Incidental Mutation 'R5158:Slc25a30'
ID 396847
Institutional Source Beutler Lab
Gene Symbol Slc25a30
Ensembl Gene ENSMUSG00000022003
Gene Name solute carrier family 25, member 30
Synonyms KMCP1, 4933433D23Rik
MMRRC Submission 042740-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5158 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 75997557-76024477 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76008956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 26 (L26Q)
Ref Sequence ENSEMBL: ENSMUSP00000153810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022580] [ENSMUST00000227894]
AlphaFold Q9CR58
Predicted Effect probably damaging
Transcript: ENSMUST00000022580
AA Change: L77Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022580
Gene: ENSMUSG00000022003
AA Change: L77Q

DomainStartEndE-ValueType
Pfam:Mito_carr 2 100 1.2e-22 PFAM
Pfam:Mito_carr 102 194 3.2e-22 PFAM
Pfam:Mito_carr 197 290 7.4e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226574
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227621
Predicted Effect probably damaging
Transcript: ENSMUST00000227894
AA Change: L26Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Although the outer mitochondrial membrane is permeable to many small metabolites, transport of solutes across the inner mitochondrial membrane is achieved by members of the mitochondrial carrier protein family, such as SLC25A30 (Haguenauer et al., 2005 [PubMed 15809292]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 C T 17: 45,825,755 (GRCm39) T357I probably benign Het
Abca14 A T 7: 119,852,652 (GRCm39) R872S probably benign Het
Adnp2 A G 18: 80,180,758 (GRCm39) Y47H probably damaging Het
Atp6v0d2 T C 4: 19,878,292 (GRCm39) N327S probably damaging Het
Ccdc190 A G 1: 169,760,578 (GRCm39) R69G probably benign Het
Cfap54 T C 10: 92,901,059 (GRCm39) D213G probably damaging Het
Clcn4 G A 7: 7,294,618 (GRCm39) T381I possibly damaging Het
Cobl A G 11: 12,206,198 (GRCm39) F477S possibly damaging Het
Ctdspl2 T A 2: 121,811,774 (GRCm39) V205E probably benign Het
Dhx37 A T 5: 125,492,216 (GRCm39) Y1128N probably damaging Het
Ehmt2 G A 17: 35,130,640 (GRCm39) E1085K probably damaging Het
Fam149a T G 8: 45,803,472 (GRCm39) I340L possibly damaging Het
Fut9 T A 4: 25,620,731 (GRCm39) I28F probably benign Het
Il36g T A 2: 24,082,798 (GRCm39) I191K probably damaging Het
Iqgap1 T C 7: 80,392,816 (GRCm39) N716D probably benign Het
Itgb7 T C 15: 102,125,464 (GRCm39) D672G probably benign Het
Kat6b A G 14: 21,720,054 (GRCm39) M1469V possibly damaging Het
Kif3a T C 11: 53,479,578 (GRCm39) F430L probably benign Het
L3mbtl3 T C 10: 26,179,586 (GRCm39) D523G unknown Het
Mcf2l A G 8: 13,059,715 (GRCm39) Q736R probably damaging Het
Mpl T G 4: 118,313,881 (GRCm39) D128A probably damaging Het
Myom3 T A 4: 135,492,897 (GRCm39) C149S probably damaging Het
N4bp2 A G 5: 65,965,805 (GRCm39) I1285V probably damaging Het
Nalcn T C 14: 123,753,149 (GRCm39) Q279R probably damaging Het
Ndc1 T G 4: 107,232,362 (GRCm39) S182R probably damaging Het
Ngf A T 3: 102,427,445 (GRCm39) M65L possibly damaging Het
Or2n1 T A 17: 38,486,345 (GRCm39) Y123* probably null Het
Pigb T C 9: 72,929,683 (GRCm39) Y300C probably damaging Het
Pla2g2a T G 4: 138,560,595 (GRCm39) *69G probably null Het
Ppp1r12b T C 1: 134,814,166 (GRCm39) E379G probably damaging Het
Ptdss2 T C 7: 140,731,684 (GRCm39) F164S probably benign Het
Ptprc T C 1: 138,102,822 (GRCm39) T2A possibly damaging Het
Ptprq T A 10: 107,370,565 (GRCm39) N2042I probably damaging Het
Rdh10 A T 1: 16,178,221 (GRCm39) R164S probably damaging Het
Sec31a A T 5: 100,541,180 (GRCm39) I309N probably damaging Het
Skint5 A T 4: 113,599,409 (GRCm39) I710N unknown Het
Sptan1 G A 2: 29,868,455 (GRCm39) V34I probably damaging Het
Sult1e1 A T 5: 87,735,453 (GRCm39) I75N probably damaging Het
Trpa1 A G 1: 14,951,885 (GRCm39) V938A probably benign Het
Vps16 C T 2: 130,283,199 (GRCm39) R531C probably damaging Het
Zbtb22 C T 17: 34,137,423 (GRCm39) H523Y probably damaging Het
Zfp39 G A 11: 58,780,671 (GRCm39) T697M possibly damaging Het
Other mutations in Slc25a30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Slc25a30 APN 14 76,004,365 (GRCm39) missense possibly damaging 0.90
IGL00922:Slc25a30 APN 14 76,007,038 (GRCm39) missense probably damaging 1.00
IGL01310:Slc25a30 APN 14 76,007,037 (GRCm39) missense probably damaging 1.00
IGL02135:Slc25a30 APN 14 76,004,435 (GRCm39) missense probably benign 0.00
IGL02573:Slc25a30 APN 14 76,007,108 (GRCm39) splice site probably benign
R0044:Slc25a30 UTSW 14 76,007,089 (GRCm39) missense probably benign 0.37
R0330:Slc25a30 UTSW 14 76,000,112 (GRCm39) nonsense probably null
R1743:Slc25a30 UTSW 14 76,012,523 (GRCm39) missense probably benign 0.01
R1744:Slc25a30 UTSW 14 76,000,770 (GRCm39) missense probably damaging 1.00
R1950:Slc25a30 UTSW 14 76,007,007 (GRCm39) missense possibly damaging 0.55
R2122:Slc25a30 UTSW 14 76,007,658 (GRCm39) missense possibly damaging 0.90
R2880:Slc25a30 UTSW 14 76,007,651 (GRCm39) missense probably benign 0.05
R4791:Slc25a30 UTSW 14 76,000,806 (GRCm39) missense probably benign 0.00
R5198:Slc25a30 UTSW 14 76,007,056 (GRCm39) missense probably benign 0.03
R5505:Slc25a30 UTSW 14 76,000,789 (GRCm39) missense probably damaging 1.00
R6485:Slc25a30 UTSW 14 76,012,447 (GRCm39) missense probably damaging 1.00
R8393:Slc25a30 UTSW 14 76,012,451 (GRCm39) missense probably benign 0.04
R8859:Slc25a30 UTSW 14 76,008,917 (GRCm39) missense probably benign 0.42
X0027:Slc25a30 UTSW 14 76,004,413 (GRCm39) missense probably benign 0.38
Predicted Primers PCR Primer
(F):5'- GAGCAGTTTGTTTACTCTTTGTACC -3'
(R):5'- TTCAAGACCCAAGTGTGCTTTTC -3'

Sequencing Primer
(F):5'- AGTTTGTTTACTCTTTGTACCCAGTC -3'
(R):5'- ACAGCCTACATATGGGGCTC -3'
Posted On 2016-06-21