Incidental Mutation 'R4287:Slc25a51'
ID322057
Institutional Source Beutler Lab
Gene Symbol Slc25a51
Ensembl Gene ENSMUSG00000045973
Gene Namesolute carrier family 25, member 51
Synonyms
MMRRC Submission 041652-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.148) question?
Stock #R4287 (G1)
Quality Score225
Status Validated
Chromosome4
Chromosomal Location45395923-45408766 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 45399768 bp
ZygosityHeterozygous
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]
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 0.03 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc5 A G 5: 122,800,601 V362A probably benign Het
Ash1l T A 3: 89,066,415 C2594S probably damaging Het
Ccdc82 C A 9: 13,253,418 Q303K probably benign Het
Cog1 A G 11: 113,654,027 Y345C probably damaging Het
Fpgt T C 3: 155,091,360 probably benign Het
Glrb A T 3: 80,845,232 V408D possibly damaging Het
Gm7135 A G 1: 97,400,398 noncoding transcript Het
Il1rn T C 2: 24,349,545 L151P probably damaging Het
Itgav G T 2: 83,724,840 E36* probably null Het
Kidins220 G A 12: 25,056,846 E1433K possibly damaging Het
Klk14 G A 7: 43,692,077 C51Y probably damaging Het
Klra3 A G 6: 130,334,302 C39R probably benign Het
Lce1i A G 3: 92,777,435 S145P unknown Het
Memo1 T C 17: 74,255,298 probably null Het
Mpp3 G A 11: 102,023,463 A102V probably damaging Het
Mug2 T A 6: 122,063,673 D727E probably benign Het
Ndufb8 T C 19: 44,552,691 I107V probably benign Het
Olfr186 A T 16: 59,027,613 M98K probably benign Het
Pnn C T 12: 59,072,170 T513I possibly damaging Het
Ric8a A G 7: 140,861,422 Y210C probably damaging Het
Ripor2 G A 13: 24,725,009 V1037M probably damaging Het
Rreb1 A T 13: 37,931,931 T1089S probably benign Het
Rrs1 C T 1: 9,546,223 R234C possibly damaging Het
Rrs1 C T 1: 9,546,215 S231L probably damaging Het
Sec23ip A G 7: 128,777,333 D838G probably benign Het
Setbp1 T C 18: 78,859,061 I464V probably benign Het
Slc41a3 A T 6: 90,640,922 H310L probably benign Het
Smurf1 A G 5: 144,891,458 S363P probably benign Het
Tln1 C T 4: 43,543,509 R1269Q probably benign Het
Tmed3 A G 9: 89,704,898 S10P probably benign Het
Tomm70a T G 16: 57,140,622 Y313D probably damaging Het
Umodl1 A G 17: 30,988,065 E810G probably benign Het
Unc5c T C 3: 141,714,674 I52T probably damaging Het
Unc5d T A 8: 28,719,796 Y432F probably benign Het
Vmn2r97 A T 17: 18,948,075 probably benign Het
Zfp629 T C 7: 127,611,938 Y233C probably damaging Het
Zfp986 T C 4: 145,892,518 probably null Het
Other mutations in Slc25a51
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02417:Slc25a51 APN 4 45400074 missense probably benign 0.03
R4284:Slc25a51 UTSW 4 45399768 missense probably benign 0.43
R4285:Slc25a51 UTSW 4 45399768 missense probably benign 0.43
R4505:Slc25a51 UTSW 4 45399768 missense probably benign 0.43
R4506:Slc25a51 UTSW 4 45399768 missense probably benign 0.43
R6819:Slc25a51 UTSW 4 45399365 missense possibly damaging 0.95
R7387:Slc25a51 UTSW 4 45399841 missense possibly damaging 0.95
R7432:Slc25a51 UTSW 4 45399765 missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TTCCGGAAAAGGATGGGCAC -3'
(R):5'- ACCCGGTTCAGAAGATCCTC -3'

Sequencing Primer
(F):5'- ACCATGCCTCGGTAATACTCTG -3'
(R):5'- GCAGCTTTACGGCATCAAG -3'
Posted On2015-06-20