Incidental Mutation 'R6485:Slc25a30'
ID 517317
Institutional Source Beutler Lab
Gene Symbol Slc25a30
Ensembl Gene ENSMUSG00000022003
Gene Name solute carrier family 25, member 30
Synonyms KMCP1, 4933433D23Rik
MMRRC Submission 044617-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6485 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 75997557-76024477 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 76012447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 67 (A67E)
Ref Sequence ENSEMBL: ENSMUSP00000022580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022580] [ENSMUST00000227894]
AlphaFold Q9CR58
Predicted Effect probably damaging
Transcript: ENSMUST00000022580
AA Change: A67E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022580
Gene: ENSMUSG00000022003
AA Change: A67E

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: A16E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228528
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.1%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 C A 7: 120,026,390 (GRCm39) Y117* probably null Het
Acot5 A T 12: 84,122,258 (GRCm39) R281W probably damaging Het
Adamts20 T C 15: 94,241,852 (GRCm39) T719A probably benign Het
Arhgap33 T C 7: 30,223,429 (GRCm39) T867A probably benign Het
Bcl2a1c T C 9: 114,159,278 (GRCm39) Y19H probably benign Het
Bod1l A G 5: 41,974,459 (GRCm39) I2285T possibly damaging Het
Cacna2d1 A G 5: 16,559,655 (GRCm39) Y755C probably damaging Het
Cdc27 T C 11: 104,396,474 (GRCm39) T816A probably benign Het
Clasrp C A 7: 19,320,294 (GRCm39) probably benign Het
Col6a4 A G 9: 105,954,069 (GRCm39) probably null Het
Cpd T C 11: 76,699,533 (GRCm39) probably null Het
Crispld2 A G 8: 120,756,048 (GRCm39) D339G probably damaging Het
Dst A G 1: 34,333,610 (GRCm39) D7046G probably damaging Het
Erbin G T 13: 104,004,621 (GRCm39) Q136K probably damaging Het
Exph5 G A 9: 53,287,991 (GRCm39) E1691K possibly damaging Het
Fads6 A G 11: 115,176,264 (GRCm39) F187S probably benign Het
Foxg1 A T 12: 49,431,863 (GRCm39) I199F probably damaging Het
Garem1 T C 18: 21,262,894 (GRCm39) D640G probably benign Het
Gba2 A C 4: 43,574,118 (GRCm39) Y112D probably damaging Het
Gcfc2 T C 6: 81,916,528 (GRCm39) I323T probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gria4 T A 9: 4,464,249 (GRCm39) Y571F probably damaging Het
Large2 T C 2: 92,196,373 (GRCm39) T485A probably benign Het
Lonrf1 A G 8: 36,696,288 (GRCm39) probably null Het
Mrgprb5 T C 7: 47,818,525 (GRCm39) N70S probably damaging Het
Muc2 T A 7: 141,300,473 (GRCm39) probably benign Het
Nol4 T C 18: 22,903,850 (GRCm39) D375G probably damaging Het
Or2b2 A G 13: 21,887,600 (GRCm39) Q143R probably benign Het
Pcnt G T 10: 76,225,164 (GRCm39) S1780* probably null Het
Pdgfra A T 5: 75,335,735 (GRCm39) probably null Het
Pgd A T 4: 149,240,876 (GRCm39) probably null Het
Pla2g6 T C 15: 79,191,572 (GRCm39) I279V probably benign Het
Ptpn21 A T 12: 98,665,131 (GRCm39) C297* probably null Het
Ripply1 TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT TTCCTCCTCCTCCTCCTCCTCCTCCTCCT X: 138,680,599 (GRCm39) probably benign Het
Rtcb T C 10: 85,793,508 (GRCm39) I22V probably benign Het
Stk11ip T C 1: 75,506,612 (GRCm39) V605A possibly damaging Het
Ush1c A T 7: 45,858,534 (GRCm39) S585T probably benign Het
Vps13a T C 19: 16,657,414 (GRCm39) D1785G probably damaging Het
Zic5 T A 14: 122,697,052 (GRCm39) Y521F unknown 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
R5158:Slc25a30 UTSW 14 76,008,956 (GRCm39) missense probably damaging 1.00
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
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'- AGGTCAAGTCTTTTCTTGCTCACTT -3'
(R):5'- GGCTATTTCTTATTTCAGGGAGATTCT -3'

Sequencing Primer
(F):5'- CACTTTCCCATCAGTAGCTTAATG -3'
(R):5'- AACTTCCGAGAGATCAGG -3'
Posted On 2018-05-21