Incidental Mutation 'R2277:Slc25a29'
ID 242865
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 040276-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2277 (G1)
Quality Score 225
Status Not 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: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13d T C 19: 4,331,012 (GRCm39) H165R probably benign Het
Arhgap21 T C 2: 20,868,037 (GRCm39) I829V possibly damaging Het
Atxn1 T C 13: 45,710,544 (GRCm39) N796S probably damaging Het
Bdp1 C A 13: 100,197,838 (GRCm39) S849I probably benign Het
Bdp1 T A 13: 100,197,847 (GRCm39) E846V probably damaging Het
Cdh4 C A 2: 179,439,317 (GRCm39) H155N possibly damaging Het
Cela3a T C 4: 137,133,187 (GRCm39) I62V possibly damaging Het
Cr2 T C 1: 194,839,676 (GRCm39) R960G possibly damaging Het
Ddx42 T A 11: 106,133,765 (GRCm39) D580E probably damaging Het
Dnah17 T C 11: 117,987,387 (GRCm39) K1308E possibly damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Gh T C 11: 106,191,613 (GRCm39) E143G probably damaging Het
Hcn3 C A 3: 89,055,168 (GRCm39) R693L probably benign Het
Hdlbp G A 1: 93,335,900 (GRCm39) R1199* probably null Het
Hook2 C T 8: 85,729,560 (GRCm39) Q667* probably null Het
Ibtk T C 9: 85,585,204 (GRCm39) I1147V probably benign Het
Itpk1 T C 12: 102,536,519 (GRCm39) T376A probably benign Het
Lars1 C T 18: 42,368,567 (GRCm39) V425I probably benign Het
Lgi4 T G 7: 30,760,037 (GRCm39) L78V probably damaging Het
Madd A T 2: 90,974,028 (GRCm39) C1419S possibly damaging Het
Mamld1 ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA X: 70,162,421 (GRCm39) probably benign Het
Mpp2 T C 11: 101,955,127 (GRCm39) E166G probably damaging Het
Mrgprb5 A G 7: 47,818,579 (GRCm39) L52P probably damaging Het
Nlrp2 T C 7: 5,331,128 (GRCm39) T423A probably benign Het
Nphs1 T A 7: 30,166,989 (GRCm39) L732* probably null Het
Pcdhb10 T C 18: 37,545,677 (GRCm39) I251T possibly damaging Het
Plcg1 T A 2: 160,597,725 (GRCm39) M789K possibly damaging Het
Pom121l2 T C 13: 22,168,417 (GRCm39) I896T probably benign Het
Ptpn4 T C 1: 119,612,321 (GRCm39) D24G probably damaging Het
Rbm28 T C 6: 29,135,513 (GRCm39) probably null Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rhebl1 A T 15: 98,776,167 (GRCm39) D162E probably benign Het
Runx1t1 T C 4: 13,771,501 (GRCm39) V15A probably benign Het
Serpina10 T A 12: 103,593,002 (GRCm39) I291F probably benign Het
Slc23a2 A G 2: 131,933,179 (GRCm39) I93T possibly damaging Het
Sulf1 A C 1: 12,867,018 (GRCm39) R67S probably benign Het
Syne2 A G 12: 75,974,240 (GRCm39) E1146G possibly damaging Het
Tmem45a A T 16: 56,643,882 (GRCm39) L89Q probably damaging Het
Top3a A C 11: 60,636,700 (GRCm39) V655G possibly damaging Het
Ttc23l A G 15: 10,523,678 (GRCm39) I347T possibly 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
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'- TATGATGTAATGACCCGCGC -3'

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