Incidental Mutation 'R2094:Slc25a29'
ID231987
Institutional Source Beutler Lab
Gene Symbol Slc25a29
Ensembl Gene ENSMUSG00000021265
Gene Namesolute carrier family 25 (mitochondrial carrier, palmitoylcarnitine transporter), member 29
SynonymsCACL, mCACL, C030003J19Rik
MMRRC Submission 040098-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2094 (G1)
Quality Score225
Status Validated
Chromosome12
Chromosomal Location108825873-108835883 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 108827432 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 73 (N73K)
Ref Sequence ENSEMBL: ENSMUSP00000021693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021693]
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: 193,174,846 I169V probably benign Het
Arrdc5 A G 17: 56,297,856 S144P probably benign Het
Astn1 A G 1: 158,667,609 M92V probably benign Het
Atg5 A G 10: 44,319,548 I189M probably damaging Het
Atmin A G 8: 116,957,538 T646A probably damaging Het
Atp1a2 G A 1: 172,287,433 R262W probably damaging Het
Atp6v1g2 A G 17: 35,236,809 K16E probably damaging Het
Bex6 G A 16: 32,186,460 E29K possibly damaging Het
Casd1 A G 6: 4,608,705 Y101C probably damaging Het
Cdx1 T C 18: 61,035,912 D70G possibly damaging Het
Cebpz T C 17: 78,935,554 T224A probably benign Het
Cep170b T C 12: 112,735,730 V319A possibly damaging Het
Chrna2 C T 14: 66,149,463 R353W possibly damaging Het
Chst5 A T 8: 111,890,544 V148E probably benign Het
Clhc1 T A 11: 29,557,771 W162R probably benign Het
Csmd1 T A 8: 16,079,978 Q1710L probably damaging Het
Ddb1 A C 19: 10,612,936 M276L probably benign Het
Dot1l C T 10: 80,785,878 R455C probably damaging Het
Dync2h1 A G 9: 7,148,735 V903A probably benign Het
Eno1b T C 18: 48,047,475 V240A possibly damaging Het
Erich1 T G 8: 14,090,527 probably benign Het
Ermp1 A C 19: 29,639,928 S227A probably benign Het
Etv1 C A 12: 38,835,116 P143Q probably null Het
Gimap8 A T 6: 48,650,568 I159F probably benign Het
Gm12666 A G 4: 92,191,656 S32P probably damaging Het
Gm8251 A C 1: 44,059,730 I736S probably benign Het
Gpr4 G A 7: 19,222,578 V142M possibly damaging Het
Gucy1a1 C T 3: 82,113,332 C86Y probably benign Het
Ifngr2 T G 16: 91,561,779 probably null Het
Insrr A T 3: 87,803,181 N398I probably damaging Het
Iws1 A G 18: 32,084,666 E441G probably damaging Het
Megf10 A T 18: 57,281,713 K732* probably null Het
Mprip T A 11: 59,749,508 probably benign Het
Mrgprb8 T C 7: 48,389,205 V208A probably benign Het
Msc G C 1: 14,755,684 P22R probably benign Het
Olfr725 A T 14: 50,034,714 S230T probably damaging Het
Opcml G A 9: 28,901,590 E193K probably damaging Het
Oxsr1 A C 9: 119,294,494 H71Q probably benign Het
Pkp2 T A 16: 16,246,967 W452R probably damaging Het
Prrc2b C T 2: 32,182,570 T20I probably damaging Het
Rasgrp3 T C 17: 75,503,141 S279P probably damaging Het
Rtl1 T A 12: 109,591,397 D1336V unknown Het
Serpina3m G T 12: 104,389,270 K65N probably benign Het
Serpine2 A G 1: 79,810,694 V182A probably damaging Het
Slc10a1 A G 12: 80,956,048 V272A possibly damaging Het
Slit1 G A 19: 41,606,380 R1184W probably damaging Het
Srrm2 T C 17: 23,812,429 probably benign Het
Stk11ip A G 1: 75,525,521 probably benign Het
Tcerg1 A G 18: 42,564,145 K767R possibly damaging Het
Tmem82 T C 4: 141,616,287 K224R probably benign Het
Tmprss11g A G 5: 86,499,556 L41S probably damaging Het
Trim42 T C 9: 97,366,097 N182S probably benign Het
Ttn T C 2: 76,830,088 T7430A probably benign Het
Wwp1 T C 4: 19,650,390 T259A probably benign Het
Other mutations in Slc25a29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03287:Slc25a29 APN 12 108831209 missense possibly damaging 0.49
R0116:Slc25a29 UTSW 12 108827091 missense possibly damaging 0.94
R1876:Slc25a29 UTSW 12 108827711 missense probably damaging 0.98
R2233:Slc25a29 UTSW 12 108835661 missense possibly damaging 0.92
R2276:Slc25a29 UTSW 12 108826926 missense probably benign 0.09
R2277:Slc25a29 UTSW 12 108826926 missense probably benign 0.09
R2279:Slc25a29 UTSW 12 108826926 missense probably benign 0.09
R2383:Slc25a29 UTSW 12 108827008 missense probably damaging 1.00
R4366:Slc25a29 UTSW 12 108831171 intron probably benign
Predicted Primers PCR Primer
(F):5'- ACACCATGCCTCGATTGATGC -3'
(R):5'- AAAAGGCTATCGGGGCATCC -3'

Sequencing Primer
(F):5'- TGCCGGTAAATCTGCACCAG -3'
(R):5'- CCTAAGAGGGCACGGCTG -3'
Posted On2014-09-18