Incidental Mutation 'R9645:Pex10'
ID 726198
Institutional Source Beutler Lab
Gene Symbol Pex10
Ensembl Gene ENSMUSG00000029047
Gene Name peroxisomal biogenesis factor 10
Synonyms LOC230983, peroxisome biogenesis factor 10
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R9645 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 155151487-155156863 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 155153264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 111 (L111Q)
Ref Sequence ENSEMBL: ENSMUSP00000099469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103180]
AlphaFold B1AUE5
Predicted Effect probably damaging
Transcript: ENSMUST00000103180
AA Change: L111Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099469
Gene: ENSMUSG00000029047
AA Change: L111Q

DomainStartEndE-ValueType
Pfam:Pex2_Pex12 16 241 2.3e-43 PFAM
low complexity region 248 260 N/A INTRINSIC
RING 271 308 4.48e-7 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit partial neonatal mortality due to respiratory distress, loss of embryonic movement, and prenatal pathology including altered biochemistry, defects in axonal integrity, decreased Schwann cell number, and defects at the neuromuscular junction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T C 5: 138,644,793 (GRCm39) V226A probably benign Het
Acan G T 7: 78,749,653 (GRCm39) V1475F probably benign Het
Acin1 T A 14: 54,901,913 (GRCm39) R626S probably benign Het
Aff3 T C 1: 38,249,121 (GRCm39) K662R probably damaging Het
Ankrd11 C T 8: 123,617,682 (GRCm39) A2057T probably benign Het
Ano9 T G 7: 140,687,388 (GRCm39) N309T probably benign Het
Ap3d1 G A 10: 80,545,062 (GRCm39) S1092L probably benign Het
B4galt7 C T 13: 55,756,556 (GRCm39) H257Y probably damaging Het
BC051665 G T 13: 60,932,545 (GRCm39) Q47K possibly damaging Het
Brip1 A G 11: 85,952,512 (GRCm39) F1090L probably benign Het
Cabin1 A G 10: 75,494,543 (GRCm39) V1612A probably benign Het
Ccar1 A T 10: 62,602,369 (GRCm39) D434E probably benign Het
Ccdc15 T C 9: 37,227,083 (GRCm39) D297G probably benign Het
Celsr3 C A 9: 108,704,691 (GRCm39) Y391* probably null Het
Cfap52 A G 11: 67,837,179 (GRCm39) I194T possibly damaging Het
Ctif T C 18: 75,757,352 (GRCm39) E67G probably benign Het
Cxcr6 T C 9: 123,639,151 (GRCm39) F58L possibly damaging Het
Cyp2c69 T C 19: 39,869,593 (GRCm39) E142G probably damaging Het
Dnah6 T A 6: 73,115,750 (GRCm39) R1549S possibly damaging Het
Duxf3 A T 10: 58,066,803 (GRCm39) H75Q probably benign Het
Ehbp1 A T 11: 22,051,052 (GRCm39) I500N probably damaging Het
F13a1 A T 13: 37,082,154 (GRCm39) S517T probably benign Het
Fbln7 C T 2: 128,719,316 (GRCm39) R38C probably damaging Het
Fn1 T C 1: 71,667,629 (GRCm39) N788S probably benign Het
Foxc1 A T 13: 31,991,882 (GRCm39) E231V probably damaging Het
Gal3st2b T C 1: 93,866,328 (GRCm39) S10P probably damaging Het
Gm6899 G A 11: 26,543,592 (GRCm39) C53Y unknown Het
Hps3 T C 3: 20,084,831 (GRCm39) E119G probably benign Het
Impg2 A G 16: 56,038,767 (GRCm39) E135G probably damaging Het
Kalrn G A 16: 34,032,583 (GRCm39) T1155M probably benign Het
Kcna6 G A 6: 126,716,022 (GRCm39) A289V probably benign Het
Kcnh5 T C 12: 75,134,191 (GRCm39) M453V probably benign Het
Krt222 A G 11: 99,131,320 (GRCm39) V75A possibly damaging Het
Lmtk3 A T 7: 45,450,431 (GRCm39) T1432S unknown Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Ltbp3 C G 19: 5,802,099 (GRCm39) N758K probably damaging Het
Map6d1 T A 16: 20,055,377 (GRCm39) H153L possibly damaging Het
Mefv A G 16: 3,528,782 (GRCm39) L583P probably damaging Het
Mrps28 T C 3: 8,867,389 (GRCm39) T160A probably damaging Het
Mtcl2 T C 2: 156,869,390 (GRCm39) K1082E probably damaging Het
Muc6 T C 7: 141,217,783 (GRCm39) T2297A possibly damaging Het
Mx1 G T 16: 97,253,409 (GRCm39) D338E probably benign Het
Myom1 G A 17: 71,399,204 (GRCm39) R1120H probably benign Het
Nif3l1 T C 1: 58,487,074 (GRCm39) F87L probably benign Het
Or1e35 T A 11: 73,797,713 (GRCm39) M202L probably benign Het
Or4p22 T C 2: 88,317,373 (GRCm39) V99A possibly damaging Het
Phf1 T C 17: 27,154,130 (GRCm39) probably null Het
Pigp A T 16: 94,166,278 (GRCm39) Y143* probably null Het
Pou2af2 A G 9: 51,229,579 (GRCm39) probably null Het
Prrc2a A G 17: 35,381,176 (GRCm39) probably null Het
Psd GCC GC 19: 46,301,841 (GRCm39) probably null Het
Pum3 A G 19: 27,403,412 (GRCm39) S30P probably benign Het
Rab12 A G 17: 66,826,421 (GRCm39) S97P probably damaging Het
Rigi T C 4: 40,220,437 (GRCm39) E482G possibly damaging Het
Ros1 A G 10: 51,948,148 (GRCm39) probably null Het
Scp2 A T 4: 107,948,519 (GRCm39) Y197N probably benign Het
Serpinb10 T C 1: 107,474,488 (GRCm39) F217L possibly damaging Het
Shank3 T G 15: 89,409,453 (GRCm39) M604R possibly damaging Het
Slc22a29 A G 19: 8,184,488 (GRCm39) S238P probably benign Het
Smarcc1 A G 9: 109,986,410 (GRCm39) D237G probably damaging Het
Stag3 T C 5: 138,299,701 (GRCm39) S871P possibly damaging Het
Tmem132d A G 5: 128,346,075 (GRCm39) F149S probably damaging Het
Tmem25 C T 9: 44,706,515 (GRCm39) E333K Het
Togaram1 T A 12: 65,066,082 (GRCm39) Y1695* probably null Het
Tox3 G A 8: 90,984,574 (GRCm39) P202S probably damaging Het
Trim34b T A 7: 103,980,474 (GRCm39) N187K probably benign Het
Vcan A G 13: 89,841,081 (GRCm39) S1488P probably benign Het
Vps26a A C 10: 62,305,791 (GRCm39) V124G probably benign Het
Vps50 T G 6: 3,516,706 (GRCm39) S63A possibly damaging Het
Wbp4 T A 14: 79,707,553 (GRCm39) E186V possibly damaging Het
Zfp52 A G 17: 21,781,937 (GRCm39) D595G possibly damaging Het
Zfr2 C A 10: 81,084,252 (GRCm39) S1* probably null Het
Other mutations in Pex10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02487:Pex10 APN 4 155,155,190 (GRCm39) missense probably damaging 1.00
IGL03179:Pex10 APN 4 155,152,354 (GRCm39) missense probably benign
IGL03014:Pex10 UTSW 4 155,155,076 (GRCm39) intron probably benign
R0088:Pex10 UTSW 4 155,154,955 (GRCm39) missense probably damaging 0.98
R0445:Pex10 UTSW 4 155,153,531 (GRCm39) splice site probably null
R4191:Pex10 UTSW 4 155,152,362 (GRCm39) critical splice donor site probably null
R4544:Pex10 UTSW 4 155,154,952 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACAAGAAGTTGTGCTGGCC -3'
(R):5'- GTCTCAGGATGAAGACTGCC -3'

Sequencing Primer
(F):5'- CGGAAACTTGTCCCTGGAC -3'
(R):5'- AGGATGAAGACTGCCCGCTG -3'
Posted On 2022-09-12