00000125114
AA Change: S153P

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122076
Gene: ENSMUSG00000024818
AA Change: S153P

DomainStartEndE-ValueType
Pfam:Mito_carr 1 87 4.7e-22 PFAM
Pfam:Mito_carr 95 195 3.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136833
SMART Domains Protein: ENSMUSP00000121602
Gene: ENSMUSG00000024818

DomainStartEndE-ValueType
Pfam:Mito_carr 1 102 2.5e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141362
SMART Domains Protein: ENSMUSP00000114648
Gene: ENSMUSG00000024818

DomainStartEndE-ValueType
Pfam:Mito_carr 1 70 3.1e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000145200
AA Change: S95P

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117220
Gene: ENSMUSG00000024818
AA Change: S95P

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 possibly damaging
Transcript: ENSMUST00000155697
AA Change: S153P

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121596
Gene: ENSMUSG00000024818
AA Change: S153P

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,901,315 (GRCm39) H970R probably benign Het
Anapc1 T C 2: 128,471,469 (GRCm39) M1496V possibly damaging Het
Arhgef4 A T 1: 34,763,296 (GRCm39) T851S probably benign Het
Armh3 A G 19: 45,874,394 (GRCm39) I593T possibly damaging Het
Cacna1d A G 14: 29,773,340 (GRCm39) S1782P probably benign Het
Capn13 T A 17: 73,629,074 (GRCm39) R578* probably null Het
Casp8 A T 1: 58,883,533 (GRCm39) H280L probably damaging Het
Cd274 G T 19: 29,361,543 (GRCm39) D284Y probably damaging Het
Cenpe T A 3: 134,976,715 (GRCm39) C2441S probably damaging Het
Chn2 A T 6: 54,267,272 (GRCm39) K118* probably null Het
Chst12 G T 5: 140,510,167 (GRCm39) E265* probably null Het
Cp C A 3: 20,043,379 (GRCm39) Q22K probably benign Het
Diaph3 A T 14: 87,222,306 (GRCm39) W404R probably damaging Het
Dnajb13 T G 7: 100,160,030 (GRCm39) E69A probably damaging Het
Dzip1l A G 9: 99,549,705 (GRCm39) E725G probably damaging Het
Dzip3 T A 16: 48,774,117 (GRCm39) K373* probably null Het
Fmn1 C T 2: 113,195,266 (GRCm39) T322I unknown Het
Gbp9 T C 5: 105,233,028 (GRCm39) Y208C probably benign Het
Gtf2i T A 5: 134,289,425 (GRCm39) K418N probably damaging Het
Herc3 C T 6: 58,832,745 (GRCm39) Q137* probably null Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Iqcm A T 8: 76,472,914 (GRCm39) D251V probably damaging Het
Itpr3 A T 17: 27,308,885 (GRCm39) I363F possibly damaging Het
Khnyn A T 14: 56,124,660 (GRCm39) K305* probably null Het
Klf17 A G 4: 117,617,856 (GRCm39) V167A possibly damaging Het
Letm2 T C 8: 26,071,795 (GRCm39) D369G probably benign Het
Lrrc31 A G 3: 30,744,085 (GRCm39) V141A possibly damaging Het
Msh5 A T 17: 35,261,164 (GRCm39) probably null Het
Neb G A 2: 52,113,224 (GRCm39) probably benign Het
Or10j5 T A 1: 172,785,009 (GRCm39) S216T possibly damaging Het
Or2t6 A T 14: 14,175,593 (GRCm38) M163K probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Padi6 T C 4: 140,469,191 (GRCm39) I50V probably benign Het
Pcdhb22 G T 18: 37,652,179 (GRCm39) G216C probably damaging Het
Ppy A G 11: 101,991,525 (GRCm39) Y5H probably benign Het
Psmc1 T C 12: 100,081,734 (GRCm39) L112S probably damaging Het
Ptov1 A G 7: 44,515,026 (GRCm39) I195T possibly damaging Het
Rassf10 C A 7: 112,553,631 (GRCm39) D77E probably benign Het
Slco1a5 G A 6: 142,204,791 (GRCm39) R126C probably damaging Het
Srebf2 T C 15: 82,061,652 (GRCm39) V366A probably benign Het
St6galnac5 T C 3: 152,686,772 (GRCm39) S61G probably benign Het
Sult6b1 A T 17: 79,213,005 (GRCm39) V82D probably benign Het
Tep1 A T 14: 51,088,084 (GRCm39) C818S possibly damaging Het
Tex15 T G 8: 34,072,638 (GRCm39) F2728L possibly damaging Het
Tm9sf2 T A 14: 122,382,558 (GRCm39) F190Y probably damaging Het
Tmem175 T C 5: 108,794,298 (GRCm39) L476P probably damaging Het
Tmprss11c T C 5: 86,385,689 (GRCm39) K248R probably benign Het
Tnk2 T A 16: 32,489,668 (GRCm39) F316I probably damaging Het
Vmn2r75 T A 7: 85,813,372 (GRCm39) M477L probably benign Het
Vmn2r83 A C 10: 79,314,921 (GRCm39) I390L probably benign Het
Vmn2r88 A G 14: 51,648,603 (GRCm39) Y49C probably damaging Het
Zdhhc4 T A 5: 143,302,377 (GRCm39) I318F probably damaging Het
Zmat4 A T 8: 24,238,457 (GRCm39) D27V 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
R4225: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
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'- CCTGTTGTGATGAAAAGCTGAC -3'
(R):5'- AGAACAGAGCATCTTCCAGTCC -3'

Sequencing Primer
(F):5'- AGCTGACATTTTTCAAGCCTAAGCC -3'
(R):5'- AGTTCCCTCCGTCGCCTATG -3'
Posted On 2016-06-06