Mutagenetix > Incidental Mutation

Incidental Mutation 'R4282:Pcgf1'

322941

Institutional Source

Beutler Lab

Gene Symbol

Pcgf1

Ensembl Gene

ENSMUSG00000069678

Gene Name

polycomb group ring finger 1

Synonyms

2010002K04Rik, Nspc1

MMRRC Submission

041650-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4282 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83054850-83057836 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83056714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 90 (L90Q)

Ref Sequence

ENSEMBL: ENSMUSP00000135291 (fasta)

Gene Model

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

AlphaFold

Q8R023

Predicted Effect

probably damaging
Transcript: ENSMUST00000092614
AA Change: L161Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090277
Gene: ENSMUSG00000069678
AA Change: L161Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165164
AA Change: L173Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130614
Gene: ENSMUSG00000069678
AA Change: L173Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000176027
AA Change: L90Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135664
Gene: ENSMUSG00000069678
AA Change: L90Q

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 benign
Transcript: ENSMUST00000176089

SMART Domains

Protein: ENSMUSP00000135268
Gene: ENSMUSG00000069678

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

noncoding transcript
Transcript: ENSMUST00000176372

Predicted Effect

probably damaging
Transcript: ENSMUST00000177177
AA Change: L90Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135291
Gene: ENSMUSG00000069678
AA Change: L90Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193381

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204211

Meta Mutation Damage Score

0.8908

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (59/61)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700092K14Rik	A	C	11: 114,089,970 (GRCm39)		noncoding transcript	Het
Abca17	G	T	17: 24,518,034 (GRCm39)	D758E	possibly damaging	Het
Adam28	A	G	14: 68,885,155 (GRCm39)	V65A	possibly damaging	Het
Adgra2	T	A	8: 27,609,272 (GRCm39)	M616K	possibly damaging	Het
Aldh3b2	A	G	19: 4,027,636 (GRCm39)	D59G	probably benign	Het
Ankrd28	A	G	14: 31,467,182 (GRCm39)	V260A	possibly damaging	Het
Bbs7	A	G	3: 36,627,720 (GRCm39)	V689A	probably damaging	Het
Cacna1e	A	G	1: 154,302,296 (GRCm39)	F1653S	probably benign	Het
Cd55b	T	C	1: 130,344,596 (GRCm39)	D213G	probably damaging	Het
Colgalt2	G	A	1: 152,344,282 (GRCm39)	V115M	probably damaging	Het
Ddx60	T	C	8: 62,447,427 (GRCm39)	V1138A	probably damaging	Het
Defa27	A	G	8: 21,805,632 (GRCm39)	N24S	probably benign	Het
Defb40	A	G	8: 19,028,093 (GRCm39)	S14P	probably damaging	Het
Dnmt3a	G	A	12: 3,951,665 (GRCm39)	G681R	probably damaging	Het
Dus2	C	T	8: 106,775,286 (GRCm39)	A271V	probably benign	Het
Fabp3	C	T	4: 130,206,245 (GRCm39)		probably null	Het
Fancg	T	C	4: 43,003,830 (GRCm39)	D533G	probably damaging	Het
Frem3	T	C	8: 81,340,770 (GRCm39)	V1021A	probably benign	Het
Gmip	T	A	8: 70,266,251 (GRCm39)		probably benign	Het
Hspb6	T	C	7: 30,252,889 (GRCm39)	S44P	possibly damaging	Het
Jsrp1	T	C	10: 80,646,190 (GRCm39)	I50V	probably benign	Het
Kansl1	T	C	11: 104,269,515 (GRCm39)	N476S	probably benign	Het
Kcnq2	T	C	2: 180,722,946 (GRCm39)	D810G	probably damaging	Het
Magea14	T	C	X: 51,057,867 (GRCm39)	Y273C	probably damaging	Het
Maml2	C	A	9: 13,531,406 (GRCm39)	L207I	possibly damaging	Het
Myo3a	A	T	2: 22,345,089 (GRCm39)	E508D	probably benign	Het
Nav1	T	A	1: 135,385,651 (GRCm39)		probably benign	Het
Ndrg3	A	T	2: 156,790,214 (GRCm39)	C90S	possibly damaging	Het
Orc1	A	G	4: 108,463,471 (GRCm39)	S663G	probably benign	Het
Pcdhb14	T	A	18: 37,583,195 (GRCm39)	L767H	probably damaging	Het
Pnma5	T	C	X: 72,079,036 (GRCm39)	M549V	probably benign	Het
Por	C	A	5: 135,744,815 (GRCm39)	T26K	possibly damaging	Het
Ppp4r3c1	A	T	X: 88,976,105 (GRCm39)	W31R	probably damaging	Het
Qsox1	T	A	1: 155,662,671 (GRCm39)		probably null	Het
Rad51ap2	T	A	12: 11,506,465 (GRCm39)	V129D	probably benign	Het
Rec8	A	G	14: 55,856,091 (GRCm39)	H11R	probably damaging	Het
Rxfp2	T	G	5: 149,993,735 (GRCm39)	V585G	possibly damaging	Het
Sftpd	G	A	14: 40,894,537 (GRCm39)	T294I	probably benign	Het
Sh3gl1	A	G	17: 56,343,456 (GRCm39)	S2P	probably damaging	Het
Slc38a10	A	T	11: 120,020,090 (GRCm39)	F321I	probably damaging	Het
Slc4a10	T	A	2: 62,074,687 (GRCm39)		probably null	Het
Slco6b1	A	G	1: 96,925,115 (GRCm39)		noncoding transcript	Het
Slit1	T	C	19: 41,602,856 (GRCm39)	E985G	probably benign	Het
Smurf1	C	T	5: 144,819,403 (GRCm39)	E575K	probably damaging	Het
Sned1	A	T	1: 93,213,577 (GRCm39)	R426*	probably null	Het
Tas2r123	G	A	6: 132,825,008 (GRCm39)	V302I	possibly damaging	Het
Tmem182	T	C	1: 40,877,530 (GRCm39)	I135T	probably damaging	Het
Tmem67	T	C	4: 12,073,922 (GRCm39)	Y298C	probably damaging	Het
Trappc9	A	G	15: 72,462,641 (GRCm39)	C1026R	probably damaging	Het
Troap	A	G	15: 98,976,713 (GRCm39)	D279G	probably benign	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vmn1r23	T	C	6: 57,903,452 (GRCm39)	T109A	probably benign	Het
Vmn2r25	A	T	6: 123,800,606 (GRCm39)	C579S	probably damaging	Het
Zbtb18	A	G	1: 177,275,045 (GRCm39)	D126G	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
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
R9400:Pcgf1	UTSW	6	83,057,066 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- CCCAGTGGTGAAGGTATGTC -3'
(R):5'- ACAAGTTAGAGGGTTCCACTTTTC -3'

Sequencing Primer
(F):5'- AAAGCCCTCAGAGCATCTCTTTTG -3'
(R):5'- AGAGGGTTCCACTTTTCTTGTC -3'

Posted On

2015-06-20