Mutagenetix > Incidental Mutation

Incidental Mutation 'R7100:Pcgf6'

550795

Institutional Source

Beutler Lab

Gene Symbol

Pcgf6

Ensembl Gene

ENSMUSG00000025050

Gene Name

polycomb group ring finger 6

Synonyms

4933407A11Rik, Rnf134, Mel18 and Bmi1-like RING finger protein, MBLR

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.524) question?

Stock #

R7100 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47033619-47050845 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 47050714 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 36 (P36S)

Ref Sequence

ENSEMBL: ENSMUSP00000026032 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026032]

AlphaFold

Q99NA9

Predicted Effect

unknown
Transcript: ENSMUST00000026032
AA Change: P36S

SMART Domains

Protein: ENSMUSP00000026032
Gene: ENSMUSG00000025050
AA Change: P36S

Domain	Start	End	E-Value	Type
low complexity region	24	52	N/A	INTRINSIC
coiled coil region	71	113	N/A	INTRINSIC
RING	137	175	3.58e-6	SMART
Pfam:RAWUL	263	333	2.8e-10	PFAM

Meta Mutation Damage Score

0.0801

Coding Region Coverage

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

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger motif, which is most closely related to those of polycomb group (PcG) proteins RNF110/MEL-18 and BMI1. PcG proteins are known to form protein complexes and function as transcription repressors. This protein has been shown to interact with some PcG proteins and act as a transcription repressor. The activity of this protein is found to be regulated by cell cycle dependent phosphorylation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	A	G	2: 154,552,395	E89G	probably damaging	Het
Adgrv1	A	T	13: 81,270,897	V5993E	probably damaging	Het
Amdhd1	T	C	10: 93,537,074		probably null	Het
Amph	T	C	13: 19,149,841	*691Q	probably null	Het
Ankrd55	A	G	13: 112,356,110	K272E	probably benign	Het
Arhgef10l	C	T	4: 140,516,815	V838I	possibly damaging	Het
Arl2	C	A	19: 6,134,744	V160F	probably benign	Het
BC067074	T	A	13: 113,318,967	F516I		Het
Catsperb	T	C	12: 101,446,038	V128A	possibly damaging	Het
Cdk11b	T	A	4: 155,625,593	L17H	probably damaging	Het
Cpsf1	A	T	15: 76,596,114	N1391K	possibly damaging	Het
Cpxm2	C	T	7: 132,054,815	A573T	probably benign	Het
Daxx	T	C	17: 33,911,442	S144P	probably damaging	Het
Dpp3	T	C	19: 4,918,041	D303G	probably damaging	Het
Fam126b	T	A	1: 58,534,494	T384S	possibly damaging	Het
Fam181a	T	A	12: 103,315,873	N12K	probably damaging	Het
Flg2	A	T	3: 93,203,711	R1015S	unknown	Het
Fstl5	A	G	3: 76,536,293	H315R	probably benign	Het
Fut4	A	G	9: 14,751,393	S202P	probably damaging	Het
Gm5114	T	C	7: 39,408,284	D637G	possibly damaging	Het
Gstcd	G	T	3: 133,084,943	T21K	probably benign	Het
Heca	C	T	10: 17,915,373	V312M	probably benign	Het
Herpud1	A	G	8: 94,390,847	R144G	probably damaging	Het
Hrasls5	T	A	19: 7,639,558	F313I	unknown	Het
Ino80	A	G	2: 119,374,513	S1511P	possibly damaging	Het
Irf2bp2	T	C	8: 126,591,733	T365A	probably benign	Het
Klk1	G	A	7: 44,229,424	G214E	probably damaging	Het
Lama3	A	T	18: 12,582,644	N1719I	possibly damaging	Het
Lmna	A	G	3: 88,484,990	I365T	probably damaging	Het
Lrp8	C	A	4: 107,802,450	A13E	possibly damaging	Het
Ly75	A	G	2: 60,306,434	L1483P	probably benign	Het
Mid1	A	G	X: 169,985,077	D407G	probably benign	Het
Mpl	G	T	4: 118,457,410	A21E		Het
Mus81	C	T	19: 5,484,211	G360S	probably damaging	Het
Nmt2	T	A	2: 3,312,913	S250T	probably benign	Het
Nr1d1	C	A	11: 98,771,334	R158L	probably damaging	Het
Pcnx2	G	A	8: 125,759,114	A1915V	probably benign	Het
Peak1	A	G	9: 56,259,393	V417A	probably damaging	Het
Phf20l1	A	G	15: 66,604,840	N262S	probably benign	Het
Ppp2r5d	A	G	17: 46,685,682	V355A	probably benign	Het
Rasa3	T	C	8: 13,586,897	T395A	probably benign	Het
Rims1	T	A	1: 22,346,473	I432F	probably benign	Het
Rnf123	C	T	9: 108,056,639	C1080Y	probably damaging	Het
Serpina3g	T	C	12: 104,238,311		probably benign	Het
Shank2	T	A	7: 144,411,164	D836E	possibly damaging	Het
Slc24a5	A	C	2: 125,080,671	S118R	probably damaging	Het
Smg1	G	T	7: 118,184,520	H1048N	unknown	Het
Specc1l	T	G	10: 75,245,495	S242A	probably benign	Het
Tagap1	A	T	17: 6,956,712	L195Q	possibly damaging	Het
Tmem57	T	C	4: 134,806,660	D550G	probably damaging	Het
Trpc3	C	A	3: 36,650,067	E580D	probably benign	Het
Ttn	A	T	2: 76,710,822	V33940E	probably benign	Het
Upp2	G	T	2: 58,791,805	R318L	probably benign	Het
Vezt	T	A	10: 93,996,933	E205D	probably benign	Het
Vmn1r177	A	G	7: 23,866,110	F114L	probably benign	Het
Vmn2r53	C	A	7: 12,581,586	E769*	probably null	Het
Vnn3	T	C	10: 23,865,942	Y382H	probably damaging	Het

Other mutations in Pcgf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02088:Pcgf6	APN	19	47050804	missense	unknown
IGL02228:Pcgf6	APN	19	47047982	missense	probably damaging	1.00
IGL02366:Pcgf6	APN	19	47050455	missense	possibly damaging	0.56
IGL03152:Pcgf6	APN	19	47048905	splice site	probably benign
R0220:Pcgf6	UTSW	19	47040090	missense	probably benign	0.26
R1651:Pcgf6	UTSW	19	47049002	missense	probably damaging	1.00
R1668:Pcgf6	UTSW	19	47040105	missense	probably damaging	1.00
R1711:Pcgf6	UTSW	19	47050518	missense	probably damaging	0.96
R3157:Pcgf6	UTSW	19	47040036	splice site	probably benign
R4745:Pcgf6	UTSW	19	47048106	critical splice donor site	probably null
R5620:Pcgf6	UTSW	19	47047967	missense	probably damaging	1.00
R6450:Pcgf6	UTSW	19	47049088	missense	probably benign	0.00
R7073:Pcgf6	UTSW	19	47042787	missense	possibly damaging	0.56
R8079:Pcgf6	UTSW	19	47045832	missense	probably damaging	1.00
R8347:Pcgf6	UTSW	19	47045838	missense	possibly damaging	0.86
R8745:Pcgf6	UTSW	19	47050720	missense	probably benign	0.23
R9079:Pcgf6	UTSW	19	47050614	missense	possibly damaging	0.49
R9430:Pcgf6	UTSW	19	47050780	missense	unknown
R9619:Pcgf6	UTSW	19	47048822	missense	possibly damaging	0.73
R9753:Pcgf6	UTSW	19	47034634	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ATGATCTGCAAGGACTCCAC -3'
(R):5'- TAGGTAGCCTAGGTGAACCACAC -3'

Sequencing Primer
(F):5'- CAGAGAGAAGTGGCTCATCTCTTC -3'
(R):5'- CTGCGCACTGGTACGAAAG -3'

Posted On

2019-05-15