Mutagenetix > Incidental Mutation

Incidental Mutation 'R5526:Pex12'

431868

Institutional Source

Beutler Lab

Gene Symbol

Pex12

Ensembl Gene

ENSMUSG00000018733

Gene Name

peroxisomal biogenesis factor 12

Synonyms

MMRRC Submission

043084-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R5526 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83182757-83189849 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83187090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 286 (V286A)

Ref Sequence

ENSEMBL: ENSMUSP00000135632 (fasta)

Gene Model

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

AlphaFold

Q8VC48

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018877
AA Change: V286A

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000018877
Gene: ENSMUSG00000018733
AA Change: V286A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083781

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108146
AA Change: V286A

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103781
Gene: ENSMUSG00000018733
AA Change: V286A

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: ENSMUST00000136369

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153487

Predicted Effect

possibly damaging
Transcript: ENSMUST00000175741
AA Change: V286A

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135145
Gene: ENSMUSG00000018733
AA Change: V286A

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: ENSMUST00000176016

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176518
AA Change: V286A

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135632
Gene: ENSMUSG00000018733
AA Change: V286A

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: ENSMUST00000177150

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177248

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176545

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177533

Predicted Effect

probably benign
Transcript: ENSMUST00000176374

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: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.7%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,331,605 (GRCm39)	M1315K	probably benign	Het
Abcc4	C	T	14: 118,868,449 (GRCm39)	V168I	probably benign	Het
Add3	T	A	19: 53,215,038 (GRCm39)	L71Q	probably damaging	Het
Agbl5	G	A	5: 31,051,247 (GRCm39)		probably null	Het
Angpt1	A	G	15: 42,375,737 (GRCm39)	L173P	probably damaging	Het
Crls1	T	A	2: 132,703,165 (GRCm39)	M205K	possibly damaging	Het
Cspg4b	T	C	13: 113,504,427 (GRCm39)	V1852A	probably benign	Het
Dhtkd1	A	T	2: 5,916,662 (GRCm39)	N671K	probably damaging	Het
Dmbt1	A	T	7: 130,642,920 (GRCm39)	D246V	probably damaging	Het
Dolk	G	A	2: 30,175,820 (GRCm39)	A75V	probably damaging	Het
Dtna	T	A	18: 23,779,287 (GRCm39)	V623E	probably damaging	Het
Elavl3	T	C	9: 21,947,622 (GRCm39)	T106A	probably benign	Het
Ergic1	T	C	17: 26,843,652 (GRCm39)	C41R	probably damaging	Het
Fat2	T	A	11: 55,160,187 (GRCm39)	I3309F	possibly damaging	Het
Fbn1	C	A	2: 125,207,559 (GRCm39)	R978L	possibly damaging	Het
Fzd6	A	T	15: 38,894,559 (GRCm39)	S242C	possibly damaging	Het
Galntl6	T	A	8: 58,926,004 (GRCm39)	H87L	probably benign	Het
Gatad2a	T	C	8: 70,388,591 (GRCm39)	E32G	probably damaging	Het
Gemin6	T	G	17: 80,535,178 (GRCm39)	V46G	probably damaging	Het
Gm11541	G	T	11: 94,594,944 (GRCm39)	H41Q	unknown	Het
Has3	A	G	8: 107,600,579 (GRCm39)	T14A	probably damaging	Het
Kmt2b	A	G	7: 30,279,869 (GRCm39)	L1377P	probably damaging	Het
Lcorl	T	C	5: 45,891,069 (GRCm39)	N428S	probably benign	Het
Lipo5	A	T	19: 33,445,284 (GRCm39)	V95D	unknown	Het
Lrp1	A	T	10: 127,391,593 (GRCm39)	V2942D	probably benign	Het
Map1a	T	C	2: 121,136,143 (GRCm39)	S2082P	probably damaging	Het
Mast4	T	C	13: 102,890,723 (GRCm39)	S852G	possibly damaging	Het
Mlh3	A	T	12: 85,316,147 (GRCm39)	L13*	probably null	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Nlrp9c	T	A	7: 26,081,791 (GRCm39)	N645I	possibly damaging	Het
Or12d17	T	A	17: 37,778,003 (GRCm39)	L302Q	unknown	Het
Or12e7	T	C	2: 87,288,109 (GRCm39)	I200T	probably benign	Het
Or14j7	T	A	17: 38,235,383 (GRCm39)	*309K	probably null	Het
Or7e166	C	A	9: 19,624,994 (GRCm39)	Y290*	probably null	Het
Or8g52	A	T	9: 39,630,892 (GRCm39)	Y123F	possibly damaging	Het
Phax	C	T	18: 56,717,382 (GRCm39)	T275I	probably damaging	Het
Phf21b	A	G	15: 84,676,006 (GRCm39)	V335A	probably benign	Het
Psg18	A	T	7: 18,083,273 (GRCm39)	L173H	probably damaging	Het
Rab3ip	T	C	10: 116,754,834 (GRCm39)	T209A	possibly damaging	Het
Ralgapb	T	C	2: 158,274,705 (GRCm39)	V202A	probably damaging	Het
Rpn2	T	C	2: 157,165,187 (GRCm39)	L611P	probably damaging	Het
Runx2	T	G	17: 45,035,749 (GRCm39)	T148P	probably damaging	Het
Sbpl	C	A	17: 24,173,623 (GRCm39)	D50Y	probably damaging	Het
Scn5a	G	A	9: 119,350,237 (GRCm39)	P879L	probably damaging	Het
Sfn	T	C	4: 133,328,915 (GRCm39)	R56G	probably damaging	Het
Spata31g1	T	C	4: 42,972,125 (GRCm39)	V486A	possibly damaging	Het
Tas2r138	C	T	6: 40,589,914 (GRCm39)	A111T	probably benign	Het
Tasp1	A	T	2: 139,850,709 (GRCm39)	S105T	probably damaging	Het
Tmem225	T	G	9: 40,062,002 (GRCm39)	H205Q	possibly damaging	Het
Tmprss7	A	G	16: 45,481,267 (GRCm39)	S640P	probably damaging	Het
Utp4	G	A	8: 107,644,265 (GRCm39)	A535T	possibly damaging	Het
Vmn1r203	A	T	13: 22,708,273 (GRCm39)	D18V	probably benign	Het
Vmn2r58	A	G	7: 41,522,069 (GRCm39)	L9P	probably benign	Het
Zcchc2	T	A	1: 105,957,984 (GRCm39)	C420*	probably null	Het
Zfp804a	A	G	2: 82,088,934 (GRCm39)	D921G	probably benign	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
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'- CTGGACTTCTGTTGGATACCC -3'
(R):5'- ATCAAGTGTGGAACTGCACC -3'

Sequencing Primer
(F):5'- ACTTCTGTTGGATACCCTGTAATG -3'
(R):5'- TGTGGAACTGCACCTATAGAC -3'

Posted On

2016-10-05