Incidental Mutation 'R3420:Slc25a17'
ID 267018
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 040638-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.289) question?
Stock # R3420 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 81203122-81244966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 81244901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 11 (V11I)
Ref Sequence ENSEMBL: ENSMUSP00000155823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023039] [ENSMUST00000023040] [ENSMUST00000172107] [ENSMUST00000230309] [ENSMUST00000231140]
AlphaFold O70579
Predicted Effect probably benign
Transcript: ENSMUST00000023039
SMART Domains Protein: ENSMUSP00000023039
Gene: ENSMUSG00000022403

DomainStartEndE-ValueType
PDB:4J8C|B 1 44 6e-25 PDB
low complexity region 52 72 N/A INTRINSIC
TPR 104 137 1.2e1 SMART
TPR 138 171 6.95e-4 SMART
TPR 172 205 4.8e1 SMART
coiled coil region 225 264 N/A INTRINSIC
low complexity region 271 305 N/A INTRINSIC
STI1 312 351 3.37e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000023040
AA Change: V11I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000023040
Gene: ENSMUSG00000022404
AA Change: V11I

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 probably benign
Transcript: ENSMUST00000172107
SMART Domains Protein: ENSMUSP00000130195
Gene: ENSMUSG00000022403

DomainStartEndE-ValueType
PDB:4J8C|B 1 44 6e-25 PDB
low complexity region 52 66 N/A INTRINSIC
low complexity region 71 81 N/A INTRINSIC
TPR 113 146 1.2e1 SMART
TPR 147 180 6.95e-4 SMART
TPR 181 214 4.8e1 SMART
coiled coil region 234 273 N/A INTRINSIC
low complexity region 280 314 N/A INTRINSIC
STI1 321 360 3.37e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229617
Predicted Effect unknown
Transcript: ENSMUST00000230309
AA Change: V10I
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231078
Predicted Effect probably benign
Transcript: ENSMUST00000231140
AA Change: V11I

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
Meta Mutation Damage Score 0.0997 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 A G 6: 34,770,900 (GRCm39) T132A probably benign Het
Amn1 A T 6: 149,070,950 (GRCm39) L196* probably null Het
Ccdc73 A T 2: 104,782,292 (GRCm39) K216M probably null Het
Ccdc73 G A 2: 104,782,293 (GRCm39) probably null Het
Celsr2 A G 3: 108,321,732 (GRCm39) V360A probably benign Het
Ckap5 T A 2: 91,400,597 (GRCm39) W650R probably damaging Het
Cyp2b9 G A 7: 25,909,528 (GRCm39) G432E probably damaging Het
Dclre1b A G 3: 103,715,412 (GRCm39) Y29H probably damaging Het
Enthd1 T C 15: 80,444,225 (GRCm39) D110G probably damaging Het
Grin1 C T 2: 25,193,926 (GRCm39) G390D probably damaging Het
Hoxc6 T A 15: 102,919,327 (GRCm39) W188R probably damaging Het
Kcnip1 A G 11: 33,595,594 (GRCm39) V43A probably damaging Het
Kifap3 T A 1: 163,621,595 (GRCm39) I81N probably damaging Het
Klb G A 5: 65,529,485 (GRCm39) G338S probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Nuak2 A G 1: 132,259,818 (GRCm39) D532G probably benign Het
Or8d1 A G 9: 38,766,621 (GRCm39) K88E possibly damaging Het
Prps2 G A X: 166,165,504 (GRCm39) probably null Het
Prss23 C A 7: 89,159,107 (GRCm39) V321L possibly damaging Het
Psmb2 T C 4: 126,571,630 (GRCm39) M28T probably damaging Het
Ric1 T C 19: 29,544,990 (GRCm39) I230T probably damaging Het
Slc5a4a T C 10: 76,012,407 (GRCm39) V359A probably benign Het
Slco1a5 A T 6: 142,213,964 (GRCm39) D52E possibly damaging Het
Tafa1 C A 6: 96,626,099 (GRCm39) D112E probably damaging Het
Tlr4 A G 4: 66,757,773 (GRCm39) I189V probably benign Het
Washc1 T C 17: 66,424,028 (GRCm39) S247P probably damaging Het
Zdhhc14 T A 17: 5,803,366 (GRCm39) *490R probably null Het
Zfp217 A G 2: 169,961,937 (GRCm39) F130S possibly damaging 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
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
R6727:Slc25a17 UTSW 15 81,222,154 (GRCm39) missense probably benign 0.05
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'- ACTGATAGTCCAGACAGTCTCTG -3'
(R):5'- CGTTCCTGGGCATTTCACAC -3'

Sequencing Primer
(F):5'- CAGACAGTCTCTGGGAAAGTCC -3'
(R):5'- GGGCATTTCACACTCGCC -3'
Posted On 2015-02-18