Incidental Mutation 'R1743:Slc25a30'
ID 200540
Institutional Source Beutler Lab
Gene Symbol Slc25a30
Ensembl Gene ENSMUSG00000022003
Gene Name solute carrier family 25, member 30
Synonyms KMCP1, 4933433D23Rik
MMRRC Submission 039775-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1743 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 75997557-76024477 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 76012523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 42 (A42S)
Ref Sequence ENSEMBL: ENSMUSP00000022580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022580] [ENSMUST00000227894]
AlphaFold Q9CR58
Predicted Effect probably benign
Transcript: ENSMUST00000022580
AA Change: A42S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000022580
Gene: ENSMUSG00000022003
AA Change: A42S

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 benign
Transcript: ENSMUST00000227894
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228528
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.7%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 T A 11: 53,259,522 (GRCm39) M11K possibly damaging Het
Ank2 T C 3: 126,722,324 (GRCm39) D88G probably damaging Het
Arhgap32 A G 9: 32,170,727 (GRCm39) E1169G probably benign Het
Atp7b A T 8: 22,496,403 (GRCm39) V865E probably damaging Het
Bcl2l13 T A 6: 120,825,504 (GRCm39) Y13* probably null Het
Birc6 A G 17: 74,886,751 (GRCm39) Q693R possibly damaging Het
Bub1 T C 2: 127,655,770 (GRCm39) D520G probably damaging Het
Ccdc15 A T 9: 37,188,773 (GRCm39) Y770* probably null Het
Cenpf T C 1: 189,386,460 (GRCm39) E1940G probably benign Het
Cep295 C T 9: 15,252,179 (GRCm39) E397K probably damaging Het
Cmya5 A G 13: 93,233,825 (GRCm39) V421A probably benign Het
Cnnm1 A T 19: 43,460,352 (GRCm39) Y698F possibly damaging Het
Cnst C T 1: 179,437,957 (GRCm39) T507I probably benign Het
Coq8a T C 1: 180,009,794 (GRCm39) M4V probably benign Het
Csmd3 A G 15: 48,485,485 (GRCm39) L140P probably damaging Het
Cul2 A T 18: 3,426,851 (GRCm39) I431F probably damaging Het
Dnah8 G T 17: 30,988,625 (GRCm39) E3198D probably benign Het
Dnai3 C A 3: 145,803,017 (GRCm39) R58L possibly damaging Het
Epn2 T A 11: 61,437,237 (GRCm39) I112F possibly damaging Het
Ext2 T C 2: 93,560,570 (GRCm39) E532G probably damaging Het
Fndc3a A T 14: 72,889,521 (GRCm39) V37E probably damaging Het
Gabbr2 A G 4: 46,677,603 (GRCm39) F759S possibly damaging Het
Ghr G A 15: 3,349,723 (GRCm39) P485L probably benign Het
Glipr1l2 G T 10: 111,928,470 (GRCm39) V122L probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gm6871 G T 7: 41,195,876 (GRCm39) T287K probably damaging Het
Gm7275 A G 16: 47,894,120 (GRCm39) noncoding transcript Het
Hephl1 C T 9: 15,001,364 (GRCm39) V254I probably damaging Het
Hnf4a C A 2: 163,408,259 (GRCm39) Q362K possibly damaging Het
Kcne3 C T 7: 99,833,631 (GRCm39) R83C probably damaging Het
Klb C A 5: 65,533,204 (GRCm39) N504K probably damaging Het
Loxl2 T A 14: 69,929,851 (GRCm39) I743N possibly damaging Het
Lrrc9 A T 12: 72,502,891 (GRCm39) L287F probably damaging Het
Mcm3ap C T 10: 76,320,508 (GRCm39) P822L possibly damaging Het
Nacc2 T C 2: 25,950,155 (GRCm39) N527S probably benign Het
Ncam1 G T 9: 49,468,445 (GRCm39) P338H probably damaging Het
Nfkbiz G T 16: 55,636,757 (GRCm39) Q515K possibly damaging Het
Nipsnap2 T C 5: 129,834,149 (GRCm39) L263P probably damaging Het
Nlrp1a A T 11: 71,015,032 (GRCm39) S73T probably benign Het
Nomo1 G A 7: 45,719,461 (GRCm39) probably null Het
Nos3 G A 5: 24,582,310 (GRCm39) G594D probably benign Het
Oprm1 A G 10: 6,780,105 (GRCm39) I256V probably damaging Het
Or10ak16 A G 4: 118,750,723 (GRCm39) T148A probably benign Het
Or10n1 A T 9: 39,524,916 (GRCm39) T18S possibly damaging Het
Or2b2 A G 13: 21,887,620 (GRCm39) I150V probably benign Het
Oxct2a A T 4: 123,217,309 (GRCm39) L24Q possibly damaging Het
Pcdhb14 T G 18: 37,581,231 (GRCm39) S112R probably benign Het
Polr2a A G 11: 69,630,329 (GRCm39) I1246T probably damaging Het
Ppil4 A T 10: 7,683,145 (GRCm39) K327N probably damaging Het
Pramel30 T C 4: 144,059,575 (GRCm39) S429P probably benign Het
Pstpip1 T C 9: 56,033,214 (GRCm39) Y249H probably damaging Het
Qrsl1 A T 10: 43,757,511 (GRCm39) V369E probably damaging Het
Ranbp10 G T 8: 106,506,610 (GRCm39) P237T probably damaging Het
Rapgef6 A G 11: 54,567,110 (GRCm39) N1097S probably damaging Het
Repin1 T A 6: 48,574,684 (GRCm39) S538T probably damaging Het
Rims2 A T 15: 39,543,046 (GRCm39) M1151L probably benign Het
Rin3 T A 12: 102,356,355 (GRCm39) D965E possibly damaging Het
Sdc2 A G 15: 33,028,224 (GRCm39) D114G probably benign Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Ssh2 T A 11: 77,328,582 (GRCm39) F383I probably damaging Het
St8sia1 A T 6: 142,774,742 (GRCm39) V279E probably damaging Het
Tacc2 C A 7: 130,228,328 (GRCm39) S1690* probably null Het
Taf1b A G 12: 24,597,177 (GRCm39) D372G possibly damaging Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tmem165 G T 5: 76,355,673 (GRCm39) G272C probably damaging Het
Tsc22d2 TCAGTTAACACCTATGAACAGT TCAGT 3: 58,324,960 (GRCm39) probably null Het
Tssk4 C A 14: 55,888,488 (GRCm39) A119D probably damaging Het
Usp9y A G Y: 1,316,727 (GRCm39) Y1941H probably damaging Het
Vmn2r42 A T 7: 8,187,264 (GRCm39) M786K probably benign Het
Wdfy3 G T 5: 101,991,931 (GRCm39) T3470K probably benign Het
Zc3h14 T C 12: 98,745,448 (GRCm39) V479A probably benign Het
Zfp821 G A 8: 110,450,796 (GRCm39) R263Q probably 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
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
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'- TCTTCTCCCTCTATGAAGGTGATGCG -3'
(R):5'- TCAGTCACTGAACACAGTCCTAGCC -3'

Sequencing Primer
(F):5'- GGCCCACAGTTAGACACAAA -3'
(R):5'- cagcccgtttccacctc -3'
Posted On 2014-05-23