Mutagenetix > Incidental Mutation

Incidental Mutation 'R4433:Pex14'

328692

Institutional Source

Beutler Lab

Gene Symbol

Pex14

Ensembl Gene

ENSMUSG00000028975

Gene Name

peroxisomal biogenesis factor 14

Synonyms

Pex14p

MMRRC Submission

041147-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

149044992-149184300 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 149045967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 321 (E321G)

Ref Sequence

ENSEMBL: ENSMUSP00000099506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103217]

AlphaFold

Q9R0A0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103217
AA Change: E321G

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099506
Gene: ENSMUSG00000028975
AA Change: E321G

Domain	Start	End	E-Value	Type
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

0.0587

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

98% (59/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,186,937 (GRCm39)		probably null	Het
Acsm2	A	G	7: 119,153,732 (GRCm39)	H14R	unknown	Het
Adamtsl4	T	C	3: 95,589,069 (GRCm39)		probably null	Het
Ak5	A	G	3: 152,361,517 (GRCm39)	I135T	probably damaging	Het
Alk	G	T	17: 72,206,236 (GRCm39)	S1038*	probably null	Het
Ank2	A	T	3: 126,741,455 (GRCm39)		probably benign	Het
Ap2m1	A	T	16: 20,362,134 (GRCm39)	H414L	possibly damaging	Het
Atp13a5	A	T	16: 29,100,842 (GRCm39)	M649K	probably damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Calhm6	T	A	10: 34,003,827 (GRCm39)	T27S	probably damaging	Het
Cdc25b	A	G	2: 131,033,618 (GRCm39)	S186G	probably benign	Het
Ceacam16	A	G	7: 19,587,514 (GRCm39)	V418A	possibly damaging	Het
Cntnap3	A	C	13: 64,926,667 (GRCm39)	S568A	possibly damaging	Het
Col24a1	G	T	3: 145,020,144 (GRCm39)	V172F	possibly damaging	Het
Dynlt4	C	T	4: 116,985,320 (GRCm39)	R48C	probably damaging	Het
Eef2	CCC	CCCC	10: 81,014,602 (GRCm39)		probably null	Het
Esp36	T	A	17: 38,729,847 (GRCm39)	T15S	unknown	Het
Fat2	A	T	11: 55,200,466 (GRCm39)	H869Q	possibly damaging	Het
Fat3	A	G	9: 15,942,448 (GRCm39)	V1308A	probably damaging	Het
Gimap3	T	C	6: 48,742,880 (GRCm39)	T17A	possibly damaging	Het
Hnrnpr	A	G	4: 136,044,459 (GRCm39)	K13R	probably benign	Het
Hycc1	A	C	5: 24,184,579 (GRCm39)	C218G	possibly damaging	Het
Kdr	A	G	5: 76,104,585 (GRCm39)	M1133T	possibly damaging	Het
Mgarp	A	G	3: 51,303,681 (GRCm39)		probably benign	Het
Neto2	G	A	8: 86,367,712 (GRCm39)	T337I	probably damaging	Het
Nfib	C	T	4: 82,416,672 (GRCm39)	R137Q	probably damaging	Het
Nherf4	T	C	9: 44,159,285 (GRCm39)	*499W	probably null	Het
Nr3c2	A	G	8: 77,944,096 (GRCm39)	E890G	probably damaging	Het
Nsun4	A	G	4: 115,897,327 (GRCm39)	V228A	possibly damaging	Het
Nt5c1a	T	A	4: 123,109,689 (GRCm39)	S263T	probably benign	Het
Ntm	A	T	9: 28,923,516 (GRCm39)	Y45*	probably null	Het
Nts	A	G	10: 102,320,888 (GRCm39)	V67A	probably benign	Het
Or1e19	A	T	11: 73,316,537 (GRCm39)	S91T	possibly damaging	Het
Or1e25	A	G	11: 73,493,712 (GRCm39)	Y102C	probably damaging	Het
Or4g7	T	A	2: 111,309,757 (GRCm39)	C209*	probably null	Het
Or51ag1	T	A	7: 103,155,346 (GRCm39)	K269M	probably benign	Het
Ostm1	C	A	10: 42,555,119 (GRCm39)	A47E	probably benign	Het
Otol1	G	A	3: 69,925,881 (GRCm39)	V19M	probably benign	Het
Pcdhb15	A	G	18: 37,608,565 (GRCm39)	N599S	probably damaging	Het
Pcdhgb1	T	C	18: 37,814,304 (GRCm39)	I265T	probably damaging	Het
Phactr3	C	A	2: 177,924,925 (GRCm39)	R251S	probably damaging	Het
Pkdcc	C	T	17: 83,528,570 (GRCm39)	T313M	probably benign	Het
Plce1	A	T	19: 38,755,745 (GRCm39)	E1911V	probably damaging	Het
Ptprv	G	T	1: 135,042,308 (GRCm39)		noncoding transcript	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rhob	A	G	12: 8,549,533 (GRCm39)	Y34H	possibly damaging	Het
Slc27a3	G	A	3: 90,294,647 (GRCm39)	T408M	probably damaging	Het
Slc9c1	A	T	16: 45,419,829 (GRCm39)	I1000F	possibly damaging	Het
Tcf7	G	T	11: 52,152,442 (GRCm39)	P36T	probably benign	Het
Tcf7l1	C	G	6: 72,765,752 (GRCm39)	E62Q	probably damaging	Het
Tll2	A	G	19: 41,109,787 (GRCm39)	S326P	probably benign	Het
Tubgcp4	A	G	2: 121,014,954 (GRCm39)	N288S	probably benign	Het
Zfhx3	G	A	8: 109,682,269 (GRCm39)	R3236H	unknown	Het
Zfp764l1	T	G	7: 126,992,174 (GRCm39)	Q87P	possibly damaging	Het
Zgrf1	A	G	3: 127,355,727 (GRCm39)	T318A	probably benign	Het

Other mutations in Pex14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AGTCTCGCTCAGTCTCATTG -3'
(R):5'- ATCCCAGTGAAGTCTTCATCAC -3'

Sequencing Primer
(F):5'- ATTGCTGGCACCTTCCGG -3'
(R):5'- AGCAGTGACATCTCCCCTG -3'

Posted On

2015-07-21