Mutagenetix > Incidental Mutation

Incidental Mutation 'R8284:Pex13'

638387

Institutional Source

Beutler Lab

Gene Symbol

Pex13

Ensembl Gene

ENSMUSG00000020283

Gene Name

peroxisomal biogenesis factor 13

Synonyms

2610008O20Rik

MMRRC Submission

067707-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23597283-23615883 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23605685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 182 (S182P)

Ref Sequence

ENSEMBL: ENSMUSP00000020523 (fasta)

Gene Model

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

AlphaFold

Q9D0K1

PDB Structure

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020523
AA Change: S182P

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000020523
Gene: ENSMUSG00000020283
AA Change: S182P

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

probably benign
Transcript: ENSMUST00000130811

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (54/54)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	T	C	10: 61,034,438 (GRCm39)	Y1147C	possibly damaging	Het
Adgrf5	T	A	17: 43,766,161 (GRCm39)	S1328T	unknown	Het
Aff4	A	G	11: 53,295,379 (GRCm39)	K860E	probably damaging	Het
Aox1	A	C	1: 58,115,250 (GRCm39)	H745P	probably damaging	Het
Bpifc	T	C	10: 85,836,413 (GRCm39)	T31A	probably benign	Het
C3	C	A	17: 57,530,938 (GRCm39)	V388L	probably benign	Het
Celsr3	G	T	9: 108,723,612 (GRCm39)	M2874I	probably damaging	Het
Cnga4	T	A	7: 105,057,239 (GRCm39)	D550E	probably benign	Het
Dhx8	A	G	11: 101,648,455 (GRCm39)	T918A	probably damaging	Het
Dnah14	A	C	1: 181,601,376 (GRCm39)	E3670A	probably benign	Het
Fbxo31	T	C	8: 122,287,181 (GRCm39)	I131V	probably benign	Het
Ftcd	T	C	10: 76,413,893 (GRCm39)	V99A	probably benign	Het
Gucy2e	A	G	11: 69,123,177 (GRCm39)	V471A	probably benign	Het
H60b	T	A	10: 22,162,971 (GRCm39)	L182Q	probably benign	Het
Hbp1	G	A	12: 31,987,625 (GRCm39)	H188Y	probably damaging	Het
Itga4	C	T	2: 79,151,783 (GRCm39)	T862I	probably benign	Het
Kcnmb4	T	A	10: 116,254,158 (GRCm39)	K206N	probably damaging	Het
Klra4	A	G	6: 130,042,243 (GRCm39)	F8S	possibly damaging	Het
Mrpl2	C	A	17: 46,958,435 (GRCm39)	Y72*	probably null	Het
Nars2	C	A	7: 96,600,845 (GRCm39)		probably benign	Het
Nup214	T	C	2: 31,886,458 (GRCm39)	S607P	possibly damaging	Het
Oas1d	C	T	5: 121,057,221 (GRCm39)	R276*	probably null	Het
Or12d13	C	T	17: 37,647,587 (GRCm39)	V179I	probably benign	Het
Or1l8	T	A	2: 36,818,018 (GRCm39)	Y36F	probably damaging	Het
Or2t1	T	A	14: 14,329,011 (GRCm38)	L300Q	possibly damaging	Het
Or2y1b	A	G	11: 49,209,002 (GRCm39)	T210A	probably benign	Het
Piwil4	G	T	9: 14,638,774 (GRCm39)	N297K	probably benign	Het
Plxna4	T	C	6: 32,129,789 (GRCm39)	T1845A	probably benign	Het
Pml	T	C	9: 58,136,643 (GRCm39)	N579D	probably benign	Het
Ppl	A	G	16: 4,950,201 (GRCm39)	S3P	probably damaging	Het
Pramel16	G	T	4: 143,676,695 (GRCm39)	D136E	possibly damaging	Het
Prss54	G	A	8: 96,285,994 (GRCm39)	Q360*	probably null	Het
Ralgps2	A	G	1: 156,655,718 (GRCm39)	I402T	probably benign	Het
Rnf213	T	A	11: 119,318,909 (GRCm39)	D1123E		Het
Sdha	A	T	13: 74,479,416 (GRCm39)		probably null	Het
Senp8	G	A	9: 59,644,814 (GRCm39)	T114I		Het
Setx	C	T	2: 29,035,348 (GRCm39)	T611I	possibly damaging	Het
Shc1	T	G	3: 89,329,215 (GRCm39)	S20A	possibly damaging	Het
Slc15a1	T	C	14: 121,727,275 (GRCm39)	I98V	probably benign	Het
Snrk	A	G	9: 121,989,538 (GRCm39)	E294G	probably damaging	Het
Sox18	G	A	2: 181,312,751 (GRCm39)	P127S	probably damaging	Het
Spta1	A	G	1: 174,007,387 (GRCm39)	T206A	probably benign	Het
Tcfl5	A	G	2: 180,280,330 (GRCm39)	S358P	probably benign	Het
Tecta	T	A	9: 42,289,325 (GRCm39)	L413F	possibly damaging	Het
Tlk1	T	C	2: 70,544,365 (GRCm39)	T757A	probably benign	Het
Tmem232	T	A	17: 65,709,990 (GRCm39)	I433F	probably damaging	Het
Top1mt	T	A	15: 75,539,712 (GRCm39)	K300*	probably null	Het
Trbv20	C	T	6: 41,165,782 (GRCm39)	A69V	probably damaging	Het
Trim12a	A	T	7: 103,955,282 (GRCm39)	L147Q	probably damaging	Het
Tuba8	G	A	6: 121,199,736 (GRCm39)	S140N	probably damaging	Het
Vcan	A	T	13: 89,852,454 (GRCm39)	N835K	possibly damaging	Het
Xrcc1	G	A	7: 24,271,703 (GRCm39)	R562H	probably damaging	Het
Yipf7	C	T	5: 69,674,539 (GRCm39)	G202D	probably benign	Het
Ythdc1	T	G	5: 86,964,325 (GRCm39)	S45A	probably benign	Het
Zfp1002	T	C	2: 150,097,276 (GRCm39)		probably benign	Het

Other mutations in Pex13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01527:Pex13	APN	11	23,606,111 (GRCm39)	missense	probably benign
Pitch	UTSW	11	23,605,949 (GRCm39)	missense	probably benign
yaw	UTSW	11	23,599,527 (GRCm39)	missense	possibly damaging	0.58
R0455:Pex13	UTSW	11	23,605,949 (GRCm39)	missense	probably benign
R0671:Pex13	UTSW	11	23,615,831 (GRCm39)	missense	possibly damaging	0.57
R1454:Pex13	UTSW	11	23,599,422 (GRCm39)	missense	probably benign
R1738:Pex13	UTSW	11	23,599,458 (GRCm39)	missense	probably benign
R1830:Pex13	UTSW	11	23,605,513 (GRCm39)	missense	probably damaging	0.96
R2349:Pex13	UTSW	11	23,605,789 (GRCm39)	missense	probably damaging	0.96
R4688:Pex13	UTSW	11	23,605,472 (GRCm39)	missense	possibly damaging	0.69
R5094:Pex13	UTSW	11	23,605,441 (GRCm39)	missense	probably benign	0.00
R5727:Pex13	UTSW	11	23,605,705 (GRCm39)	missense	probably benign	0.02
R6360:Pex13	UTSW	11	23,605,690 (GRCm39)	missense	probably benign	0.17
R6837:Pex13	UTSW	11	23,599,527 (GRCm39)	missense	possibly damaging	0.58
R6957:Pex13	UTSW	11	23,605,628 (GRCm39)	missense	probably benign
R7167:Pex13	UTSW	11	23,605,472 (GRCm39)	missense	possibly damaging	0.69
R7880:Pex13	UTSW	11	23,599,369 (GRCm39)	missense	probably benign	0.26
R7898:Pex13	UTSW	11	23,600,929 (GRCm39)	critical splice donor site	probably null
R8000:Pex13	UTSW	11	23,605,915 (GRCm39)	missense	probably damaging	1.00
R9086:Pex13	UTSW	11	23,615,760 (GRCm39)	missense	probably damaging	1.00
R9334:Pex13	UTSW	11	23,605,630 (GRCm39)	missense	probably benign	0.04
R9415:Pex13	UTSW	11	23,601,034 (GRCm39)	missense	probably damaging	1.00
R9743:Pex13	UTSW	11	23,606,119 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TAAGGACCGCCAAGGATAAC -3'
(R):5'- TCCCAGTAGGTTTGTTCAGC -3'

Sequencing Primer
(F):5'- CAGCAAAGAACAGGAATATTGGCC -3'
(R):5'- CCAGTAGGTTTGTTCAGCAAGCTG -3'

Posted On

2020-07-28