Incidental Mutation 'R6727:Slc25a17'
ID 529927
Institutional Source Beutler Lab
Gene Symbol Slc25a17
Ensembl Gene ENSMUSG00000022404
Gene Name solute carrier family 25 (mitochondrial carrier, peroxisomal membrane protein), member 17
Synonyms PMP34, 34kDa
MMRRC Submission 044845-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.269) question?
Stock # R6727 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 81203122-81244966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81222154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 106 (V106A)
Ref Sequence ENSEMBL: ENSMUSP00000155823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023040] [ENSMUST00000230309] [ENSMUST00000231140]
AlphaFold O70579
Predicted Effect probably benign
Transcript: ENSMUST00000023040
AA Change: V106A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000023040
Gene: ENSMUSG00000022404
AA Change: V106A

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: ENSMUST00000229617
Predicted Effect probably benign
Transcript: ENSMUST00000230309
Predicted Effect probably benign
Transcript: ENSMUST00000230983
Predicted Effect probably benign
Transcript: ENSMUST00000231140
AA Change: V106A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.1%
Validation Efficiency 98% (44/45)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010109A12Rik A G 5: 93,354,434 (GRCm39) probably benign Het
4930563M21Rik C T 9: 55,896,760 (GRCm39) V283I possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Allc T A 12: 28,607,388 (GRCm39) H288L probably damaging Het
Atg16l1 T C 1: 87,702,576 (GRCm39) I279T possibly damaging Het
Atp6v1b1 A G 6: 83,728,857 (GRCm39) probably benign Het
Barhl1 G A 2: 28,805,495 (GRCm39) P66L probably benign Het
Brd8dc T A 18: 34,713,894 (GRCm39) M244L probably benign Het
Cfap58 A T 19: 47,943,856 (GRCm39) D352V probably benign Het
Cyp3a44 T A 5: 145,731,781 (GRCm39) K122* probably null Het
Dnai1 G T 4: 41,625,308 (GRCm39) R424L probably benign Het
Dync1li2 G T 8: 105,167,167 (GRCm39) H79Q probably damaging Het
Fem1b A G 9: 62,704,015 (GRCm39) V415A possibly damaging Het
Fgb C T 3: 82,954,094 (GRCm39) S48N possibly damaging Het
Gm5624 T C 14: 44,799,332 (GRCm39) D31G possibly damaging Het
Gzmn T A 14: 56,403,432 (GRCm39) I226F probably damaging Het
H2-T5 A T 17: 36,476,622 (GRCm39) V284E probably damaging Het
Il31ra T C 13: 112,683,902 (GRCm39) S184G probably damaging Het
Insrr C T 3: 87,720,873 (GRCm39) R1044C probably damaging Het
Kcnj15 A G 16: 95,097,193 (GRCm39) S272G probably damaging Het
Kcnk16 C T 14: 20,312,997 (GRCm39) A106T probably benign Het
Kmt2b A G 7: 30,283,984 (GRCm39) V876A probably damaging Het
Large2 G T 2: 92,201,215 (GRCm39) probably benign Het
Maml2 A T 9: 13,532,847 (GRCm39) probably benign Het
Me1 A G 9: 86,464,851 (GRCm39) L533P possibly damaging Het
Muc16 A G 9: 18,477,986 (GRCm39) probably null Het
Nova2 C A 7: 18,692,419 (GRCm39) T516K probably damaging Het
Or1l4 T A 2: 37,092,118 (GRCm39) N288K probably damaging Het
Or56b1 T C 7: 104,285,094 (GRCm39) I71T probably damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Ppp2r1a T A 17: 21,176,087 (GRCm39) V103E probably benign Het
Prl3d3 G A 13: 27,341,147 (GRCm39) probably null Het
Rhbdf1 G T 11: 32,164,042 (GRCm39) A288E possibly damaging Het
Rnf213 T C 11: 119,321,147 (GRCm39) S1202P possibly damaging Het
Slc4a4 T G 5: 89,318,624 (GRCm39) S640A probably benign Het
Smc4 T A 3: 68,924,105 (GRCm39) Y298N probably damaging Het
Tek G T 4: 94,741,732 (GRCm39) G830* probably null Het
Tgfb1 A T 7: 25,388,587 (GRCm39) probably benign Het
Themis T C 10: 28,657,903 (GRCm39) I157T probably damaging Het
Trmt12 A G 15: 58,744,514 (GRCm39) probably benign Het
Trrap T C 5: 144,793,760 (GRCm39) W3654R probably damaging Het
Tspan3 C T 9: 56,054,724 (GRCm39) G108S probably damaging Het
Ugt1a10 T A 1: 87,983,979 (GRCm39) probably null Het
Vps13b A G 15: 35,770,829 (GRCm39) K2091E probably benign Het
Wdr62 A T 7: 29,971,045 (GRCm39) V184D probably damaging Het
Zfp958 C A 8: 4,678,247 (GRCm39) Q90K probably benign Het
Other mutations in Slc25a17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01710:Slc25a17 APN 15 81,211,527 (GRCm39) nonsense probably null
IGL02655:Slc25a17 APN 15 81,207,844 (GRCm39) missense probably benign 0.02
IGL03258:Slc25a17 APN 15 81,213,243 (GRCm39) splice site probably benign
Acquisitive UTSW 15 81,211,485 (GRCm39) missense probably benign 0.01
big_guy UTSW 15 81,244,975 (GRCm39) utr 5 prime probably benign
grubbing UTSW 15 81,213,346 (GRCm39) missense probably damaging 1.00
R0114:Slc25a17 UTSW 15 81,222,160 (GRCm39) missense probably damaging 1.00
R0763:Slc25a17 UTSW 15 81,207,907 (GRCm39) splice site probably benign
R1628:Slc25a17 UTSW 15 81,244,925 (GRCm39) missense possibly damaging 0.92
R2179:Slc25a17 UTSW 15 81,222,151 (GRCm39) missense probably benign 0.02
R3420:Slc25a17 UTSW 15 81,244,901 (GRCm39) missense probably benign 0.04
R3421:Slc25a17 UTSW 15 81,244,901 (GRCm39) missense probably benign 0.04
R3687:Slc25a17 UTSW 15 81,211,485 (GRCm39) missense probably benign 0.01
R3688:Slc25a17 UTSW 15 81,211,485 (GRCm39) missense probably benign 0.01
R4707:Slc25a17 UTSW 15 81,211,527 (GRCm39) missense probably damaging 0.97
R5617:Slc25a17 UTSW 15 81,244,975 (GRCm39) utr 5 prime probably benign
R5650:Slc25a17 UTSW 15 81,213,377 (GRCm39) splice site probably null
R5817:Slc25a17 UTSW 15 81,211,261 (GRCm39) missense probably damaging 0.97
R6207:Slc25a17 UTSW 15 81,213,265 (GRCm39) missense probably damaging 1.00
R7331:Slc25a17 UTSW 15 81,213,346 (GRCm39) missense probably damaging 1.00
R8101:Slc25a17 UTSW 15 81,222,248 (GRCm39) missense probably damaging 1.00
R9276:Slc25a17 UTSW 15 81,207,814 (GRCm39) missense probably benign 0.37
R9703:Slc25a17 UTSW 15 81,224,193 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGCTACACAGAGAAACCCTG -3'
(R):5'- GCCCATGGCTTTTGTTCATG -3'

Sequencing Primer
(F):5'- GAGAAACCCTGTCTCAAAAATACC -3'
(R):5'- CATGGCTTTTGTTCATGATCTTTAC -3'
Posted On 2018-08-01