Incidental Mutation 'R3024:Slc25a54'
ID 265772
Institutional Source Beutler Lab
Gene Symbol Slc25a54
Ensembl Gene ENSMUSG00000027880
Gene Name solute carrier family 25, member 54
Synonyms 4930443G12Rik, SCaMC-1like
MMRRC Submission 040540-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R3024 (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 A at 108987982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 41 (I41N)
Ref Sequence ENSEMBL: ENSMUSP00000124484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029478] [ENSMUST00000159926]
AlphaFold B1AUS6
Predicted Effect probably damaging
Transcript: ENSMUST00000029478
AA Change: I41N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029478
Gene: ENSMUSG00000027880
AA Change: I41N

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 damaging
Transcript: ENSMUST00000159926
AA Change: I41N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124484
Gene: ENSMUSG00000027880
AA Change: I41N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195936
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef37 T C 18: 61,634,959 (GRCm39) E461G probably damaging Het
Bfsp1 A T 2: 143,687,879 (GRCm39) V182D probably benign Het
Birc6 T C 17: 74,915,214 (GRCm39) S1635P possibly damaging Het
Chil6 T C 3: 106,296,086 (GRCm39) D383G probably damaging Het
Itpr2 G A 6: 146,081,808 (GRCm39) A175V probably benign Het
Kcnh7 G T 2: 62,595,007 (GRCm39) R688S probably damaging Het
Krt6a A T 15: 101,599,724 (GRCm39) C463S probably benign Het
Ksr2 T A 5: 117,693,125 (GRCm39) I191N possibly damaging Het
Lyst T C 13: 13,833,272 (GRCm39) V1698A probably benign Het
Or12d13 A T 17: 37,647,918 (GRCm39) D68E probably damaging Het
Or4c127 A T 2: 89,833,584 (GRCm39) N278I probably damaging Het
Pappa2 C T 1: 158,763,795 (GRCm39) R572Q probably benign Het
Pes1 CGGAGGAGGAGGAGGAGGAGGAGG CGGAGGAGGAGGAGGAGGAGG 11: 3,927,719 (GRCm39) probably benign Het
Phf20 A G 2: 156,129,787 (GRCm39) H453R probably damaging Het
Prex1 G T 2: 166,430,956 (GRCm39) H615Q probably benign Het
Slc35f5 A G 1: 125,496,335 (GRCm39) S157G probably benign Het
Sstr3 G A 15: 78,424,187 (GRCm39) R187W probably damaging Het
Trim41 T C 11: 48,698,985 (GRCm39) K420E possibly damaging Het
Tsnaxip1 A G 8: 106,568,375 (GRCm39) Y353C probably damaging Het
Vmn1r238 T C 18: 3,123,305 (GRCm39) I36M probably benign Het
Xylt1 T A 7: 117,147,883 (GRCm39) V149D probably damaging Het
Zfpm2 G A 15: 40,966,355 (GRCm39) E815K 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
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
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'- TAAGTGCTACGGTCTTCAGGG -3'
(R):5'- AGCAACACATTTCACTGGGTTATG -3'

Sequencing Primer
(F):5'- CTACGGTCTTCAGGGGTCGTG -3'
(R):5'- ATTTCACACCTACTCCAAAAGCTCTG -3'
Posted On 2015-02-05