Mutagenetix > Incidental Mutation

Incidental Mutation 'R9688:Pex12'

728998

Institutional Source

Beutler Lab

Gene Symbol

Pex12

Ensembl Gene

ENSMUSG00000018733

Gene Name

peroxisomal biogenesis factor 12

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

R9688 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83182757-83189849 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83189257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 4 (Y4C)

Ref Sequence

ENSEMBL: ENSMUSP00000018877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018875] [ENSMUST00000018877] [ENSMUST00000065692] [ENSMUST00000108146] [ENSMUST00000136369] [ENSMUST00000142680] [ENSMUST00000175741] [ENSMUST00000176374] [ENSMUST00000176430] [ENSMUST00000176518] [ENSMUST00000176944]

AlphaFold

Q8VC48

Predicted Effect

probably benign
Transcript: ENSMUST00000018875

SMART Domains

Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	10	534	2.6e-173	PFAM
Pfam:HEAT_2	88	157	3.7e-8	PFAM
Pfam:Cnd1	99	268	2.1e-40	PFAM
Pfam:HEAT_2	124	219	1.4e-9	PFAM
low complexity region	625	643	N/A	INTRINSIC
low complexity region	654	675	N/A	INTRINSIC
Alpha_adaptinC2	721	831	2.94e-18	SMART
B2-adapt-app_C	840	950	9.93e-56	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018877
AA Change: Y4C

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000018877
Gene: ENSMUSG00000018733
AA Change: Y4C

Domain	Start	End	E-Value	Type
Pfam:Pex2_Pex12	26	267	3.1e-50	PFAM
RING	304	342	3.14e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000065692

SMART Domains

Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	10	534	4.2e-173	PFAM
Pfam:HEAT_2	88	157	2.7e-8	PFAM
Pfam:Cnd1	99	268	1.5e-37	PFAM
low complexity region	625	643	N/A	INTRINSIC
low complexity region	653	665	N/A	INTRINSIC
Alpha_adaptinC2	707	817	2.94e-18	SMART
B2-adapt-app_C	826	936	9.93e-56	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108146
AA Change: Y4C

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103781
Gene: ENSMUSG00000018733
AA Change: Y4C

Domain	Start	End	E-Value	Type
Pfam:Pex2_Pex12	26	268	6.4e-52	PFAM
RING	304	342	3.14e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000136369
AA Change: Y4C

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000142680

Predicted Effect

possibly damaging
Transcript: ENSMUST00000175741
AA Change: Y4C

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135145
Gene: ENSMUSG00000018733
AA Change: Y4C

Domain	Start	End	E-Value	Type
Pfam:Pex2_Pex12	26	268	6.4e-52	PFAM
RING	304	342	3.14e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176374
AA Change: Y4C

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000176430

SMART Domains

Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	10	534	4e-173	PFAM
Pfam:HEAT_2	88	157	2.8e-8	PFAM
Pfam:Cnd1	99	268	1.5e-37	PFAM
low complexity region	625	643	N/A	INTRINSIC
low complexity region	654	675	N/A	INTRINSIC
Alpha_adaptinC2	721	831	2.94e-18	SMART
B2-adapt-app_C	840	936	7.22e-35	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176518
AA Change: Y4C

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135632
Gene: ENSMUSG00000018733
AA Change: Y4C

Domain	Start	End	E-Value	Type
Pfam:Pex2_Pex12	26	268	6.4e-52	PFAM
RING	304	342	3.14e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176944

SMART Domains

Protein: ENSMUSP00000134798
Gene: ENSMUSG00000035152

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	10	199	3.4e-67	PFAM
Pfam:DNA_alkylation	18	196	4.6e-8	PFAM
Pfam:HEAT_2	88	185	3.1e-13	PFAM
Pfam:Cnd1	99	198	4.2e-27	PFAM
Pfam:HEAT	122	151	1.4e-5	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	G	11: 23,469,067 (GRCm39)		probably null	Het
Abca2	G	C	2: 25,324,459 (GRCm39)	A272P	possibly damaging	Het
Adarb1	T	A	10: 77,147,099 (GRCm39)	D479V	probably damaging	Het
Amz2	T	C	11: 109,320,765 (GRCm39)	F162S	probably damaging	Het
Ano4	A	T	10: 89,180,506 (GRCm39)	M1K	probably null	Het
Antxr1	G	A	6: 87,114,334 (GRCm39)	R478C	probably damaging	Het
Apobr	T	C	7: 126,186,663 (GRCm39)	S725P	probably benign	Het
Arap2	A	T	5: 62,872,109 (GRCm39)	D506E	probably damaging	Het
Ash1l	T	G	3: 88,892,024 (GRCm39)	I1301S	probably damaging	Het
Camk1g	T	A	1: 193,031,029 (GRCm39)	R305W	probably damaging	Het
Ces2g	A	T	8: 105,691,304 (GRCm39)	I147F	probably benign	Het
Cfap61	T	C	2: 145,878,758 (GRCm39)	F505L	probably damaging	Het
Cndp1	G	C	18: 84,655,982 (GRCm39)	N62K	probably benign	Het
Cog6	G	T	3: 52,916,528 (GRCm39)	Q214K	probably benign	Het
Depdc5	T	A	5: 33,055,276 (GRCm39)	Y226*	probably null	Het
Elp5	T	A	11: 69,861,425 (GRCm39)	I185F	probably damaging	Het
Ercc6	A	C	14: 32,297,755 (GRCm39)	H1334P	probably benign	Het
Ern1	T	C	11: 106,349,836 (GRCm39)	T27A	possibly damaging	Het
Esf1	A	T	2: 140,010,095 (GRCm39)	D80E	probably damaging	Het
Evpl	T	C	11: 116,124,986 (GRCm39)	K159E	probably damaging	Het
Gbx1	T	C	5: 24,731,510 (GRCm39)	Y102C	probably damaging	Het
Gjd2	A	G	2: 113,842,109 (GRCm39)	S123P	probably benign	Het
H2-M11	A	G	17: 36,859,054 (GRCm39)	Y198C	probably damaging	Het
Hps1	A	C	19: 42,755,147 (GRCm39)	V265G	probably benign	Het
Ifna16	C	A	4: 88,594,874 (GRCm39)	E74*	probably null	Het
Inca1	C	T	11: 70,579,810 (GRCm39)		probably null	Het
Jag2	A	G	12: 112,872,564 (GRCm39)	V1230A	probably benign	Het
Jam3	G	A	9: 27,010,204 (GRCm39)	T260M	probably benign	Het
Klhl5	A	T	5: 65,321,930 (GRCm39)	D652V	probably damaging	Het
L3mbtl1	A	T	2: 162,790,697 (GRCm39)	I81L	possibly damaging	Het
Lgalsl	C	T	11: 20,779,442 (GRCm39)	A68T	probably benign	Het
Map3k14	T	A	11: 103,130,059 (GRCm39)	D286V	possibly damaging	Het
Mdn1	A	G	4: 32,745,590 (GRCm39)	I4083V	probably damaging	Het
Ms4a5	T	C	19: 11,254,058 (GRCm39)	I136M	possibly damaging	Het
Mtcl3	T	C	10: 29,072,691 (GRCm39)	V661A	possibly damaging	Het
Naa16	A	T	14: 79,573,309 (GRCm39)	Y820*	probably null	Het
Nbea	G	T	3: 55,557,165 (GRCm39)	N2537K	probably benign	Het
Ncapd3	A	G	9: 26,967,349 (GRCm39)	S562G	probably benign	Het
Or5t5	A	C	2: 86,617,005 (GRCm39)	K310N	probably damaging	Het
Or6c1b	C	A	10: 129,272,967 (GRCm39)	C95*	probably null	Het
Pcdhac2	A	G	18: 37,277,628 (GRCm39)	S203G	probably benign	Het
Pds5a	A	T	5: 65,812,196 (GRCm39)	F309I	probably benign	Het
Pdzd8	G	A	19: 59,333,683 (GRCm39)	L113F	probably benign	Het
Ppfibp2	A	G	7: 107,318,448 (GRCm39)	D332G	probably benign	Het
Psg23	A	T	7: 18,344,547 (GRCm39)	W303R	probably damaging	Het
Pyy	T	A	11: 101,998,099 (GRCm39)	D27V	probably damaging	Het
Rc3h1	A	G	1: 160,770,234 (GRCm39)	Q302R	probably damaging	Het
Rhoh	A	G	5: 66,049,656 (GRCm39)		probably benign	Het
Samd9l	A	G	6: 3,377,087 (GRCm39)	M58T	probably damaging	Het
Scaf11	A	C	15: 96,313,808 (GRCm39)	H1324Q	probably damaging	Het
Serinc2	C	A	4: 130,158,133 (GRCm39)	A105S	probably damaging	Het
Setx	A	T	2: 29,036,328 (GRCm39)	S938C	probably damaging	Het
Sgo2a	A	T	1: 58,056,737 (GRCm39)	T974S	probably damaging	Het
Sh3rf1	T	C	8: 61,679,348 (GRCm39)	V130A	probably benign	Het
Slc43a2	T	C	11: 75,434,112 (GRCm39)	F97L	probably damaging	Het
Slc9a9	C	A	9: 95,111,107 (GRCm39)	Q642K	probably benign	Het
Sox6	G	T	7: 115,076,225 (GRCm39)	D804E	probably benign	Het
Tbx15	A	T	3: 99,233,708 (GRCm39)	R290S	possibly damaging	Het
Tent4a	A	G	13: 69,655,199 (GRCm39)	L425P	probably damaging	Het
Terf2	A	G	8: 107,821,543 (GRCm39)	S176P	probably damaging	Het
Ttc6	A	T	12: 57,720,602 (GRCm39)	H956L	possibly damaging	Het
Tti2	T	C	8: 31,644,279 (GRCm39)	V292A	probably damaging	Het
Vmn1r29	A	T	6: 58,284,739 (GRCm39)	E153V	probably benign	Het
Vmn1r55	G	T	7: 5,149,669 (GRCm39)	H251Q	probably benign	Het
Yeats4	T	C	10: 117,051,586 (GRCm39)	T224A	probably benign	Het
Yipf4	T	A	17: 74,806,078 (GRCm39)	F239Y	probably benign	Het
Zan	T	C	5: 137,466,717 (GRCm39)	D380G	probably damaging	Het
Zbtb9	T	C	17: 27,193,894 (GRCm39)	F433S	probably damaging	Het
Zic5	T	C	14: 122,701,435 (GRCm39)	K432R	unknown	Het

Other mutations in Pex12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02992:Pex12	APN	11	83,188,753 (GRCm39)	missense	probably damaging	1.00
BB006:Pex12	UTSW	11	83,188,809 (GRCm39)	missense	probably damaging	1.00
BB016:Pex12	UTSW	11	83,188,809 (GRCm39)	missense	probably damaging	1.00
R0725:Pex12	UTSW	11	83,188,860 (GRCm39)	missense	probably damaging	0.99
R1839:Pex12	UTSW	11	83,188,648 (GRCm39)	missense	probably damaging	0.99
R2483:Pex12	UTSW	11	83,188,455 (GRCm39)	missense	possibly damaging	0.61
R2932:Pex12	UTSW	11	83,187,049 (GRCm39)	missense	probably benign
R5430:Pex12	UTSW	11	83,188,572 (GRCm39)	missense	probably damaging	0.96
R5526:Pex12	UTSW	11	83,187,090 (GRCm39)	missense	possibly damaging	0.62
R7135:Pex12	UTSW	11	83,188,468 (GRCm39)	missense	probably benign
R7929:Pex12	UTSW	11	83,188,809 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCGATCATTGCAAACTTAGGG -3'
(R):5'- AACAGTCCTTACTTTGAGACTCCC -3'

Sequencing Primer
(F):5'- GATCATTGCAAACTTAGGGTTACTAG -3'
(R):5'- CCTCCGCCTCCATATAAGC -3'

Posted On

2022-10-06