Incidental Mutation 'R1248:Slc25a46'
ID152210
Institutional Source Beutler Lab
Gene Symbol Slc25a46
Ensembl Gene ENSMUSG00000024259
Gene Namesolute carrier family 25, member 46
Synonyms
MMRRC Submission 039315-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1248 (G1)
Quality Score213
Status Validated
Chromosome18
Chromosomal Location31580168-31609902 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 31609754 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 20 (D20N)
Ref Sequence ENSEMBL: ENSMUSP00000053325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060396] [ENSMUST00000164667]
Predicted Effect possibly damaging
Transcript: ENSMUST00000060396
AA Change: D20N

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000053325
Gene: ENSMUSG00000024259
AA Change: D20N

DomainStartEndE-ValueType
low complexity region 74 95 N/A INTRINSIC
transmembrane domain 268 290 N/A INTRINSIC
Pfam:Mito_carr 311 417 2.7e-12 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000164667
AA Change: P81S
SMART Domains Protein: ENSMUSP00000128772
Gene: ENSMUSG00000092124
AA Change: P81S

DomainStartEndE-ValueType
low complexity region 10 28 N/A INTRINSIC
low complexity region 43 64 N/A INTRINSIC
Meta Mutation Damage Score 0.1062 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.5%
Validation Efficiency 98% (43/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial solute carrier protein family member. It functions in promoting mitochondrial fission, and prevents the formation of hyperfilamentous mitochondria. Mutation of this gene results in neuropathy and optic atrophy. [provided by RefSeq, Aug 2016]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A T 10: 10,395,310 F863Y probably damaging Het
Akap12 A G 10: 4,353,847 E219G probably benign Het
Akr1c20 G A 13: 4,514,400 T38I possibly damaging Het
Ap5z1 C A 5: 142,474,500 S511R probably benign Het
Arhgap11a T A 2: 113,834,102 H612L possibly damaging Het
Atp2b2 G T 6: 113,817,192 S118Y probably damaging Het
Boc A T 16: 44,520,473 M38K probably benign Het
Ccdc171 A T 4: 83,681,244 E773D possibly damaging Het
Dmtn C T 14: 70,612,658 probably benign Het
Dnah10 G A 5: 124,755,823 probably benign Het
Efcab1 A G 16: 14,924,137 M212V probably benign Het
Fam83b T C 9: 76,503,076 N184S probably benign Het
Fam98c A G 7: 29,152,840 M98T probably damaging Het
Fbn1 T C 2: 125,301,609 K2867E probably benign Het
Fsip2 A T 2: 82,989,763 E5280V possibly damaging Het
Fuom T C 7: 140,099,718 probably benign Het
Gm3476 A T 14: 6,118,512 S204T probably benign Het
Grhl3 A G 4: 135,561,306 F23L probably benign Het
Il4i1 G T 7: 44,839,789 R334L probably damaging Het
Ipo13 A G 4: 117,901,031 S712P probably damaging Het
Lama4 G T 10: 39,056,847 S573I probably damaging Het
Lrp11 A G 10: 7,604,294 H371R probably benign Het
Mkln1 T A 6: 31,489,368 I520N probably damaging Het
Nagpa G T 16: 5,198,616 C236* probably null Het
Nktr A G 9: 121,727,370 N38S probably damaging Het
Nlrp10 G A 7: 108,925,881 R131C probably benign Het
Nxpe2 T C 9: 48,319,911 D386G possibly damaging Het
Prpf39 T A 12: 65,053,966 probably benign Het
Retreg2 A G 1: 75,145,111 probably benign Het
S100a4 G T 3: 90,605,777 S60I possibly damaging Het
Slc12a3 G T 8: 94,333,277 G184C probably damaging Het
Smc3 A G 19: 53,634,078 K695E probably benign Het
Speer2 A T 16: 69,857,067 probably null Het
Taar4 T G 10: 23,961,038 V182G possibly damaging Het
Ttll1 C G 15: 83,502,125 S93T probably benign Het
Ubl3 A T 5: 148,506,198 probably null Het
Vmn2r16 A G 5: 109,360,777 N457S probably benign Het
Vmn2r72 T C 7: 85,749,188 E528G probably benign Het
Zfp52 A C 17: 21,560,049 E53A probably damaging Het
Other mutations in Slc25a46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02272:Slc25a46 APN 18 31583568 missense probably benign
IGL02724:Slc25a46 APN 18 31605815 unclassified probably benign
LCD18:Slc25a46 UTSW 18 31597313 intron probably benign
R0375:Slc25a46 UTSW 18 31583266 missense possibly damaging 0.46
R0675:Slc25a46 UTSW 18 31609588 missense probably benign 0.00
R1155:Slc25a46 UTSW 18 31583615 missense probably benign 0.16
R1619:Slc25a46 UTSW 18 31583489 missense probably benign 0.00
R1761:Slc25a46 UTSW 18 31607262 missense possibly damaging 0.80
R1803:Slc25a46 UTSW 18 31594588 missense probably damaging 1.00
R1954:Slc25a46 UTSW 18 31600241 splice site probably null
R2013:Slc25a46 UTSW 18 31609725 missense probably benign
R2015:Slc25a46 UTSW 18 31609725 missense probably benign
R2519:Slc25a46 UTSW 18 31602761 missense probably benign
R3896:Slc25a46 UTSW 18 31583672 missense probably damaging 1.00
R4423:Slc25a46 UTSW 18 31609598 missense probably benign
R4647:Slc25a46 UTSW 18 31600192 missense probably damaging 0.99
R4948:Slc25a46 UTSW 18 31583283 missense probably damaging 0.96
R4959:Slc25a46 UTSW 18 31602754 missense possibly damaging 0.85
R5017:Slc25a46 UTSW 18 31605783 missense probably damaging 0.96
R5654:Slc25a46 UTSW 18 31583240 missense probably damaging 1.00
R7983:Slc25a46 UTSW 18 31583430 missense probably damaging 1.00
Z1176:Slc25a46 UTSW 18 31609685 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGCACAAATCGCGTGCCGAG -3'
(R):5'- AGCCGTGACTTCCGGTTGTCAG -3'

Sequencing Primer
(F):5'- ccgggAAAGGGCTCCTC -3'
(R):5'- GACTTCCGGTTGTCAGTCTCC -3'
Posted On2014-01-29