Mutagenetix > Incidental Mutation

Incidental Mutation 'R6957:Pex13'

541525

Institutional Source

Beutler Lab

Gene Symbol

Pex13

Ensembl Gene

ENSMUSG00000020283

Gene Name

peroxisomal biogenesis factor 13

Synonyms

2610008O20Rik

MMRRC Submission

045068-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6957 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23597283-23615883 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 23605628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 201 (M201L)

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

probably benign
Transcript: ENSMUST00000020523
AA Change: M201L

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

SMART Domains

Protein: ENSMUSP00000020523
Gene: ENSMUSG00000020283
AA Change: M201L

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: 99.4%
20x: 98.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	G	1: 138,779,857 (GRCm39)	S132P	probably damaging	Het
Abcb5	A	G	12: 118,871,270 (GRCm39)	F710L	probably damaging	Het
Acsm4	T	G	7: 119,310,622 (GRCm39)	V503G	probably damaging	Het
Adam26a	T	A	8: 44,021,940 (GRCm39)	M517L	probably benign	Het
Adcy10	C	A	1: 165,391,854 (GRCm39)	L1345I	probably damaging	Het
Adgrv1	T	C	13: 81,715,609 (GRCm39)	I860V	probably benign	Het
Alcam	T	C	16: 52,097,257 (GRCm39)	D333G	probably damaging	Het
Amt	C	A	9: 108,177,032 (GRCm39)	F213L	possibly damaging	Het
Ascc3	A	G	10: 50,604,278 (GRCm39)	T1333A	probably damaging	Het
Asxl3	C	A	18: 22,655,148 (GRCm39)	L1053I	probably damaging	Het
Atxn10	T	C	15: 85,220,699 (GRCm39)	S12P	probably damaging	Het
AU021092	T	C	16: 5,030,017 (GRCm39)	I333V	probably benign	Het
Birc6	A	G	17: 74,886,486 (GRCm39)	I577V	probably benign	Het
Cadm2	A	T	16: 66,609,726 (GRCm39)	F132I	probably benign	Het
Casp3	T	A	8: 47,087,308 (GRCm39)	V85D	probably damaging	Het
Ccdc168	C	T	1: 44,096,367 (GRCm39)	C1577Y	probably benign	Het
Ccdc85a	A	T	11: 28,342,944 (GRCm39)		probably benign	Het
Cd22	T	C	7: 30,566,999 (GRCm39)	R760G	possibly damaging	Het
Cela3a	A	T	4: 137,135,441 (GRCm39)	W41R	probably damaging	Het
Cep164	A	G	9: 45,683,578 (GRCm39)		probably null	Het
Cntnap5b	A	G	1: 100,202,197 (GRCm39)	E348G	probably benign	Het
Ddx20	C	A	3: 105,591,626 (GRCm39)	K181N	probably benign	Het
Dnah14	G	C	1: 181,612,740 (GRCm39)	A3846P	possibly damaging	Het
Ern1	A	C	11: 106,294,365 (GRCm39)	I813S	probably damaging	Het
Fam181a	G	A	12: 103,282,773 (GRCm39)	G226D	probably damaging	Het
Fam186a	T	A	15: 99,844,357 (GRCm39)	D629V	unknown	Het
Gipr	T	A	7: 18,898,529 (GRCm39)	T26S	probably benign	Het
Gm3159	A	G	14: 4,398,530 (GRCm38)	R74G	possibly damaging	Het
Greb1l	G	A	18: 10,558,786 (GRCm39)	V1814I	probably benign	Het
Hacd1	A	T	2: 14,049,664 (GRCm39)	V98E	probably damaging	Het
Iars1	T	G	13: 49,875,637 (GRCm39)	F775V	probably damaging	Het
Il12rb2	G	A	6: 67,269,636 (GRCm39)	L726F	possibly damaging	Het
Itih4	T	C	14: 30,614,560 (GRCm39)	V474A	probably damaging	Het
Kmt2a	A	C	9: 44,731,319 (GRCm39)		probably benign	Het
Ktn1	T	A	14: 47,904,810 (GRCm39)	L196*	probably null	Het
Lipo4	A	G	19: 33,476,767 (GRCm39)	V327A	probably benign	Het
Lratd2	T	C	15: 60,694,934 (GRCm39)	T271A	probably benign	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrp4	C	A	2: 91,317,387 (GRCm39)	T837K	probably damaging	Het
Mad1l1	G	T	5: 140,051,572 (GRCm39)	F664L	probably damaging	Het
Mecr	A	G	4: 131,589,172 (GRCm39)	T247A	probably benign	Het
Msi1	G	A	5: 115,583,483 (GRCm39)	A228T	probably benign	Het
Mup5	T	A	4: 61,751,273 (GRCm39)	N125I	probably damaging	Het
Mybl2	C	T	2: 162,914,728 (GRCm39)	S282F	possibly damaging	Het
Myom2	G	A	8: 15,167,741 (GRCm39)	A1109T	probably null	Het
Nalcn	T	C	14: 123,744,966 (GRCm39)	D354G	probably damaging	Het
Nckap1l	T	C	15: 103,399,938 (GRCm39)	V1040A	possibly damaging	Het
Nlrp12	T	A	7: 3,271,160 (GRCm39)	D1051V	probably damaging	Het
Nudt7	A	G	8: 114,860,385 (GRCm39)	K16R	probably benign	Het
Or4b1	G	T	2: 89,979,494 (GRCm39)	Y285*	probably null	Het
Or8g29-ps1	A	G	9: 39,200,577 (GRCm39)	V203A	unknown	Het
Paqr3	A	T	5: 97,256,110 (GRCm39)	I88K	possibly damaging	Het
Parp9	A	G	16: 35,768,716 (GRCm39)	M299V	probably benign	Het
Pde4dip	A	T	3: 97,731,649 (GRCm39)		probably null	Het
Pfas	C	A	11: 68,884,709 (GRCm39)	V498L	probably benign	Het
Phka2	G	A	X: 159,316,044 (GRCm39)	V230I	probably damaging	Het
Plec	T	A	15: 76,070,414 (GRCm39)	D932V	probably damaging	Het
Qng1	C	A	13: 58,529,775 (GRCm39)	C279F	probably damaging	Het
Qsox2	C	T	2: 26,107,654 (GRCm39)	A445T	probably benign	Het
Rapgef1	C	A	2: 29,623,710 (GRCm39)	Q820K	possibly damaging	Het
Samd13	A	G	3: 146,368,424 (GRCm39)		probably null	Het
Samm50	G	T	15: 84,082,850 (GRCm39)	D104Y	probably damaging	Het
Sbk3	A	T	7: 4,970,522 (GRCm39)	F282L	probably benign	Het
Sfmbt1	C	T	14: 30,509,546 (GRCm39)	H342Y	probably benign	Het
Sgo2b	CCATCATCATCATCATCATCAT	CCATCATCATCATCATCAT	8: 64,384,489 (GRCm39)		probably benign	Het
Slc12a2	T	A	18: 58,043,344 (GRCm39)	L596*	probably null	Het
Spata31h1	A	T	10: 82,129,620 (GRCm39)	I1130K	probably benign	Het
St8sia3	T	C	18: 64,404,853 (GRCm39)	S377P	probably benign	Het
Stmnd1	T	G	13: 46,427,375 (GRCm39)	S28A	probably benign	Het
Syne3	A	T	12: 104,920,561 (GRCm39)	L458Q	probably damaging	Het
Synm	C	T	7: 67,385,848 (GRCm39)	V163I	probably benign	Het
Tbc1d23	A	G	16: 57,028,686 (GRCm39)	C161R	probably damaging	Het
Tnfrsf4	G	A	4: 156,100,625 (GRCm39)	V215I	probably benign	Het
Vars2	T	G	17: 35,977,967 (GRCm39)	K67Q	probably benign	Het
Vmn2r13	A	T	5: 109,304,753 (GRCm39)	Y559*	probably null	Het
Wdpcp	T	C	11: 21,671,154 (GRCm39)	I465T	possibly damaging	Het
Zwilch	A	C	9: 64,069,844 (GRCm39)		probably null	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
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
R8284:Pex13	UTSW	11	23,605,685 (GRCm39)	missense	possibly damaging	0.69
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'- CCTGTTACTTCATCATTGTGTGTAG -3'
(R):5'- AGAGGTGCATTTCAGTCCATTGAAAG -3'

Sequencing Primer
(F):5'- TGTGTAGATAGAAGTTTCCAGATGAG -3'
(R):5'- CAGTCCATTGAAAGTATTGTGCATGC -3'

Posted On

2018-11-28