Mutagenetix > Incidental Mutation

Incidental Mutation 'R9345:Pex11g'

707747

Institutional Source

Beutler Lab

Gene Symbol

Pex11g

Ensembl Gene

ENSMUSG00000069633

Gene Name

peroxisomal biogenesis factor 11 gamma

Synonyms

Pex11c, Pex11gamma, 1810022F11Rik, 1810049N02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9345 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3507105-3517648 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3509363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 188 (N188S)

Ref Sequence

ENSEMBL: ENSMUSP00000004686 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004684] [ENSMUST00000004686] [ENSMUST00000111081]

AlphaFold

Q6P6M5

Predicted Effect

probably benign
Transcript: ENSMUST00000004684

SMART Domains

Protein: ENSMUSP00000004684
Gene: ENSMUSG00000004568

Domain	Start	End	E-Value	Type
RhoGEF	105	297	2.62e-58	SMART
PH	340	443	5.57e-12	SMART
low complexity region	446	456	N/A	INTRINSIC
low complexity region	646	663	N/A	INTRINSIC
coiled coil region	697	800	N/A	INTRINSIC
low complexity region	887	897	N/A	INTRINSIC
low complexity region	905	919	N/A	INTRINSIC
low complexity region	963	985	N/A	INTRINSIC
low complexity region	991	1010	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004686
AA Change: N188S

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000004686
Gene: ENSMUSG00000069633
AA Change: N188S

Domain	Start	End	E-Value	Type
Pfam:PEX11	4	230	4.5e-60	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111081
AA Change: N125S

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106710
Gene: ENSMUSG00000069633
AA Change: N125S

Domain	Start	End	E-Value	Type
Pfam:PEX11	1	151	4.2e-32	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the PEX11 family. This family is reported to regulate the number and size of peroxisomes in evolutionarily distant organisms. The protein encoded by this gene may induce clustering of peroxisomes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,807,869 (GRCm39)	I837F	probably damaging	Het
Acot3	A	G	12: 84,103,866 (GRCm39)	Y225C	probably benign	Het
Adam17	A	G	12: 21,378,056 (GRCm39)	V710A	probably damaging	Het
Ank3	A	G	10: 69,761,899 (GRCm39)		probably benign	Het
Ankrd60	T	A	2: 173,410,610 (GRCm39)	K303N	possibly damaging	Het
Atp10b	T	A	11: 43,094,024 (GRCm39)	S523T	probably damaging	Het
Bptf	A	G	11: 106,971,588 (GRCm39)	V973A	possibly damaging	Het
Ccdc24	C	T	4: 117,729,691 (GRCm39)	W9*	probably null	Het
Ccdc82	A	G	9: 13,281,891 (GRCm39)	T439A	probably benign	Het
Ccne2	C	A	4: 11,199,420 (GRCm39)	Q274K	probably benign	Het
Clec11a	T	C	7: 43,956,189 (GRCm39)	M1V	probably null	Het
Col12a1	T	A	9: 79,541,017 (GRCm39)	Y2370F	probably benign	Het
Cyp4a32	C	T	4: 115,467,699 (GRCm39)	H228Y	probably benign	Het
Dchs2	G	A	3: 83,036,101 (GRCm39)	G283S	probably benign	Het
Dis3	T	C	14: 99,318,814 (GRCm39)	T659A	probably damaging	Het
Dock5	T	C	14: 68,060,071 (GRCm39)	D456G	possibly damaging	Het
Efr3b	T	A	12: 4,033,409 (GRCm39)	K249*	probably null	Het
Emilin2	C	T	17: 71,581,539 (GRCm39)	V396I	probably benign	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fasn	A	T	11: 120,706,735 (GRCm39)	S947T	probably benign	Het
Fryl	C	T	5: 73,207,754 (GRCm39)	C2472Y	probably benign	Het
Gm3159	A	T	14: 4,398,488 (GRCm38)	I60L	probably benign	Het
Gm3402	A	T	5: 146,451,330 (GRCm39)	N63Y	probably damaging	Het
Gm49355	C	T	14: 12,296,641 (GRCm38)		probably benign	Het
Grm2	A	G	9: 106,528,287 (GRCm39)	L199P	probably damaging	Het
Hck	T	A	2: 152,992,904 (GRCm39)	H470Q	probably benign	Het
Hsd17b4	T	C	18: 50,299,981 (GRCm39)	Y413H	probably benign	Het
Ice1	A	G	13: 70,740,758 (GRCm39)	F80L		Het
Ifrd1	G	A	12: 40,267,458 (GRCm39)	P38S	possibly damaging	Het
Itgad	A	G	7: 127,788,479 (GRCm39)	T431A	probably benign	Het
Kcnd3	A	T	3: 105,566,003 (GRCm39)	I395F	probably damaging	Het
Kif20a	A	G	18: 34,759,779 (GRCm39)	E58G	probably benign	Het
Kras	A	T	6: 145,192,442 (GRCm39)	D30E	probably benign	Het
Lmbrd1	C	T	1: 24,724,593 (GRCm39)	A59V	probably damaging	Het
Lrrc20	T	C	10: 61,383,890 (GRCm39)	L99P	probably damaging	Het
Mfn2	T	C	4: 147,966,649 (GRCm39)	D514G	probably benign	Het
Myl2	A	G	5: 122,242,902 (GRCm39)	E96G	probably damaging	Het
Nppb	T	G	4: 148,070,518 (GRCm39)	L29R	probably damaging	Het
Or51f1e	C	T	7: 102,747,713 (GRCm39)	A255V	possibly damaging	Het
Or5ak22	A	G	2: 85,230,097 (GRCm39)	V260A	probably benign	Het
Pcdhb14	A	G	18: 37,581,281 (GRCm39)	H129R	probably damaging	Het
Pla2g3	A	G	11: 3,442,170 (GRCm39)	D410G	probably benign	Het
Pnma1	C	A	12: 84,194,232 (GRCm39)	W157L	probably benign	Het
Pofut2	A	G	10: 77,103,090 (GRCm39)	Y362C	probably damaging	Het
Ppp1r14c	C	A	10: 3,373,567 (GRCm39)	S126*	probably null	Het
Psg27	T	C	7: 18,299,081 (GRCm39)	H80R	probably benign	Het
Rere	T	A	4: 150,554,770 (GRCm39)	V156D	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Samd8	G	A	14: 21,830,227 (GRCm39)	V281I	probably benign	Het
Scarf1	A	G	11: 75,404,401 (GRCm39)		probably benign	Het
Scgb2b27	A	G	7: 33,712,722 (GRCm39)	L40P	probably benign	Het
Sdk1	A	T	5: 142,147,708 (GRCm39)	H1780L	probably benign	Het
Slc10a6	T	C	5: 103,754,521 (GRCm39)	T337A	probably benign	Het
Slc44a4	A	T	17: 35,140,219 (GRCm39)	D208V	probably benign	Het
Slco1c1	G	T	6: 141,493,553 (GRCm39)	C363F	probably benign	Het
Smg5	T	A	3: 88,261,848 (GRCm39)	L707Q	probably damaging	Het
Supt5	A	T	7: 28,016,412 (GRCm39)	D789E	probably benign	Het
Tbcd	A	G	11: 121,464,648 (GRCm39)	Y561C	probably damaging	Het
Tectb	T	C	19: 55,183,097 (GRCm39)	L316P	probably benign	Het
Thrsp	T	C	7: 97,066,326 (GRCm39)	T129A	possibly damaging	Het
Tnpo3	T	C	6: 29,558,851 (GRCm39)	H693R	probably benign	Het
Trim54	T	G	5: 31,294,478 (GRCm39)	D335E	probably benign	Het
Tsr1	A	G	11: 74,790,126 (GRCm39)	D107G	probably benign	Het
Ttc41	A	T	10: 86,595,089 (GRCm39)	E954D	probably damaging	Het
Ttn	A	G	2: 76,538,595 (GRCm39)	L34701P	possibly damaging	Het
Vmn1r119	A	C	7: 20,746,034 (GRCm39)	V116G	probably damaging	Het
Vmn1r219	G	A	13: 23,346,769 (GRCm39)		probably benign	Het
Zc3h12c	T	A	9: 52,028,010 (GRCm39)	M470L	probably benign	Het
Zmynd8	T	C	2: 165,654,668 (GRCm39)	K615E	possibly damaging	Het

Other mutations in Pex11g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02272:Pex11g	APN	8	3,515,898 (GRCm39)	missense	probably benign	0.34
R3947:Pex11g	UTSW	8	3,515,787 (GRCm39)	missense	probably benign	0.21
R4597:Pex11g	UTSW	8	3,514,043 (GRCm39)	missense	probably damaging	1.00
R4610:Pex11g	UTSW	8	3,515,899 (GRCm39)	missense	probably benign	0.03
R4898:Pex11g	UTSW	8	3,514,042 (GRCm39)	missense	probably damaging	1.00
R5576:Pex11g	UTSW	8	3,515,875 (GRCm39)	missense	probably damaging	1.00
R6317:Pex11g	UTSW	8	3,514,092 (GRCm39)	missense	probably damaging	1.00
R7195:Pex11g	UTSW	8	3,509,237 (GRCm39)	missense	probably benign	0.00
R8802:Pex11g	UTSW	8	3,507,308 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGAGTCCTGTTGAGCACCAC -3'
(R):5'- TGTGGAATTGAGGCCATGAG -3'

Sequencing Primer
(F):5'- TGTTGAGCACCACAGTGTC -3'
(R):5'- ACAAGAGTGGCTCTCCTC -3'

Posted On

2022-04-18