Incidental Mutation 'IGL00434:Slc25a44'
ID 14074
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a44
Ensembl Gene ENSMUSG00000050144
Gene Name solute carrier family 25, member 44
Synonyms B430110G05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # IGL00434
Quality Score
Status
Chromosome 3
Chromosomal Location 88317805-88332446 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88323369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 227 (I227V)
Ref Sequence ENSEMBL: ENSMUSP00000141780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057935] [ENSMUST00000168755] [ENSMUST00000193433] [ENSMUST00000195657]
AlphaFold Q8BGF9
Predicted Effect probably benign
Transcript: ENSMUST00000057935
AA Change: I246V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000057871
Gene: ENSMUSG00000050144
AA Change: I246V

DomainStartEndE-ValueType
Pfam:Mito_carr 38 124 7.1e-17 PFAM
Pfam:Mito_carr 124 232 1.3e-18 PFAM
Pfam:Mito_carr 239 325 4.9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168755
SMART Domains Protein: ENSMUSP00000130075
Gene: ENSMUSG00000050144

DomainStartEndE-ValueType
Pfam:Mito_carr 36 124 1.1e-17 PFAM
Pfam:Mito_carr 124 227 5.5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193433
AA Change: I227V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141465
Gene: ENSMUSG00000050144
AA Change: I227V

DomainStartEndE-ValueType
Pfam:Mito_carr 17 105 2e-17 PFAM
Pfam:Mito_carr 105 214 3e-18 PFAM
Pfam:Mito_carr 220 306 1.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195657
AA Change: I227V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141780
Gene: ENSMUSG00000050144
AA Change: I227V

DomainStartEndE-ValueType
Pfam:Mito_carr 17 105 2e-17 PFAM
Pfam:Mito_carr 105 214 3e-18 PFAM
Pfam:Mito_carr 220 306 1.2e-17 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A44 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid2 T C 15: 96,269,181 (GRCm39) V1098A probably damaging Het
Bltp1 T C 3: 37,041,448 (GRCm39) F2609L probably damaging Het
Ccdc126 C T 6: 49,311,239 (GRCm39) probably benign Het
Cds2 T C 2: 132,135,271 (GRCm39) L54P probably damaging Het
Cdsn A T 17: 35,865,740 (GRCm39) S90C unknown Het
Clcn6 G T 4: 148,098,195 (GRCm39) D581E probably damaging Het
Clec4f T A 6: 83,630,198 (GRCm39) H120L possibly damaging Het
Col12a1 T C 9: 79,560,614 (GRCm39) T1838A probably benign Het
Col22a1 T C 15: 71,878,524 (GRCm39) D211G possibly damaging Het
Cpne8 T C 15: 90,381,261 (GRCm39) probably benign Het
Dgkk T A X: 6,772,697 (GRCm39) M462K probably benign Het
Dhx29 T A 13: 113,091,759 (GRCm39) H834Q probably benign Het
Esyt1 A G 10: 128,353,504 (GRCm39) Y578H possibly damaging Het
Fnip2 C A 3: 79,419,796 (GRCm39) probably benign Het
Fut1 T G 7: 45,268,855 (GRCm39) C270G probably damaging Het
Ganab T A 19: 8,884,707 (GRCm39) V170D probably damaging Het
Gys1 T A 7: 45,094,256 (GRCm39) M364K possibly damaging Het
Ighv1-85 A C 12: 115,963,654 (GRCm39) C115W probably damaging Het
Igkv4-74 T G 6: 69,162,044 (GRCm39) T42P probably damaging Het
Jmjd4 A G 11: 59,341,321 (GRCm39) Y84C probably damaging Het
Kif11 A C 19: 37,399,857 (GRCm39) E781D possibly damaging Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Klf1 C T 8: 85,628,628 (GRCm39) P9S possibly damaging Het
Lrrn3 T C 12: 41,502,191 (GRCm39) probably benign Het
Ltbp4 C A 7: 27,028,230 (GRCm39) R309L probably damaging Het
Marchf10 T C 11: 105,293,014 (GRCm39) E131G possibly damaging Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mgme1 T A 2: 144,121,056 (GRCm39) probably benign Het
Nkiras2 G A 11: 100,515,808 (GRCm39) G45D probably damaging Het
Orc2 A T 1: 58,532,875 (GRCm39) D16E possibly damaging Het
Pcyox1l T C 18: 61,830,613 (GRCm39) T420A probably benign Het
Pira13 C A 7: 3,826,088 (GRCm39) G302C probably damaging Het
Pm20d1 A G 1: 131,741,738 (GRCm39) probably benign Het
Ppp1r3c T C 19: 36,711,503 (GRCm39) D89G probably damaging Het
Ppp2ca G A 11: 52,012,776 (GRCm39) R302H probably benign Het
Riok3 T C 18: 12,281,904 (GRCm39) V291A probably damaging Het
Rragd A G 4: 33,007,219 (GRCm39) probably benign Het
Scai C A 2: 38,998,406 (GRCm39) L174F probably damaging Het
Slc35f1 T C 10: 52,938,548 (GRCm39) L160P probably damaging Het
Slc38a1 A G 15: 96,483,504 (GRCm39) Y275H possibly damaging Het
Slco6b1 A G 1: 96,916,375 (GRCm39) noncoding transcript Het
Spag8 G T 4: 43,652,890 (GRCm39) C190* probably null Het
Tbr1 T C 2: 61,635,625 (GRCm39) F192L probably benign Het
Tti1 C T 2: 157,850,886 (GRCm39) E118K probably damaging Het
Tti1 T A 2: 157,850,885 (GRCm39) E118V probably damaging Het
Vcan G T 13: 89,852,821 (GRCm39) P713Q probably damaging Het
Vcf2 A T X: 149,181,395 (GRCm39) V132E possibly damaging Het
Wt1 G T 2: 104,974,486 (GRCm39) probably null Het
Xylt1 T A 7: 117,249,912 (GRCm39) I694N probably damaging Het
Zfp516 T A 18: 82,975,233 (GRCm39) M477K probably benign Het
Other mutations in Slc25a44
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1199:Slc25a44 UTSW 3 88,328,293 (GRCm39) missense probably damaging 0.99
R1283:Slc25a44 UTSW 3 88,327,885 (GRCm39) missense probably damaging 1.00
R1590:Slc25a44 UTSW 3 88,323,314 (GRCm39) missense possibly damaging 0.94
R6005:Slc25a44 UTSW 3 88,320,153 (GRCm39) missense probably damaging 1.00
R6261:Slc25a44 UTSW 3 88,328,218 (GRCm39) missense probably damaging 1.00
R7458:Slc25a44 UTSW 3 88,323,368 (GRCm39) missense probably benign 0.14
R9327:Slc25a44 UTSW 3 88,328,025 (GRCm39) missense probably benign 0.08
Posted On 2012-12-06