Incidental Mutation 'R2519:Slc25a46'
ID254278
Institutional Source Beutler Lab
Gene Symbol Slc25a46
Ensembl Gene ENSMUSG00000024259
Gene Namesolute carrier family 25, member 46
Synonyms
MMRRC Submission 040423-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2519 (G1)
Quality Score225
Status Validated
Chromosome18
Chromosomal Location31580168-31609902 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 31602761 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 142 (S142T)
Ref Sequence ENSEMBL: ENSMUSP00000053325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060396]
Predicted Effect probably benign
Transcript: ENSMUST00000060396
AA Change: S142T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000053325
Gene: ENSMUSG00000024259
AA Change: S142T

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 99% (72/73)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933408J17Rik G A 10: 93,589,588 probably benign Het
Actn1 A T 12: 80,192,389 H247Q probably damaging Het
Adgre1 T C 17: 57,410,956 C323R probably damaging Het
Adgrf2 T A 17: 42,710,407 I509F probably damaging Het
Aknad1 A T 3: 108,756,468 T331S probably damaging Het
Aldh1a3 T C 7: 66,422,299 D39G probably benign Het
Alms1 C A 6: 85,667,963 probably benign Het
Ankhd1 T G 18: 36,578,543 probably null Het
Arfgef2 T C 2: 166,881,244 S1535P probably benign Het
BC027072 C T 17: 71,751,647 S345N probably damaging Het
Bicc1 T C 10: 70,930,644 E916G probably damaging Het
Birc2 A T 9: 7,821,179 D381E possibly damaging Het
Btbd11 T A 10: 85,651,611 V981D probably damaging Het
Carnmt1 A G 19: 18,693,711 I316V probably benign Het
Chd6 T A 2: 161,029,876 Y213F possibly damaging Het
Coq7 A T 7: 118,510,148 W226R unknown Het
Cyp2d9 G A 15: 82,454,518 probably null Het
Ddx42 T A 11: 106,245,329 N635K probably damaging Het
Dmtf1 T C 5: 9,129,323 T292A possibly damaging Het
Dnajb8 T C 6: 88,222,875 V131A probably benign Het
Dock6 T C 9: 21,816,333 E1367G possibly damaging Het
Dvl1 T A 4: 155,855,543 Y377* probably null Het
Eif4g3 T A 4: 138,097,318 F278Y probably benign Het
Fancg A T 4: 43,008,787 L150H probably damaging Het
Fastkd5 T C 2: 130,616,194 T159A possibly damaging Het
Fkrp G T 7: 16,810,952 Y328* probably null Het
Fmo3 A T 1: 162,958,305 V372D probably damaging Het
Gm10639 T G 9: 78,304,439 L161R probably damaging Het
Gm12184 A G 11: 48,826,123 I76T probably damaging Het
Gm5065 A T 7: 5,359,834 I155F probably damaging Het
Gtf2h4 C A 17: 35,670,909 G143W probably damaging Het
Hivep2 C A 10: 14,128,969 T437K probably benign Het
Hmcn1 A T 1: 150,773,820 Y638* probably null Het
Ighv11-2 T A 12: 114,048,292 Q101L probably damaging Het
Lipf G T 19: 33,965,525 V78L probably damaging Het
Magi3 T C 3: 104,015,765 E1212G probably benign Het
Mfap5 T C 6: 122,525,989 S75P probably damaging Het
Mn1 C A 5: 111,418,552 H129Q possibly damaging Het
Morc3 A G 16: 93,862,539 probably null Het
Mrc2 G A 11: 105,348,431 probably null Het
Myo5c A G 9: 75,250,436 I224V probably damaging Het
Nupl1 T C 14: 60,223,359 T486A probably benign Het
Olfr1026 A G 2: 85,923,607 Y113C probably damaging Het
Olfr910 T A 9: 38,538,985 V30D probably damaging Het
Parp14 A T 16: 35,858,203 L465Q possibly damaging Het
Plcd3 A T 11: 103,080,400 I110N possibly damaging Het
Prx A G 7: 27,518,243 E862G probably benign Het
Rad50 G A 11: 53,707,185 probably benign Het
Rbm15 A G 3: 107,330,833 S750P probably benign Het
Reln C A 5: 22,344,369 A14S unknown Het
Rph3a T C 5: 120,954,422 Y372C probably damaging Het
Serpine2 T A 1: 79,799,539 H187L possibly damaging Het
Slc11a2 T C 15: 100,401,323 D122G probably damaging Het
Slc25a32 A T 15: 39,096,055 V289E probably damaging Het
Srm A G 4: 148,591,504 probably null Het
Srsf5 A G 12: 80,949,096 D123G probably damaging Het
Stab1 A T 14: 31,154,872 C832S probably damaging Het
Stab2 A C 10: 86,934,840 probably benign Het
Suds3 T C 5: 117,094,953 N282S probably damaging Het
Taar9 A T 10: 24,109,254 V94E probably damaging Het
Taf2 C A 15: 55,052,247 A428S probably benign Het
Tbk1 G T 10: 121,557,259 T462K probably benign Het
Tcaf2 T G 6: 42,629,431 I530L possibly damaging Het
Tigd4 A G 3: 84,593,914 Y46C probably damaging Het
Topors G T 4: 40,261,714 Y523* probably null Het
Tpte T C 8: 22,333,160 probably benign Het
Trpv5 T A 6: 41,674,350 Q254L probably damaging Het
Trpv6 G A 6: 41,624,616 Q457* probably null Het
Ush2a A T 1: 188,267,107 M205L probably benign Het
Vmn1r90 A T 7: 14,561,718 Y152N probably damaging Het
Vmn2r124 T A 17: 18,074,018 V789D probably damaging Het
Vmn2r99 T C 17: 19,378,708 I218T probably damaging Het
Vstm2b T C 7: 40,902,875 V248A probably benign Het
Wnk2 T C 13: 49,071,029 K1019E probably damaging Het
Zfhx4 C T 3: 5,403,358 P2859S probably benign Het
Zfp229 T A 17: 21,745,587 F266Y possibly damaging Het
Zfp616 T A 11: 74,084,268 C454* probably null 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
R1248:Slc25a46 UTSW 18 31609754 missense possibly damaging 0.67
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
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
Z1176:Slc25a46 UTSW 18 31609685 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCTGCTGCTAAACTCTTGG -3'
(R):5'- TCCAGAGTTTAAAACCCCACTTCTC -3'

Sequencing Primer
(F):5'- GCTGCTAAACTCTTGGAACTTAGCAC -3'
(R):5'- CAGCAAAATCCTCTTTACAGTTTTC -3'
Posted On2014-12-04