Incidental Mutation 'R7571:Slc25a13'
ID 585820
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 045711-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.359) question?
Stock # R7571 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 6041218-6217173 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6052785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 525 (L525P)
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: L525P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015256
Gene: ENSMUSG00000015112
AA Change: L525P

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: L525P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139571
Gene: ENSMUSG00000015112
AA Change: L525P

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: 99.8%
  • 20x: 99.4%
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: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,119,211 (GRCm39) N985I probably benign Het
Abi3bp T A 16: 56,451,345 (GRCm39) probably null Het
Acad12 A T 5: 121,745,257 (GRCm39) Y309* probably null Het
Acadsb G T 7: 131,045,283 (GRCm39) R405L probably damaging Het
Acan G A 7: 78,736,015 (GRCm39) V154M probably damaging Het
Adam22 G A 5: 8,132,160 (GRCm39) R894* probably null Het
Ahnak A T 19: 8,978,150 (GRCm39) K90* probably null Het
Ak4 T C 4: 101,317,739 (GRCm39) I103T probably benign Het
Ap4e1 C T 2: 126,861,256 (GRCm39) L132F probably damaging Het
Apol7b C T 15: 77,307,677 (GRCm39) V273I probably benign Het
Arhgef37 T A 18: 61,637,403 (GRCm39) I420F probably damaging Het
Atg13 C T 2: 91,510,687 (GRCm39) probably null Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Cabin1 A T 10: 75,482,500 (GRCm39) S2148T probably damaging Het
Cacna1i T C 15: 80,259,537 (GRCm39) V1269A probably damaging Het
Cdipt T C 7: 126,578,794 (GRCm39) I195T probably benign Het
Ces2b A T 8: 105,561,641 (GRCm39) H245L probably damaging Het
Cimip2c A T 5: 30,639,502 (GRCm39) E143V possibly damaging Het
Clstn1 T G 4: 149,730,744 (GRCm39) M825R probably benign Het
Cntn3 G A 6: 102,255,364 (GRCm39) T178I probably damaging Het
Col7a1 A G 9: 108,811,775 (GRCm39) M2789V probably null Het
Col9a2 A T 4: 120,896,981 (GRCm39) I24F unknown Het
Cpne2 T C 8: 95,278,408 (GRCm39) M134T probably benign Het
Cpt1b A G 15: 89,305,546 (GRCm39) probably null Het
Crocc T C 4: 140,773,360 (GRCm39) probably null Het
Cts8 T C 13: 61,395,981 (GRCm39) Y330C probably damaging Het
Cwc22 T C 2: 77,747,411 (GRCm39) D434G probably benign Het
Cyp3a13 T C 5: 137,897,125 (GRCm39) I396M possibly damaging Het
Ddr2 A T 1: 169,829,420 (GRCm39) I278N probably benign Het
Dnaaf5 A G 5: 139,155,963 (GRCm39) E548G possibly damaging Het
Dync2h1 A G 9: 7,002,623 (GRCm39) L3808P probably damaging Het
Faf2 T A 13: 54,798,027 (GRCm39) W209R probably damaging Het
Fbln2 A T 6: 91,245,557 (GRCm39) E992D probably damaging Het
Fdxacb1 T A 9: 50,683,093 (GRCm39) V352D probably damaging Het
Flg2 G T 3: 93,127,303 (GRCm39) G2072* probably null Het
Flii A T 11: 60,611,962 (GRCm39) L347Q probably damaging Het
Fndc3a A T 14: 72,827,336 (GRCm39) H116Q probably damaging Het
Fnta A T 8: 26,505,493 (GRCm39) M39K probably benign Het
Gabra4 A G 5: 71,729,335 (GRCm39) S482P probably benign Het
Gapdhs G A 7: 30,437,383 (GRCm39) P61S unknown Het
Gm10153 A T 7: 141,743,401 (GRCm39) C242* probably null Het
Gp1ba A G 11: 70,530,920 (GRCm39) I229V unknown Het
Grap2 T A 15: 80,527,905 (GRCm39) L117Q probably damaging Het
Grik5 A G 7: 24,713,310 (GRCm39) I766T possibly damaging Het
Hrh3 A T 2: 179,743,079 (GRCm39) I183N probably damaging Het
Htr5a C A 5: 28,047,893 (GRCm39) Y149* probably null Het
Ibtk T C 9: 85,604,353 (GRCm39) I527V probably benign Het
Il33 T A 19: 29,934,341 (GRCm39) S184R probably damaging Het
Kansl3 T A 1: 36,404,668 (GRCm39) Q94L possibly damaging Het
Katnip C T 7: 125,307,193 (GRCm39) probably benign Het
Kcnh6 A G 11: 105,908,242 (GRCm39) D286G probably benign Het
Kmt2e T A 5: 23,683,585 (GRCm39) M281K probably damaging Het
Lrp2 T A 2: 69,346,747 (GRCm39) H833L probably damaging Het
Meis1 A T 11: 18,891,702 (GRCm39) V282E probably damaging Het
Mfsd8 T G 3: 40,785,097 (GRCm39) D240A probably damaging Het
Muc5b A G 7: 141,400,986 (GRCm39) T534A unknown Het
Myo18b G A 5: 112,978,194 (GRCm39) L1243F probably damaging Het
Nefl A G 14: 68,322,123 (GRCm39) I238V probably benign Het
Nexn T A 3: 151,959,284 (GRCm39) I62F possibly damaging Het
Niban1 T C 1: 151,594,048 (GRCm39) V911A probably benign Het
Notch4 T C 17: 34,802,548 (GRCm39) L1323P probably damaging Het
Or51h1 T C 7: 102,308,258 (GRCm39) S77P probably damaging Het
Or5p68 A T 7: 107,945,689 (GRCm39) F166L probably benign Het
Or8b1 T C 9: 38,399,952 (GRCm39) V209A probably benign Het
Patj C A 4: 98,457,217 (GRCm39) H1244N probably damaging Het
Peg10 T A 6: 4,756,082 (GRCm39) D219E unknown Het
Pi4kb G T 3: 94,906,425 (GRCm39) probably null Het
Piezo1 A G 8: 123,225,157 (GRCm39) F614S Het
Pisd T A 5: 32,894,681 (GRCm39) N372Y probably damaging Het
Piwil4 T C 9: 14,645,893 (GRCm39) D178G probably benign Het
Plekho1 G T 3: 95,896,566 (GRCm39) P301Q probably damaging Het
Pop1 T A 15: 34,529,093 (GRCm39) W738R probably null Het
Ppp4r1 C T 17: 66,117,611 (GRCm39) P125L possibly damaging Het
Pramel48 A T 5: 95,630,819 (GRCm39) N232I probably damaging Het
Prdm9 T A 17: 15,783,526 (GRCm39) N13I probably damaging Het
Psd4 T G 2: 24,297,023 (GRCm39) V932G probably damaging Het
Ptger3 T C 3: 157,347,412 (GRCm39) S355P probably benign Het
Ptprb T C 10: 116,175,335 (GRCm39) V823A probably damaging Het
Ptprj C T 2: 90,285,530 (GRCm39) V841I probably benign Het
Ranbp3 T C 17: 57,014,923 (GRCm39) S281P probably benign Het
Rasal3 T A 17: 32,614,835 (GRCm39) M541L possibly damaging Het
Rassf1 A G 9: 107,428,982 (GRCm39) T63A possibly damaging Het
Rcor3 C A 1: 191,822,173 (GRCm39) G8V probably damaging Het
Rgs4 G A 1: 169,571,927 (GRCm39) T124I probably damaging Het
Rspo2 T A 15: 43,033,372 (GRCm39) probably benign Het
Scgn T C 13: 24,137,897 (GRCm39) D258G probably damaging Het
Shkbp1 A G 7: 27,046,556 (GRCm39) S403P possibly damaging Het
Snd1 G T 6: 28,526,202 (GRCm39) K193N possibly damaging Het
Sntg2 C T 12: 30,225,201 (GRCm39) A516T probably damaging Het
Stard13 A G 5: 150,982,967 (GRCm39) I699T probably damaging Het
Svil T A 18: 5,114,636 (GRCm39) V1984D probably damaging Het
Swt1 A G 1: 151,270,470 (GRCm39) S582P probably benign Het
Sypl2 A G 3: 108,121,854 (GRCm39) *265Q probably null Het
Taar8a T A 10: 23,953,306 (GRCm39) Y303* probably null Het
Tasor2 T C 13: 3,625,292 (GRCm39) T1553A probably benign Het
Tlr2 T A 3: 83,743,849 (GRCm39) I745F probably damaging Het
Tnrc6b A G 15: 80,813,594 (GRCm39) T1784A probably benign Het
Tpo C A 12: 30,169,431 (GRCm39) M101I probably benign Het
Trpm2 G T 10: 77,773,784 (GRCm39) R544S probably benign Het
Ttc14 A G 3: 33,863,400 (GRCm39) R603G unknown Het
Tubgcp6 A C 15: 88,984,925 (GRCm39) V1694G probably damaging Het
Uba6 C A 5: 86,294,970 (GRCm39) K356N probably benign Het
Usp16 T C 16: 87,261,723 (GRCm39) V113A possibly damaging Het
Vcam1 G A 3: 115,908,032 (GRCm39) Q677* probably null Het
Vmn1r238 T A 18: 3,122,721 (GRCm39) E231V probably damaging Het
Vmn1r70 T C 7: 10,367,871 (GRCm39) F120L probably benign Het
Vmn2r116 T A 17: 23,603,830 (GRCm39) probably null Het
Vmn2r5 A T 3: 64,411,825 (GRCm39) C248S probably damaging Het
Vmn2r87 A T 10: 130,314,940 (GRCm39) D215E probably damaging Het
Xkr4 T G 1: 3,740,911 (GRCm39) I221L probably benign Het
Zfp366 T C 13: 99,382,895 (GRCm39) I686T probably benign Het
Zfp398 T A 6: 47,843,666 (GRCm39) C573S 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
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'- GCTAAAGTTCTTCTAATAATGCGGC -3'
(R):5'- AGTTCCAGAGAAGCCTGACCTTC -3'

Sequencing Primer
(F):5'- GTTCTTCTAATAATGCGGCAAAATAC -3'
(R):5'- AGAAGCCTGACCTTCTCCGTG -3'
Posted On 2019-10-17