Incidental Mutation 'R6511:Slc25a54'
ID 519904
Institutional Source Beutler Lab
Gene Symbol Slc25a54
Ensembl Gene ENSMUSG00000027880
Gene Name solute carrier family 25, member 54
Synonyms 4930443G12Rik, SCaMC-1like
MMRRC Submission 044639-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R6511 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 108987815-109023898 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 109001572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 120 (I120S)
Ref Sequence ENSEMBL: ENSMUSP00000029478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029478] [ENSMUST00000159926]
AlphaFold B1AUS6
Predicted Effect possibly damaging
Transcript: ENSMUST00000029478
AA Change: I120S

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029478
Gene: ENSMUSG00000027880
AA Change: I120S

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: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,195,344 (GRCm39) H718Y probably damaging Het
Abcc8 G A 7: 45,800,285 (GRCm39) T499I possibly damaging Het
Azin2 C A 4: 128,828,259 (GRCm39) R316L probably damaging Het
Cep85l C T 10: 53,154,188 (GRCm39) V702I probably benign Het
Cfap69 A T 5: 5,667,220 (GRCm39) C442S probably damaging Het
Commd3 G A 2: 18,679,650 (GRCm39) G148R probably benign Het
Cyfip2 T C 11: 46,087,135 (GRCm39) T1252A probably benign Het
Cyp4a30b A T 4: 115,313,905 (GRCm39) D162V probably damaging Het
Exoc3l G T 8: 106,019,887 (GRCm39) T346K probably benign Het
Gas8 T C 8: 124,250,896 (GRCm39) V123A probably benign Het
Hmcn2 T G 2: 31,246,354 (GRCm39) D774E possibly damaging Het
Itga1 G T 13: 115,129,037 (GRCm39) S540R probably damaging Het
Itpr2 T C 6: 146,231,225 (GRCm39) N1145S probably damaging Het
Kcnc2 C T 10: 112,297,972 (GRCm39) probably benign Het
Lrp5 G A 19: 3,702,296 (GRCm39) R174W probably damaging Het
Lrrn4 T G 2: 132,712,246 (GRCm39) S526R probably benign Het
Map3k6 G A 4: 132,975,389 (GRCm39) R708H probably damaging Het
Mefv T C 16: 3,533,810 (GRCm39) T154A probably benign Het
Mrtfb T A 16: 13,197,714 (GRCm39) S66R probably damaging Het
Mtif2 G T 11: 29,486,949 (GRCm39) A320S possibly damaging Het
Nos2 A G 11: 78,846,290 (GRCm39) probably null Het
Or4k15b A G 14: 50,272,266 (GRCm39) L198P probably damaging Het
Or9g4 A G 2: 85,505,184 (GRCm39) S104P possibly damaging Het
Pip5k1c T C 10: 81,146,651 (GRCm39) Y44H probably damaging Het
Ppp1r13b T C 12: 111,798,001 (GRCm39) E972G probably damaging Het
Prdm12 T C 2: 31,530,321 (GRCm39) S71P probably damaging Het
Prkag2 G T 5: 25,305,286 (GRCm39) probably benign Het
Ptprb T C 10: 116,182,725 (GRCm39) L1467P probably damaging Het
Rnf43 G A 11: 87,622,989 (GRCm39) V697I probably benign Het
Rpl7 C A 1: 16,173,889 (GRCm39) A12S probably benign Het
Slc41a2 T C 10: 83,119,652 (GRCm39) H370R probably damaging Het
Speer1d A G 5: 11,307,275 (GRCm39) Y51C probably benign Het
Sv2c C T 13: 96,185,033 (GRCm39) V215I probably benign Het
Synpo2l T C 14: 20,712,518 (GRCm39) E34G probably damaging Het
Tubgcp5 T A 7: 55,467,140 (GRCm39) C703* probably null Het
Vmn1r158 T C 7: 22,490,116 (GRCm39) K31R probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp2 A T 11: 50,791,234 (GRCm39) C270S probably damaging 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
R4914:Slc25a54 UTSW 3 109,018,395 (GRCm39) missense probably benign 0.34
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
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'- CAAATGTAAACTCGGTGGCAAC -3'
(R):5'- CACGTTCAACCATCTCATACATATG -3'

Sequencing Primer
(F):5'- CAACATTTCGGTGTTTTTAGGC -3'
(R):5'- TTCAACCATCTCATACATATGAATCC -3'
Posted On 2018-06-06