Incidental Mutation 'R2276:Slc25a29'
ID 242821
Institutional Source Beutler Lab
Gene Symbol Slc25a29
Ensembl Gene ENSMUSG00000021265
Gene Name solute carrier family 25 (mitochondrial carrier, palmitoylcarnitine transporter), member 29
Synonyms mCACL, CACL, C030003J19Rik
MMRRC Submission 040275-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2276 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 108791804-108801802 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108792852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 242 (E242G)
Ref Sequence ENSEMBL: ENSMUSP00000021693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021693]
AlphaFold Q8BL03
Predicted Effect probably benign
Transcript: ENSMUST00000021693
AA Change: E242G

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000021693
Gene: ENSMUSG00000021265
AA Change: E242G

DomainStartEndE-ValueType
Pfam:Mito_carr 1 91 1.5e-21 PFAM
Pfam:Mito_carr 88 182 4.6e-25 PFAM
Pfam:Mito_carr 185 279 1.8e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137023
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139714
Meta Mutation Damage Score 0.4064 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear-encoded mitochondrial protein that is a member of the large family of solute carrier family 25 (SLC25) mitochondrial transporters. The members of this superfamily are involved in numerous metabolic pathways and cell functions. This gene product was previously reported to be a mitochondrial carnitine-acylcarnitine-like (CACL) translocase (PMID:128829710) or an ornithine transporter (designated ORNT3, PMID:19287344), however, a recent study characterized the main role of this protein as a mitochondrial transporter of basic amino acids, with a preference for arginine and lysine (PMID:24652292). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 T A 14: 78,747,477 (GRCm39) I1637L possibly damaging Het
Ankrd27 T C 7: 35,315,265 (GRCm39) probably benign Het
Anxa3 T C 5: 96,978,349 (GRCm39) probably null Het
Arfgef2 G C 2: 166,707,679 (GRCm39) G1025A probably benign Het
Arhgap21 T C 2: 20,868,037 (GRCm39) I829V possibly damaging Het
Arhgap42 T C 9: 9,035,512 (GRCm39) M277V probably benign Het
Cep112 A T 11: 108,746,671 (GRCm39) R176S probably damaging Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Cpped1 A C 16: 11,712,745 (GRCm39) probably null Het
Cr2 T C 1: 194,839,676 (GRCm39) R960G possibly damaging Het
Dbf4 T C 5: 8,471,333 (GRCm39) N36S possibly damaging Het
Dnah6 G A 6: 73,090,564 (GRCm39) S2210L probably benign Het
Dnajb12 C T 10: 59,728,799 (GRCm39) T229I probably benign Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Epb41l2 T C 10: 25,364,842 (GRCm39) probably benign Het
Fam178b A G 1: 36,671,539 (GRCm39) L194P probably damaging Het
Fam50b C T 13: 34,930,823 (GRCm39) Q100* probably null Het
Gimap9 A G 6: 48,654,812 (GRCm39) H133R probably benign Het
Gpbp1 A T 13: 111,603,512 (GRCm39) probably null Het
Gpr89 A G 3: 96,804,743 (GRCm39) Y38H probably damaging Het
Gsdmc3 T A 15: 63,732,105 (GRCm39) Y307F probably benign Het
H4c16 T A 6: 136,781,299 (GRCm39) I27F probably damaging Het
Hip1 C T 5: 135,485,900 (GRCm39) R101K probably damaging Het
Hsf4 G A 8: 105,996,628 (GRCm39) D18N probably null Het
Igfn1 T C 1: 135,892,479 (GRCm39) K2214E probably damaging Het
Itgal A T 7: 126,927,919 (GRCm39) E1038V probably null Het
Kank2 C A 9: 21,681,080 (GRCm39) M816I probably damaging Het
Kctd15 T C 7: 34,344,366 (GRCm39) D95G possibly damaging Het
Kif1a A T 1: 92,996,199 (GRCm39) probably benign Het
Lgi4 T G 7: 30,760,037 (GRCm39) L78V probably damaging Het
Lrrc7 A G 3: 157,885,429 (GRCm39) F432L probably damaging Het
Madd A T 2: 90,974,028 (GRCm39) C1419S possibly damaging Het
Nisch T C 14: 30,898,803 (GRCm39) probably benign Het
Or2h1b A T 17: 37,462,145 (GRCm39) C239* probably null Het
Osbpl2 G A 2: 179,790,319 (GRCm39) G198S possibly damaging Het
Pclo T A 5: 14,764,287 (GRCm39) D4253E unknown Het
Phactr1 A T 13: 43,231,265 (GRCm39) S244C possibly damaging Het
Pja2 T C 17: 64,599,865 (GRCm39) S478G probably damaging Het
Prex1 A T 2: 166,419,875 (GRCm39) I79N probably benign Het
Ptpn4 T C 1: 119,612,321 (GRCm39) D24G probably damaging Het
Rars2 T C 4: 34,656,835 (GRCm39) S495P probably damaging Het
Rhebl1 A T 15: 98,776,167 (GRCm39) D162E probably benign Het
Rhou T C 8: 124,382,258 (GRCm39) V100A probably damaging Het
Rpn2 A G 2: 157,152,208 (GRCm39) T394A possibly damaging Het
Ryr3 A T 2: 112,479,664 (GRCm39) M4386K possibly damaging Het
Scmh1 G T 4: 120,340,869 (GRCm39) C185F probably damaging Het
Sema3d A T 5: 12,592,549 (GRCm39) Q326L possibly damaging Het
Sis T A 3: 72,821,934 (GRCm39) K1376* probably null Het
Slc26a5 A G 5: 22,028,545 (GRCm39) V304A probably benign Het
Slc39a7 C T 17: 34,250,241 (GRCm39) probably benign Het
Slco1a4 A G 6: 141,761,308 (GRCm39) V435A possibly damaging Het
Syne2 A G 12: 75,974,240 (GRCm39) E1146G possibly damaging Het
Tgm5 T A 2: 120,879,304 (GRCm39) probably benign Het
Tgm7 A G 2: 120,929,045 (GRCm39) S284P probably damaging Het
Tmem132d G A 5: 127,872,987 (GRCm39) R541W probably damaging Het
Tmem170 C A 8: 112,596,349 (GRCm39) V59L probably benign Het
Tpbgl G T 7: 99,275,233 (GRCm39) A208E possibly damaging Het
Ttc23l A G 15: 10,523,678 (GRCm39) I347T possibly damaging Het
Ulk1 T C 5: 110,936,028 (GRCm39) E827G probably benign Het
Vps13a A G 19: 16,687,790 (GRCm39) V886A possibly damaging Het
Wrn A T 8: 33,814,584 (GRCm39) C44S probably benign Het
Zscan22 T A 7: 12,640,750 (GRCm39) C331* probably null Het
Other mutations in Slc25a29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03287:Slc25a29 APN 12 108,797,135 (GRCm39) missense possibly damaging 0.49
R0116:Slc25a29 UTSW 12 108,793,017 (GRCm39) missense possibly damaging 0.94
R1876:Slc25a29 UTSW 12 108,793,637 (GRCm39) missense probably damaging 0.98
R2094:Slc25a29 UTSW 12 108,793,358 (GRCm39) missense probably damaging 1.00
R2233:Slc25a29 UTSW 12 108,801,587 (GRCm39) missense possibly damaging 0.92
R2277:Slc25a29 UTSW 12 108,792,852 (GRCm39) missense probably benign 0.09
R2279:Slc25a29 UTSW 12 108,792,852 (GRCm39) missense probably benign 0.09
R2383:Slc25a29 UTSW 12 108,792,934 (GRCm39) missense probably damaging 1.00
R4366:Slc25a29 UTSW 12 108,797,097 (GRCm39) intron probably benign
R7859:Slc25a29 UTSW 12 108,792,756 (GRCm39) missense probably benign 0.01
R9776:Slc25a29 UTSW 12 108,793,017 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- AGCATCACAGACTGGAAGGC -3'
(R):5'- ACCTATGATGTAATGACCCGC -3'

Sequencing Primer
(F):5'- AGACTGGAAGGCTGGGC -3'
(R):5'- ATGTAATGACCCGCGCCATG -3'
Posted On 2014-10-16