Incidental Mutation 'IGL01138:Slc25a47'
ID 52497
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 # IGL01138
Quality Score
Status
Chromosome 12
Chromosomal Location 108815740-108822741 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 108821948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 246 (R246C)
Ref Sequence ENSEMBL: ENSMUSP00000050329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057026] [ENSMUST00000109848] [ENSMUST00000160477] [ENSMUST00000161154] [ENSMUST00000161410] [ENSMUST00000221080]
AlphaFold Q6IS41
Predicted Effect probably damaging
Transcript: ENSMUST00000057026
AA Change: R246C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050329
Gene: ENSMUSG00000048856
AA Change: R246C

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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A G 13: 61,002,673 (GRCm39) V27A probably benign Het
Abcg5 T A 17: 84,972,275 (GRCm39) R499S possibly damaging Het
Adamts13 T C 2: 26,873,054 (GRCm39) S341P probably damaging Het
Adgrg1 T A 8: 95,730,085 (GRCm39) C96S probably damaging Het
Arhgap44 A G 11: 64,932,275 (GRCm39) F215S probably damaging Het
Arhgef25 A G 10: 127,020,039 (GRCm39) F400L probably damaging Het
Baz1a T C 12: 54,977,110 (GRCm39) E384G probably damaging Het
Col12a1 T C 9: 79,585,335 (GRCm39) D1314G probably damaging Het
Col6a3 T A 1: 90,735,232 (GRCm39) I806F probably damaging Het
Coro1c G A 5: 113,990,222 (GRCm39) probably benign Het
Dnmt3b A T 2: 153,503,361 (GRCm39) D4V probably benign Het
Ermn G T 2: 57,942,707 (GRCm39) L8M possibly damaging Het
F13b T A 1: 139,444,950 (GRCm39) N533K probably damaging Het
Fam171a1 T C 2: 3,203,657 (GRCm39) V93A possibly damaging Het
Gpr107 T A 2: 31,062,028 (GRCm39) L152Q probably benign Het
Guca1a C A 17: 47,711,309 (GRCm39) E12D probably damaging Het
Igtp A G 11: 58,096,970 (GRCm39) N47S possibly damaging Het
Lratd2 T A 15: 60,694,967 (GRCm39) I260F probably damaging Het
Lrrc8e A G 8: 4,284,084 (GRCm39) N103S probably damaging Het
Lsmem1 A G 12: 40,230,698 (GRCm39) L68P probably damaging Het
Maml3 A G 3: 51,597,979 (GRCm39) S902P possibly damaging Het
Mkln1 A T 6: 31,409,925 (GRCm39) N188Y probably damaging Het
Mlxip C T 5: 123,588,219 (GRCm39) R771W probably damaging Het
Myf6 T C 10: 107,330,259 (GRCm39) R103G probably damaging Het
Ncam2 T A 16: 81,314,467 (GRCm39) I481K probably damaging Het
Nrap T A 19: 56,343,970 (GRCm39) S645C probably damaging Het
Nup205 G T 6: 35,185,019 (GRCm39) E813* probably null Het
Or13c7c A G 4: 43,835,617 (GRCm39) L291P probably damaging Het
Plekhg5 C T 4: 152,191,435 (GRCm39) R410W probably damaging Het
Pnma8b C A 7: 16,679,088 (GRCm39) T24K unknown Het
Polq A T 16: 36,866,231 (GRCm39) Y476F possibly damaging Het
Prkd2 T C 7: 16,582,736 (GRCm39) S200P probably damaging Het
Rif1 C A 2: 52,001,534 (GRCm39) L1663I probably damaging Het
Serpina5 A G 12: 104,070,003 (GRCm39) Y300C possibly damaging Het
Shroom4 T C X: 6,497,257 (GRCm39) S806P probably damaging Het
Sirpa T C 2: 129,472,085 (GRCm39) V290A probably damaging Het
Slc9a6 A G X: 55,668,791 (GRCm39) D199G probably damaging Het
Smarca5 T A 8: 81,427,705 (GRCm39) K1048M possibly damaging Het
Sos2 C T 12: 69,663,623 (GRCm39) probably benign Het
Trpm5 T A 7: 142,628,306 (GRCm39) M990L probably benign Het
Vmn2r99 A T 17: 19,602,885 (GRCm39) T547S probably damaging Het
Vps13b T C 15: 35,446,916 (GRCm39) probably benign Het
Zfp994 G A 17: 22,421,649 (GRCm39) probably benign Het
Other mutations in Slc25a47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:Slc25a47 APN 12 108,821,314 (GRCm39) missense probably benign 0.00
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 2013-06-21