Mutagenetix > Incidental Mutation

Incidental Mutation 'R5202:Pcgf5'

400949

Institutional Source

Beutler Lab

Gene Symbol

Pcgf5

Ensembl Gene

ENSMUSG00000024805

Gene Name

polycomb group ring finger 5

Synonyms

0610009F02Rik, 9530023M17Rik, 5830406C17Rik, 5830443C21Rik, 1110054A01Rik

MMRRC Submission

042777-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.621) question?

Stock #

R5202 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36325729-36438370 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36414583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 80 (F80I)

Ref Sequence

ENSEMBL: ENSMUSP00000153066 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062389] [ENSMUST00000071267] [ENSMUST00000224679] [ENSMUST00000224772] [ENSMUST00000224971] [ENSMUST00000225411] [ENSMUST00000225920]

AlphaFold

Q3UK78

Predicted Effect

probably damaging
Transcript: ENSMUST00000062389
AA Change: F80I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058730
Gene: ENSMUSG00000024805
AA Change: F80I

Domain	Start	End	E-Value	Type
RING	18	56	4.05e-5	SMART
low complexity region	86	96	N/A	INTRINSIC
Pfam:RAWUL	146	230	2.4e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000071267
AA Change: F80I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071245
Gene: ENSMUSG00000024805
AA Change: F80I

Domain	Start	End	E-Value	Type
RING	18	56	4.05e-5	SMART
low complexity region	86	96	N/A	INTRINSIC
Pfam:RAWUL	146	230	2.4e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000224679
AA Change: F80I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224772
AA Change: F80I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000224859
AA Change: F5I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224971
AA Change: F80I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225050

Predicted Effect

probably damaging
Transcript: ENSMUST00000225411
AA Change: F80I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225920
AA Change: F80I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225185

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Bone marrow cells from mice homozygous for a conditional allele exhibit normal hematopoietic and progenitor cell function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,562,308 (GRCm39)	M312L	probably benign	Het
Adam7	C	A	14: 68,745,305 (GRCm39)	D640Y	possibly damaging	Het
Alcam	T	C	16: 52,094,599 (GRCm39)	Y384C	probably damaging	Het
Apob	A	G	12: 8,063,737 (GRCm39)	E289G	probably damaging	Het
Arhgap15	A	T	2: 43,953,869 (GRCm39)	R198S	probably benign	Het
Bbs2	G	T	8: 94,819,042 (GRCm39)	S109*	probably null	Het
Bfsp1	T	C	2: 143,668,891 (GRCm39)	S569G	probably benign	Het
Chst9	A	T	18: 15,586,296 (GRCm39)	I89N	probably benign	Het
Cntln	A	C	4: 84,889,466 (GRCm39)	E316D	probably benign	Het
Csde1	T	G	3: 102,947,250 (GRCm39)	D67E	probably damaging	Het
Csf2rb	T	G	15: 78,233,257 (GRCm39)	S855A	possibly damaging	Het
Cyp4a10	T	A	4: 115,389,812 (GRCm39)	D472E	probably damaging	Het
Cyp4f18	C	A	8: 72,762,940 (GRCm39)	R49L	probably benign	Het
Daam1	G	T	12: 71,991,048 (GRCm39)	V221L	unknown	Het
Dbr1	T	G	9: 99,465,944 (GRCm39)	D507E	probably benign	Het
Dhrs7c	A	G	11: 67,706,627 (GRCm39)	M188V	probably benign	Het
Dicer1	A	T	12: 104,660,990 (GRCm39)	L1688*	probably null	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
E2f3	G	A	13: 30,102,619 (GRCm39)	T91I	probably damaging	Het
Etaa1	A	T	11: 17,897,853 (GRCm39)	V157E	probably damaging	Het
Foxp2	A	T	6: 15,394,770 (GRCm39)	T157S	probably benign	Het
Frem2	A	G	3: 53,458,767 (GRCm39)	V2034A	probably benign	Het
Fzd10	T	C	5: 128,679,180 (GRCm39)	V300A	possibly damaging	Het
Gbf1	A	T	19: 46,256,893 (GRCm39)	M778L	probably benign	Het
Gm17472	T	A	6: 42,958,068 (GRCm39)	N112K	probably benign	Het
Gria4	T	C	9: 4,424,330 (GRCm39)	K845R	probably benign	Het
Hspa4l	T	A	3: 40,736,001 (GRCm39)	S541T	probably benign	Het
Igkv4-68	G	A	6: 69,281,926 (GRCm39)	R82C	probably damaging	Het
Itgb1	A	T	8: 129,446,491 (GRCm39)	I383F	probably damaging	Het
Kcnk12	T	A	17: 88,054,033 (GRCm39)	K210*	probably null	Het
Limch1	C	G	5: 67,150,516 (GRCm39)	D163E	probably damaging	Het
Mbd4	A	T	6: 115,826,363 (GRCm39)	D188E	probably damaging	Het
Myh9	C	T	15: 77,665,310 (GRCm39)		probably null	Het
Nbeal2	T	C	9: 110,473,734 (GRCm39)	E28G	probably damaging	Het
Nfatc4	A	G	14: 56,064,116 (GRCm39)	E201G	probably damaging	Het
Nrap	G	A	19: 56,323,583 (GRCm39)	H1330Y	probably damaging	Het
Nudt14	A	G	12: 112,898,648 (GRCm39)	S151P	probably damaging	Het
Or14c45	C	A	7: 86,176,324 (GRCm39)	R120S	probably damaging	Het
Or2ag2	T	A	7: 106,485,803 (GRCm39)	T74S	possibly damaging	Het
Or7e165	T	A	9: 19,694,514 (GRCm39)	F28L	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Paqr9	A	G	9: 95,442,163 (GRCm39)	D51G	probably damaging	Het
Pkhd1	T	G	1: 20,617,565 (GRCm39)	S1007R	probably benign	Het
Rab30	T	C	7: 92,485,121 (GRCm39)	Y196H	probably benign	Het
Setd2	A	T	9: 110,380,298 (GRCm39)	D1371V	probably damaging	Het
Slc48a1	A	T	15: 97,688,581 (GRCm39)	I140F	possibly damaging	Het
Sorl1	A	G	9: 41,944,879 (GRCm39)	V882A	probably benign	Het
Sptbn2	G	T	19: 4,774,212 (GRCm39)	G88W	probably damaging	Het
Tdrd12	A	G	7: 35,189,455 (GRCm39)	V427A	possibly damaging	Het
Tekt2	T	C	4: 126,218,463 (GRCm39)	D69G	probably benign	Het
Tie1	C	T	4: 118,337,707 (GRCm39)	V463I	probably benign	Het
Tmem150c	G	T	5: 100,227,813 (GRCm39)	H217N	probably damaging	Het
Tnks2	G	A	19: 36,866,252 (GRCm39)	G1080R	probably damaging	Het
Ttll4	G	A	1: 74,727,011 (GRCm39)		probably null	Het

Other mutations in Pcgf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Pcgf5	APN	19	36,420,268 (GRCm39)	missense	probably damaging	1.00
IGL03184:Pcgf5	APN	19	36,412,076 (GRCm39)	splice site	probably benign
IGL03259:Pcgf5	APN	19	36,433,059 (GRCm39)	missense	probably benign	0.28
Baleen	UTSW	19	36,420,311 (GRCm39)	missense	probably damaging	0.99
whalebone	UTSW	19	36,420,339 (GRCm39)	nonsense	probably null
R0318:Pcgf5	UTSW	19	36,389,590 (GRCm39)	missense	possibly damaging	0.81
R0570:Pcgf5	UTSW	19	36,389,580 (GRCm39)	missense	probably benign	0.00
R0890:Pcgf5	UTSW	19	36,389,544 (GRCm39)	missense	probably benign	0.05
R2238:Pcgf5	UTSW	19	36,414,754 (GRCm39)	missense	probably damaging	0.97
R2239:Pcgf5	UTSW	19	36,414,754 (GRCm39)	missense	probably damaging	0.97
R3904:Pcgf5	UTSW	19	36,417,495 (GRCm39)	missense	probably damaging	1.00
R4050:Pcgf5	UTSW	19	36,420,311 (GRCm39)	missense	probably damaging	0.99
R4209:Pcgf5	UTSW	19	36,414,740 (GRCm39)	missense	possibly damaging	0.81
R4210:Pcgf5	UTSW	19	36,414,740 (GRCm39)	missense	possibly damaging	0.81
R4211:Pcgf5	UTSW	19	36,414,740 (GRCm39)	missense	possibly damaging	0.81
R5997:Pcgf5	UTSW	19	36,412,003 (GRCm39)	missense	probably benign	0.35
R6039:Pcgf5	UTSW	19	36,420,306 (GRCm39)	missense	probably damaging	1.00
R6039:Pcgf5	UTSW	19	36,420,306 (GRCm39)	missense	probably damaging	1.00
R7060:Pcgf5	UTSW	19	36,420,339 (GRCm39)	nonsense	probably null
R8076:Pcgf5	UTSW	19	36,417,483 (GRCm39)	missense	probably damaging	1.00
R8773:Pcgf5	UTSW	19	36,389,348 (GRCm39)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- CACCAGAGGAAGGCTTGTTG -3'
(R):5'- AGAAGCCGTCAGACAGTTAC -3'

Sequencing Primer
(F):5'- AAGGCTTGTTGAAGTAAGTGTGC -3'
(R):5'- AGCCGTCAGACAGTTACCTTGC -3'

Posted On

2016-07-06