Incidental Mutation 'R1508:Pex14'
ID 168054
Institutional Source Beutler Lab
Gene Symbol Pex14
Ensembl Gene ENSMUSG00000028975
Gene Name peroxisomal biogenesis factor 14
Synonyms Pex14p
MMRRC Submission 040869-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1508 (G1)
Quality Score 218
Status Not validated
Chromosome 4
Chromosomal Location 149044992-149184300 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149052029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 147 (R147G)
Ref Sequence ENSEMBL: ENSMUSP00000099506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103217]
AlphaFold Q9R0A0
Predicted Effect probably damaging
Transcript: ENSMUST00000103217
AA Change: R147G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099506
Gene: ENSMUSG00000028975
AA Change: R147G

DomainStartEndE-ValueType
Pfam:Pex14_N 25 135 9.8e-25 PFAM
coiled coil region 163 198 N/A INTRINSIC
low complexity region 247 262 N/A INTRINSIC
low complexity region 265 275 N/A INTRINSIC
low complexity region 316 341 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145143
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153443
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous disruption of this locus results in embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl4 T C 4: 111,513,595 (GRCm39) I447T probably benign Het
Albfm1 A G 5: 90,729,780 (GRCm39) E401G probably benign Het
Alpk2 C A 18: 65,482,376 (GRCm39) G544V probably damaging Het
Apob T C 12: 8,061,481 (GRCm39) I3321T possibly damaging Het
Ccdc47 C T 11: 106,093,242 (GRCm39) D70N probably damaging Het
Ceacam13 T A 7: 17,744,996 (GRCm39) V22D possibly damaging Het
Cep76 A G 18: 67,756,358 (GRCm39) M491T probably damaging Het
Clec4a3 A T 6: 122,944,467 (GRCm39) N171I probably benign Het
Col20a1 A G 2: 180,634,370 (GRCm39) I112V probably damaging Het
Col4a4 A T 1: 82,433,557 (GRCm39) L1462H unknown Het
Cubn A G 2: 13,431,916 (GRCm39) F1226L probably benign Het
Cyp4a31 T A 4: 115,422,250 (GRCm39) I77K possibly damaging Het
Dcaf1 A T 9: 106,731,376 (GRCm39) T618S probably damaging Het
Echdc3 A T 2: 6,211,231 (GRCm39) S129T probably benign Het
Efcab3 T C 11: 104,601,503 (GRCm39) V272A probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fat1 T C 8: 45,479,899 (GRCm39) F2982L probably benign Het
Gm9476 A T 10: 100,142,700 (GRCm39) noncoding transcript Het
Golga1 A G 2: 38,913,261 (GRCm39) M542T probably benign Het
H2-D1 T A 17: 35,482,844 (GRCm39) C125S probably damaging Het
Jazf1 G A 6: 52,789,166 (GRCm39) H103Y probably damaging Het
Klhl12 T C 1: 134,416,712 (GRCm39) V478A possibly damaging Het
Lpcat2b A T 5: 107,581,330 (GRCm39) T220S probably damaging Het
Myocd C T 11: 65,075,342 (GRCm39) C594Y probably damaging Het
Nf1 A G 11: 79,331,735 (GRCm39) E700G probably damaging Het
Or52z15 T C 7: 103,332,678 (GRCm39) V251A possibly damaging Het
Or6k2 T A 1: 173,986,930 (GRCm39) M197K possibly damaging Het
Papln A G 12: 83,829,690 (GRCm39) Q937R probably damaging Het
Plppr3 A T 10: 79,703,374 (GRCm39) Y37N probably damaging Het
Polr1b A G 2: 128,955,654 (GRCm39) T522A probably benign Het
Ppp3cb T C 14: 20,574,492 (GRCm39) N201S probably damaging Het
Prf1 A G 10: 61,139,329 (GRCm39) D429G probably damaging Het
Ptprn2 T C 12: 117,148,342 (GRCm39) S701P probably damaging Het
Rp1l1 C T 14: 64,268,341 (GRCm39) T1309I possibly damaging Het
Sipa1l1 T A 12: 82,487,667 (GRCm39) M1647K probably damaging Het
Skint11 T C 4: 114,088,963 (GRCm39) probably null Het
Slc8a2 T C 7: 15,874,522 (GRCm39) Y257H probably benign Het
Slfn1 T A 11: 83,012,181 (GRCm39) I99N probably damaging Het
Slit2 A G 5: 48,349,591 (GRCm39) T282A probably damaging Het
Slit3 A T 11: 35,461,448 (GRCm39) D228V probably damaging Het
Specc1l A G 10: 75,143,072 (GRCm39) N1031S probably benign Het
Supt6 A G 11: 78,107,029 (GRCm39) probably null Het
Tdrd1 G A 19: 56,839,790 (GRCm39) E617K probably damaging Het
Tex15 C G 8: 34,066,880 (GRCm39) F2103L probably damaging Het
Trim21 T A 7: 102,208,783 (GRCm39) Q312L possibly damaging Het
Trim56 C T 5: 137,142,791 (GRCm39) A242T probably benign Het
Usp4 T C 9: 108,249,873 (GRCm39) V467A probably benign Het
Vmn2r65 T A 7: 84,589,886 (GRCm39) I677L probably benign Het
Vstm4 T C 14: 32,585,511 (GRCm39) V26A probably damaging Het
Zbtb14 C G 17: 69,694,759 (GRCm39) I152M probably benign Het
Zfat T A 15: 68,050,600 (GRCm39) K807I probably damaging Het
Other mutations in Pex14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02377:Pex14 APN 4 149,050,743 (GRCm39) missense probably benign 0.24
R0563:Pex14 UTSW 4 149,046,003 (GRCm39) missense possibly damaging 0.75
R1435:Pex14 UTSW 4 149,047,984 (GRCm39) missense probably benign 0.30
R2844:Pex14 UTSW 4 149,047,968 (GRCm39) missense probably benign 0.02
R4204:Pex14 UTSW 4 149,047,984 (GRCm39) missense probably benign 0.30
R4433:Pex14 UTSW 4 149,045,967 (GRCm39) missense possibly damaging 0.93
R4563:Pex14 UTSW 4 149,126,225 (GRCm39) missense probably damaging 1.00
R4584:Pex14 UTSW 4 149,055,053 (GRCm39) missense probably damaging 0.99
R4587:Pex14 UTSW 4 149,048,021 (GRCm39) intron probably benign
R4667:Pex14 UTSW 4 149,068,542 (GRCm39) missense probably benign 0.00
R5646:Pex14 UTSW 4 149,045,910 (GRCm39) missense probably benign 0.00
R6175:Pex14 UTSW 4 149,046,156 (GRCm39) missense probably benign 0.19
X0025:Pex14 UTSW 4 149,115,740 (GRCm39) splice site probably benign
Predicted Primers PCR Primer
(F):5'- AAATGACGGCGGCTTCATTTGC -3'
(R):5'- TTAGCTCAGAGACGCTGCTTGC -3'

Sequencing Primer
(F):5'- CAAATGTGAACAGATTCTCAGAGC -3'
(R):5'- CAGGTGGAAGTTCTTACCAGGC -3'
Posted On 2014-04-13