Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01527:Pex13'

89616

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pex13

Ensembl Gene

ENSMUSG00000020283

Gene Name

peroxisomal biogenesis factor 13

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01527

Quality Score

Status

Chromosome

Chromosomal Location

23646479-23665959 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23656111 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 40 (T40A)

Ref Sequence

ENSEMBL: ENSMUSP00000020523 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020523] [ENSMUST00000130811]

PDB Structure

Solution structure of the SH3 domain of mouse peroxisomal biogenesis factor 13 [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000020523
AA Change: T40A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020523
Gene: ENSMUSG00000020283
AA Change: T40A

Domain	Start	End	E-Value	Type
low complexity region	5	11	N/A	INTRINSIC
low complexity region	18	30	N/A	INTRINSIC
Pfam:Peroxin-13_N	101	256	3.6e-51	PFAM
SH3	277	337	1.42e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124839

Predicted Effect

probably benign
Transcript: ENSMUST00000130811

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146533

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]
PHENOTYPE: Targeted disruption of this gene results in intrauterine growth retardation, hypotonia, aphagia, abnormal lamination of the cerebral cortex associated with a neuronal migration defect, liver steatosis, delayed differentiation of renal glomeruli, impairedperoxisome metabolism, and neonatal death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	G	T	17: 35,567,833		probably null	Het
Abca13	T	A	11: 9,290,788	W884R	possibly damaging	Het
Ahi1	T	C	10: 20,960,085		probably benign	Het
Ankfn1	G	T	11: 89,391,639	P394Q	probably benign	Het
AW549877	T	C	15: 3,988,683	Y170C	probably damaging	Het
Cacnb2	T	C	2: 14,984,270	I393T	possibly damaging	Het
Ces1a	G	T	8: 93,045,098	P24T	probably damaging	Het
Col22a1	T	C	15: 71,907,031	E269G	probably damaging	Het
Cyp24a1	A	G	2: 170,496,566	L70P	probably damaging	Het
Cyp8b1	T	C	9: 121,914,995	K424E	probably damaging	Het
Dicer1	G	A	12: 104,691,610	Q1902*	probably null	Het
Dst	T	A	1: 34,247,653	L544Q	probably damaging	Het
Esrp2	T	C	8: 106,132,233	T591A	probably benign	Het
Gap43	C	T	16: 42,292,153	E82K	probably benign	Het
Kif17	G	A	4: 138,269,086	V125I	probably benign	Het
Lancl2	T	C	6: 57,732,322	S370P	probably damaging	Het
Macf1	T	C	4: 123,493,160	I203V	possibly damaging	Het
Mphosph9	A	G	5: 124,283,624		probably benign	Het
Ncapg	A	G	5: 45,672,384	I143V	possibly damaging	Het
Nr3c1	A	G	18: 39,486,637	V199A	probably benign	Het
Obscn	T	A	11: 59,064,417	N3890I	possibly damaging	Het
Olfr130	A	G	17: 38,068,095	N308S	probably benign	Het
Olfr669	T	A	7: 104,938,991	V155E	possibly damaging	Het
Olfr92	A	T	17: 37,111,809	Y58N	probably damaging	Het
Olfr951	A	G	9: 39,393,818	H6R	probably benign	Het
Palmd	C	A	3: 116,927,188	E166*	probably null	Het
Pdzd2	T	C	15: 12,445,664	E327G	probably damaging	Het
Pkd2	T	C	5: 104,498,884		probably benign	Het
Plb1	A	G	5: 32,317,123	T643A	probably damaging	Het
Prlr	T	A	15: 10,329,171	D577E	probably benign	Het
Slc44a3	A	G	3: 121,527,128	C75R	probably damaging	Het
Susd6	A	T	12: 80,874,319	N230I	possibly damaging	Het
Tbx10	A	G	19: 3,998,227	R251G	probably damaging	Het
Ttc30a1	T	C	2: 75,980,516	I408V	probably benign	Het
Uap1l1	A	G	2: 25,363,804		probably null	Het
Ugt2b5	A	G	5: 87,136,209	V308A	possibly damaging	Het
Usp28	C	A	9: 49,025,873	H147Q	probably benign	Het
Vmn1r203	T	C	13: 22,524,277	I76T	possibly damaging	Het
Vmn2r104	A	G	17: 20,042,896	I101T	possibly damaging	Het
Vmn2r17	T	A	5: 109,453,140	L768H	probably damaging	Het

Other mutations in Pex13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Pitch	UTSW	11	23655949	missense	probably benign
yaw	UTSW	11	23649527	missense	possibly damaging	0.58
R0455:Pex13	UTSW	11	23655949	missense	probably benign
R0671:Pex13	UTSW	11	23665831	missense	possibly damaging	0.57
R1454:Pex13	UTSW	11	23649422	missense	probably benign
R1738:Pex13	UTSW	11	23649458	missense	probably benign
R1830:Pex13	UTSW	11	23655513	missense	probably damaging	0.96
R2349:Pex13	UTSW	11	23655789	missense	probably damaging	0.96
R4688:Pex13	UTSW	11	23655472	missense	possibly damaging	0.69
R5094:Pex13	UTSW	11	23655441	missense	probably benign	0.00
R5727:Pex13	UTSW	11	23655705	missense	probably benign	0.02
R6360:Pex13	UTSW	11	23655690	missense	probably benign	0.17
R6837:Pex13	UTSW	11	23649527	missense	possibly damaging	0.58
R6957:Pex13	UTSW	11	23655628	missense	probably benign
R7167:Pex13	UTSW	11	23655472	missense	possibly damaging	0.69

Posted On

2013-12-03