Mutagenetix > Incidental Mutations

Incidental Mutation 'R3904:Pcgf5'

309120

Institutional Source

Beutler Lab

Gene Symbol

Pcgf5

Ensembl Gene

ENSMUSG00000024805

Gene Name

polycomb group ring finger 5

Synonyms

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

MMRRC Submission

040812-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.751) question?

Stock #

R3904 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36348309-36460970 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36440095 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 140 (I140T)

Ref Sequence

ENSEMBL: ENSMUSP00000153066 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000062389
AA Change: I141T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058730
Gene: ENSMUSG00000024805
AA Change: I141T

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: I141T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071245
Gene: ENSMUSG00000024805
AA Change: I141T

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: I141T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224772
AA Change: I140T

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

Predicted Effect

unknown
Transcript: ENSMUST00000224859
AA Change: I66T

Predicted Effect

probably benign
Transcript: ENSMUST00000224971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225185

Predicted Effect

probably damaging
Transcript: ENSMUST00000225411
AA Change: I141T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225920
AA Change: I141T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.3304

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (39/39)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	C	3: 138,066,639	I530L	probably benign	Het
5930422O12Rik	T	C	8: 33,429,439	S96P	probably damaging	Het
Acot4	A	G	12: 84,043,327		probably null	Het
Alms1	A	G	6: 85,621,678	D1631G	probably benign	Het
Amd1	C	T	10: 40,290,457	R210H	probably benign	Het
Amt	C	T	9: 108,297,221	R62C	possibly damaging	Het
Anapc1	A	G	2: 128,642,519	F1175S	probably damaging	Het
Ano4	A	G	10: 89,025,005	F337S	probably damaging	Het
Bub1	A	C	2: 127,821,942	I207S	probably benign	Het
Cfap53	T	A	18: 74,307,374	L405M	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Col6a1	C	T	10: 76,711,341	R730H	unknown	Het
Esp3	A	T	17: 40,635,929	T48S	possibly damaging	Het
Fam35a	A	G	14: 34,259,709	W491R	probably damaging	Het
Fmo1	G	T	1: 162,833,768	N315K	possibly damaging	Het
Gm595	T	C	X: 48,841,544	N649S	possibly damaging	Het
Impg1	A	G	9: 80,345,585	S438P	possibly damaging	Het
Jsrp1	T	A	10: 80,812,412	M1L	probably benign	Het
Klra14-ps	T	A	6: 130,152,549		noncoding transcript	Het
Mrm3	A	G	11: 76,244,286	M108V	probably benign	Het
Mtf2	T	A	5: 108,081,000	F61I	probably damaging	Het
Nat10	A	T	2: 103,726,247		probably benign	Het
Olfr1356	T	G	10: 78,847,298	I206L	probably benign	Het
Olfr1380	T	C	11: 49,564,758	I279T	possibly damaging	Het
Pfpl	T	C	19: 12,430,437	L684P	probably benign	Het
Psmd10	T	C	X: 140,949,303	*152W	probably null	Het
Ptpn23	A	C	9: 110,389,245	M600R	probably benign	Het
Pxmp4	C	T	2: 154,588,049	R140H	probably damaging	Het
Rnf112	T	C	11: 61,450,385	E410G	probably damaging	Het
Samd9l	T	A	6: 3,376,830	K144*	probably null	Het
Slc46a3	C	T	5: 147,886,454	E193K	probably benign	Het
Snap23	A	C	2: 120,599,334	D209A	possibly damaging	Het
Tg	C	T	15: 66,766,162	Q656*	probably null	Het
Tshz2	A	G	2: 169,884,387	Y301C	probably damaging	Het
Ttn	T	A	2: 76,840,294		probably benign	Het
Unc80	C	T	1: 66,639,296	Q2011*	probably null	Het
Vwa3a	A	G	7: 120,758,876	T57A	probably benign	Het
Zfp518a	C	T	19: 40,914,920	Q1098*	probably null	Het

Other mutations in Pcgf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Pcgf5	APN	19	36442868	missense	probably damaging	1.00
IGL03184:Pcgf5	APN	19	36434676	splice site	probably benign
IGL03259:Pcgf5	APN	19	36455659	missense	probably benign	0.28
whalebone	UTSW	19	36442939	nonsense	probably null
R0318:Pcgf5	UTSW	19	36412190	missense	possibly damaging	0.81
R0570:Pcgf5	UTSW	19	36412180	missense	probably benign	0.00
R0890:Pcgf5	UTSW	19	36412144	missense	probably benign	0.05
R2238:Pcgf5	UTSW	19	36437354	missense	probably damaging	0.97
R2239:Pcgf5	UTSW	19	36437354	missense	probably damaging	0.97
R4050:Pcgf5	UTSW	19	36442911	missense	probably damaging	0.99
R4209:Pcgf5	UTSW	19	36437340	missense	possibly damaging	0.81
R4210:Pcgf5	UTSW	19	36437340	missense	possibly damaging	0.81
R4211:Pcgf5	UTSW	19	36437340	missense	possibly damaging	0.81
R5202:Pcgf5	UTSW	19	36437183	missense	probably damaging	1.00
R5997:Pcgf5	UTSW	19	36434603	missense	probably benign	0.35
R6039:Pcgf5	UTSW	19	36442906	missense	probably damaging	1.00
R6039:Pcgf5	UTSW	19	36442906	missense	probably damaging	1.00
R7060:Pcgf5	UTSW	19	36442939	nonsense	probably null
R8076:Pcgf5	UTSW	19	36440083	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTCAGTCTTCAGAGAGGTTATG -3'
(R):5'- ACTAGATGGTGGCACTGGTC -3'

Sequencing Primer
(F):5'- ATGAAATATTTTAGGTTGGTCATTGC -3'
(R):5'- CACTGGTCTGGGAGAACTG -3'

Posted On

2015-04-17