Incidental Mutation 'R4505:Slc25a51'
ID 331960
Institutional Source Beutler Lab
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 # R4505 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 45395923-45408766 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45399768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 141 (V141M)
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: V141M

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103425
Gene: ENSMUSG00000045973
AA Change: V141M

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: V124M

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000112044
Gene: ENSMUSG00000045973
AA Change: V124M

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: V124M

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000134132
Gene: ENSMUSG00000045973
AA Change: V124M

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: V141M

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000134108
Gene: ENSMUSG00000045973
AA Change: V141M

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: V141M

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000122620
Gene: ENSMUSG00000045973
AA Change: V141M

DomainStartEndE-ValueType
Pfam:Mito_carr 44 130 2e-11 PFAM
Pfam:Mito_carr 132 206 3e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175444
Meta Mutation Damage Score 0.1604 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (50/52)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A T 16: 20,152,445 (GRCm39) I1367N probably damaging Het
Acbd4 A G 11: 102,995,605 (GRCm39) probably benign Het
Adarb2 A T 13: 8,747,727 (GRCm39) S428C probably damaging Het
Atl3 T A 19: 7,498,184 (GRCm39) D193E probably benign Het
Bhlhe22 T C 3: 18,109,123 (GRCm39) S58P probably benign Het
Clasrp C A 7: 19,319,165 (GRCm39) probably benign Het
Cylc2 C G 4: 51,229,651 (GRCm39) T331R unknown Het
Epha10 A G 4: 124,809,480 (GRCm39) probably benign Het
Farp2 A T 1: 93,546,732 (GRCm39) N917I probably damaging Het
Fbh1 A G 2: 11,753,828 (GRCm39) V838A possibly damaging Het
Fras1 T A 5: 96,929,207 (GRCm39) N3870K probably damaging Het
Gm6632 C T 5: 59,211,821 (GRCm39) noncoding transcript Het
Gpr20 T C 15: 73,568,321 (GRCm39) T23A probably benign Het
Grb14 A C 2: 64,852,912 (GRCm39) V26G probably damaging Het
H2-T5 A T 17: 36,472,372 (GRCm39) probably benign Het
Itgb4 G A 11: 115,874,087 (GRCm39) silent Het
Jak1 T C 4: 101,011,800 (GRCm39) T1101A probably benign Het
Kcnq3 A T 15: 65,867,191 (GRCm39) Y817* probably null Het
Krtcap2 A G 3: 89,153,563 (GRCm39) probably benign Het
Lhx5 C A 5: 120,578,073 (GRCm39) H298N possibly damaging Het
Lrig3 C T 10: 125,849,216 (GRCm39) P979S probably benign Het
Map3k13 A G 16: 21,740,928 (GRCm39) S752G probably benign Het
Map4 T C 9: 109,861,253 (GRCm39) S206P probably benign Het
Mon2 A G 10: 122,845,494 (GRCm39) S1405P probably damaging Het
Mvb12a G T 8: 71,996,103 (GRCm39) A86S probably benign Het
Or5p62 T C 7: 107,771,175 (GRCm39) I259V probably benign Het
Or8a1b C T 9: 37,622,760 (GRCm39) V272I probably benign Het
Pithd1 T C 4: 135,706,144 (GRCm39) N37S probably benign Het
Piwil4 T C 9: 14,637,259 (GRCm39) T352A probably damaging Het
Prb1a T A 6: 132,184,533 (GRCm39) R367* probably null Het
Psmb4 A C 3: 94,793,456 (GRCm39) Y142D probably damaging Het
Ptprs T C 17: 56,758,678 (GRCm39) N181S possibly damaging Het
Rcbtb2 T C 14: 73,411,345 (GRCm39) L370P probably damaging Het
Ric8a A G 7: 140,438,429 (GRCm39) I223V probably benign Het
Runx1t1 G T 4: 13,889,676 (GRCm39) C535F probably damaging Het
Samd4b A G 7: 28,106,925 (GRCm39) M329T probably benign Het
Serpinb9g T A 13: 33,670,546 (GRCm39) F11L probably damaging Het
Sp110 T G 1: 85,516,894 (GRCm39) Q201P probably damaging Het
Taar3 A G 10: 23,825,471 (GRCm39) I6V possibly damaging Het
Tjp2 T C 19: 24,086,195 (GRCm39) T776A possibly damaging Het
Tmc1 C T 19: 20,845,738 (GRCm39) V162I probably benign Het
Upf1 G A 8: 70,790,216 (GRCm39) R637C probably damaging Het
Ush2a A G 1: 188,460,793 (GRCm39) T2685A possibly damaging Het
Vmn2r102 C T 17: 19,880,845 (GRCm39) T62I probably benign Het
Vps13c A T 9: 67,846,316 (GRCm39) Q2128L probably benign Het
Zfp26 T C 9: 20,353,561 (GRCm39) E76G probably benign Het
Zfp28 T C 7: 6,397,160 (GRCm39) S532P probably damaging Het
Other mutations in Slc25a51
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02417:Slc25a51 APN 4 45,400,074 (GRCm39) missense probably benign 0.03
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
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
Predicted Primers PCR Primer
(F):5'- ACCCATTCCGGAAAAGGATG -3'
(R):5'- TACCCGGTTCAGAAGATCCTC -3'

Sequencing Primer
(F):5'- TTCCGGAAAAGGATGGGCACC -3'
(R):5'- GCAGCTTTACGGCATCAAG -3'
Posted On 2015-07-21