Incidental Mutation 'IGL00905:Slc25a47'
ID28701
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a47
Ensembl Gene ENSMUSG00000048856
Gene Namesolute carrier family 25, member 47
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00905
Quality Score
Status
Chromosome12
Chromosomal Location108836046-108856815 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 108855388 bp
ZygosityHeterozygous
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]
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: ENSMUST00000221787
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223296
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg16l2 T C 7: 101,300,166 E58G probably damaging Het
D130040H23Rik A T 8: 69,300,770 K16I possibly damaging Het
D630003M21Rik T C 2: 158,213,412 T602A possibly damaging Het
Fam161b C T 12: 84,357,685 V74I probably benign Het
Gm13023 A G 4: 143,795,274 T487A probably benign Het
Grk1 A G 8: 13,416,068 E504G probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
L3mbtl3 C T 10: 26,313,846 probably null Het
Map1s A G 8: 70,906,029 probably benign Het
Mprip T C 11: 59,772,168 V982A possibly damaging Het
Olfr1107 A G 2: 87,071,219 I305T probably benign Het
Olfr27 T G 9: 39,145,030 F310C probably damaging Het
Phf1 A T 17: 26,936,594 R378W possibly damaging Het
Ptpn3 A T 4: 57,270,050 D37E possibly damaging Het
Rcbtb1 A G 14: 59,228,305 S366G probably benign Het
Scn5a C A 9: 119,536,501 W360L probably damaging Het
Scrib A G 15: 76,064,990 F398S probably damaging Het
Slc9a1 T A 4: 133,370,548 M2K probably benign Het
Tango6 G T 8: 106,742,472 probably null Het
Tmem231 A T 8: 111,918,440 probably benign Het
Tnr G A 1: 159,852,182 R242Q probably benign Het
Usp5 G A 6: 124,815,613 P821S probably damaging Het
Utp11 G T 4: 124,683,793 P63Q probably damaging Het
Vmn1r6 T A 6: 57,002,804 N128K probably damaging Het
Other mutations in Slc25a47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01138:Slc25a47 APN 12 108856022 missense probably damaging 1.00
IGL01545:Slc25a47 APN 12 108854216 missense probably benign 0.06
IGL01978:Slc25a47 APN 12 108851190 missense probably damaging 0.96
R0592:Slc25a47 UTSW 12 108854258 missense probably damaging 0.98
R4783:Slc25a47 UTSW 12 108855334 missense probably damaging 1.00
R5549:Slc25a47 UTSW 12 108856217 makesense probably null
R6085:Slc25a47 UTSW 12 108854328 missense probably benign 0.19
R6378:Slc25a47 UTSW 12 108856143 missense probably damaging 1.00
R6612:Slc25a47 UTSW 12 108855978 missense probably benign 0.02
R7237:Slc25a47 UTSW 12 108855460 missense probably damaging 1.00
Posted On2013-04-17