Mutagenetix > Incidental Mutation

Incidental Mutation 'R0725:Pex12'

63660

Institutional Source

Beutler Lab

Gene Symbol

Pex12

Ensembl Gene

ENSMUSG00000018733

Gene Name

peroxisomal biogenesis factor 12

Synonyms

MMRRC Submission

038907-MU

Accession Numbers

Essential gene?

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

Stock #

R0725 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

83182757-83189849 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 83188860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 45 (A45E)

Ref Sequence

ENSEMBL: ENSMUSP00000135632 (fasta)

Gene Model

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

probably damaging
Transcript: ENSMUST00000018877
AA Change: A45E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000018877
Gene: ENSMUSG00000018733
AA Change: A45E

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

noncoding transcript
Transcript: ENSMUST00000083781

Predicted Effect

probably damaging
Transcript: ENSMUST00000108146
AA Change: A45E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103781
Gene: ENSMUSG00000018733
AA Change: A45E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132178

Predicted Effect

probably benign
Transcript: ENSMUST00000136369

Predicted Effect

probably damaging
Transcript: ENSMUST00000176518
AA Change: A45E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135632
Gene: ENSMUSG00000018733
AA Change: A45E

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 damaging
Transcript: ENSMUST00000175741
AA Change: A45E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135145
Gene: ENSMUSG00000018733
AA Change: A45E

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 damaging
Transcript: ENSMUST00000176374
AA Change: A45E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177150

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176545

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177533

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153487

Predicted Effect

probably benign
Transcript: ENSMUST00000142680

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

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

Meta Mutation Damage Score

0.4953

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.7%

Validation Efficiency

100% (70/70)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asph	C	T	4: 9,542,275 (GRCm39)	D305N	probably damaging	Het
Atp13a3	T	C	16: 30,170,205 (GRCm39)	K327R	probably damaging	Het
Cacna1s	T	C	1: 136,026,264 (GRCm39)		probably benign	Het
Ccnk	T	C	12: 108,161,834 (GRCm39)		probably benign	Het
Cep55	T	C	19: 38,048,622 (GRCm39)	S93P	possibly damaging	Het
Cfap300	A	T	9: 8,027,144 (GRCm39)	D131E	probably damaging	Het
Cfh	A	G	1: 140,085,081 (GRCm39)		probably benign	Het
Clptm1l	A	G	13: 73,754,462 (GRCm39)	T129A	probably benign	Het
Cntnap5a	A	G	1: 116,220,206 (GRCm39)	E672G	probably benign	Het
Cpped1	C	A	16: 11,646,314 (GRCm39)	W170L	probably damaging	Het
Crygb	T	C	1: 65,121,100 (GRCm39)	I76V	probably benign	Het
Cyp3a25	A	G	5: 145,931,746 (GRCm39)	S121P	probably damaging	Het
Cyp4b1	T	C	4: 115,484,024 (GRCm39)	D395G	probably damaging	Het
Dll4	T	C	2: 119,163,170 (GRCm39)	V597A	probably damaging	Het
Dock7	T	C	4: 98,833,528 (GRCm39)	D1891G	probably damaging	Het
Dsel	T	C	1: 111,787,682 (GRCm39)	D951G	possibly damaging	Het
Dync2h1	C	A	9: 7,015,497 (GRCm39)	V3603F	possibly damaging	Het
Fam167b	C	A	4: 129,472,078 (GRCm39)	A31S	probably damaging	Het
Fgfrl1	T	A	5: 108,852,539 (GRCm39)	I25N	probably damaging	Het
Gzf1	C	T	2: 148,526,569 (GRCm39)	R347*	probably null	Het
Heatr5b	T	A	17: 79,103,825 (GRCm39)	I1117F	probably benign	Het
Kntc1	T	C	5: 123,907,767 (GRCm39)	V456A	possibly damaging	Het
Macc1	C	A	12: 119,411,251 (GRCm39)	S673*	probably null	Het
Mpp4	T	C	1: 59,160,581 (GRCm39)	E574G	probably damaging	Het
Muc20	C	T	16: 32,613,858 (GRCm39)	M506I	probably benign	Het
Ncbp1	A	G	4: 46,152,056 (GRCm39)	T218A	probably benign	Het
Nfxl1	A	T	5: 72,716,473 (GRCm39)	V46E	probably benign	Het
Nfyc	G	T	4: 120,625,931 (GRCm39)		probably benign	Het
Niban1	A	G	1: 151,581,766 (GRCm39)	E454G	probably benign	Het
Or51f5	T	A	7: 102,423,739 (GRCm39)	S3T	probably benign	Het
Or8g55	A	T	9: 39,784,643 (GRCm39)	Q24L	probably damaging	Het
Osbpl8	T	C	10: 111,122,101 (GRCm39)	F681S	possibly damaging	Het
Pcm1	G	C	8: 41,740,848 (GRCm39)	E1031D	probably damaging	Het
Pdcd11	A	G	19: 47,115,730 (GRCm39)	E1486G	probably benign	Het
Pheta1	T	A	5: 121,991,314 (GRCm39)	H225Q	probably benign	Het
Pigm	A	G	1: 172,204,384 (GRCm39)	D40G	probably damaging	Het
Pkp1	G	T	1: 135,808,478 (GRCm39)	N496K	probably benign	Het
Psmc4	T	C	7: 27,748,287 (GRCm39)	I54V	probably benign	Het
Rbm33	T	C	5: 28,599,481 (GRCm39)	V951A	unknown	Het
Selenbp2	G	T	3: 94,604,809 (GRCm39)		probably benign	Het
Slc3a1	G	A	17: 85,368,263 (GRCm39)	W510*	probably null	Het
Stx12	A	C	4: 132,584,701 (GRCm39)		probably benign	Het
Tas2r125	G	T	6: 132,887,085 (GRCm39)	D158Y	probably benign	Het
Tchp	C	A	5: 114,857,682 (GRCm39)	Q392K	probably benign	Het
Tmed11	T	A	5: 108,926,855 (GRCm39)	D139V	probably damaging	Het
Ttn	C	T	2: 76,578,654 (GRCm39)	V24080M	probably damaging	Het
Ush2a	G	A	1: 188,683,722 (GRCm39)	G4967D	probably damaging	Het
Vezf1	T	C	11: 87,964,156 (GRCm39)	S103P	probably benign	Het
Xpnpep3	T	C	15: 81,315,043 (GRCm39)	S248P	probably damaging	Het
Yipf2	G	C	9: 21,503,519 (GRCm39)		probably null	Het
Zfp110	A	T	7: 12,570,290 (GRCm39)	Q39L	possibly damaging	Het
Zfp287	A	T	11: 62,605,039 (GRCm39)	C623S	probably damaging	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
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
R9688:Pex12	UTSW	11	83,189,257 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- GGCAGATTTCCAGAGGTGTTCCTTG -3'
(R):5'- AGTTTAATGACAGCAGTGAGACCCG -3'

Sequencing Primer
(F):5'- TTCCTTGGGAAGACCAGCAC -3'
(R):5'- GTATCCAGGACTTAATGGGCATCC -3'

Posted On

2013-07-30