Incidental Mutation 'R0711:Slc25a13'
ID 62730
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 038894-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.359) question?
Stock # R0711 (G1)
Quality Score 195
Status Validated
Chromosome 6
Chromosomal Location 6041218-6217173 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6117128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 196 (T196A)
Ref Sequence ENSEMBL: ENSMUSP00000139571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015256] [ENSMUST00000188414]
AlphaFold Q9QXX4
Predicted Effect probably damaging
Transcript: ENSMUST00000015256
AA Change: T196A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000015256
Gene: ENSMUSG00000015112
AA Change: T196A

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: T196A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139571
Gene: ENSMUSG00000015112
AA Change: T196A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203990
Meta Mutation Damage Score 0.2046 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 91.4%
Validation Efficiency 100% (91/91)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,773,986 (GRCm39) D1058E probably damaging Het
4933405L10Rik A T 8: 106,435,563 (GRCm39) probably null Het
Adamtsl3 T A 7: 82,114,907 (GRCm39) probably benign Het
Afdn C T 17: 14,072,698 (GRCm39) P874S probably damaging Het
Ankrd6 G A 4: 32,815,326 (GRCm39) A391V probably damaging Het
Arhgef28 T G 13: 98,067,762 (GRCm39) T1388P probably damaging Het
Asxl3 G T 18: 22,657,508 (GRCm39) M1839I probably benign Het
BC005537 T C 13: 24,989,923 (GRCm39) F129L probably damaging Het
Celf2 A G 2: 6,726,226 (GRCm39) probably null Het
Chid1 C T 7: 141,076,590 (GRCm39) V325I probably benign Het
Cnn3 T A 3: 121,243,633 (GRCm39) D31E probably benign Het
Col12a1 G A 9: 79,559,317 (GRCm39) P1857L probably damaging Het
Cpeb1 T A 7: 81,001,618 (GRCm39) R430W probably benign Het
Daw1 T C 1: 83,169,059 (GRCm39) probably benign Het
Dcaf13 A G 15: 39,001,484 (GRCm39) Y264C probably damaging Het
Dnah6 T C 6: 73,064,585 (GRCm39) I2666V probably damaging Het
Dnai2 A C 11: 114,645,158 (GRCm39) D531A probably benign Het
Dock10 A T 1: 80,501,692 (GRCm39) F1833I probably damaging Het
Efhd2 C T 4: 141,587,183 (GRCm39) A200T probably damaging Het
Epb41l5 T A 1: 119,551,641 (GRCm39) probably benign Het
Ermp1 A G 19: 29,608,788 (GRCm39) Y164H possibly damaging Het
Gkn2 T C 6: 87,350,401 (GRCm39) probably benign Het
Golgb1 A T 16: 36,739,152 (GRCm39) Q2497L probably damaging Het
Gzme A T 14: 56,355,196 (GRCm39) M245K probably damaging Het
Iars2 A T 1: 185,054,585 (GRCm39) probably benign Het
Icosl T A 10: 77,909,775 (GRCm39) V240D probably damaging Het
Igsf3 T C 3: 101,334,709 (GRCm39) M262T probably benign Het
Ing3 G T 6: 21,971,236 (GRCm39) E336* probably null Het
Kat2a A T 11: 100,597,297 (GRCm39) V625E probably damaging Het
Ksr1 A G 11: 78,929,073 (GRCm39) probably benign Het
Lypd8 A T 11: 58,277,583 (GRCm39) M122L probably benign Het
Mdfi A T 17: 48,143,855 (GRCm39) probably benign Het
Med13 A G 11: 86,192,179 (GRCm39) probably benign Het
Msh6 C T 17: 88,294,112 (GRCm39) R956C probably damaging Het
Myo15b A G 11: 115,774,664 (GRCm39) E670G probably damaging Het
Myo1d A G 11: 80,375,158 (GRCm39) L972P probably damaging Het
Or4s2b A G 2: 88,509,018 (GRCm39) D266G probably damaging Het
Or51ai2 G A 7: 103,587,024 (GRCm39) A146T probably benign Het
Or7g12 T A 9: 18,899,447 (GRCm39) N54K probably benign Het
Pde8b C G 13: 95,244,325 (GRCm39) S143T possibly damaging Het
Pias4 G T 10: 80,993,364 (GRCm39) probably benign Het
Prkca A G 11: 107,872,480 (GRCm39) Y427H probably benign Het
Psg25 G A 7: 18,263,485 (GRCm39) Q113* probably null Het
Rab3gap2 T A 1: 184,982,123 (GRCm39) S392T probably damaging Het
Scrib A G 15: 75,938,756 (GRCm39) probably benign Het
Sdk2 A G 11: 113,793,970 (GRCm39) probably benign Het
Serpinb1c T A 13: 33,070,266 (GRCm39) probably benign Het
Serpinb9f T A 13: 33,511,904 (GRCm39) W136R probably damaging Het
Skic3 C T 13: 76,331,010 (GRCm39) P1480L probably damaging Het
Skint10 C A 4: 112,573,102 (GRCm39) probably benign Het
Slc26a5 T C 5: 22,052,230 (GRCm39) H33R probably damaging Het
Slc27a6 T C 18: 58,731,829 (GRCm39) probably benign Het
Slitrk6 A T 14: 110,987,251 (GRCm39) Y819N probably damaging Het
Spata46 C T 1: 170,139,603 (GRCm39) Q201* probably null Het
Sptbn1 A T 11: 30,064,739 (GRCm39) V1920E probably damaging Het
Taf6l A G 19: 8,755,881 (GRCm39) F256L probably benign Het
Tmco3 T A 8: 13,342,039 (GRCm39) N104K probably damaging Het
Tmem200c A G 17: 69,149,249 (GRCm39) T611A probably damaging Het
Tmem202 T G 9: 59,432,655 (GRCm39) Y24S probably damaging Het
Tpp1 A G 7: 105,398,626 (GRCm39) L230P probably damaging Het
Trim56 C T 5: 137,141,846 (GRCm39) E557K probably benign Het
Trrap C T 5: 144,790,309 (GRCm39) L3590F probably damaging Het
Tulp4 A G 17: 6,189,387 (GRCm39) T70A possibly damaging Het
Vcp G C 4: 42,986,201 (GRCm39) A297G probably benign Het
Vwf T A 6: 125,603,234 (GRCm39) H861Q probably benign Het
Wdr64 T C 1: 175,599,751 (GRCm39) I536T probably benign Het
Zfp850 T C 7: 27,689,698 (GRCm39) N170S probably benign Het
Zfp87 G A 13: 74,524,544 (GRCm39) probably benign 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
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
R7807:Slc25a13 UTSW 6 6,117,164 (GRCm39) missense probably damaging 0.99
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'- TGTGACTCCAACCAGACAGCCAA -3'
(R):5'- AGCAGTCATTTGCAGTAAGAAAGAGACA -3'

Sequencing Primer
(F):5'- accagcacagcaaaacaaag -3'
(R):5'- TGCAACGAGACAATGCCA -3'
Posted On 2013-07-30