Incidental Mutation 'R4366:Slc25a29'
ID 325766
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 041114-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4366 (G1)
Quality Score 213
Status Validated
Chromosome 12
Chromosomal Location 108791804-108801802 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 108797097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000021693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021693]
AlphaFold Q8BL03
Predicted Effect probably benign
Transcript: ENSMUST00000021693
SMART Domains Protein: ENSMUSP00000021693
Gene: ENSMUSG00000021265

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223296
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency 95% (57/60)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 A C 17: 43,752,860 (GRCm39) T396P probably damaging Het
Apob A T 12: 8,066,083 (GRCm39) I4318F possibly damaging Het
Apol7c T G 15: 77,410,589 (GRCm39) D119A probably benign Het
App G T 16: 84,853,321 (GRCm39) D252E unknown Het
C4a T A 17: 35,033,885 (GRCm39) noncoding transcript Het
Cacna1b T C 2: 24,592,632 (GRCm39) Y515C probably damaging Het
Cacna1f G T X: 7,476,213 (GRCm39) A123S probably damaging Het
Cldn6 G C 17: 23,900,494 (GRCm39) A153P probably benign Het
Cmya5 T C 13: 93,228,464 (GRCm39) N2208S probably benign Het
Csnk1g1 A G 9: 65,927,135 (GRCm39) T101A probably benign Het
Ddx46 T A 13: 55,811,049 (GRCm39) D544E probably benign Het
Dmxl1 T A 18: 50,011,084 (GRCm39) C1080* probably null Het
Dst T C 1: 34,290,959 (GRCm39) S3335P probably damaging Het
Efnb3 T C 11: 69,446,771 (GRCm39) K313R probably damaging Het
Elf2 G A 3: 51,215,570 (GRCm39) Q47* probably null Het
Epc2 A G 2: 49,437,566 (GRCm39) K657E possibly damaging Het
Ephx4 A G 5: 107,551,679 (GRCm39) probably benign Het
Ereg T C 5: 91,234,659 (GRCm39) I24T probably benign Het
Evc2 C A 5: 37,496,013 (GRCm39) A41D possibly damaging Het
Fkbp15 A G 4: 62,254,651 (GRCm39) V283A probably benign Het
Flrt3 T C 2: 140,502,327 (GRCm39) T434A probably damaging Het
Gm572 A G 4: 148,739,322 (GRCm39) D50G possibly damaging Het
Hecw1 C T 13: 14,490,749 (GRCm39) D748N probably damaging Het
Hivep3 A C 4: 119,953,286 (GRCm39) H534P possibly damaging Het
Hspa4l C A 3: 40,721,241 (GRCm39) probably null Het
Ipo7 T C 7: 109,628,919 (GRCm39) M63T possibly damaging Het
Ipo7 A T 7: 109,647,423 (GRCm39) T614S possibly damaging Het
Krt87 T G 15: 101,385,395 (GRCm39) M326L probably benign Het
Mbd5 T A 2: 49,162,978 (GRCm39) N261K probably damaging Het
Mcam T A 9: 44,045,994 (GRCm39) L3Q probably damaging Het
Mcoln3 C A 3: 145,846,247 (GRCm39) T519K possibly damaging Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Mrgprx1 C A 7: 47,670,941 (GRCm39) A269S probably damaging Het
Mypn T C 10: 63,028,487 (GRCm39) E192G probably benign Het
Nup205 C A 6: 35,168,962 (GRCm39) P397Q probably benign Het
Obsl1 A C 1: 75,464,693 (GRCm39) L1576R possibly damaging Het
Ofcc1 A G 13: 40,168,937 (GRCm39) S817P probably benign Het
Or6c210 A T 10: 129,496,400 (GRCm39) M242L probably benign Het
Or8b12c A T 9: 37,715,486 (GRCm39) H93L probably benign Het
Pcdhgb7 A G 18: 37,887,125 (GRCm39) Y765C possibly damaging Het
Pde7a A G 3: 19,365,026 (GRCm39) probably null Het
Phip C T 9: 82,782,922 (GRCm39) probably benign Het
Rhbdl2 T A 4: 123,703,728 (GRCm39) M1K probably null Het
Ripor2 C T 13: 24,905,694 (GRCm39) P947S probably benign Het
Sf3a3 A G 4: 124,618,932 (GRCm39) T298A probably benign Het
Spinkl T G 18: 44,307,650 (GRCm39) T4P possibly damaging Het
Stk33 G A 7: 108,879,002 (GRCm39) S449L probably benign Het
Suz12 T A 11: 79,892,988 (GRCm39) probably benign Het
Timp2 T A 11: 118,201,497 (GRCm39) I124F probably damaging Het
Tlr1 C T 5: 65,083,180 (GRCm39) D466N probably benign Het
Tmem200b A G 4: 131,649,781 (GRCm39) I234V possibly damaging Het
Ubr1 C A 2: 120,801,084 (GRCm39) probably benign Het
Usp33 C A 3: 152,074,149 (GRCm39) Q332K probably benign Het
Zfr A G 15: 12,156,416 (GRCm39) E634G probably damaging 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
R2276:Slc25a29 UTSW 12 108,792,852 (GRCm39) missense probably benign 0.09
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
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'- GTGACACAAACGCTTGGCTG -3'
(R):5'- GTTACCAGAGGGGACATTACAG -3'

Sequencing Primer
(F):5'- ACAAACGCTTGGCTGTGGAC -3'
(R):5'- CATTACAGGAATCCCTAGGATGGGC -3'
Posted On 2015-07-06