Mutagenetix > Incidental Mutation

Incidental Mutation 'R1454:Pex13'

162215

Institutional Source

Beutler Lab

Gene Symbol

Pex13

Ensembl Gene

ENSMUSG00000020283

Gene Name

peroxisomal biogenesis factor 13

Synonyms

2610008O20Rik

MMRRC Submission

039509-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1454 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23597283-23615883 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23599422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 363 (I363T)

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: I363T

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

SMART Domains

Protein: ENSMUSP00000020523
Gene: ENSMUSG00000020283
AA Change: I363T

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 89.2%

Validation Efficiency

97% (58/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	A	G	16: 85,666,881 (GRCm39)	V537A	possibly damaging	Het
Adcy10	A	T	1: 165,342,949 (GRCm39)	I272F	possibly damaging	Het
Adcy6	A	G	15: 98,502,609 (GRCm39)	S2P	probably damaging	Het
Agap1	A	G	1: 89,765,528 (GRCm39)		probably null	Het
Aldh3a2	A	G	11: 61,155,928 (GRCm39)	V116A	probably benign	Het
Ankdd1b	A	T	13: 96,569,913 (GRCm39)		probably null	Het
Antxrl	G	A	14: 33,782,906 (GRCm39)	V233I	probably damaging	Het
Atp8b5	A	G	4: 43,302,590 (GRCm39)	I38V	probably benign	Het
Atxn7l2	A	G	3: 108,115,748 (GRCm39)		probably benign	Het
Bfsp2	A	T	9: 103,357,424 (GRCm39)	M1K	probably null	Het
Camsap3	T	A	8: 3,653,968 (GRCm39)	I520N	possibly damaging	Het
Cenpc1	C	T	5: 86,161,369 (GRCm39)	V854I	possibly damaging	Het
Csnk2a1	T	C	2: 152,099,347 (GRCm39)	L88S	probably damaging	Het
Dcaf17	A	G	2: 70,903,517 (GRCm39)	N171D	probably damaging	Het
Dctn1	G	C	6: 83,174,490 (GRCm39)	A1077P	possibly damaging	Het
Dock1	T	C	7: 134,453,338 (GRCm39)		probably benign	Het
Egfr	A	T	11: 16,839,920 (GRCm39)	I645L	probably benign	Het
Gdpd1	T	G	11: 86,950,335 (GRCm39)	K79N	possibly damaging	Het
Ggt5	A	T	10: 75,445,742 (GRCm39)	L432F	probably benign	Het
Gm11060	A	G	2: 104,924,097 (GRCm39)	T22A	unknown	Het
Gpr132	G	A	12: 112,815,860 (GRCm39)	T322I	possibly damaging	Het
Grin1	G	A	2: 25,182,442 (GRCm39)	R940*	probably null	Het
Hip1	T	C	5: 135,467,486 (GRCm39)	T316A	probably benign	Het
Hnrnpm	A	G	17: 33,885,462 (GRCm39)		probably benign	Het
Hsd3b5	G	A	3: 98,526,846 (GRCm39)	T200I	probably benign	Het
Hspa9	A	T	18: 35,071,659 (GRCm39)	L647H	probably damaging	Het
Itgad	T	C	7: 127,791,309 (GRCm39)	I727T	probably benign	Het
Kcnma1	T	C	14: 23,513,268 (GRCm39)	D522G	probably damaging	Het
Lipf	C	T	19: 33,948,132 (GRCm39)		probably benign	Het
Ly6i	T	C	15: 74,854,904 (GRCm39)	D2G	possibly damaging	Het
Mast1	G	A	8: 85,647,264 (GRCm39)	P631L	probably damaging	Het
Mmp1b	G	C	9: 7,386,693 (GRCm39)	L144V	probably damaging	Het
Msh6	A	G	17: 88,292,186 (GRCm39)	S314G	probably benign	Het
Myo5c	G	A	9: 75,170,348 (GRCm39)	V493I	possibly damaging	Het
Nefm	A	G	14: 68,358,828 (GRCm39)	L402P	probably damaging	Het
Nrxn2	T	C	19: 6,531,476 (GRCm39)	F697S	probably damaging	Het
Or13c7b	A	T	4: 43,820,639 (GRCm39)	C241S	probably damaging	Het
Plcb3	T	C	19: 6,932,414 (GRCm39)	R1082G	possibly damaging	Het
Psg28	A	T	7: 18,161,889 (GRCm39)	S205T	possibly damaging	Het
Pxt1	C	A	17: 29,153,756 (GRCm39)	V26L	possibly damaging	Het
Ripk2	G	A	4: 16,163,239 (GRCm39)	T53M	probably damaging	Het
Slc5a9	A	G	4: 111,741,161 (GRCm39)	V495A	probably benign	Het
Snrpa	T	C	7: 26,892,362 (GRCm39)	K66R	probably benign	Het
Srgap1	T	A	10: 121,732,643 (GRCm39)	E145V	probably damaging	Het
Suz12	A	G	11: 79,922,939 (GRCm39)	T694A	probably benign	Het
Tatdn2	T	A	6: 113,681,288 (GRCm39)	D440E	probably benign	Het
Tbc1d21	A	G	9: 58,270,096 (GRCm39)		probably null	Het
Tbc1d31	T	A	15: 57,815,034 (GRCm39)	Y570*	probably null	Het
Tbc1d32	A	T	10: 56,053,575 (GRCm39)		probably benign	Het
Tdrd5	G	C	1: 156,087,406 (GRCm39)	Q839E	probably benign	Het
Tecpr2	A	G	12: 110,935,387 (GRCm39)	N1402S	probably benign	Het
Thbs1	A	G	2: 117,953,153 (GRCm39)	D921G	probably damaging	Het
Tll1	A	G	8: 64,491,524 (GRCm39)	V803A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trpm4	T	C	7: 44,966,480 (GRCm39)	E461G	probably damaging	Het
Zp3	T	A	5: 136,013,042 (GRCm39)	I152N	probably damaging	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
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
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'- AATGTCCTCGTGGTCCACAAGACAG -3'
(R):5'- AACCCAAAGTGCGTGGTTGGCTTC -3'

Sequencing Primer
(F):5'- GTGTAGACAGATCACTTGACTAGC -3'
(R):5'- TTGGCTTCTGGCTAGTCTTGAC -3'

Posted On

2014-03-14