Incidental Mutation 'IGL02417:Slc25a51'
ID 292486
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a51
Ensembl Gene ENSMUSG00000045973
Gene Name solute carrier family 25, member 51
Synonyms Mcart1, 9130208E07Rik, D130005A03Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.255) question?
Stock # IGL02417
Quality Score
Status
Chromosome 4
Chromosomal Location 45395923-45408766 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45400074 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 39 (S39P)
Ref Sequence ENSEMBL: ENSMUSP00000122620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107796] [ENSMUST00000116341] [ENSMUST00000132815] [ENSMUST00000151516] [ENSMUST00000153904]
AlphaFold Q5HZI9
Predicted Effect probably benign
Transcript: ENSMUST00000107796
AA Change: S39P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000103425
Gene: ENSMUSG00000045973
AA Change: S39P

DomainStartEndE-ValueType
Pfam:Mito_carr 44 130 4.7e-11 PFAM
Pfam:Mito_carr 132 223 3.5e-11 PFAM
Pfam:Mito_carr 225 315 5.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116341
AA Change: S22P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112044
Gene: ENSMUSG00000045973
AA Change: S22P

DomainStartEndE-ValueType
Pfam:Mito_carr 27 113 7.4e-12 PFAM
Pfam:Mito_carr 115 206 5.5e-12 PFAM
Pfam:Mito_carr 208 298 8.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132815
AA Change: S22P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000134132
Gene: ENSMUSG00000045973
AA Change: S22P

DomainStartEndE-ValueType
Pfam:Mito_carr 27 113 7.4e-12 PFAM
Pfam:Mito_carr 115 206 5.5e-12 PFAM
Pfam:Mito_carr 208 298 8.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151516
AA Change: S39P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000134108
Gene: ENSMUSG00000045973
AA Change: S39P

DomainStartEndE-ValueType
Pfam:Mito_carr 44 130 1.7e-11 PFAM
Pfam:Mito_carr 132 196 1.5e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153904
AA Change: S39P

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000122620
Gene: ENSMUSG00000045973
AA Change: S39P

DomainStartEndE-ValueType
Pfam:Mito_carr 44 130 2e-11 PFAM
Pfam:Mito_carr 132 206 3e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175444
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 T A 12: 52,565,136 (GRCm39) N702K probably damaging Het
Atm T C 9: 53,390,995 (GRCm39) T1860A probably benign Het
Bicdl1 A T 5: 115,811,217 (GRCm39) H231Q probably damaging Het
C2cd5 A C 6: 142,987,218 (GRCm39) D470E probably damaging Het
Chd5 T C 4: 152,451,751 (GRCm39) F688L probably damaging Het
Cul3 T C 1: 80,300,619 (GRCm39) Y74C probably damaging Het
Dhx16 A G 17: 36,203,429 (GRCm39) E1042G probably damaging Het
Dnah11 A G 12: 118,020,915 (GRCm39) L1966P probably damaging Het
Dpy19l1 A T 9: 24,386,682 (GRCm39) I204N possibly damaging Het
Drd2 T C 9: 49,313,559 (GRCm39) probably benign Het
Fasn A G 11: 120,711,166 (GRCm39) V228A probably damaging Het
Fggy T C 4: 95,737,846 (GRCm39) W148R probably benign Het
Gm9631 G A 11: 121,834,478 (GRCm39) Het
Gpr89 A T 3: 96,804,741 (GRCm39) Y38* probably null Het
H2-M1 G A 17: 36,983,026 (GRCm39) H22Y possibly damaging Het
Kdm3b T A 18: 34,941,630 (GRCm39) S574T probably benign Het
Kmt2c C T 5: 25,578,018 (GRCm39) V753I probably benign Het
Lcn9 T C 2: 25,713,692 (GRCm39) F73L possibly damaging Het
Lnpep T C 17: 17,765,165 (GRCm39) T762A possibly damaging Het
Lrp2 C T 2: 69,291,649 (GRCm39) C3510Y probably damaging Het
Nlrp3 T A 11: 59,456,849 (GRCm39) probably benign Het
Or14c39 A G 7: 86,344,027 (GRCm39) Y121C probably damaging Het
Or1j18 A T 2: 36,624,356 (GRCm39) I8F probably benign Het
Or5b3 A G 19: 13,388,259 (GRCm39) T109A possibly damaging Het
Pcnx3 A T 19: 5,736,509 (GRCm39) V176E possibly damaging Het
Phlpp1 T C 1: 106,320,444 (GRCm39) S1480P probably benign Het
Ppfia3 T C 7: 44,991,141 (GRCm39) R1027G probably damaging Het
Rnf216 A G 5: 143,054,665 (GRCm39) Y628H possibly damaging Het
Sh3bp1 G A 15: 78,785,699 (GRCm39) R4Q probably damaging Het
Skint9 A G 4: 112,271,335 (GRCm39) probably benign Het
Smarca4 C T 9: 21,612,386 (GRCm39) R1558C probably damaging Het
Spag9 A G 11: 94,007,567 (GRCm39) S1224G probably benign Het
Spdl1 G T 11: 34,704,181 (GRCm39) Q551K probably benign Het
Sugt1 A G 14: 79,847,698 (GRCm39) I183V probably benign Het
Th G A 7: 142,453,643 (GRCm39) S19L probably damaging Het
Tmprss11g A G 5: 86,638,750 (GRCm39) V246A probably benign Het
Tnfaip8l2 T C 3: 95,047,714 (GRCm39) T50A probably benign Het
Tox3 G T 8: 90,984,759 (GRCm39) T140K possibly damaging Het
Unc50 T A 1: 37,476,531 (GRCm39) Y205* probably null Het
Vmn2r83 A T 10: 79,314,881 (GRCm39) K376N probably benign Het
Other mutations in Slc25a51
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4284:Slc25a51 UTSW 4 45,399,768 (GRCm39) missense probably benign 0.43
R4285:Slc25a51 UTSW 4 45,399,768 (GRCm39) missense probably benign 0.43
R4287:Slc25a51 UTSW 4 45,399,768 (GRCm39) missense probably benign 0.43
R4505:Slc25a51 UTSW 4 45,399,768 (GRCm39) missense probably benign 0.43
R4506:Slc25a51 UTSW 4 45,399,768 (GRCm39) missense probably benign 0.43
R6819:Slc25a51 UTSW 4 45,399,365 (GRCm39) missense possibly damaging 0.95
R7387:Slc25a51 UTSW 4 45,399,841 (GRCm39) missense possibly damaging 0.95
R7432:Slc25a51 UTSW 4 45,399,765 (GRCm39) missense possibly damaging 0.95
R8094:Slc25a51 UTSW 4 45,399,783 (GRCm39) missense probably benign 0.00
R9056:Slc25a51 UTSW 4 45,399,494 (GRCm39) missense probably damaging 1.00
R9512:Slc25a51 UTSW 4 45,399,360 (GRCm39) missense probably benign
Posted On 2015-04-16