Incidental Mutation 'R5817:Slc25a17'
ID449128
Institutional Source Beutler Lab
Gene Symbol Slc25a17
Ensembl Gene ENSMUSG00000022404
Gene Namesolute carrier family 25 (mitochondrial carrier, peroxisomal membrane protein), member 17
Synonyms34kDa, PMP34
MMRRC Submission 043397-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.211) question?
Stock #R5817 (G1)
Quality Score225
Status Validated
Chromosome15
Chromosomal Location81318911-81360812 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 81327060 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 225 (T225M)
Ref Sequence ENSEMBL: ENSMUSP00000023040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023040] [ENSMUST00000231140]
Predicted Effect probably damaging
Transcript: ENSMUST00000023040
AA Change: T225M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023040
Gene: ENSMUSG00000022404
AA Change: T225M

DomainStartEndE-ValueType
Pfam:Mito_carr 6 97 1e-17 PFAM
Pfam:Mito_carr 97 197 6.3e-24 PFAM
Pfam:Mito_carr 199 297 3.2e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229564
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229617
Predicted Effect silent
Transcript: ENSMUST00000231140
Meta Mutation Damage Score 0.342 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (71/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a peroxisomal membrane protein that belongs to the family of mitochondrial solute carriers. It is expressed in the liver, and is likely involved in transport. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A G 4: 144,622,927 I251M probably benign Het
Abcf3 T C 16: 20,549,083 V63A possibly damaging Het
Agpat4 C T 17: 12,215,210 probably benign Het
Ahcyl2 G A 6: 29,890,721 V292M probably damaging Het
Ahnak2 A T 12: 112,774,003 F406I probably damaging Het
Aqp7 G A 4: 41,035,510 T115I probably benign Het
Arhgef5 G A 6: 43,275,104 D930N probably benign Het
Casc4 T A 2: 121,906,044 S231T probably benign Het
Cc2d2a G A 5: 43,712,418 R887Q probably damaging Het
Ceacam18 A G 7: 43,641,841 T236A probably benign Het
Chst15 A T 7: 132,269,144 Y221N probably damaging Het
Chst15 G A 7: 132,269,147 L220F probably damaging Het
Cntn2 G A 1: 132,518,748 T784I probably benign Het
D630003M21Rik A G 2: 158,196,493 L1011P probably damaging Het
Dync2h1 T A 9: 6,996,905 D3894V probably damaging Het
E330017A01Rik T C 16: 58,636,793 I89V probably benign Het
Fam13b T C 18: 34,457,797 M443V possibly damaging Het
Fam20a T A 11: 109,673,418 Q503L possibly damaging Het
Gm11677 C T 11: 111,724,711 noncoding transcript Het
Gm21319 G T 12: 87,773,431 D119E probably benign Het
Gm5454 T A 13: 103,356,632 noncoding transcript Het
Gm5581 A G 6: 131,167,169 noncoding transcript Het
Gm6619 A G 6: 131,486,437 I6V unknown Het
Gmcl1 A G 6: 86,714,248 M255T probably damaging Het
Gprc5c T A 11: 114,863,624 C42* probably null Het
Hmcn1 T A 1: 150,737,524 E1384V possibly damaging Het
Il6 A G 5: 30,018,008 I91V probably benign Het
Kmt2d A T 15: 98,862,363 S1005T unknown Het
Map1a A T 2: 121,298,910 H143L possibly damaging Het
Mical2 A T 7: 112,323,659 T624S probably benign Het
Msh3 A T 13: 92,286,000 N549K possibly damaging Het
Ncr1 T A 7: 4,340,895 I164N possibly damaging Het
Olfr1333 T G 4: 118,830,099 T115P probably damaging Het
Olfr554 A G 7: 102,640,378 N44S probably damaging Het
Olfr586 A T 7: 103,121,908 M292K possibly damaging Het
Olfr926 A G 9: 38,877,377 D67G probably damaging Het
Palmd T C 3: 116,918,623 I541M probably benign Het
Pcsk7 A T 9: 45,926,033 M552L probably benign Het
Plekhh2 A G 17: 84,571,726 E626G possibly damaging Het
Pole G A 5: 110,312,972 D1176N probably damaging Het
Polr2f T C 15: 79,151,669 I110T probably damaging Het
Pomt1 A T 2: 32,248,679 I436F probably damaging Het
Prag1 A C 8: 36,103,703 Q480P probably damaging Het
Qars C T 9: 108,510,242 probably benign Het
Ralgapa2 G A 2: 146,333,486 S1797L probably damaging Het
Rbm26 T C 14: 105,128,603 T832A probably damaging Het
Rnf169 A G 7: 99,925,769 S540P probably benign Het
Serpini1 T A 3: 75,613,324 M76K probably benign Het
Shq1 A G 6: 100,573,720 L419S probably damaging Het
Slc6a5 C A 7: 49,956,491 L716I probably benign Het
Smc1b A G 15: 85,067,783 V1149A probably damaging Het
Trappc1 A T 11: 69,324,234 Q26L possibly damaging Het
Trpm2 C A 10: 77,965,980 G84W probably damaging Het
Ttn G A 2: 76,742,666 T24215M probably damaging Het
Ubn2 C A 6: 38,479,153 T337K probably damaging Het
Ubr4 A G 4: 139,468,847 K1265E probably damaging Het
Vmn1r214 T G 13: 23,035,321 I328M probably damaging Het
Xcr1 C T 9: 123,855,857 C280Y possibly damaging Het
Zc3h13 A G 14: 75,328,132 E895G probably damaging Het
Other mutations in Slc25a17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01710:Slc25a17 APN 15 81327326 nonsense probably null
IGL02655:Slc25a17 APN 15 81323643 missense probably benign 0.02
IGL03258:Slc25a17 APN 15 81329042 splice site probably benign
big_guy UTSW 15 81360774 utr 5 prime probably benign
R0114:Slc25a17 UTSW 15 81337959 missense probably damaging 1.00
R0763:Slc25a17 UTSW 15 81323706 splice site probably benign
R1628:Slc25a17 UTSW 15 81360724 missense possibly damaging 0.92
R2179:Slc25a17 UTSW 15 81337950 missense probably benign 0.02
R3420:Slc25a17 UTSW 15 81360700 missense probably benign 0.04
R3421:Slc25a17 UTSW 15 81360700 missense probably benign 0.04
R3687:Slc25a17 UTSW 15 81327284 missense probably benign 0.01
R3688:Slc25a17 UTSW 15 81327284 missense probably benign 0.01
R4707:Slc25a17 UTSW 15 81327326 missense probably damaging 0.97
R5617:Slc25a17 UTSW 15 81360774 utr 5 prime probably benign
R5650:Slc25a17 UTSW 15 81329176 splice site probably null
R6207:Slc25a17 UTSW 15 81329064 missense probably damaging 1.00
R6727:Slc25a17 UTSW 15 81337953 missense probably benign 0.05
R7331:Slc25a17 UTSW 15 81329145 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGTCATGCAGAAAGTCAGGC -3'
(R):5'- ACCCTGCCATCCAATTCATG -3'

Sequencing Primer
(F):5'- TCATGCAGAAAGTCAGGCTAAAGC -3'
(R):5'- GGCTTAAAACGGCAGCTTC -3'
Posted On2016-12-20