Incidental Mutation 'R5052:Slc25a54'
ID 394682
Institutional Source Beutler Lab
Gene Symbol Slc25a54
Ensembl Gene ENSMUSG00000027880
Gene Name solute carrier family 25, member 54
Synonyms 4930443G12Rik, SCaMC-1like
MMRRC Submission 042642-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R5052 (G1)
Quality Score 135
Status Validated
Chromosome 3
Chromosomal Location 108987815-109023898 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109010016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 172 (I172V)
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: I172V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000029478
Gene: ENSMUSG00000027880
AA Change: I172V

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.0%
  • 10x: 94.8%
  • 20x: 86.2%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 A T 3: 121,563,162 (GRCm39) probably null Het
Adgrv1 T C 13: 81,676,940 (GRCm39) T1964A probably damaging Het
Agbl5 C T 5: 31,048,558 (GRCm39) T210I possibly damaging Het
Ak5 T C 3: 152,366,204 (GRCm39) T66A probably benign Het
Aktip G A 8: 91,856,279 (GRCm39) T66I possibly damaging Het
Aldh1l2 T C 10: 83,344,556 (GRCm39) Y330C possibly damaging Het
Btbd19 T G 4: 116,979,454 (GRCm39) K122Q possibly damaging Het
Cd180 A G 13: 102,841,403 (GRCm39) T150A probably benign Het
Celsr2 A G 3: 108,319,674 (GRCm39) I1046T probably damaging Het
Cep170 C T 1: 176,621,117 (GRCm39) R20Q probably damaging Het
Cercam T A 2: 29,765,639 (GRCm39) N260K probably damaging Het
Cfh T A 1: 140,071,782 (GRCm39) H284L probably damaging Het
Chmp5 A G 4: 40,948,608 (GRCm39) M1V probably null Het
Elp3 A T 14: 65,815,389 (GRCm39) I220N probably damaging Het
Esyt2 A G 12: 116,331,416 (GRCm39) T765A probably damaging Het
Evi5l T C 8: 4,256,019 (GRCm39) probably benign Het
Gm5866 T G 5: 52,740,234 (GRCm39) noncoding transcript Het
Grik1 C A 16: 87,746,986 (GRCm39) G417V probably benign Het
Gtpbp1 T G 15: 79,600,170 (GRCm39) I399R probably damaging Het
Il17rc T C 6: 113,449,284 (GRCm39) C14R probably damaging Het
Ipo9 T C 1: 135,316,349 (GRCm39) probably null Het
Kazn G A 4: 141,845,514 (GRCm39) probably benign Het
Map3k15 T C X: 158,771,742 (GRCm39) V105A possibly damaging Het
Mitf A G 6: 97,987,406 (GRCm39) T320A possibly damaging Het
Ncapd3 T G 9: 26,963,015 (GRCm39) L440R probably damaging Het
Nrxn2 C G 19: 6,505,234 (GRCm39) A359G probably damaging Het
P2rx3 T G 2: 84,829,368 (GRCm39) I371L probably benign Het
Pde1b C A 15: 103,436,075 (GRCm39) Q493K possibly damaging Het
Ptpn13 T C 5: 103,709,846 (GRCm39) F1503S probably damaging Het
Ptprz1 T G 6: 23,045,625 (GRCm39) W1283G probably damaging Het
Rasd2 T A 8: 75,948,564 (GRCm39) D163E possibly damaging Het
Rgs11 A G 17: 26,426,947 (GRCm39) probably benign Het
Scap T C 9: 110,182,220 (GRCm39) I37T possibly damaging Het
Sgms2 C T 3: 131,124,005 (GRCm39) V232M probably benign Het
Sympk C T 7: 18,769,967 (GRCm39) R215C probably benign Het
Tacc2 T A 7: 130,336,744 (GRCm39) D171E probably damaging Het
Tmco4 A G 4: 138,785,817 (GRCm39) E629G probably benign Het
Trav7-1 T G 14: 52,892,765 (GRCm39) L106R possibly damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Utf1 T C 7: 139,524,814 (GRCm39) probably benign Het
Zdhhc13 A G 7: 48,474,479 (GRCm39) N577S possibly damaging Het
Zmym6 A G 4: 127,017,767 (GRCm39) N1183D possibly 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
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'- AACCATTCGAGTATAAGCACTGTGTAC -3'
(R):5'- TGCCAGGCACTTAAAATCAACG -3'

Sequencing Primer
(F):5'- AGCACTGTGTACTAAGTAAATTGTC -3'
(R):5'- CTCTTCAGGAGTGGGCAAG -3'
Posted On 2016-06-15