Incidental Mutation 'R5617:Slc25a17'
ID 439602
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 043276-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.289) question?
Stock # R5617 (G1)
Quality Score 212
Status Validated
Chromosome 15
Chromosomal Location 81203122-81244966 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) G to T at 81244975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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: -1
SMART Domains Protein: ENSMUSP00000023040
Gene: ENSMUSG00000022404
AA Change: -1

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 probably benign
Transcript: ENSMUST00000230309
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231078
Predicted Effect probably benign
Transcript: ENSMUST00000231140
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (59/59)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,227,891 (GRCm39) L645F probably benign Het
Acss3 T C 10: 106,787,851 (GRCm39) Y522C probably damaging Het
Asb18 A G 1: 89,882,184 (GRCm39) V118A possibly damaging Het
Aste1 T A 9: 105,275,034 (GRCm39) C8S probably benign Het
Atp10a A G 7: 58,453,423 (GRCm39) S834G probably benign Het
Cdh18 A G 15: 23,226,854 (GRCm39) D105G probably damaging Het
Cenpb T C 2: 131,020,934 (GRCm39) E288G probably damaging Het
Clcnka C T 4: 141,116,628 (GRCm39) G541D probably null Het
Dctn3 T C 4: 41,716,407 (GRCm39) I134V possibly damaging Het
Dennd4b T C 3: 90,182,933 (GRCm39) S917P probably benign Het
Fam135b A T 15: 71,493,865 (GRCm39) D21E probably damaging Het
Fam174a T C 1: 95,241,972 (GRCm39) V144A probably damaging Het
Fbxo38 A G 18: 62,639,042 (GRCm39) Y1087H probably damaging Het
Gm7275 A T 16: 47,894,527 (GRCm39) noncoding transcript Het
Gm9271 G T 7: 39,013,076 (GRCm39) noncoding transcript Het
Grm2 T C 9: 106,528,275 (GRCm39) probably null Het
Htt T A 5: 35,028,150 (GRCm39) V1802D possibly damaging Het
Ighv1-75 C A 12: 115,797,874 (GRCm39) G16V probably benign Het
Krt78 G A 15: 101,856,044 (GRCm39) T589I probably damaging Het
Lama3 T C 18: 12,631,993 (GRCm39) probably benign Het
Lbr A T 1: 181,656,467 (GRCm39) V227D probably benign Het
Lsamp T C 16: 41,954,786 (GRCm39) V211A probably damaging Het
Map3k19 G A 1: 127,750,703 (GRCm39) R883C probably damaging Het
Marchf8 A C 6: 116,380,481 (GRCm39) I111L possibly damaging Het
Mrps10 T A 17: 47,689,167 (GRCm39) M187K probably benign Het
Ncdn G A 4: 126,638,840 (GRCm39) R660C probably damaging Het
Notum A T 11: 120,547,171 (GRCm39) Y332* probably null Het
Nr1h5 A T 3: 102,855,145 (GRCm39) L319I probably damaging Het
Or51q1 A T 7: 103,628,921 (GRCm39) H180L possibly damaging Het
Or8k35 T A 2: 86,424,345 (GRCm39) I276L probably benign Het
Osbpl5 T C 7: 143,246,684 (GRCm39) D765G possibly damaging Het
Parp3 C T 9: 106,351,704 (GRCm39) V170M possibly damaging Het
Pcdh15 A G 10: 74,471,504 (GRCm39) probably benign Het
Pcdha9 T G 18: 37,131,869 (GRCm39) S313A probably benign Het
Pfkm A G 15: 98,020,107 (GRCm39) R201G possibly damaging Het
Pgm5 G A 19: 24,727,765 (GRCm39) R375* probably null Het
Phactr2 A G 10: 13,349,809 (GRCm39) S72P possibly damaging Het
Plaat1 A T 16: 29,039,162 (GRCm39) R81* probably null Het
Plec A G 15: 76,058,732 (GRCm39) L3600P probably damaging Het
Pou6f1 G A 15: 100,483,874 (GRCm39) T208M possibly damaging Het
Rabep1 C T 11: 70,808,355 (GRCm39) S394L probably damaging Het
Ranbp2 T G 10: 58,301,489 (GRCm39) F687C probably damaging Het
Ranbp6 A G 19: 29,789,863 (GRCm39) F163S probably damaging Het
Rcor3 T C 1: 191,804,430 (GRCm39) N240D probably benign Het
Samd13 C A 3: 146,352,065 (GRCm39) K95N probably benign Het
Slfn8 G T 11: 82,895,547 (GRCm39) H420N probably benign Het
Sptbn5 G A 2: 119,876,965 (GRCm39) probably benign Het
Stim2 G A 5: 54,267,075 (GRCm39) E21K probably damaging Het
Tmem163 A G 1: 127,479,067 (GRCm39) Y151H possibly damaging Het
Trio A G 15: 27,902,834 (GRCm39) I209T probably benign Het
Tubal3 T A 13: 3,983,432 (GRCm39) L404H probably damaging Het
Ubqln3 A G 7: 103,791,640 (GRCm39) F150S probably damaging Het
Ubr5 T C 15: 38,030,901 (GRCm39) S425G possibly damaging Het
Vmn2r52 T A 7: 9,904,861 (GRCm39) H326L probably 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
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
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'- TTGTGACAGATTCGGTCCCC -3'
(R):5'- TGCTCAGAACACAGATCCTTC -3'

Sequencing Primer
(F):5'- TGACAGATTCGGTCCCCACATC -3'
(R):5'- TCCATAGCCACTGAGCATTG -3'
Posted On 2016-11-08