Incidental Mutation 'R0675:Slc25a46'
ID218619
Institutional Source Beutler Lab
Gene Symbol Slc25a46
Ensembl Gene ENSMUSG00000024259
Gene Namesolute carrier family 25, member 46
Synonyms
MMRRC Submission 038860-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0675 (G1)
Quality Score44
Status Validated
Chromosome18
Chromosomal Location31580168-31609902 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 31609588 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Valine at position 75 (G75V)
Ref Sequence ENSEMBL: ENSMUSP00000053325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060396] [ENSMUST00000164667]
Predicted Effect probably benign
Transcript: ENSMUST00000060396
AA Change: G75V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000053325
Gene: ENSMUSG00000024259
AA Change: G75V

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: N25K
SMART Domains Protein: ENSMUSP00000128772
Gene: ENSMUSG00000092124
AA Change: N25K

DomainStartEndE-ValueType
low complexity region 10 28 N/A INTRINSIC
low complexity region 43 64 N/A INTRINSIC
Meta Mutation Damage Score 0.0613 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 97% (88/91)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001C19Rik T C 17: 47,413,776 E140G probably benign Het
4932431P20Rik T C 7: 29,532,517 noncoding transcript Het
Ablim2 C T 5: 35,866,780 probably benign Het
Aire T C 10: 78,034,493 probably benign Het
Akap12 T C 10: 4,353,315 S42P probably benign Het
Amigo1 T C 3: 108,191,669 probably benign Het
Angptl3 A G 4: 99,033,262 T206A probably benign Het
Ank1 T A 8: 23,110,384 probably benign Het
Ano5 A T 7: 51,574,810 T472S probably damaging Het
Arid3c T C 4: 41,725,958 D215G probably damaging Het
Cd200 T C 16: 45,397,110 I73V probably benign Het
Cd47 T C 16: 49,906,799 I318T possibly damaging Het
Cep290 A G 10: 100,568,813 probably null Het
Cep350 A G 1: 155,959,753 S66P possibly damaging Het
Cfap46 C T 7: 139,676,034 C300Y probably damaging Het
Chd1 T A 17: 15,758,261 probably benign Het
Chd5 C A 4: 152,385,950 T1913K probably benign Het
Clec4b1 A G 6: 123,071,446 Y180C probably damaging Het
Cntnap5c A T 17: 58,034,995 D227V probably damaging Het
Col19a1 C G 1: 24,575,455 probably benign Het
Csmd1 A T 8: 16,158,131 M1270K probably benign Het
Cyp2c66 T A 19: 39,186,616 F487I possibly damaging Het
Dpp8 T C 9: 65,066,502 probably benign Het
Duoxa1 A T 2: 122,306,380 probably benign Het
Edil3 A G 13: 89,177,280 K263E probably damaging Het
Fat2 A G 11: 55,309,209 L1013P probably damaging Het
Fras1 T C 5: 96,667,387 probably benign Het
Gab1 A G 8: 80,769,668 S668P probably damaging Het
Galnt14 T C 17: 73,545,035 T130A probably damaging Het
Gm10192 G A 4: 97,182,872 H99Y unknown Het
Gm5592 A G 7: 41,289,387 T698A possibly damaging Het
Gm6605 C A 7: 38,448,275 noncoding transcript Het
Gsdma3 A G 11: 98,631,191 K149R probably benign Het
Igkv4-71 A G 6: 69,243,427 S29P probably damaging Het
Igsf10 C T 3: 59,328,594 V1389I probably benign Het
Ik T C 18: 36,747,333 probably benign Het
Ino80 G A 2: 119,383,481 P1203S probably damaging Het
Iqsec2 G A X: 152,204,124 E398K possibly damaging Het
Jmjd6 A G 11: 116,840,527 V232A probably damaging Het
Klhdc9 G A 1: 171,360,327 T112M possibly damaging Het
Marcks A G 10: 37,141,185 probably benign Het
Mctp2 T A 7: 72,083,170 T829S probably damaging Het
Mroh2a C A 1: 88,228,380 A78E probably damaging Het
Mroh2a G A 1: 88,250,342 D1053N probably damaging Het
Mtmr14 A T 6: 113,270,647 H518L probably damaging Het
Mum1 T A 10: 80,230,080 V56E probably damaging Het
Myo5c T C 9: 75,278,289 M978T probably benign Het
Nlrc3 T C 16: 3,948,911 I1015V probably benign Het
Nlrp5 C A 7: 23,417,417 Q189K possibly damaging Het
Olfr1082 T C 2: 86,594,079 I250V probably benign Het
Olfr385 A C 11: 73,589,252 L162R probably damaging Het
Olfr583 A G 7: 103,051,702 I135V probably benign Het
Olfr92 G C 17: 37,111,455 L176V probably benign Het
Otof T A 5: 30,382,361 Y1051F probably benign Het
Pcdhb14 C A 18: 37,448,339 T166K possibly damaging Het
Pla2g4e A G 2: 120,200,198 probably benign Het
Polr3gl T C 3: 96,582,155 E20G probably damaging Het
Psmd1 A G 1: 86,082,039 D295G probably benign Het
Ptpn21 C A 12: 98,688,216 A831S probably benign Het
Rd3l T C 12: 111,980,162 D60G probably benign Het
Rif1 GCCACCA GCCA 2: 52,110,324 probably benign Het
Rnf213 A G 11: 119,441,834 D2624G probably benign Het
Sec31a T C 5: 100,393,207 D347G probably damaging Het
Sema4g G A 19: 44,997,587 R289H probably damaging Het
Sema5b C T 16: 35,660,333 T761I probably benign Het
Sept1 A T 7: 127,216,999 F86L probably damaging Het
Shank3 T C 15: 89,531,388 V627A possibly damaging Het
Slc45a2 T A 15: 11,025,778 Y405N probably damaging Het
Spidr T C 16: 16,037,634 E339G probably damaging Het
Sptbn1 A T 11: 30,117,903 H1770Q probably damaging Het
Srgap1 T C 10: 121,792,235 Y944C probably damaging Het
Supt20 C T 3: 54,706,969 T169I probably damaging Het
Tie1 G A 4: 118,479,769 Q587* probably null Het
Tmem214 A G 5: 30,871,825 T203A possibly damaging Het
Tmprss15 C A 16: 78,985,950 S742I probably damaging Het
Zfhx2 A G 14: 55,063,163 V2377A probably damaging Het
Zfp763 G A 17: 33,019,800 H124Y possibly damaging Het
Zfp846 T C 9: 20,593,557 S238P probably benign 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
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
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
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'- TCCTTTCAGGGCAGAGGAC -3'
(R):5'- AGGGCTTCGATGGCCTG -3'
Posted On2014-08-18