Incidental Mutation 'R4914:Slc25a54'
ID 379788
Institutional Source Beutler Lab
Gene Symbol Slc25a54
Ensembl Gene ENSMUSG00000027880
Gene Name solute carrier family 25, member 54
Synonyms 4930443G12Rik, SCaMC-1like
MMRRC Submission 042516-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R4914 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 108987815-109023898 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 109018395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 292 (F292L)
Ref Sequence ENSEMBL: ENSMUSP00000029478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029478] [ENSMUST00000159926]
AlphaFold B1AUS6
Predicted Effect probably benign
Transcript: ENSMUST00000029478
AA Change: F292L

PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000029478
Gene: ENSMUSG00000027880
AA Change: F292L

DomainStartEndE-ValueType
EFh 23 51 4.28e0 SMART
EFh 59 87 3.82e0 SMART
EFh 90 118 4.12e-3 SMART
EFh 126 154 3.44e1 SMART
Pfam:Mito_carr 191 283 3.7e-25 PFAM
Pfam:Mito_carr 284 376 7.2e-24 PFAM
Pfam:Mito_carr 383 472 2.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159926
SMART Domains Protein: ENSMUSP00000124484
Gene: ENSMUSG00000027880

DomainStartEndE-ValueType
Blast:EFh 1 21 6e-9 BLAST
Pfam:Mito_carr 57 150 3.2e-26 PFAM
Pfam:Mito_carr 151 243 3.6e-25 PFAM
Pfam:Mito_carr 249 339 1.5e-16 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace G A 11: 105,870,423 (GRCm39) V281M probably damaging Het
Ap1b1 C T 11: 4,974,400 (GRCm39) T363I possibly damaging Het
Apobec2 T C 17: 48,730,153 (GRCm39) E171G probably benign Het
Arhgef1 T A 7: 24,623,264 (GRCm39) L436Q probably damaging Het
Atxn2 T A 5: 121,887,159 (GRCm39) D276E probably damaging Het
AU040320 A T 4: 126,729,469 (GRCm39) K544* probably null Het
Baz2b T A 2: 59,744,387 (GRCm39) T1373S possibly damaging Het
Bcas1 T C 2: 170,220,806 (GRCm39) D324G probably damaging Het
Bdp1 A G 13: 100,192,844 (GRCm39) V1330A probably benign Het
Bfsp1 C T 2: 143,669,391 (GRCm39) R396Q probably benign Het
Bpifb9b T A 2: 154,156,026 (GRCm39) probably null Het
Cabs1 T C 5: 88,128,296 (GRCm39) Y316H probably damaging Het
Carmil2 A G 8: 106,420,175 (GRCm39) K908E possibly damaging Het
Ccdc188 C A 16: 18,036,083 (GRCm39) P86Q probably benign Het
Cdh26 T C 2: 178,091,614 (GRCm39) S58P probably benign Het
Cemip2 G A 19: 21,786,653 (GRCm39) V472I probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dclk2 A T 3: 86,732,049 (GRCm39) probably null Het
Dennd5a A G 7: 109,500,296 (GRCm39) F943S probably damaging Het
Disp2 A T 2: 118,620,935 (GRCm39) S556C probably damaging Het
Dnai3 A G 3: 145,772,582 (GRCm39) I488T probably damaging Het
Dpp4 A T 2: 62,178,236 (GRCm39) M632K probably benign Het
E030030I06Rik G A 10: 21,990,197 (GRCm39) T192M possibly damaging Het
Ece2 C T 16: 20,462,820 (GRCm39) R582C probably damaging Het
Ehbp1 T C 11: 22,096,592 (GRCm39) D299G probably benign Het
Emc1 C T 4: 139,102,476 (GRCm39) R924* probably null Het
Etaa1 A T 11: 17,896,532 (GRCm39) S528R probably benign Het
Exoc2 A T 13: 31,060,796 (GRCm39) N569K probably benign Het
Fasn T G 11: 120,707,472 (GRCm39) N799T probably benign Het
Fbxo3 T G 2: 103,885,311 (GRCm39) N388K probably damaging Het
Fbxw16 C T 9: 109,267,245 (GRCm39) V329I probably benign Het
Fer1l4 T C 2: 155,873,220 (GRCm39) K1287E probably benign Het
Fermt1 A G 2: 132,748,760 (GRCm39) V621A probably damaging Het
Fnbp4 A G 2: 90,581,513 (GRCm39) T189A probably benign Het
Fut8 G T 12: 77,521,818 (GRCm39) A486S probably damaging Het
G6pd2 T A 5: 61,967,672 (GRCm39) Y482* probably null Het
Gfra1 A T 19: 58,255,522 (GRCm39) S308R probably damaging Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Gper1 A G 5: 139,412,623 (GRCm39) I323V probably benign Het
Grm5 C A 7: 87,779,337 (GRCm39) R958S probably benign Het
H2-DMb2 A G 17: 34,369,503 (GRCm39) T85A probably benign Het
Hgsnat A G 8: 26,454,866 (GRCm39) S220P probably damaging Het
Hspa12a A T 19: 58,787,884 (GRCm39) M646K probably damaging Het
Inpp5f A T 7: 128,286,840 (GRCm39) D573V probably damaging Het
Jmjd1c A G 10: 67,054,750 (GRCm39) N344D probably damaging Het
Kif1c A G 11: 70,599,681 (GRCm39) E471G probably damaging Het
Lalba T A 15: 98,380,061 (GRCm39) N63I probably benign Het
Mcoln1 T A 8: 3,557,483 (GRCm39) L163* probably null Het
Mllt1 T C 17: 57,206,813 (GRCm39) T344A probably benign Het
Mpzl2 T A 9: 44,955,146 (GRCm39) D114E probably benign Het
Myef2 T A 2: 124,951,659 (GRCm39) K259* probably null Het
Myh8 C A 11: 67,183,510 (GRCm39) D740E probably damaging Het
Myo1b A T 1: 51,863,367 (GRCm39) probably null Het
Nfix T C 8: 85,498,458 (GRCm39) I172V probably benign Het
Or1b1 A T 2: 36,995,170 (GRCm39) I164N possibly damaging Het
Or2h2 T C 17: 37,396,883 (GRCm39) Y58C probably damaging Het
Or2w1b A T 13: 21,300,567 (GRCm39) Q235L probably benign Het
Or3a1b A T 11: 74,012,705 (GRCm39) I197F probably benign Het
Or5b106 T A 19: 13,123,355 (GRCm39) I223L possibly damaging Het
Orc1 T C 4: 108,461,755 (GRCm39) F584S probably damaging Het
Osgin1 C A 8: 120,169,283 (GRCm39) A60D possibly damaging Het
Pde4dip C A 3: 97,622,644 (GRCm39) V1522L probably benign Het
Phactr1 A G 13: 43,287,439 (GRCm39) T556A possibly damaging Het
Ppfia2 G C 10: 106,597,978 (GRCm39) L180F probably damaging Het
Ppm1k T A 6: 57,487,762 (GRCm39) N354Y probably damaging Het
Ppp1r1a A G 15: 103,446,265 (GRCm39) V14A probably damaging Het
Prkcd A T 14: 30,327,395 (GRCm39) probably null Het
Ranbp17 T C 11: 33,163,425 (GRCm39) S1082G probably benign Het
Rere T A 4: 150,703,601 (GRCm39) W1528R probably damaging Het
Rnf103 T A 6: 71,487,248 (GRCm39) F626L possibly damaging Het
Rsrc2 A G 5: 123,877,613 (GRCm39) probably benign Het
Scin T A 12: 40,119,373 (GRCm39) I552F possibly damaging Het
Scn3a T C 2: 65,291,799 (GRCm39) N1649S probably damaging Het
Slain2 T A 5: 73,115,609 (GRCm39) M448K probably benign Het
Slc4a1 A G 11: 102,243,279 (GRCm39) V784A probably damaging Het
Slco1b2 G A 6: 141,615,096 (GRCm39) V334I probably benign Het
Slf2 T G 19: 44,960,100 (GRCm39) D1022E probably damaging Het
Smg8 T C 11: 86,971,536 (GRCm39) E745G probably damaging Het
Smyd1 T G 6: 71,196,321 (GRCm39) I322L probably benign Het
Snx13 G A 12: 35,182,032 (GRCm39) V694I possibly damaging Het
Sox6 T C 7: 115,076,199 (GRCm39) D814G probably damaging Het
Spag6 A T 2: 18,750,360 (GRCm39) I469F probably benign Het
Spsb2 A C 6: 124,786,711 (GRCm39) E148A probably benign Het
Srprb C A 9: 103,079,147 (GRCm39) V747L possibly damaging Het
Stam A G 2: 14,107,227 (GRCm39) E16G probably damaging Het
Taar5 A T 10: 23,847,468 (GRCm39) I289F possibly damaging Het
Tgif1 C T 17: 71,152,242 (GRCm39) R70H probably damaging Het
Top2a A T 11: 98,893,786 (GRCm39) L1036H probably damaging Het
Tph1 T A 7: 46,303,283 (GRCm39) I232F probably damaging Het
Ttn T C 2: 76,577,175 (GRCm39) T24573A probably damaging Het
Tub C T 7: 108,620,161 (GRCm39) R102* probably null Het
Ube2n T A 10: 95,377,607 (GRCm39) W129R possibly damaging Het
Usp8 A T 2: 126,562,060 (GRCm39) K85* probably null Het
Vmn2r81 A T 10: 79,106,357 (GRCm39) K445M probably null Het
Vps45 T C 3: 95,926,943 (GRCm39) T535A probably damaging Het
Zfp1007 A G 5: 109,826,396 (GRCm39) S59P probably damaging Het
Zfp157 T C 5: 138,454,557 (GRCm39) S252P possibly damaging Het
Zfp605 T A 5: 110,275,567 (GRCm39) C228* probably null Het
Zfp791 T A 8: 85,837,580 (GRCm39) I95L probably benign Het
Other mutations in Slc25a54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00843:Slc25a54 APN 3 109,020,176 (GRCm39) missense possibly damaging 0.76
IGL02635:Slc25a54 APN 3 109,020,133 (GRCm39) missense possibly damaging 0.71
IGL02944:Slc25a54 APN 3 108,987,931 (GRCm39) missense probably benign 0.14
IGL02987:Slc25a54 APN 3 109,023,653 (GRCm39) missense probably benign
IGL03346:Slc25a54 APN 3 108,993,046 (GRCm39) intron probably benign
R0491:Slc25a54 UTSW 3 109,010,112 (GRCm39) missense probably damaging 1.00
R0520:Slc25a54 UTSW 3 109,014,546 (GRCm39) splice site probably benign
R0645:Slc25a54 UTSW 3 109,019,481 (GRCm39) missense possibly damaging 0.70
R1803:Slc25a54 UTSW 3 109,010,013 (GRCm39) missense probably benign
R1869:Slc25a54 UTSW 3 108,987,932 (GRCm39) nonsense probably null
R1870:Slc25a54 UTSW 3 108,987,932 (GRCm39) nonsense probably null
R3024:Slc25a54 UTSW 3 108,987,982 (GRCm39) missense probably damaging 1.00
R3763:Slc25a54 UTSW 3 109,019,370 (GRCm39) missense probably damaging 1.00
R3930:Slc25a54 UTSW 3 109,023,820 (GRCm39) missense probably benign 0.03
R3941:Slc25a54 UTSW 3 109,019,479 (GRCm39) missense probably damaging 1.00
R4346:Slc25a54 UTSW 3 109,010,055 (GRCm39) missense possibly damaging 0.52
R4347:Slc25a54 UTSW 3 109,010,055 (GRCm39) missense possibly damaging 0.52
R4445:Slc25a54 UTSW 3 109,005,984 (GRCm39) missense probably benign 0.00
R4735:Slc25a54 UTSW 3 109,005,923 (GRCm39) missense probably damaging 0.96
R4960:Slc25a54 UTSW 3 109,020,132 (GRCm39) missense possibly damaging 0.95
R5052:Slc25a54 UTSW 3 109,010,016 (GRCm39) missense probably benign 0.03
R5106:Slc25a54 UTSW 3 109,020,180 (GRCm39) missense probably benign 0.02
R5806:Slc25a54 UTSW 3 108,987,894 (GRCm39) missense probably benign
R5936:Slc25a54 UTSW 3 109,005,954 (GRCm39) missense possibly damaging 0.88
R6511:Slc25a54 UTSW 3 109,001,572 (GRCm39) missense possibly damaging 0.92
R6532:Slc25a54 UTSW 3 109,019,368 (GRCm39) missense probably damaging 1.00
R6879:Slc25a54 UTSW 3 109,020,150 (GRCm39) missense possibly damaging 0.94
R7139:Slc25a54 UTSW 3 109,005,905 (GRCm39) missense probably damaging 1.00
R7179:Slc25a54 UTSW 3 109,014,573 (GRCm39) missense probably benign 0.00
R7282:Slc25a54 UTSW 3 109,023,817 (GRCm39) nonsense probably null
R7336:Slc25a54 UTSW 3 109,023,751 (GRCm39) missense probably benign 0.00
R7355:Slc25a54 UTSW 3 109,010,085 (GRCm39) missense probably damaging 1.00
R7713:Slc25a54 UTSW 3 109,010,133 (GRCm39) missense probably damaging 0.99
R8061:Slc25a54 UTSW 3 109,018,361 (GRCm39) missense probably damaging 1.00
R8282:Slc25a54 UTSW 3 109,006,005 (GRCm39) critical splice donor site probably null
R9095:Slc25a54 UTSW 3 109,019,404 (GRCm39) missense probably benign 0.09
R9156:Slc25a54 UTSW 3 109,001,548 (GRCm39) missense probably benign 0.03
R9568:Slc25a54 UTSW 3 109,005,932 (GRCm39) missense probably damaging 1.00
Z1176:Slc25a54 UTSW 3 109,019,434 (GRCm39) frame shift probably null
Z1177:Slc25a54 UTSW 3 109,010,113 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACTAGGTTTTGCTAGTATTAGGCCC -3'
(R):5'- TCCATACTTCCCTAACAAGTGACTAAG -3'

Sequencing Primer
(F):5'- TAGGCCCCTGATATAAATTTT -3'
(R):5'- TTGGTCTATCTACAATACCATTTGTC -3'
Posted On 2016-04-15