Mutagenetix > Incidental Mutation

Incidental Mutation 'R9086:Pex13'

690612

Institutional Source

Beutler Lab

Gene Symbol

Pex13

Ensembl Gene

ENSMUSG00000020283

Gene Name

peroxisomal biogenesis factor 13

Synonyms

2610008O20Rik

MMRRC Submission

068905-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9086 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23597283-23615883 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 23615760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 29 (G29C)

Ref Sequence

ENSEMBL: ENSMUSP00000020523 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020520] [ENSMUST00000020523] [ENSMUST00000058163] [ENSMUST00000109525] [ENSMUST00000130811] [ENSMUST00000143117]

AlphaFold

Q9D0K1

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000020520

SMART Domains

Protein: ENSMUSP00000020520
Gene: ENSMUSG00000020280

Domain	Start	End	E-Value	Type
PDB:2V9K\|A	1	527	N/A	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000020523
AA Change: G29C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020523
Gene: ENSMUSG00000020283
AA Change: G29C

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: ENSMUST00000058163

SMART Domains

Protein: ENSMUSP00000050395
Gene: ENSMUSG00000020280

Domain	Start	End	E-Value	Type
PDB:2V9K\|A	1	527	N/A	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000109525

SMART Domains

Protein: ENSMUSP00000105151
Gene: ENSMUSG00000020280

Domain	Start	End	E-Value	Type
PDB:2V9K\|A	1	527	N/A	PDB

Predicted Effect

unknown
Transcript: ENSMUST00000130811
AA Change: G29C

Predicted Effect

probably benign
Transcript: ENSMUST00000143117

SMART Domains

Protein: ENSMUSP00000117934
Gene: ENSMUSG00000020280

Domain	Start	End	E-Value	Type
PDB:2V9K\|A	1	140	4e-65	PDB

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 109,992,879 (GRCm39)	E1595G	probably damaging	Het
Ank1	T	C	8: 23,589,636 (GRCm39)	V608A	probably damaging	Het
Arl14epl	T	C	18: 47,065,661 (GRCm39)	V142A	possibly damaging	Het
Atp8a1	T	C	5: 67,932,159 (GRCm39)	D210G		Het
Baz1b	T	C	5: 135,260,538 (GRCm39)	F1112L	probably damaging	Het
Cage1	T	A	13: 38,206,898 (GRCm39)	I316F	probably damaging	Het
Car2	A	C	3: 14,952,968 (GRCm39)	T37P	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Cntnap3	T	A	13: 64,929,573 (GRCm39)	D542V	probably damaging	Het
Coro1b	T	C	19: 4,202,525 (GRCm39)	Y338H	probably damaging	Het
Ctdspl2	G	A	2: 121,838,298 (GRCm39)		probably null	Het
Cyp2a12	T	C	7: 26,735,944 (GRCm39)	F451S	probably damaging	Het
Dpm2	T	C	2: 32,462,391 (GRCm39)	L59P	probably damaging	Het
Duoxa2	A	G	2: 122,131,821 (GRCm39)	Y170C	probably damaging	Het
Dus2	T	A	8: 106,742,573 (GRCm39)	Y34*	probably null	Het
Dzip3	A	G	16: 48,781,493 (GRCm39)	I266T	possibly damaging	Het
Ebf3	T	C	7: 136,800,994 (GRCm39)	T455A	possibly damaging	Het
Echdc2	C	T	4: 108,027,076 (GRCm39)	Q74*	probably null	Het
Efhc1	T	C	1: 21,025,592 (GRCm39)	Y33H	probably damaging	Het
Fam20a	A	T	11: 109,566,754 (GRCm39)	C378*	probably null	Het
Fbxo25	C	A	8: 13,989,621 (GRCm39)	P356Q	probably damaging	Het
Fig4	G	T	10: 41,161,399 (GRCm39)	T59K	possibly damaging	Het
Gbp10	T	A	5: 105,366,369 (GRCm39)	M512L	probably benign	Het
Gdf10	T	A	14: 33,654,221 (GRCm39)	Y243N	probably damaging	Het
Golga5	T	A	12: 102,458,476 (GRCm39)	S640T	probably benign	Het
H1f9	A	T	11: 94,859,083 (GRCm39)	K126M	possibly damaging	Het
Ints1	A	T	5: 139,743,947 (GRCm39)	H1540Q	probably benign	Het
Lipo3	A	T	19: 33,534,529 (GRCm39)	L310Q	probably benign	Het
Lrrk2	A	G	15: 91,640,051 (GRCm39)	K1532R	probably benign	Het
Ltc4s	T	C	11: 50,128,074 (GRCm39)	Y59C	probably damaging	Het
Macf1	T	A	4: 123,377,944 (GRCm39)	H1427L	probably damaging	Het
Mroh2b	A	G	15: 4,982,754 (GRCm39)		probably null	Het
Mthfd1l	A	T	10: 3,923,412 (GRCm39)	D53V	probably benign	Het
Muc4	C	A	16: 32,577,842 (GRCm39)	P303Q		Het
Nrxn1	A	G	17: 90,469,792 (GRCm39)	F1293S	probably damaging	Het
Nrxn2	G	A	19: 6,540,108 (GRCm39)	E803K	probably damaging	Het
Nup155	A	G	15: 8,177,830 (GRCm39)	D1071G	possibly damaging	Het
Or1l4b	T	A	2: 37,036,426 (GRCm39)	D67E	probably damaging	Het
Or2ag18	A	T	7: 106,405,126 (GRCm39)	I181N	probably benign	Het
Or2ak6	T	A	11: 58,592,955 (GRCm39)	S143T	possibly damaging	Het
Papln	A	G	12: 83,821,633 (GRCm39)	E287G	probably damaging	Het
Phrf1	C	A	7: 140,839,412 (GRCm39)	T869K	unknown	Het
Pitrm1	A	G	13: 6,627,517 (GRCm39)	T912A	probably benign	Het
Pla2g4c	A	G	7: 13,071,692 (GRCm39)	K171E	probably benign	Het
Pnpla7	A	T	2: 24,929,709 (GRCm39)	T833S	probably damaging	Het
Por	G	T	5: 135,744,918 (GRCm39)		probably null	Het
Rab3ip	G	A	10: 116,775,310 (GRCm39)	S16L	probably damaging	Het
Rabgef1	A	T	5: 130,240,792 (GRCm39)	I304F	probably benign	Het
Rbbp8	T	C	18: 11,875,736 (GRCm39)	V883A	possibly damaging	Het
Rnase4	A	G	14: 51,342,429 (GRCm39)	D51G	possibly damaging	Het
Rnf13	A	C	3: 57,740,997 (GRCm39)	D291A	probably benign	Het
Rps6kb2	A	T	19: 4,209,270 (GRCm39)	I191N	probably damaging	Het
Scn1a	A	G	2: 66,181,358 (GRCm39)	L55S	probably benign	Het
Son	T	A	16: 91,467,418 (GRCm39)	F2260I	unknown	Het
Spata31h1	C	T	10: 82,124,577 (GRCm39)	S2811N	probably benign	Het
Ssr1	A	G	13: 38,167,449 (GRCm39)	I238T	probably benign	Het
Stk11ip	A	G	1: 75,506,818 (GRCm39)	E633G	possibly damaging	Het
Svs3a	A	G	2: 164,132,062 (GRCm39)	Y211C	probably benign	Het
Sytl1	T	A	4: 132,988,175 (GRCm39)	E60D	possibly damaging	Het
Tlcd5	C	T	9: 43,022,664 (GRCm39)	R230Q	probably benign	Het
Tlr1	T	C	5: 65,083,198 (GRCm39)	I460V	probably damaging	Het
Tmem64	T	C	4: 15,266,718 (GRCm39)	I256T	probably damaging	Het
Ttll5	G	A	12: 85,964,516 (GRCm39)	A553T	possibly damaging	Het
Ttll5	A	T	12: 86,071,107 (GRCm39)	T1327S	probably benign	Het
Upp2	T	A	2: 58,680,177 (GRCm39)	C334*	probably null	Het
Wdr74	C	A	19: 8,713,358 (GRCm39)	N24K	possibly damaging	Het
Zbtb42	G	A	12: 112,645,848 (GRCm39)	V8I	probably benign	Het
Zfp541	T	A	7: 15,824,329 (GRCm39)	L1078Q	probably damaging	Het
Zfr2	T	C	10: 81,076,029 (GRCm39)	V212A	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
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
R8284:Pex13	UTSW	11	23,605,685 (GRCm39)	missense	possibly damaging	0.69
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'- TGTCCCGCAAAAGCGAAAAG -3'
(R):5'- AGCAAATTAGCTGTTCCCTTCC -3'

Sequencing Primer
(F):5'- TAGCTCCTGCATCCGTGG -3'
(R):5'- AGCTTCGCCTGACCACACG -3'

Posted On

2021-12-30