Incidental Mutation 'R7807:Slc25a13'
ID 600856
Institutional Source Beutler Lab
Gene Symbol Slc25a13
Ensembl Gene ENSMUSG00000015112
Gene Name solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 13
Synonyms Ctrn, citrin
MMRRC Submission 045862-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.359) question?
Stock # R7807 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 6041218-6217173 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 6117164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 184 (R184W)
Ref Sequence ENSEMBL: ENSMUSP00000015256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015256] [ENSMUST00000188414]
AlphaFold Q9QXX4
Predicted Effect probably damaging
Transcript: ENSMUST00000015256
AA Change: R184W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000015256
Gene: ENSMUSG00000015112
AA Change: R184W

DomainStartEndE-ValueType
EFh 57 85 5.75e1 SMART
EFh 91 119 6.14e-1 SMART
EFh 162 190 7.87e1 SMART
Pfam:Mito_carr 327 424 5.2e-27 PFAM
Pfam:Mito_carr 425 516 1.2e-17 PFAM
Pfam:Mito_carr 517 612 1.3e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000188414
AA Change: R184W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139571
Gene: ENSMUSG00000015112
AA Change: R184W

DomainStartEndE-ValueType
EFh 57 85 5.75e1 SMART
EFh 91 119 6.14e-1 SMART
EFh 162 190 7.87e1 SMART
Pfam:Mito_carr 327 424 2.6e-26 PFAM
Pfam:Mito_carr 425 516 4.4e-19 PFAM
Pfam:Mito_carr 517 612 1.4e-29 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (68/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene appear normal, healthy and fertile, although they have a number of metabolic defects, but the spontaneous hyperspin deletion spanning from intron 3 to exon 17 also eliminates a modifier of Dlx5 causing a recessive vestibular and mortality phenotype [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 C A 9: 21,447,276 (GRCm39) T146K probably benign Het
Alms1 T A 6: 85,599,958 (GRCm39) S1595T possibly damaging Het
Ankrd44 A T 1: 54,831,635 (GRCm39) I56N probably damaging Het
Anln C A 9: 22,272,176 (GRCm39) V648F probably damaging Het
Arhgap29 A G 3: 121,807,981 (GRCm39) D1053G probably benign Het
Baalc T C 15: 38,797,412 (GRCm39) S68P probably benign Het
Begain T C 12: 109,004,856 (GRCm39) D52G probably damaging Het
Blmh A G 11: 76,837,040 (GRCm39) I41V probably benign Het
Bpifc T A 10: 85,812,114 (GRCm39) I365F possibly damaging Het
C2 G T 17: 35,095,347 (GRCm39) S199R possibly damaging Het
Ccbe1 T A 18: 66,199,828 (GRCm39) H298L probably damaging Het
Ccdc112 T A 18: 46,423,826 (GRCm39) K304I probably damaging Het
Ccdc15 T C 9: 37,226,678 (GRCm39) E432G probably benign Het
Cdh13 T A 8: 119,010,594 (GRCm39) M1K probably null Het
Cipc T C 12: 87,008,899 (GRCm39) S253P possibly damaging Het
Clcn1 A G 6: 42,287,282 (GRCm39) probably null Het
Clock A T 5: 76,390,982 (GRCm39) N273K probably benign Het
Cyp19a1 T C 9: 54,074,126 (GRCm39) D476G probably benign Het
Dnaaf9 T C 2: 130,552,785 (GRCm39) K1092E probably damaging Het
Dnah7b A G 1: 46,253,527 (GRCm39) I1811V probably benign Het
Fat1 C A 8: 45,495,010 (GRCm39) T4091K probably damaging Het
Gm10340 T A 14: 14,826,724 (GRCm39) N64K probably damaging Het
Hectd1 G A 12: 51,792,171 (GRCm39) R2523C probably damaging Het
Hgf A G 5: 16,782,009 (GRCm39) H244R probably damaging Het
Hgs G T 11: 120,370,760 (GRCm39) A567S probably damaging Het
Igdcc4 T C 9: 65,041,077 (GRCm39) V1036A probably benign Het
Keg1 G A 19: 12,691,998 (GRCm39) probably null Het
Klhl8 A T 5: 104,023,932 (GRCm39) L156Q probably damaging Het
Lmln T C 16: 32,927,501 (GRCm39) Y521H probably benign Het
Lrrc7 A G 3: 157,866,124 (GRCm39) S1206P probably damaging Het
Mad1l1 T A 5: 140,074,541 (GRCm39) I550F probably benign Het
Marf1 C T 16: 13,971,753 (GRCm39) W28* probably null Het
Mfsd11 T G 11: 116,754,733 (GRCm39) S215A probably benign Het
Mpped2 C A 2: 106,575,085 (GRCm39) H57N possibly damaging Het
Mslnl A G 17: 25,965,751 (GRCm39) M542V probably benign Het
Myh6 G T 14: 55,179,897 (GRCm39) H1903Q probably damaging Het
Neo1 T C 9: 58,897,777 (GRCm39) T60A probably benign Het
Npm2 T A 14: 70,889,947 (GRCm39) probably null Het
Or5b123 C A 19: 13,597,285 (GRCm39) T210K probably damaging Het
Or5d20-ps1 T C 2: 87,931,909 (GRCm39) S141G probably benign Het
Or7a39 T A 10: 78,715,043 (GRCm39) S12R probably benign Het
Pax9 A T 12: 56,743,850 (GRCm39) I166F possibly damaging Het
Pcsk9 A G 4: 106,321,092 (GRCm39) S6P possibly damaging Het
Pikfyve A G 1: 65,309,101 (GRCm39) Y1893C probably damaging Het
Pirb T C 7: 3,722,864 (GRCm39) T43A possibly damaging Het
Pou3f1 A G 4: 124,552,074 (GRCm39) D192G possibly damaging Het
Pus3 C G 9: 35,478,021 (GRCm39) R418G probably damaging Het
Rexo1 C T 10: 80,385,970 (GRCm39) V363I probably benign Het
Sdcbp A G 4: 6,393,688 (GRCm39) T269A probably damaging Het
Sele T C 1: 163,881,462 (GRCm39) V523A probably benign Het
Serpinb8 T A 1: 107,532,457 (GRCm39) M183K probably damaging Het
Sh2d4a T G 8: 68,735,033 (GRCm39) S51A probably benign Het
Siglec15 A G 18: 78,090,696 (GRCm39) S201P probably damaging Het
Slc10a5 C T 3: 10,400,529 (GRCm39) V44I probably benign Het
Slc16a13 A G 11: 70,111,388 (GRCm39) V39A probably damaging Het
Slc35f5 T A 1: 125,512,278 (GRCm39) D359E probably damaging Het
Slc3a1 A G 17: 85,371,371 (GRCm39) E641G probably benign Het
Slf1 T C 13: 77,194,823 (GRCm39) D834G probably damaging Het
Spata31f1e A C 4: 42,793,885 (GRCm39) H82Q probably benign Het
Stim1 T C 7: 102,076,348 (GRCm39) I433T probably damaging Het
Stra6 T A 9: 58,057,444 (GRCm39) I418K probably damaging Het
Tanc2 A G 11: 105,758,480 (GRCm39) N747S probably benign Het
Tet2 T C 3: 133,192,302 (GRCm39) T711A possibly damaging Het
Trpm6 T C 19: 18,807,220 (GRCm39) I988T probably benign Het
Ttc41 T A 10: 86,612,495 (GRCm39) I1256N probably benign Het
Uba2 T C 7: 33,862,638 (GRCm39) D100G possibly damaging Het
Vmn1r43 A G 6: 89,847,219 (GRCm39) I89T probably benign Het
Vmn2r58 T A 7: 41,521,910 (GRCm39) Y62F probably benign Het
Ylpm1 C T 12: 85,060,855 (GRCm39) Q428* probably null Het
Zcrb1 T C 15: 93,289,002 (GRCm39) D88G probably damaging Het
Zmym1 A C 4: 126,941,667 (GRCm39) I907S probably damaging Het
Other mutations in Slc25a13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01333:Slc25a13 APN 6 6,042,739 (GRCm39) critical splice donor site probably null
IGL02237:Slc25a13 APN 6 6,042,646 (GRCm39) missense probably damaging 1.00
IGL02285:Slc25a13 APN 6 6,042,643 (GRCm39) missense possibly damaging 0.95
IGL02287:Slc25a13 APN 6 6,216,992 (GRCm39) splice site probably benign
IGL02593:Slc25a13 APN 6 6,042,265 (GRCm39) missense probably benign 0.00
R0028:Slc25a13 UTSW 6 6,181,047 (GRCm39) missense probably benign 0.10
R0045:Slc25a13 UTSW 6 6,109,277 (GRCm39) missense probably benign 0.05
R0384:Slc25a13 UTSW 6 6,042,600 (GRCm39) nonsense probably null
R0711:Slc25a13 UTSW 6 6,117,128 (GRCm39) missense probably damaging 0.99
R1299:Slc25a13 UTSW 6 6,113,937 (GRCm39) critical splice donor site probably null
R1625:Slc25a13 UTSW 6 6,096,675 (GRCm39) missense probably damaging 1.00
R1701:Slc25a13 UTSW 6 6,152,525 (GRCm39) critical splice acceptor site probably null
R1792:Slc25a13 UTSW 6 6,115,104 (GRCm39) missense possibly damaging 0.79
R1932:Slc25a13 UTSW 6 6,042,264 (GRCm39) missense probably benign 0.33
R1933:Slc25a13 UTSW 6 6,109,262 (GRCm39) missense probably damaging 1.00
R1952:Slc25a13 UTSW 6 6,152,482 (GRCm39) missense probably damaging 1.00
R1969:Slc25a13 UTSW 6 6,096,668 (GRCm39) critical splice donor site probably null
R2027:Slc25a13 UTSW 6 6,073,487 (GRCm39) missense probably damaging 1.00
R2074:Slc25a13 UTSW 6 6,114,017 (GRCm39) missense probably benign 0.21
R2432:Slc25a13 UTSW 6 6,114,017 (GRCm39) missense probably benign 0.21
R2508:Slc25a13 UTSW 6 6,117,190 (GRCm39) missense probably benign 0.06
R3774:Slc25a13 UTSW 6 6,109,288 (GRCm39) missense probably damaging 1.00
R3775:Slc25a13 UTSW 6 6,109,288 (GRCm39) missense probably damaging 1.00
R4804:Slc25a13 UTSW 6 6,109,213 (GRCm39) missense probably damaging 1.00
R4816:Slc25a13 UTSW 6 6,114,274 (GRCm39) missense possibly damaging 0.71
R4978:Slc25a13 UTSW 6 6,042,300 (GRCm39) missense probably damaging 0.97
R6529:Slc25a13 UTSW 6 6,073,451 (GRCm39) missense probably benign 0.39
R6615:Slc25a13 UTSW 6 6,073,454 (GRCm39) missense probably damaging 1.00
R6709:Slc25a13 UTSW 6 6,073,440 (GRCm39) missense possibly damaging 0.88
R7346:Slc25a13 UTSW 6 6,181,100 (GRCm39) missense possibly damaging 0.67
R7571:Slc25a13 UTSW 6 6,052,785 (GRCm39) missense probably damaging 1.00
R7852:Slc25a13 UTSW 6 6,152,461 (GRCm39) missense probably damaging 0.96
R8460:Slc25a13 UTSW 6 6,073,513 (GRCm39) missense probably damaging 1.00
R8710:Slc25a13 UTSW 6 6,114,238 (GRCm39) missense probably benign 0.21
R9128:Slc25a13 UTSW 6 6,109,987 (GRCm39) missense probably null 0.99
Predicted Primers PCR Primer
(F):5'- GCAAGGGTGATAATATACATGATCACG -3'
(R):5'- CGCATTTAAACAGGCAGGTGG -3'

Sequencing Primer
(F):5'- GTTAGGGTGTTAAACAAGGACTGCTC -3'
(R):5'- TGGGGCCTGTGAAATCAC -3'
Posted On 2019-11-26