Incidental Mutation 'IGL01333:Slc25a13'
ID74559
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a13
Ensembl Gene ENSMUSG00000015112
Gene Namesolute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 13
Synonymscitrin, Ctrn
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.374) question?
Stock #IGL01333
Quality Score
Status
Chromosome6
Chromosomal Location6041218-6217173 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 6042739 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015256] [ENSMUST00000188414]
Predicted Effect probably null
Transcript: ENSMUST00000015256
SMART Domains Protein: ENSMUSP00000015256
Gene: ENSMUSG00000015112

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 null
Transcript: ENSMUST00000188414
SMART Domains Protein: ENSMUSP00000139571
Gene: ENSMUSG00000015112

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
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 G T 7: 120,382,308 C995F probably damaging Het
Adamts7 G T 9: 90,186,979 G525C probably damaging Het
AI481877 T C 4: 59,047,870 N1250D possibly damaging Het
Akap1 T C 11: 88,845,605 E110G probably damaging Het
Ankrd7 A G 6: 18,879,346 H263R probably damaging Het
Cav3 T C 6: 112,459,927 probably null Het
Ccdc66 T C 14: 27,493,315 R423G possibly damaging Het
Cep76 C T 18: 67,640,117 R37Q probably benign Het
Chfr A G 5: 110,143,573 K86E possibly damaging Het
Eif2b3 T A 4: 117,070,690 S369T probably benign Het
Hgf A T 5: 16,576,941 R221* probably null Het
Hspg2 T C 4: 137,540,314 Y2078H probably damaging Het
Kif22 A C 7: 127,034,195 V55G probably damaging Het
Mme T C 3: 63,346,091 I452T probably damaging Het
Mrpl41 T C 2: 24,974,441 N73S probably benign Het
Mup6 T C 4: 60,005,529 F112S probably damaging Het
Nktr A G 9: 121,731,564 I125V possibly damaging Het
Nup205 T C 6: 35,241,063 F1784L probably benign Het
Nwd1 A G 8: 72,666,811 D275G possibly damaging Het
Olfr1423 G A 19: 12,035,941 T267I probably benign Het
Olfr187 T C 16: 59,035,906 Y277C probably damaging Het
Pde6c G A 19: 38,175,695 E666K probably benign Het
Pth2r A T 1: 65,388,725 D519V probably benign Het
Reln A T 5: 22,171,251 I169N probably damaging Het
Smg1 A G 7: 118,163,378 probably benign Het
Sp1 A G 15: 102,430,929 E434G probably damaging Het
Stt3b A T 9: 115,257,544 Y336N probably damaging Het
Vmn2r104 T A 17: 20,042,793 R135S probably benign Het
Zfhx4 C T 3: 5,399,327 T1515I probably damaging Het
Zfp280d A G 9: 72,335,114 probably benign Het
Other mutations in Slc25a13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02237:Slc25a13 APN 6 6042646 missense probably damaging 1.00
IGL02285:Slc25a13 APN 6 6042643 missense possibly damaging 0.95
IGL02287:Slc25a13 APN 6 6216992 splice site probably benign
IGL02593:Slc25a13 APN 6 6042265 missense probably benign 0.00
R0028:Slc25a13 UTSW 6 6181047 missense probably benign 0.10
R0045:Slc25a13 UTSW 6 6109277 missense probably benign 0.05
R0384:Slc25a13 UTSW 6 6042600 nonsense probably null
R0711:Slc25a13 UTSW 6 6117128 missense probably damaging 0.99
R1299:Slc25a13 UTSW 6 6113937 critical splice donor site probably null
R1625:Slc25a13 UTSW 6 6096675 missense probably damaging 1.00
R1701:Slc25a13 UTSW 6 6152525 critical splice acceptor site probably null
R1792:Slc25a13 UTSW 6 6115104 missense possibly damaging 0.79
R1932:Slc25a13 UTSW 6 6042264 missense probably benign 0.33
R1933:Slc25a13 UTSW 6 6109262 missense probably damaging 1.00
R1952:Slc25a13 UTSW 6 6152482 missense probably damaging 1.00
R1969:Slc25a13 UTSW 6 6096668 critical splice donor site probably null
R2027:Slc25a13 UTSW 6 6073487 missense probably damaging 1.00
R2074:Slc25a13 UTSW 6 6114017 missense probably benign 0.21
R2432:Slc25a13 UTSW 6 6114017 missense probably benign 0.21
R2508:Slc25a13 UTSW 6 6117190 missense probably benign 0.06
R3774:Slc25a13 UTSW 6 6109288 missense probably damaging 1.00
R3775:Slc25a13 UTSW 6 6109288 missense probably damaging 1.00
R4804:Slc25a13 UTSW 6 6109213 missense probably damaging 1.00
R4816:Slc25a13 UTSW 6 6114274 missense possibly damaging 0.71
R4978:Slc25a13 UTSW 6 6042300 missense probably damaging 0.97
R6529:Slc25a13 UTSW 6 6073451 missense probably benign 0.39
R6615:Slc25a13 UTSW 6 6073454 missense probably damaging 1.00
R6709:Slc25a13 UTSW 6 6073440 missense possibly damaging 0.88
Posted On2013-10-07