Mutagenetix > Incidental Mutation

Incidental Mutation 'R0437:Pex16'

39049

Institutional Source

Beutler Lab

Gene Symbol

Pex16

Ensembl Gene

ENSMUSG00000027222

Gene Name

peroxisomal biogenesis factor 16

Synonyms

peroxisome biogenesis factor 16

MMRRC Submission

038638-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.394) question?

Stock #

R0437 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

92374676-92381217 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 92375592 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 10 (R10L)

Ref Sequence

ENSEMBL: ENSMUSP00000028650 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028650] [ENSMUST00000068586] [ENSMUST00000090582] [ENSMUST00000111284] [ENSMUST00000148352] [ENSMUST00000176289] [ENSMUST00000176774] [ENSMUST00000176339] [ENSMUST00000176810]

AlphaFold

Q91XC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000028650
AA Change: R10L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000028650
Gene: ENSMUSG00000027222
AA Change: R10L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000068586

SMART Domains

Protein: ENSMUSP00000064128
Gene: ENSMUSG00000040434

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	52	63	N/A	INTRINSIC
Pfam:Glyco_transf_8	70	316	4.6e-22	PFAM
low complexity region	392	401	N/A	INTRINSIC
Pfam:Glyco_transf_49	402	469	2.2e-11	PFAM
Pfam:Glyco_transf_49	466	673	1e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090582

SMART Domains

Protein: ENSMUSP00000088070
Gene: ENSMUSG00000040434

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	52	63	N/A	INTRINSIC
Pfam:Glyco_transf_8	70	218	7.2e-9	PFAM
Pfam:Glyco_transf_8	188	281	2.3e-8	PFAM
low complexity region	357	366	N/A	INTRINSIC
Pfam:Glyco_transf_49	367	434	2.1e-11	PFAM
Pfam:Glyco_transf_49	431	638	9.3e-43	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: ENSMUST00000130283

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146311

Predicted Effect

probably benign
Transcript: ENSMUST00000148352

SMART Domains

Protein: ENSMUSP00000135451
Gene: ENSMUSG00000040434

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	52	63	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175740

Predicted Effect

probably benign
Transcript: ENSMUST00000176289

SMART Domains

Protein: ENSMUSP00000135118
Gene: ENSMUSG00000040434

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	52	63	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176774

SMART Domains

Protein: ENSMUSP00000135400
Gene: ENSMUSG00000040434

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	52	63	N/A	INTRINSIC
Pfam:Glyco_transf_8	71	317	3.9e-22	PFAM
low complexity region	393	402	N/A	INTRINSIC
Pfam:Glyco_transf_49	403	470	1.6e-11	PFAM
Pfam:Glyco_transf_49	467	674	7.4e-43	PFAM

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176810

SMART Domains

Protein: ENSMUSP00000135024
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	101	342	4.2e-20	PFAM
low complexity region	417	426	N/A	INTRINSIC
Pfam:Glyco_transf_49	427	493	1.3e-13	PFAM
Pfam:Glyco_transf_49	489	698	2.8e-46	PFAM

Meta Mutation Damage Score

0.6638

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (104/104)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	G	A	13: 119,470,095 (GRCm38)	R291K	probably benign	Het
Abca2	T	C	2: 25,442,845 (GRCm38)	S1519P	probably damaging	Het
Abcb11	G	A	2: 69,257,295 (GRCm38)	A1042V	probably damaging	Het
Abcc10	G	T	17: 46,312,920 (GRCm38)		probably benign	Het
Abcc10	A	T	17: 46,312,919 (GRCm38)		probably null	Het
Alkbh3	A	C	2: 93,981,569 (GRCm38)	L240V	probably damaging	Het
Apol10b	T	C	15: 77,585,408 (GRCm38)	S190G	probably benign	Het
Atp1a3	C	A	7: 24,998,967 (GRCm38)	C135F	probably benign	Het
Atp4a	C	G	7: 30,720,101 (GRCm38)	R659G	probably benign	Het
Bicra	A	G	7: 15,988,762 (GRCm38)	S277P	possibly damaging	Het
Bltp1	A	T	3: 36,989,804 (GRCm38)	H2820L	possibly damaging	Het
Bmp8a	T	C	4: 123,316,897 (GRCm38)	E275G	probably benign	Het
Ccdc102a	T	C	8: 94,913,426 (GRCm38)	E80G	probably damaging	Het
Cdh23	T	C	10: 60,410,797 (GRCm38)	D954G	probably damaging	Het
Chrm4	A	G	2: 91,928,443 (GRCm38)	T399A	possibly damaging	Het
Clcn3	A	G	8: 60,934,537 (GRCm38)	V199A	possibly damaging	Het
Crlf1	T	C	8: 70,499,514 (GRCm38)		probably null	Het
Crx	G	T	7: 15,871,146 (GRCm38)	S57*	probably null	Het
Cstpp1	A	G	2: 91,421,953 (GRCm38)	L21P	probably damaging	Het
Cyp4f16	A	G	17: 32,537,098 (GRCm38)	I34V	possibly damaging	Het
Daxx	T	C	17: 33,913,624 (GRCm38)	V576A	probably benign	Het
Ddx17	C	T	15: 79,537,471 (GRCm38)	R351H	probably damaging	Het
Dhx38	T	C	8: 109,558,629 (GRCm38)		probably benign	Het
Dnd1	T	C	18: 36,764,499 (GRCm38)		probably benign	Het
Dync1i2	A	T	2: 71,227,825 (GRCm38)		probably null	Het
E2f6	T	C	12: 16,816,445 (GRCm38)	S52P	probably benign	Het
Epb41l4a	A	G	18: 33,880,273 (GRCm38)	F116S	probably damaging	Het
Ext1	T	C	15: 53,106,106 (GRCm38)	N362S	probably damaging	Het
Fam227a	C	A	15: 79,643,988 (GRCm38)	K79N	possibly damaging	Het
Fam228a	T	A	12: 4,732,759 (GRCm38)	L111F	probably damaging	Het
Fat2	T	C	11: 55,282,799 (GRCm38)	T2363A	probably benign	Het
Fat3	A	T	9: 15,996,932 (GRCm38)	N2591K	probably damaging	Het
Frem2	A	G	3: 53,653,015 (GRCm38)	M1357T	possibly damaging	Het
Frmd4b	A	T	6: 97,423,463 (GRCm38)	V29D	probably damaging	Het
G930045G22Rik	A	G	6: 50,846,938 (GRCm38)		noncoding transcript	Het
Galnt3	A	G	2: 66,107,229 (GRCm38)	S46P	possibly damaging	Het
Gmeb2	A	G	2: 181,253,973 (GRCm38)	V468A	possibly damaging	Het
Herc2	C	T	7: 56,219,815 (GRCm38)	R4271*	probably null	Het
Il5	C	A	11: 53,723,906 (GRCm38)		probably benign	Het
Ints9	G	A	14: 64,986,369 (GRCm38)		probably benign	Het
Itga10	T	C	3: 96,649,137 (GRCm38)	F196S	probably damaging	Het
Itgb3bp	T	C	4: 99,781,889 (GRCm38)	T138A	probably damaging	Het
Kcnd1	G	A	X: 7,824,683 (GRCm38)	V281M	probably benign	Het
Lcp2	T	C	11: 34,087,229 (GRCm38)	L391P	probably benign	Het
Lrrc66	T	C	5: 73,607,687 (GRCm38)	Y671C	probably benign	Het
Mettl23	T	C	11: 116,849,294 (GRCm38)	V197A	possibly damaging	Het
Mmp15	C	A	8: 95,370,772 (GRCm38)	D456E	probably benign	Het
Mospd4	T	C	18: 46,465,781 (GRCm38)		noncoding transcript	Het
Mov10l1	C	A	15: 89,005,312 (GRCm38)	H484N	probably damaging	Het
Mphosph9	T	C	5: 124,315,568 (GRCm38)	Q197R	probably benign	Het
Ms4a1	T	A	19: 11,256,569 (GRCm38)		probably null	Het
Mybbp1a	T	C	11: 72,448,848 (GRCm38)	V919A	possibly damaging	Het
Mycbpap	A	T	11: 94,513,512 (GRCm38)		probably benign	Het
Naip6	G	A	13: 100,296,924 (GRCm38)	S1135F	possibly damaging	Het
Ndufc2	T	A	7: 97,400,337 (GRCm38)	M50K	probably benign	Het
Npr2	T	C	4: 43,648,082 (GRCm38)	V842A	probably damaging	Het
Ntsr2	G	T	12: 16,653,695 (GRCm38)	G66W	probably damaging	Het
Obscn	T	C	11: 58,995,088 (GRCm38)		probably benign	Het
Optn	C	T	2: 5,024,115 (GRCm38)	G526R	probably damaging	Het
Or4c11	T	A	2: 88,864,885 (GRCm38)	N93K	probably benign	Het
Or4c114	T	A	2: 89,074,612 (GRCm38)	I160F	probably benign	Het
Or6c33	T	C	10: 130,018,096 (GRCm38)	V245A	probably damaging	Het
Or6k14	G	A	1: 174,100,399 (GRCm38)	G314R	probably benign	Het
Otud4	T	A	8: 79,669,997 (GRCm38)	H628Q	probably benign	Het
Padi6	T	C	4: 140,728,929 (GRCm38)	T585A	probably benign	Het
Pitpnm2	A	G	5: 124,131,089 (GRCm38)		probably benign	Het
Pom121l2	A	G	13: 21,983,205 (GRCm38)	T549A	possibly damaging	Het
Prdm15	A	T	16: 97,812,559 (GRCm38)	M470K	probably benign	Het
Prkag2	T	A	5: 25,028,505 (GRCm38)	D49V	possibly damaging	Het
Prl3c1	A	G	13: 27,199,464 (GRCm38)	M38V	probably benign	Het
Prpf18	T	A	2: 4,643,761 (GRCm38)	I85F	possibly damaging	Het
Psg27	A	G	7: 18,560,711 (GRCm38)		probably benign	Het
Relt	A	G	7: 100,848,784 (GRCm38)		probably benign	Het
Rskr	T	C	11: 78,291,536 (GRCm38)	L57P	probably benign	Het
Serpina3b	A	T	12: 104,130,670 (GRCm38)	N70I	probably damaging	Het
Slc19a3	T	C	1: 83,022,565 (GRCm38)	S244G	probably benign	Het
Slc39a5	T	C	10: 128,399,847 (GRCm38)	T81A	possibly damaging	Het
Slc7a2	G	A	8: 40,904,526 (GRCm38)	G277D	probably damaging	Het
Slc9c1	C	T	16: 45,599,887 (GRCm38)		probably benign	Het
Slx1b	A	G	7: 126,692,581 (GRCm38)	F104L	probably benign	Het
Smg6	G	A	11: 74,929,701 (GRCm38)	S266N	probably damaging	Het
Spata9	T	C	13: 75,998,495 (GRCm38)	V162A	possibly damaging	Het
Szrd1	T	C	4: 141,118,744 (GRCm38)	I47V	probably benign	Het
Tha1	G	T	11: 117,868,575 (GRCm38)	L363M	probably benign	Het
Tmc6	G	A	11: 117,778,261 (GRCm38)	T89I	possibly damaging	Het
Tmem132d	C	T	5: 127,789,785 (GRCm38)	G684R	probably damaging	Het
Trim55	G	A	3: 19,670,978 (GRCm38)	G220S	probably benign	Het
Ttn	A	G	2: 76,770,530 (GRCm38)	L18836P	probably damaging	Het
Ubn1	G	T	16: 5,072,184 (GRCm38)		probably benign	Het
Ush2a	T	G	1: 188,911,031 (GRCm38)	W4197G	probably benign	Het
Vmn1r189	A	T	13: 22,102,061 (GRCm38)	V202E	probably damaging	Het
Vmn1r209	T	C	13: 22,806,356 (GRCm38)	I55V	probably benign	Het
Vmn2r86	A	T	10: 130,446,543 (GRCm38)	C735S	probably damaging	Het
Vwf	A	T	6: 125,566,318 (GRCm38)	D174V	probably damaging	Het
Zfp438	T	C	18: 5,214,910 (GRCm38)	N16S	probably damaging	Het
Zfp444	C	T	7: 6,189,409 (GRCm38)	T142I	probably benign	Het
Zfp804a	A	G	2: 82,053,791 (GRCm38)	M1V	probably null	Het
Zfp936	T	G	7: 43,189,310 (GRCm38)	I67S	probably benign	Het
Zfp948	A	T	17: 21,586,998 (GRCm38)	N151Y	unknown	Het

Other mutations in Pex16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Pex16	APN	2	92,379,235 (GRCm38)	missense	probably benign	0.01
IGL01733:Pex16	APN	2	92,378,828 (GRCm38)	missense	probably damaging	1.00
IGL02642:Pex16	APN	2	92,376,636 (GRCm38)	missense	probably damaging	1.00
IGL03350:Pex16	APN	2	92,377,497 (GRCm38)	missense	probably damaging	0.97
R0143:Pex16	UTSW	2	92,380,457 (GRCm38)	missense	probably damaging	1.00
R0226:Pex16	UTSW	2	92,375,687 (GRCm38)	unclassified	probably benign
R0278:Pex16	UTSW	2	92,381,056 (GRCm38)	missense	probably damaging	1.00
R0375:Pex16	UTSW	2	92,380,457 (GRCm38)	missense	probably damaging	1.00
R0540:Pex16	UTSW	2	92,375,637 (GRCm38)	nonsense	probably null
R4809:Pex16	UTSW	2	92,376,638 (GRCm38)	missense	probably damaging	1.00
R4841:Pex16	UTSW	2	92,379,199 (GRCm38)	splice site	probably null
R4952:Pex16	UTSW	2	92,379,060 (GRCm38)	nonsense	probably null
R5382:Pex16	UTSW	2	92,377,530 (GRCm38)	missense	possibly damaging	0.85
R8144:Pex16	UTSW	2	92,375,640 (GRCm38)	missense	probably damaging	1.00
R8810:Pex16	UTSW	2	92,379,021 (GRCm38)	unclassified	probably benign
R9511:Pex16	UTSW	2	92,379,214 (GRCm38)	critical splice acceptor site	probably null
R9712:Pex16	UTSW	2	92,376,643 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTAGTATGAACTGTTCAGCCTGCCC -3'
(R):5'- AGTTTCCTCTACGCCACAGGAACC -3'

Sequencing Primer
(F):5'- TCTAGAGAGCTTCAGGGCG -3'
(R):5'- GAACTGAAGCACCGCGAC -3'

Posted On

2013-05-23