Incidental Mutation 'IGL02377:Pex14'
ID 291175
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pex14
Ensembl Gene ENSMUSG00000028975
Gene Name peroxisomal biogenesis factor 14
Synonyms Pex14p
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02377
Quality Score
Status
Chromosome 4
Chromosomal Location 149044992-149184300 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149050743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 174 (Q174R)
Ref Sequence ENSEMBL: ENSMUSP00000099506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103217]
AlphaFold Q9R0A0
Predicted Effect probably benign
Transcript: ENSMUST00000103217
AA Change: Q174R

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000099506
Gene: ENSMUSG00000028975
AA Change: Q174R

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
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A T 11: 119,937,689 (GRCm39) probably benign Het
Abca15 T C 7: 119,965,133 (GRCm39) probably benign Het
App T C 16: 84,879,719 (GRCm39) Q138R probably benign Het
Asah2 T A 19: 31,986,814 (GRCm39) I529F probably benign Het
Atp8b3 A G 10: 80,356,128 (GRCm39) S1195P probably benign Het
Brca1 A G 11: 101,415,149 (GRCm39) M134T probably benign Het
Cacna1s T C 1: 135,996,732 (GRCm39) L111P probably damaging Het
Capns2 A T 8: 93,628,215 (GRCm39) N35Y probably benign Het
Ccne1 A G 7: 37,798,415 (GRCm39) probably null Het
Cfap91 G T 16: 38,153,181 (GRCm39) probably benign Het
Csf1r G T 18: 61,257,540 (GRCm39) probably benign Het
Dipk2b T A X: 18,313,930 (GRCm39) I131F possibly damaging Het
Dlg3 A T X: 99,817,007 (GRCm39) Y326F possibly damaging Het
Dnah8 T C 17: 31,013,770 (GRCm39) V3837A probably damaging Het
Dock10 A G 1: 80,562,711 (GRCm39) probably null Het
Emg1 A G 6: 124,681,620 (GRCm39) V208A probably benign Het
Eml6 T A 11: 29,727,282 (GRCm39) D1280V probably damaging Het
Ep400 T C 5: 110,868,691 (GRCm39) D911G unknown Het
Fam171a1 T C 2: 3,224,623 (GRCm39) probably null Het
Fcgbp T C 7: 27,806,395 (GRCm39) V2121A possibly damaging Het
Fggy G A 4: 95,511,714 (GRCm39) probably benign Het
Fignl1 G T 11: 11,752,845 (GRCm39) T70K possibly damaging Het
Fndc3b T C 3: 27,674,801 (GRCm39) E47G probably damaging Het
Frmd4a A G 2: 4,539,385 (GRCm39) K189E possibly damaging Het
Hpse T A 5: 100,839,199 (GRCm39) Y383F probably damaging Het
Ip6k2 T C 9: 108,681,798 (GRCm39) L197P probably damaging Het
Klf1 A C 8: 85,631,561 (GRCm39) H375P probably damaging Het
Krtap6-5 T A 16: 88,844,734 (GRCm39) probably benign Het
Lacc1 A T 14: 77,267,055 (GRCm39) S403T probably damaging Het
Lama3 A G 18: 12,689,807 (GRCm39) I2850V possibly damaging Het
Lats2 C T 14: 57,929,052 (GRCm39) R941Q probably damaging Het
Lgals3bp A T 11: 118,284,290 (GRCm39) Y430N probably benign Het
Lrig3 A T 10: 125,850,743 (GRCm39) H1103L probably benign Het
Lrrc40 G A 3: 157,742,365 (GRCm39) M1I probably null Het
Magee2 A T X: 103,900,399 (GRCm39) V84D possibly damaging Het
Msantd2 G A 9: 37,434,602 (GRCm39) V281I possibly damaging Het
Mycbpap A G 11: 94,394,076 (GRCm39) V340A probably damaging Het
Myh6 A T 14: 55,181,775 (GRCm39) M1842K probably benign Het
Mylk4 T C 13: 32,906,130 (GRCm39) D145G possibly damaging Het
Nfkbid C T 7: 30,124,689 (GRCm39) Q160* probably null Het
Or11h6 T A 14: 50,879,975 (GRCm39) probably null Het
Or2y1d A T 11: 49,321,859 (GRCm39) K185N probably damaging Het
Or5w1b T A 2: 87,475,630 (GRCm39) Y279F probably damaging Het
Or7e168 C T 9: 19,720,343 (GRCm39) S243F probably damaging Het
Or8c11 A T 9: 38,289,542 (GRCm39) T122S probably damaging Het
Or9q2 T G 19: 13,772,693 (GRCm39) Q94P possibly damaging Het
Pdgfrb A C 18: 61,213,404 (GRCm39) Q916P probably damaging Het
Pogz T C 3: 94,786,321 (GRCm39) S970P probably damaging Het
Potegl T C 2: 23,102,667 (GRCm39) probably benign Het
Rabggta A G 14: 55,955,952 (GRCm39) V165A possibly damaging Het
Rdh10 G A 1: 16,176,438 (GRCm39) W66* probably null Het
Ripor2 T A 13: 24,879,549 (GRCm39) probably benign Het
Slc35g1 T A 19: 38,391,678 (GRCm39) M320K possibly damaging Het
Slc9a7 A G X: 20,068,963 (GRCm39) Y197H probably damaging Het
Smn1 T C 13: 100,272,192 (GRCm39) probably benign Het
Spam1 G A 6: 24,796,696 (GRCm39) G216S probably damaging Het
Spata31 A T 13: 65,068,194 (GRCm39) N114I probably damaging Het
Sptbn1 A T 11: 30,069,491 (GRCm39) V1615D possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Thoc2 T A X: 40,914,355 (GRCm39) Q1005H possibly damaging Het
Thra G A 11: 98,652,742 (GRCm39) R189Q probably damaging Het
Trappc11 A T 8: 47,983,685 (GRCm39) probably null Het
Vps13d G T 4: 144,882,934 (GRCm39) H886Q probably damaging Het
Zfp157 G A 5: 138,445,859 (GRCm39) W71* probably null Het
Other mutations in Pex14
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16