Mutagenetix > Incidental Mutation

Incidental Mutation 'R9400:Pcgf1'

711051

Institutional Source

Beutler Lab

Gene Symbol

Pcgf1

Ensembl Gene

ENSMUSG00000069678

Gene Name

polycomb group ring finger 1

Synonyms

2010002K04Rik, Nspc1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9400 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83054850-83057836 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83057066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 199 (E199G)

Ref Sequence

ENSEMBL: ENSMUSP00000130614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092614] [ENSMUST00000165164] [ENSMUST00000176027] [ENSMUST00000176089] [ENSMUST00000176100] [ENSMUST00000177177]

AlphaFold

Q8R023

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092614
AA Change: E187G

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000090277
Gene: ENSMUSG00000069678
AA Change: E187G

Domain	Start	End	E-Value	Type
RING	35	73	6.58e-5	SMART
PDB:4HPM\|D	155	243	9e-45	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165164
AA Change: E199G

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000130614
Gene: ENSMUSG00000069678
AA Change: E199G

Domain	Start	End	E-Value	Type
RING	47	85	6.58e-5	SMART
Pfam:RAWUL	174	253	9.7e-19	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000176027
AA Change: *107W

SMART Domains

Protein: ENSMUSP00000135664
Gene: ENSMUSG00000069678
AA Change: *107W

Domain	Start	End	E-Value	Type
PDB:2CKL\|A	1	46	2e-13	PDB
PDB:4HPM\|D	84	106	1e-5	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000176089
AA Change: E48G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135268
Gene: ENSMUSG00000069678
AA Change: E48G

Domain	Start	End	E-Value	Type
PDB:2CKL\|A	1	32	5e-9	PDB
PDB:4HPM\|D	33	104	3e-27	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000176100

SMART Domains

Protein: ENSMUSP00000135882
Gene: ENSMUSG00000069678

Domain	Start	End	E-Value	Type
PDB:2CKL\|A	19	52	3e-9	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177177
AA Change: E116G

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135291
Gene: ENSMUSG00000069678
AA Change: E116G

Domain	Start	End	E-Value	Type
PDB:2CKL\|A	1	46	2e-12	PDB
PDB:4HPM\|D	84	172	7e-46	PDB

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PCGF1 is a mammalian homolog of the Drosophila polycomb group genes, which act as transcriptional repressors to regulate anterior-posterior patterning in early embryonic development (Nunes et al., 2001 [PubMed 11287196]). See also PCGF2 (MIM 600346).[supplied by OMIM, Aug 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	G	17: 9,211,118 (GRCm39)	N89S	probably benign	Het
9930111J21Rik1	C	T	11: 48,839,244 (GRCm39)	E448K	possibly damaging	Het
Acer1	G	A	17: 57,288,990 (GRCm39)	T40M	probably damaging	Het
Adam1a	T	C	5: 121,657,893 (GRCm39)	T467A	probably benign	Het
Agmat	A	G	4: 141,476,981 (GRCm39)	D129G	probably damaging	Het
Ak8	T	A	2: 28,650,011 (GRCm39)	I346N	probably benign	Het
Ankrd12	A	T	17: 66,291,875 (GRCm39)	V1186E	probably damaging	Het
Ankrd27	T	G	7: 35,316,282 (GRCm39)	L516R	probably damaging	Het
Aplp2	C	A	9: 31,075,855 (GRCm39)	R402L	possibly damaging	Het
Aspm	A	G	1: 139,407,641 (GRCm39)	Y2176C	probably damaging	Het
Boc	T	C	16: 44,319,844 (GRCm39)	D380G		Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Chst2	T	C	9: 95,287,642 (GRCm39)	S235G	probably benign	Het
Clca4b	A	G	3: 144,616,953 (GRCm39)	V899A	probably benign	Het
Ddx1	A	G	12: 13,273,703 (GRCm39)	S617P	probably damaging	Het
Etv5	A	T	16: 22,220,476 (GRCm39)	F304I	probably benign	Het
Fmo9	T	G	1: 166,505,243 (GRCm39)	E50A	probably benign	Het
Gbp11	T	C	5: 105,478,841 (GRCm39)	E199G	probably damaging	Het
Gemin5	C	T	11: 58,028,541 (GRCm39)	G893D	probably damaging	Het
Gorab	G	T	1: 163,224,567 (GRCm39)	P78Q	probably damaging	Het
Gprc5a	A	G	6: 135,055,558 (GRCm39)	T2A	probably benign	Het
Gtf3c1	A	G	7: 125,275,683 (GRCm39)	I581T	probably damaging	Het
H6pd	A	G	4: 150,080,248 (GRCm39)	F199S	probably damaging	Het
Hdac3	A	T	18: 38,070,677 (GRCm39)	V426E	possibly damaging	Het
Jag2	G	T	12: 112,875,608 (GRCm39)	Y838*	probably null	Het
Kat6b	G	T	14: 21,659,826 (GRCm39)	R210L	probably damaging	Het
Kctd11	C	A	11: 69,770,544 (GRCm39)	E165*	probably null	Het
Knl1	T	C	2: 118,931,224 (GRCm39)	V1980A	probably damaging	Het
Lilrb4b	T	C	10: 51,357,319 (GRCm39)	S52P	probably benign	Het
Lrp5	T	G	19: 3,635,272 (GRCm39)	M1535L	probably benign	Het
Lrr1	A	G	12: 69,221,476 (GRCm39)	D206G	probably benign	Het
Lrrd1	G	A	5: 3,899,677 (GRCm39)		probably benign	Het
Map3k6	C	A	4: 132,968,467 (GRCm39)	A23E	probably damaging	Het
Mgat4a	T	C	1: 37,502,025 (GRCm39)	D241G	probably damaging	Het
Mpzl3	A	G	9: 44,986,077 (GRCm39)	Y237C	possibly damaging	Het
Mroh1	A	G	15: 76,336,093 (GRCm39)	E1489G	possibly damaging	Het
Myocd	T	C	11: 65,086,934 (GRCm39)	H331R	probably benign	Het
Myoz1	T	A	14: 20,699,504 (GRCm39)	H278L	probably benign	Het
Or12d2	A	T	17: 37,624,554 (GRCm39)	C240*	probably null	Het
Or1e22	A	T	11: 73,376,807 (GRCm39)	V281E	probably damaging	Het
Or4c104	A	G	2: 88,586,293 (GRCm39)	I242T	possibly damaging	Het
Or5a3	C	A	19: 12,400,274 (GRCm39)	N200K	possibly damaging	Het
Or5b102	T	A	19: 13,041,139 (GRCm39)	Y121*	probably null	Het
Or5b24	T	A	19: 12,912,878 (GRCm39)	Y259N	probably damaging	Het
Otof	A	T	5: 30,540,863 (GRCm39)		probably null	Het
Pcdha1	A	G	18: 37,064,760 (GRCm39)	I475V	probably benign	Het
Pip	C	A	6: 41,828,782 (GRCm39)	T109K	probably benign	Het
Slc12a7	A	G	13: 73,932,689 (GRCm39)	E59G	probably benign	Het
Slc38a2	T	C	15: 96,591,053 (GRCm39)	I237V	probably benign	Het
Slc6a5	T	C	7: 49,595,267 (GRCm39)	V543A	probably benign	Het
Slc9a2	T	C	1: 40,758,211 (GRCm39)	V250A	possibly damaging	Het
Smarcad1	T	C	6: 65,050,214 (GRCm39)	Y278H	probably damaging	Het
Snx7	A	T	3: 117,630,863 (GRCm39)	N248K	probably benign	Het
Spata6	T	A	4: 111,577,428 (GRCm39)	C9S	probably benign	Het
Stra6l	T	A	4: 45,885,293 (GRCm39)	L587Q	probably damaging	Het
Tmem131l	G	T	3: 83,830,293 (GRCm39)	N916K	possibly damaging	Het
Tmprss11c	C	T	5: 86,385,516 (GRCm39)	V319I	probably benign	Het
Tpo	A	T	12: 30,169,441 (GRCm39)	I98K	possibly damaging	Het
Umodl1	A	G	17: 31,215,367 (GRCm39)	T1064A	probably damaging	Het
Vldlr	T	C	19: 27,216,175 (GRCm39)	I332T	probably damaging	Het
Wdr75	T	A	1: 45,843,064 (GRCm39)	L133Q	probably damaging	Het
Zdhhc21	T	C	4: 82,753,687 (GRCm39)	N167S	probably benign	Het
Zfp37	A	T	4: 62,109,904 (GRCm39)	C428S	probably damaging	Het

Other mutations in Pcgf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Pcgf1	APN	6	83,057,606 (GRCm39)	missense	probably damaging	1.00
IGL01432:Pcgf1	APN	6	83,055,398 (GRCm39)	missense	possibly damaging	0.86
IGL01726:Pcgf1	APN	6	83,055,867 (GRCm39)	splice site	probably null
IGL03394:Pcgf1	APN	6	83,056,121 (GRCm39)	missense	probably damaging	1.00
R0513:Pcgf1	UTSW	6	83,057,555 (GRCm39)	missense	probably damaging	0.99
R0764:Pcgf1	UTSW	6	83,056,150 (GRCm39)	missense	probably damaging	1.00
R1486:Pcgf1	UTSW	6	83,056,107 (GRCm39)	missense	probably damaging	1.00
R4282:Pcgf1	UTSW	6	83,056,714 (GRCm39)	missense	probably damaging	1.00
R4283:Pcgf1	UTSW	6	83,056,714 (GRCm39)	missense	probably damaging	1.00
R4324:Pcgf1	UTSW	6	83,056,938 (GRCm39)	critical splice donor site	probably null
R4732:Pcgf1	UTSW	6	83,056,938 (GRCm39)	critical splice donor site	probably benign
R4733:Pcgf1	UTSW	6	83,056,938 (GRCm39)	critical splice donor site	probably benign
R5569:Pcgf1	UTSW	6	83,056,686 (GRCm39)	nonsense	probably null
R9070:Pcgf1	UTSW	6	83,057,076 (GRCm39)	missense	probably damaging	1.00
R9358:Pcgf1	UTSW	6	83,056,433 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- CCATCCAGTTCTGGCAAAGAC -3'
(R):5'- GTGATCTGGGAGAACCTCATTG -3'

Sequencing Primer
(F):5'- ACAAGAATAAAAATGTCCTTCAGGTG -3'
(R):5'- GGAACTGAACTCTGATCCTGGTAC -3'

Posted On

2022-04-20