Incidental Mutation 'R4978:Slc25a13'
ID 384593
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 042573-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.359) question?
Stock # R4978 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 6041218-6217173 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 6042300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 626 (S626F)
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: S626F

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000015256
Gene: ENSMUSG00000015112
AA Change: S626F

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 noncoding transcript
Transcript: ENSMUST00000169197
AA Change: S489F
SMART Domains Protein: ENSMUSP00000142882
Gene: ENSMUSG00000015112
AA Change: S489F

DomainStartEndE-ValueType
SCOP:d1irja_ 8 66 5e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177805
AA Change: P421S
SMART Domains Protein: ENSMUSP00000143051
Gene: ENSMUSG00000015112
AA Change: P421S

DomainStartEndE-ValueType
SCOP:d1irja_ 8 66 5e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000188414
AA Change: S626F

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139571
Gene: ENSMUSG00000015112
AA Change: S626F

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
Meta Mutation Damage Score 0.1603 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 96% (70/73)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 G A 8: 56,324,436 (GRCm39) P673S probably damaging Het
Adam39 T C 8: 41,278,374 (GRCm39) I255T possibly damaging Het
Adgrg6 A G 10: 14,296,205 (GRCm39) F1093S probably damaging Het
Amer3 A G 1: 34,618,381 (GRCm39) probably benign Het
Avil A T 10: 126,854,265 (GRCm39) N744I probably benign Het
B430305J03Rik T C 3: 61,271,440 (GRCm39) probably benign Het
Caps2 A T 10: 112,018,399 (GRCm39) Q141L probably benign Het
Capza2 T A 6: 17,662,114 (GRCm39) D201E probably null Het
Ccdc7b T C 8: 129,836,688 (GRCm39) probably null Het
Clcn6 C T 4: 148,093,227 (GRCm39) V818I probably benign Het
Cpeb4 C T 11: 31,881,509 (GRCm39) H723Y probably null Het
Cspp1 T A 1: 10,153,742 (GRCm39) F384I possibly damaging Het
Cyp2c50 T G 19: 40,086,501 (GRCm39) V355G probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dpys A T 15: 39,690,332 (GRCm39) D340E possibly damaging Het
Dsp T A 13: 38,366,210 (GRCm39) L548Q probably damaging Het
Dyrk2 A T 10: 118,696,252 (GRCm39) D335E probably benign Het
Etaa1 T C 11: 17,896,581 (GRCm39) D512G probably damaging Het
Fam210b G C 2: 172,187,585 (GRCm39) A2P probably damaging Het
Fbxo9 G A 9: 77,993,168 (GRCm39) probably benign Het
Fh1 A T 1: 175,431,533 (GRCm39) M451K probably damaging Het
Flrt1 A G 19: 7,074,241 (GRCm39) L102P probably damaging Het
Gins2 A G 8: 121,315,550 (GRCm39) L40S possibly damaging Het
Gm5436 G A 12: 84,305,461 (GRCm39) noncoding transcript Het
Gm7298 T G 6: 121,710,076 (GRCm39) probably null Het
Gm7353 A G 7: 3,160,038 (GRCm39) noncoding transcript Het
Gramd1a T C 7: 30,832,213 (GRCm39) E608G possibly damaging Het
Hcls1 T C 16: 36,758,222 (GRCm39) W38R probably damaging Het
Ik C T 18: 36,880,468 (GRCm39) P51S possibly damaging Het
Irx1 A G 13: 72,111,604 (GRCm39) S2P possibly damaging Het
Kng2 T A 16: 22,806,666 (GRCm39) N511I probably damaging Het
Limk2 G T 11: 3,359,069 (GRCm39) probably benign Het
Map1a T G 2: 121,131,623 (GRCm39) V813G probably benign Het
Mast1 T C 8: 85,662,416 (GRCm39) T31A probably damaging Het
N4bp2 T C 5: 65,947,583 (GRCm39) F71S probably damaging Het
Neurod1 C T 2: 79,284,571 (GRCm39) G271R probably damaging Het
Or52x1 T C 7: 104,853,398 (GRCm39) I51V probably benign Het
Pcdhb22 A G 18: 37,651,654 (GRCm39) T41A probably benign Het
Pclo T A 5: 14,764,492 (GRCm39) S4322T probably benign Het
Pde9a T A 17: 31,692,197 (GRCm39) D497E probably benign Het
Plaa A G 4: 94,478,169 (GRCm39) S98P possibly damaging Het
Prl2c1 A G 13: 28,041,553 (GRCm39) T192A probably benign Het
Ptpn18 T C 1: 34,508,894 (GRCm39) probably benign Het
Rab27b C T 18: 70,127,585 (GRCm39) V68I probably benign Het
Reep5 A G 18: 34,506,349 (GRCm39) F9S probably damaging Het
Scaf11 T C 15: 96,313,798 (GRCm39) N1328D probably damaging Het
Smg1 A G 7: 117,753,470 (GRCm39) probably benign Het
Spock2 T A 10: 59,966,911 (GRCm39) F332I probably benign Het
Tep1 C T 14: 51,082,891 (GRCm39) R1039Q possibly damaging Het
Thap1 AGCAGCATCTGCTCG AG 8: 26,650,882 (GRCm39) probably null Het
Tradd T C 8: 105,985,900 (GRCm39) Q217R probably benign Het
Umodl1 T C 17: 31,205,055 (GRCm39) I550T probably benign Het
Vgll3 T A 16: 65,612,572 (GRCm39) Y18* probably null Het
Vmn1r49 G T 6: 90,049,872 (GRCm39) N43K probably benign Het
Vps50 A G 6: 3,517,808 (GRCm39) N82S probably benign Het
Vstm2a A G 11: 16,211,460 (GRCm39) D90G possibly damaging Het
Vwa3b A G 1: 37,154,752 (GRCm39) Y512C probably damaging Het
Wrnip1 A G 13: 33,000,295 (GRCm39) D434G probably damaging Het
Zan C T 5: 137,405,183 (GRCm39) probably benign Het
Zfp286 A G 11: 62,679,754 (GRCm39) probably null Het
Zkscan17 A G 11: 59,384,053 (GRCm39) V123A possibly damaging Het
Zkscan2 C G 7: 123,094,542 (GRCm39) A211P possibly damaging Het
Zswim4 C T 8: 84,953,296 (GRCm39) probably null 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
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'- GGTTCCAATCATTTTACAGGCAC -3'
(R):5'- TTCTCATTGAGAAGTGCAGGGG -3'

Sequencing Primer
(F):5'- TTTTACAGGCACATCCAGGTCAG -3'
(R):5'- TGACTGCCTCCTGTGACAACG -3'
Posted On 2016-05-10