Incidental Mutation 'R2844:Pex14'
ID 251422
Institutional Source Beutler Lab
Gene Symbol Pex14
Ensembl Gene ENSMUSG00000028975
Gene Name peroxisomal biogenesis factor 14
Synonyms Pex14p
MMRRC Submission 040437-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2844 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 149044992-149184300 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 149047968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 203 (I203N)
Ref Sequence ENSEMBL: ENSMUSP00000099506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103217]
AlphaFold Q9R0A0
Predicted Effect probably benign
Transcript: ENSMUST00000103217
AA Change: I203N

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000099506
Gene: ENSMUSG00000028975
AA Change: I203N

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
Meta Mutation Damage Score 0.0777 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 98% (42/43)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 G A 3: 59,843,830 (GRCm39) V175I probably benign Het
Abcb1a A T 5: 8,736,164 (GRCm39) I186F probably benign Het
Afg3l1 T C 8: 124,221,678 (GRCm39) probably benign Het
Atg4a G A X: 139,893,589 (GRCm39) E106K probably benign Het
Ccdc50 A G 16: 27,225,479 (GRCm39) E64G probably damaging Het
Celsr3 G T 9: 108,706,507 (GRCm39) G997W probably damaging Het
Chd8 C T 14: 52,441,952 (GRCm39) E2138K possibly damaging Het
Col19a1 C T 1: 24,598,762 (GRCm39) G77E unknown Het
Dnaaf11 A G 15: 66,319,525 (GRCm39) probably benign Het
Fhad1 G T 4: 141,632,279 (GRCm39) Q1287K probably benign Het
Fzr1 G T 10: 81,205,252 (GRCm39) T159K probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gna13 T C 11: 109,253,951 (GRCm39) I51T probably damaging Het
Gorab A G 1: 163,224,375 (GRCm39) probably null Het
Hydin T C 8: 111,245,746 (GRCm39) V2153A probably benign Het
Ints6 A G 14: 62,942,275 (GRCm39) V486A probably damaging Het
Irx2 A G 13: 72,779,709 (GRCm39) K331R probably damaging Het
Mark2 T C 19: 7,264,227 (GRCm39) E116G probably damaging Het
Med14 A T X: 12,550,235 (GRCm39) H684Q probably benign Het
Or1e25 A T 11: 73,494,209 (GRCm39) T268S probably benign Het
Pde5a T C 3: 122,645,357 (GRCm39) L755P probably damaging Het
Pi4ka T C 16: 17,168,657 (GRCm39) E691G probably damaging Het
Plekha1 G T 7: 130,510,095 (GRCm39) W280C probably damaging Het
Pnoc A T 14: 65,642,284 (GRCm39) F160I probably damaging Het
Ppfia3 C A 7: 45,005,852 (GRCm39) R348L probably damaging Het
Ppil6 A T 10: 41,377,689 (GRCm39) probably benign Het
Psmd13 C A 7: 140,477,653 (GRCm39) probably benign Het
Psme4 T C 11: 30,795,173 (GRCm39) probably benign Het
Rfx3 T C 19: 27,784,186 (GRCm39) probably benign Het
Rnase11 A G 14: 51,287,227 (GRCm39) L109S probably damaging Het
Rngtt A G 4: 33,368,678 (GRCm39) T404A probably benign Het
Sbf1 A G 15: 89,187,421 (GRCm39) probably null Het
Sema5b A G 16: 35,480,301 (GRCm39) N656S probably damaging Het
Ssh3 T C 19: 4,315,324 (GRCm39) Y338C probably damaging Het
Tgfbr3l A G 8: 4,299,280 (GRCm39) D49G probably damaging Het
Thbs1 C T 2: 117,948,109 (GRCm39) T423I probably benign Het
Ttc17 A T 2: 94,206,419 (GRCm39) Y243* probably null Het
Zbtb8os A T 4: 129,235,309 (GRCm39) E54D probably damaging Het
Zfp648 A T 1: 154,080,881 (GRCm39) K347* probably null Het
Zfp84 T G 7: 29,474,758 (GRCm39) probably null 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
R1508:Pex14 UTSW 4 149,052,029 (GRCm39) missense probably damaging 1.00
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'- TCATCTTCCAGCTCAGTGAGG -3'
(R):5'- TTAGCACCACCAGCAGTCAG -3'

Sequencing Primer
(F):5'- AGCTCAGTGAGGGGTCC -3'
(R):5'- ACCACCAGCAGTCAGAGGTTG -3'
Posted On 2014-12-04