Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02642:Pex16'

301773

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pex16

Ensembl Gene

ENSMUSG00000027222

Gene Name

peroxisomal biogenesis factor 16

Synonyms

peroxisome biogenesis factor 16

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.411) question?

Stock #

IGL02642

Quality Score

Status

Chromosome

Chromosomal Location

92205021-92211562 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 92206981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 53 (A53V)

Ref Sequence

ENSEMBL: ENSMUSP00000028650 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028650] [ENSMUST00000111284] [ENSMUST00000176339]

AlphaFold

Q91XC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000028650
AA Change: A53V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028650
Gene: ENSMUSG00000027222
AA Change: A53V

Domain	Start	End	E-Value	Type
Pfam:Pex16	9	329	1.3e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111284

SMART Domains

Protein: ENSMUSP00000106915
Gene: ENSMUSG00000040434

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	77	88	N/A	INTRINSIC
Pfam:Glyco_transf_8	97	341	8.9e-22	PFAM
low complexity region	417	426	N/A	INTRINSIC
Pfam:Glyco_transf_49	427	494	6.5e-11	PFAM
Pfam:Glyco_transf_49	491	698	3.1e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124428

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155891

Predicted Effect

probably benign
Transcript: ENSMUST00000176339

SMART Domains

Protein: ENSMUSP00000135619
Gene: ENSMUSG00000040434

Domain	Start	End	E-Value	Type
transmembrane domain	31	50	N/A	INTRINSIC
low complexity region	74	85	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	T	C	3: 153,644,720 (GRCm39)	D68G	probably damaging	Het
Amer3	A	G	1: 34,625,761 (GRCm39)		probably benign	Het
Ankrd11	A	G	8: 123,617,390 (GRCm39)	L2133P	probably damaging	Het
Bcdin3d	G	T	15: 99,368,673 (GRCm39)	H175Q	probably damaging	Het
Brd8	C	A	18: 34,741,117 (GRCm39)		probably benign	Het
C1rl	C	A	6: 124,470,806 (GRCm39)	T38N	possibly damaging	Het
Cd160	T	C	3: 96,707,927 (GRCm39)	T140A	probably benign	Het
Cdk16	T	G	X: 20,563,167 (GRCm39)	D381E	probably benign	Het
Cpq	G	A	15: 33,381,546 (GRCm39)	G303D	probably damaging	Het
Dmp1	T	C	5: 104,359,536 (GRCm39)	S71P	probably damaging	Het
Enc1	A	C	13: 97,382,042 (GRCm39)	D184A	possibly damaging	Het
Enkur	T	C	2: 21,199,198 (GRCm39)	D112G	probably benign	Het
Esrra	A	T	19: 6,890,218 (GRCm39)	V59E	possibly damaging	Het
F830016B08Rik	A	G	18: 60,433,058 (GRCm39)	N47S	probably benign	Het
Fads1	T	A	19: 10,163,785 (GRCm39)	V189D	probably damaging	Het
Fam167a	T	A	14: 63,689,721 (GRCm39)	I6N	probably damaging	Het
Fam98b	A	G	2: 117,090,793 (GRCm39)	T164A	probably benign	Het
Fhip2a	A	G	19: 57,373,782 (GRCm39)	N681D	possibly damaging	Het
Fryl	T	A	5: 73,252,809 (GRCm39)	I953L	probably benign	Het
Gm10610	T	A	7: 83,198,813 (GRCm39)		noncoding transcript	Het
Grik5	G	T	7: 24,758,408 (GRCm39)	N338K	possibly damaging	Het
Gstt2	A	G	10: 75,668,652 (GRCm39)	I72T	probably benign	Het
Gusb	T	C	5: 130,029,376 (GRCm39)		probably null	Het
Hccs	A	G	X: 168,098,588 (GRCm39)		probably benign	Het
Hoxb4	A	G	11: 96,211,050 (GRCm39)	K217E	probably damaging	Het
Hpd	C	T	5: 123,319,503 (GRCm39)	V22I	possibly damaging	Het
Ighv1-47	A	G	12: 114,954,844 (GRCm39)	Y79H	probably damaging	Het
Il7r	C	A	15: 9,513,133 (GRCm39)		probably benign	Het
Lama1	A	T	17: 68,119,361 (GRCm39)	M2613L	probably benign	Het
Lama2	G	A	10: 27,343,269 (GRCm39)	H68Y	probably damaging	Het
Lce1c	C	A	3: 92,587,845 (GRCm39)		probably benign	Het
Lmx1a	G	T	1: 167,672,192 (GRCm39)		probably benign	Het
Lrfn1	T	C	7: 28,158,113 (GRCm39)		probably benign	Het
Lrriq1	T	A	10: 103,057,322 (GRCm39)		probably null	Het
Mri1	A	T	8: 84,983,702 (GRCm39)	L63Q	probably damaging	Het
Mrps11	G	T	7: 78,438,522 (GRCm39)		probably null	Het
Mtif2	C	A	11: 29,494,395 (GRCm39)	Q666K	probably benign	Het
Mtr	A	T	13: 12,210,118 (GRCm39)		probably benign	Het
Mug1	A	G	6: 121,859,544 (GRCm39)	N1181S	probably benign	Het
Myom1	A	T	17: 71,408,093 (GRCm39)	E1209V	possibly damaging	Het
Nhsl1	A	G	10: 18,284,138 (GRCm39)	I26M	possibly damaging	Het
Nlrp1a	T	A	11: 71,014,358 (GRCm39)	K297N	probably benign	Het
Obox5	T	C	7: 15,491,972 (GRCm39)	V129A	probably benign	Het
Pfpl	T	C	19: 12,407,107 (GRCm39)	F453L	probably damaging	Het
Pip5k1b	G	T	19: 24,323,731 (GRCm39)	H406N	probably benign	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Plcxd3	T	C	15: 4,546,122 (GRCm39)	F42S	possibly damaging	Het
Pnpla7	T	C	2: 24,940,288 (GRCm39)	F1056L	probably benign	Het
Rapgef1	T	C	2: 29,590,872 (GRCm39)		probably benign	Het
Rdh11	G	A	12: 79,232,110 (GRCm39)		probably benign	Het
Serac1	A	G	17: 6,096,021 (GRCm39)	F576S	possibly damaging	Het
Slc45a4	A	T	15: 73,458,664 (GRCm39)	M295K	probably benign	Het
Taf1c	T	C	8: 120,325,796 (GRCm39)	T689A	probably benign	Het
Timm10b	G	T	7: 105,317,645 (GRCm39)		probably benign	Het
Tle5	A	T	10: 81,397,126 (GRCm39)	Q34L	possibly damaging	Het
Tnc	A	T	4: 63,883,816 (GRCm39)		probably benign	Het
Toporsl	T	C	4: 52,611,114 (GRCm39)	W336R	probably benign	Het
Usp54	C	A	14: 20,615,140 (GRCm39)		probably benign	Het
Vmn1r233	T	C	17: 21,214,291 (GRCm39)	R220G	probably damaging	Het

Other mutations in Pex16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Pex16	APN	2	92,209,580 (GRCm39)	missense	probably benign	0.01
IGL01733:Pex16	APN	2	92,209,173 (GRCm39)	missense	probably damaging	1.00
IGL03350:Pex16	APN	2	92,207,842 (GRCm39)	missense	probably damaging	0.97
R0143:Pex16	UTSW	2	92,210,802 (GRCm39)	missense	probably damaging	1.00
R0226:Pex16	UTSW	2	92,206,032 (GRCm39)	unclassified	probably benign
R0278:Pex16	UTSW	2	92,211,401 (GRCm39)	missense	probably damaging	1.00
R0375:Pex16	UTSW	2	92,210,802 (GRCm39)	missense	probably damaging	1.00
R0437:Pex16	UTSW	2	92,205,937 (GRCm39)	missense	probably damaging	1.00
R0540:Pex16	UTSW	2	92,205,982 (GRCm39)	nonsense	probably null
R4809:Pex16	UTSW	2	92,206,983 (GRCm39)	missense	probably damaging	1.00
R4841:Pex16	UTSW	2	92,209,544 (GRCm39)	splice site	probably null
R4952:Pex16	UTSW	2	92,209,405 (GRCm39)	nonsense	probably null
R5382:Pex16	UTSW	2	92,207,875 (GRCm39)	missense	possibly damaging	0.85
R8144:Pex16	UTSW	2	92,205,985 (GRCm39)	missense	probably damaging	1.00
R8810:Pex16	UTSW	2	92,209,366 (GRCm39)	unclassified	probably benign
R9511:Pex16	UTSW	2	92,209,559 (GRCm39)	critical splice acceptor site	probably null
R9712:Pex16	UTSW	2	92,206,988 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16