Incidental Mutation 'R1933:Slc25a13'
ID 215552
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 039951-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.359) question?
Stock # R1933 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 6041218-6217173 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 6109262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 367 (V367M)
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: V367M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015256
Gene: ENSMUSG00000015112
AA Change: V367M

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: V367M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139571
Gene: ENSMUSG00000015112
AA Change: V367M

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: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.4%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A T 8: 41,207,922 (GRCm39) Y396F probably benign Het
Adra2a T A 19: 54,034,837 (GRCm39) F64L probably damaging Het
Ankrd45 A T 1: 160,978,870 (GRCm39) N103I probably damaging Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Bsn A G 9: 107,993,643 (GRCm39) V703A possibly damaging Het
Btaf1 T A 19: 36,950,357 (GRCm39) I529K probably damaging Het
Ccdc110 A G 8: 46,396,287 (GRCm39) N726S probably damaging Het
Ccdc78 T A 17: 26,006,044 (GRCm39) S71T probably damaging Het
Cct5 G T 15: 31,591,154 (GRCm39) Q516K probably benign Het
Cd300c2 A T 11: 114,891,685 (GRCm39) V63E probably benign Het
Cdh16 A G 8: 105,344,595 (GRCm39) V7A possibly damaging Het
Clec16a T C 16: 10,506,403 (GRCm39) F710L probably damaging Het
Clpb T G 7: 101,428,418 (GRCm39) F393V probably damaging Het
Commd9 G A 2: 101,731,376 (GRCm39) R187H probably damaging Het
Crx T A 7: 15,602,301 (GRCm39) K126* probably null Het
Dcaf13 T A 15: 39,001,483 (GRCm39) Y264N probably damaging Het
Dnah12 T A 14: 26,455,650 (GRCm39) I791N probably damaging Het
Dpy19l1 A T 9: 24,345,683 (GRCm39) D456E probably damaging Het
Dscam A G 16: 96,394,414 (GRCm39) S1963P probably benign Het
Efl1 C T 7: 82,412,325 (GRCm39) Q905* probably null Het
Farsa T C 8: 85,587,780 (GRCm39) F104L probably benign Het
Fbxl19 C A 7: 127,350,101 (GRCm39) A231E probably benign Het
Fbxw19 A T 9: 109,310,718 (GRCm39) N401K probably benign Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,052,926 (GRCm39) probably benign Het
Frem3 A G 8: 81,339,519 (GRCm39) N604S probably benign Het
Gad1 T G 2: 70,417,736 (GRCm39) C312G possibly damaging Het
Garem2 G T 5: 30,319,860 (GRCm39) E441* probably null Het
Glra3 G T 8: 56,393,942 (GRCm39) A18S probably benign Het
Gm8206 A T 14: 6,022,475 (GRCm38) M8K probably benign Het
Gpr162 G A 6: 124,838,410 (GRCm39) S80F probably damaging Het
Grpr C A X: 162,332,137 (GRCm39) V53L probably benign Het
Il21 C T 3: 37,286,635 (GRCm39) R27H probably benign Het
Il21r C T 7: 125,228,153 (GRCm39) T208I possibly damaging Het
Kcnab2 T C 4: 152,520,323 (GRCm39) T6A possibly damaging Het
Klra4 T A 6: 130,042,207 (GRCm39) Q20L possibly damaging Het
Lrrtm1 A T 6: 77,221,949 (GRCm39) probably null Het
Lrrtm3 A G 10: 63,924,292 (GRCm39) F292L possibly damaging Het
Mpeg1 A T 19: 12,440,011 (GRCm39) K490* probably null Het
Myh14 C T 7: 44,264,772 (GRCm39) M1671I probably benign Het
Nebl A T 2: 17,380,103 (GRCm39) M757K probably damaging Het
Or51m1 G T 7: 103,578,337 (GRCm39) M102I probably damaging Het
Or56b1b A C 7: 108,164,730 (GRCm39) F91V possibly damaging Het
Or5aq1 T A 2: 86,966,188 (GRCm39) H159L probably damaging Het
Pkhd1l1 A T 15: 44,404,280 (GRCm39) H2303L possibly damaging Het
Podxl2 C T 6: 88,826,587 (GRCm39) V240M probably benign Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Prss53 T C 7: 127,485,434 (GRCm39) *553W probably null Het
Psma3 T A 12: 71,031,468 (GRCm39) M43K probably benign Het
Rad50 G T 11: 53,570,888 (GRCm39) T790K probably benign Het
Rasgrf1 G T 9: 89,835,966 (GRCm39) Q231H probably damaging Het
Rpn1 T A 6: 88,070,841 (GRCm39) V237E probably damaging Het
Scn10a T A 9: 119,439,064 (GRCm39) M1601L probably damaging Het
Sema4f G T 6: 82,907,908 (GRCm39) P180Q probably damaging Het
Serpinb5 A G 1: 106,803,851 (GRCm39) E8G probably damaging Het
Sgcg C T 14: 61,469,861 (GRCm39) V167I possibly damaging Het
Spata31 T C 13: 65,068,424 (GRCm39) S191P probably benign Het
Srbd1 A G 17: 86,410,321 (GRCm39) V537A probably damaging Het
Srgap1 G T 10: 121,761,808 (GRCm39) D113E possibly damaging Het
Srl A G 16: 4,310,214 (GRCm39) I505T probably damaging Het
St14 G A 9: 31,017,508 (GRCm39) T226I probably benign Het
Stard9 T A 2: 120,529,137 (GRCm39) I1798N possibly damaging Het
Sugp1 A G 8: 70,509,225 (GRCm39) E166G possibly damaging Het
Susd1 A T 4: 59,351,695 (GRCm39) N455K possibly damaging Het
Sytl3 T A 17: 7,000,445 (GRCm39) V205E probably damaging Het
Tenm4 A G 7: 96,544,533 (GRCm39) Y2183C probably damaging Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tlcd3b T A 7: 126,426,844 (GRCm39) probably null Het
Tlr1 T G 5: 65,082,781 (GRCm39) T599P possibly damaging Het
Trpc6 G A 9: 8,656,546 (GRCm39) D658N probably damaging Het
Ttc39b A G 4: 83,150,957 (GRCm39) V546A possibly damaging Het
Ube3c T C 5: 29,824,657 (GRCm39) Y561H probably damaging Het
Vmn1r29 T A 6: 58,284,405 (GRCm39) S42T probably benign Het
Vps4a T C 8: 107,771,190 (GRCm39) V392A probably benign Het
Wdfy4 T C 14: 32,855,301 (GRCm39) E771G probably benign Het
Whrn G A 4: 63,333,876 (GRCm39) Q415* probably null Het
Wnt5a C T 14: 28,233,802 (GRCm39) P10L probably benign Het
Zfhx2 T C 14: 55,312,695 (GRCm39) probably benign Het
Zfp451 T C 1: 33,816,903 (GRCm39) K132R 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
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'- TCATTTCAGGCTCTGAGATGGG -3'
(R):5'- CAAAGGTAGTTTGGTAGATCTATGC -3'

Sequencing Primer
(F):5'- GGGAAAGCAAACCCTTGGCTC -3'
(R):5'- AAAATACTTCTGCCGGGCGTG -3'
Posted On 2014-07-14