Mutagenetix > Incidental Mutation

Incidental Mutation 'R7195:Pex11g'

559860

Institutional Source

Beutler Lab

Gene Symbol

Pex11g

Ensembl Gene

ENSMUSG00000069633

Gene Name

peroxisomal biogenesis factor 11 gamma

Synonyms

Pex11c, Pex11gamma, 1810022F11Rik, 1810049N02Rik

MMRRC Submission

045336-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7195 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3507105-3517648 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3509237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 230 (V230A)

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

probably benign
Transcript: ENSMUST00000004686
AA Change: V230A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000004686
Gene: ENSMUSG00000069633
AA Change: V230A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111081

SMART Domains

Protein: ENSMUSP00000106710
Gene: ENSMUSG00000069633

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: 98.8%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	C	11: 58,179,242 (GRCm39)		probably null	Het
Abca2	A	G	2: 25,332,088 (GRCm39)	D1400G	probably benign	Het
Actl11	A	T	9: 107,806,069 (GRCm39)	K131*	probably null	Het
Adam39	A	T	8: 41,277,812 (GRCm39)	R68*	probably null	Het
Akap7	A	T	10: 25,147,405 (GRCm39)	N108K	probably damaging	Het
Arhgef10l	C	A	4: 140,338,721 (GRCm39)	A14S	probably benign	Het
Ccdc141	T	G	2: 76,879,927 (GRCm39)	N632T	probably benign	Het
Ccm2	T	C	11: 6,546,302 (GRCm39)	S435P	probably damaging	Het
Cd36	A	G	5: 18,019,187 (GRCm39)	L178P	probably damaging	Het
Cd7	T	C	11: 120,929,075 (GRCm39)	I59V	probably benign	Het
Cds2	T	A	2: 132,135,204 (GRCm39)	S32T	probably benign	Het
Cep19	A	G	16: 31,925,904 (GRCm39)	D104G	probably damaging	Het
Col1a2	C	T	6: 4,510,753 (GRCm39)	P68S	unknown	Het
Col20a1	A	G	2: 180,649,024 (GRCm39)	H1011R	probably damaging	Het
Cspg4b	A	T	13: 113,504,463 (GRCm39)	D1864V		Het
D7Ertd443e	A	G	7: 133,896,851 (GRCm39)	V513A	probably damaging	Het
Egfr	C	T	11: 16,818,162 (GRCm39)	P228L	probably damaging	Het
Fam243	C	T	16: 92,118,037 (GRCm39)	V84M	probably damaging	Het
Fam78b	A	G	1: 166,906,131 (GRCm39)	R97G	probably damaging	Het
Flt1	C	T	5: 147,540,386 (GRCm39)	V768M	probably damaging	Het
Gdap1l1	A	T	2: 163,288,050 (GRCm39)	N96Y	probably damaging	Het
Gm7168	T	A	17: 14,169,622 (GRCm39)	Y330N	probably benign	Het
Hnrnpul1	T	C	7: 25,424,203 (GRCm39)	N683S	unknown	Het
Ice2	C	T	9: 69,335,782 (GRCm39)	P922S	possibly damaging	Het
Iglv2	A	G	16: 19,079,260 (GRCm39)	V81A	not run	Het
Irs1	A	G	1: 82,265,177 (GRCm39)	I1013T	probably benign	Het
Itih4	T	C	14: 30,621,432 (GRCm39)	S832P	probably damaging	Het
Klhl1	A	T	14: 96,517,513 (GRCm39)	Y388N	probably benign	Het
Lrrc37a	G	A	11: 103,348,601 (GRCm39)	S2698L	unknown	Het
Map4k4	T	C	1: 40,058,829 (GRCm39)	Y1008H	possibly damaging	Het
Mdn1	G	T	4: 32,701,823 (GRCm39)	G1519W	probably damaging	Het
Mga	T	A	2: 119,747,809 (GRCm39)	D653E	probably damaging	Het
Npas1	T	C	7: 16,208,733 (GRCm39)	E48G	probably damaging	Het
Nup188	G	A	2: 30,231,842 (GRCm39)		probably null	Het
Or1p1b	G	T	11: 74,130,394 (GRCm39)	M1I	probably null	Het
Or3a4	T	A	11: 73,945,223 (GRCm39)	M121L	probably damaging	Het
Or4c110	G	A	2: 88,832,075 (GRCm39)	L186F		Het
Or51a39	A	G	7: 102,362,873 (GRCm39)	V249A	possibly damaging	Het
Or55b4	A	T	7: 102,133,574 (GRCm39)	V251D	probably damaging	Het
Or7h8	A	G	9: 20,123,840 (GRCm39)	N65S	probably damaging	Het
Oxct1	T	C	15: 4,158,383 (GRCm39)	V439A	probably damaging	Het
Pcdhb22	G	T	18: 37,652,341 (GRCm39)	G13W	probably damaging	Het
Pop1	C	T	15: 34,510,525 (GRCm39)	S439L	probably damaging	Het
Ptpn9	T	A	9: 56,929,533 (GRCm39)	H83Q	probably benign	Het
Qrfp	C	T	2: 31,698,704 (GRCm39)	R76H	probably benign	Het
Slc30a3	A	G	5: 31,246,139 (GRCm39)	V197A	probably benign	Het
Slc8a3	T	C	12: 81,361,047 (GRCm39)	N591D	possibly damaging	Het
Sp4	G	T	12: 118,263,807 (GRCm39)	Q80K	possibly damaging	Het
Spock1	C	T	13: 58,055,316 (GRCm39)	G29D	possibly damaging	Het
Sprr1a	G	T	3: 92,391,674 (GRCm39)	P109Q	probably damaging	Het
Suz12	T	A	11: 79,904,309 (GRCm39)	F239L	probably damaging	Het
Tbx3	A	G	5: 119,813,648 (GRCm39)	Y248C	probably damaging	Het
Trabd2b	T	C	4: 114,266,637 (GRCm39)	L217P	probably damaging	Het
Ubxn11	A	C	4: 133,853,726 (GRCm39)	I398L	possibly damaging	Het
Vmn1r173	T	A	7: 23,401,884 (GRCm39)	S40T	probably damaging	Het
Vmn2r2	T	C	3: 64,023,900 (GRCm39)	S894G	probably benign	Het
Vmn2r65	A	G	7: 84,592,347 (GRCm39)		probably null	Het
Vps13c	G	A	9: 67,853,107 (GRCm39)	G2400D	possibly damaging	Het
Vps8	T	C	16: 21,275,032 (GRCm39)	Y197H	probably damaging	Het
Wdr91	T	C	6: 34,866,209 (GRCm39)	N486D	possibly damaging	Het
Wwp1	A	G	4: 19,627,908 (GRCm39)	I695T	possibly damaging	Het
Zc3hc1	T	C	6: 30,382,547 (GRCm39)	D133G	probably benign	Het
Zcchc14	T	C	8: 122,335,200 (GRCm39)	I307V	unknown	Het
Zfp933	G	A	4: 147,910,636 (GRCm39)	T320I	probably benign	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
R8802:Pex11g	UTSW	8	3,507,308 (GRCm39)	missense	unknown
R9345:Pex11g	UTSW	8	3,509,363 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- AAGAAAGCAGCTTCCCCTG -3'
(R):5'- CCATGGAGGCAAGGATATGCTC -3'

Sequencing Primer
(F):5'- TGGGGCCTGAGAAGATCTC -3'
(R):5'- GCTCAGAGGTTTTAACTCTACTCAG -3'

Posted On

2019-06-26