Incidental Mutation 'R2094:Slc25a29'
ID 231987
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 040098-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2094 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 108791804-108801802 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108793358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 73 (N73K)
Ref Sequence ENSEMBL: ENSMUSP00000021693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021693]
AlphaFold Q8BL03
Predicted Effect probably damaging
Transcript: ENSMUST00000021693
AA Change: N73K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021693
Gene: ENSMUSG00000021265
AA Change: N73K

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (56/56)
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
A130010J15Rik A G 1: 192,857,154 (GRCm39) I169V probably benign Het
Arrdc5 A G 17: 56,604,856 (GRCm39) S144P probably benign Het
Astn1 A G 1: 158,495,179 (GRCm39) M92V probably benign Het
Atg5 A G 10: 44,195,544 (GRCm39) I189M probably damaging Het
Atmin A G 8: 117,684,277 (GRCm39) T646A probably damaging Het
Atp1a2 G A 1: 172,115,000 (GRCm39) R262W probably damaging Het
Atp6v1g2 A G 17: 35,455,785 (GRCm39) K16E probably damaging Het
Bex6 G A 16: 32,005,278 (GRCm39) E29K possibly damaging Het
Casd1 A G 6: 4,608,705 (GRCm39) Y101C probably damaging Het
Ccdc168 A C 1: 44,098,890 (GRCm39) I736S probably benign Het
Cdx1 T C 18: 61,168,984 (GRCm39) D70G possibly damaging Het
Cebpz T C 17: 79,242,983 (GRCm39) T224A probably benign Het
Cep170b T C 12: 112,702,164 (GRCm39) V319A possibly damaging Het
Chrna2 C T 14: 66,386,912 (GRCm39) R353W possibly damaging Het
Chst5 A T 8: 112,617,176 (GRCm39) V148E probably benign Het
Clhc1 T A 11: 29,507,771 (GRCm39) W162R probably benign Het
Csmd1 T A 8: 16,129,992 (GRCm39) Q1710L probably damaging Het
Ddb1 A C 19: 10,590,300 (GRCm39) M276L probably benign Het
Dot1l C T 10: 80,621,712 (GRCm39) R455C probably damaging Het
Dync2h1 A G 9: 7,148,735 (GRCm39) V903A probably benign Het
Eno1b T C 18: 48,180,542 (GRCm39) V240A possibly damaging Het
Erich1 T G 8: 14,140,527 (GRCm39) probably benign Het
Ermp1 A C 19: 29,617,328 (GRCm39) S227A probably benign Het
Etv1 C A 12: 38,885,115 (GRCm39) P143Q probably null Het
Gimap8 A T 6: 48,627,502 (GRCm39) I159F probably benign Het
Gpr4 G A 7: 18,956,503 (GRCm39) V142M possibly damaging Het
Gucy1a1 C T 3: 82,020,639 (GRCm39) C86Y probably benign Het
Ifngr2 T G 16: 91,358,667 (GRCm39) probably null Het
Insrr A T 3: 87,710,488 (GRCm39) N398I probably damaging Het
Iws1 A G 18: 32,217,719 (GRCm39) E441G probably damaging Het
Larp7-ps A G 4: 92,079,893 (GRCm39) S32P probably damaging Het
Megf10 A T 18: 57,414,785 (GRCm39) K732* probably null Het
Mprip T A 11: 59,640,334 (GRCm39) probably benign Het
Mrgprb8 T C 7: 48,038,953 (GRCm39) V208A probably benign Het
Msc G C 1: 14,825,908 (GRCm39) P22R probably benign Het
Opcml G A 9: 28,812,886 (GRCm39) E193K probably damaging Het
Or4k15b A T 14: 50,272,171 (GRCm39) S230T probably damaging Het
Oxsr1 A C 9: 119,123,560 (GRCm39) H71Q probably benign Het
Pkp2 T A 16: 16,064,831 (GRCm39) W452R probably damaging Het
Prrc2b C T 2: 32,072,582 (GRCm39) T20I probably damaging Het
Rasgrp3 T C 17: 75,810,136 (GRCm39) S279P probably damaging Het
Rtl1 T A 12: 109,557,831 (GRCm39) D1336V unknown Het
Serpina3m G T 12: 104,355,529 (GRCm39) K65N probably benign Het
Serpine2 A G 1: 79,788,411 (GRCm39) V182A probably damaging Het
Slc10a1 A G 12: 81,002,822 (GRCm39) V272A possibly damaging Het
Slit1 G A 19: 41,594,819 (GRCm39) R1184W probably damaging Het
Srrm2 T C 17: 24,031,403 (GRCm39) probably benign Het
Stk11ip A G 1: 75,502,165 (GRCm39) probably benign Het
Tcerg1 A G 18: 42,697,210 (GRCm39) K767R possibly damaging Het
Tmem82 T C 4: 141,343,598 (GRCm39) K224R probably benign Het
Tmprss11g A G 5: 86,647,415 (GRCm39) L41S probably damaging Het
Trim42 T C 9: 97,248,150 (GRCm39) N182S probably benign Het
Ttn T C 2: 76,660,432 (GRCm39) T7430A probably benign Het
Wwp1 T C 4: 19,650,390 (GRCm39) T259A probably benign 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
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
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'- ACACCATGCCTCGATTGATGC -3'
(R):5'- AAAAGGCTATCGGGGCATCC -3'

Sequencing Primer
(F):5'- TGCCGGTAAATCTGCACCAG -3'
(R):5'- CCTAAGAGGGCACGGCTG -3'
Posted On 2014-09-18