Incidental Mutation 'IGL00905:Slc25a47'
ID 28701
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a47
Ensembl Gene ENSMUSG00000048856
Gene Name solute carrier family 25, member 47
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00905
Quality Score
Status
Chromosome 12
Chromosomal Location 108815740-108822741 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 108821314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 141 (T141K)
Ref Sequence ENSEMBL: ENSMUSP00000152260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057026] [ENSMUST00000109848] [ENSMUST00000160477] [ENSMUST00000161154] [ENSMUST00000161410] [ENSMUST00000221080]
AlphaFold Q6IS41
Predicted Effect probably benign
Transcript: ENSMUST00000057026
AA Change: T141K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000050329
Gene: ENSMUSG00000048856
AA Change: T141K

DomainStartEndE-ValueType
Pfam:Mito_carr 1 84 1.2e-19 PFAM
Pfam:Mito_carr 94 212 1.5e-19 PFAM
Pfam:Mito_carr 215 308 6.1e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109848
SMART Domains Protein: ENSMUSP00000105474
Gene: ENSMUSG00000021266

DomainStartEndE-ValueType
WHEP-TRS 16 72 3.01e-23 SMART
Pfam:tRNA-synt_1b 155 447 5.8e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160477
Predicted Effect probably benign
Transcript: ENSMUST00000161154
SMART Domains Protein: ENSMUSP00000124625
Gene: ENSMUSG00000021266

DomainStartEndE-ValueType
WHEP-TRS 16 72 3.01e-23 SMART
Pfam:tRNA-synt_1b 155 446 1.4e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161410
SMART Domains Protein: ENSMUSP00000125320
Gene: ENSMUSG00000021266

DomainStartEndE-ValueType
WHEP-TRS 16 72 3.01e-23 SMART
Pfam:tRNA-synt_1b 155 447 5.8e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221080
AA Change: T141K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221787
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg16l2 T C 7: 100,949,373 (GRCm39) E58G probably damaging Het
D130040H23Rik A T 8: 69,753,422 (GRCm39) K16I possibly damaging Het
D630003M21Rik T C 2: 158,055,332 (GRCm39) T602A possibly damaging Het
Fam161b C T 12: 84,404,459 (GRCm39) V74I probably benign Het
Grk1 A G 8: 13,466,068 (GRCm39) E504G probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
L3mbtl3 C T 10: 26,189,744 (GRCm39) probably null Het
Map1s A G 8: 71,358,673 (GRCm39) probably benign Het
Mprip T C 11: 59,662,994 (GRCm39) V982A possibly damaging Het
Or5aq1b A G 2: 86,901,563 (GRCm39) I305T probably benign Het
Or8g19 T G 9: 39,056,326 (GRCm39) F310C probably damaging Het
Phf1 A T 17: 27,155,568 (GRCm39) R378W possibly damaging Het
Pramel25 A G 4: 143,521,844 (GRCm39) T487A probably benign Het
Ptpn3 A T 4: 57,270,050 (GRCm39) D37E possibly damaging Het
Rcbtb1 A G 14: 59,465,754 (GRCm39) S366G probably benign Het
Scn5a C A 9: 119,365,567 (GRCm39) W360L probably damaging Het
Scrib A G 15: 75,936,839 (GRCm39) F398S probably damaging Het
Slc9a1 T A 4: 133,097,859 (GRCm39) M2K probably benign Het
Tango6 G T 8: 107,469,104 (GRCm39) probably null Het
Tmem231 A T 8: 112,645,072 (GRCm39) probably benign Het
Tnr G A 1: 159,679,752 (GRCm39) R242Q probably benign Het
Usp5 G A 6: 124,792,576 (GRCm39) P821S probably damaging Het
Utp11 G T 4: 124,577,586 (GRCm39) P63Q probably damaging Het
Vmn1r6 T A 6: 56,979,789 (GRCm39) N128K probably damaging Het
Other mutations in Slc25a47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01138:Slc25a47 APN 12 108,821,948 (GRCm39) missense probably damaging 1.00
IGL01545:Slc25a47 APN 12 108,820,142 (GRCm39) missense probably benign 0.06
IGL01978:Slc25a47 APN 12 108,817,116 (GRCm39) missense probably damaging 0.96
R0592:Slc25a47 UTSW 12 108,820,184 (GRCm39) missense probably damaging 0.98
R4783:Slc25a47 UTSW 12 108,821,260 (GRCm39) missense probably damaging 1.00
R5549:Slc25a47 UTSW 12 108,822,143 (GRCm39) makesense probably null
R6085:Slc25a47 UTSW 12 108,820,254 (GRCm39) missense probably benign 0.19
R6378:Slc25a47 UTSW 12 108,822,069 (GRCm39) missense probably damaging 1.00
R6612:Slc25a47 UTSW 12 108,821,904 (GRCm39) missense probably benign 0.02
R7237:Slc25a47 UTSW 12 108,821,386 (GRCm39) missense probably damaging 1.00
R8304:Slc25a47 UTSW 12 108,821,868 (GRCm39) missense possibly damaging 0.61
R8711:Slc25a47 UTSW 12 108,820,313 (GRCm39) missense probably damaging 0.99
R8734:Slc25a47 UTSW 12 108,820,247 (GRCm39) missense probably benign
R9263:Slc25a47 UTSW 12 108,820,215 (GRCm39) missense probably benign 0.23
Posted On 2013-04-17