Mutagenetix > Incidental Mutations

Incidental Mutation 'R5795:Paf1'

447172

Institutional Source

Beutler Lab

Gene Symbol

Paf1

Ensembl Gene

ENSMUSG00000003437

Gene Name

Paf1, RNA polymerase II complex component

Synonyms

5730511K23Rik

MMRRC Submission

043386-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5795 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28392951-28399388 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 28396618 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 250 (M250R)

Ref Sequence

ENSEMBL: ENSMUSP00000003529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003529] [ENSMUST00000003536] [ENSMUST00000040531] [ENSMUST00000207766] [ENSMUST00000208126] [ENSMUST00000208199]

AlphaFold

Q8K2T8

Predicted Effect

probably damaging
Transcript: ENSMUST00000003529
AA Change: M250R

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000003529
Gene: ENSMUSG00000003437
AA Change: M250R

Domain	Start	End	E-Value	Type
Pfam:Paf1	28	441	2.3e-154	PFAM
low complexity region	456	470	N/A	INTRINSIC
low complexity region	476	511	N/A	INTRINSIC
low complexity region	514	535	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000003536

SMART Domains

Protein: ENSMUSP00000003536
Gene: ENSMUSG00000003444

Domain	Start	End	E-Value	Type
Pfam:Med29	51	186	7.3e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000040531

SMART Domains

Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336

Domain	Start	End	E-Value	Type
low complexity region	81	90	N/A	INTRINSIC
low complexity region	174	190	N/A	INTRINSIC
low complexity region	200	211	N/A	INTRINSIC
low complexity region	278	290	N/A	INTRINSIC
SAM	296	359	1.02e-9	SMART
low complexity region	406	420	N/A	INTRINSIC
low complexity region	433	461	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146886

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146913

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152512

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154823

Predicted Effect

probably benign
Transcript: ENSMUST00000207766

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208885

Predicted Effect

probably benign
Transcript: ENSMUST00000208126

Predicted Effect

probably benign
Transcript: ENSMUST00000208199

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the polymerase associated factor (PAF1) complex. The PAF1 complex interacts with RNA polymerase II and plays a role in transcription elongation as well as histone modifications including ubiquitylation and methylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acpp	A	G	9: 104,309,489	V261A	probably benign	Het
Adipor1	C	A	1: 134,424,903	N137K	probably damaging	Het
Ahnak	A	T	19: 9,012,382	K3677*	probably null	Het
Ankrd24	C	A	10: 81,645,103		probably benign	Het
Appl1	G	T	14: 26,942,816	P420Q	probably benign	Het
Bmp8b	C	A	4: 123,121,968	F249L	possibly damaging	Het
Brat1	G	T	5: 140,713,072	A275S	probably benign	Het
C5ar1	T	C	7: 16,248,394	K234E	possibly damaging	Het
Ccs	A	G	19: 4,833,339		probably null	Het
Chmp5	T	G	4: 40,950,562		probably null	Het
Chrna3	T	A	9: 55,015,268	T419S	probably benign	Het
Crocc	TCTGAGCTGCTGAGCTGC	TCTGAGCTGC	4: 141,041,807		probably null	Het
Csf3	G	T	11: 98,702,027	C72F	probably damaging	Het
Dbndd1	A	G	8: 123,509,880	I83T	probably damaging	Het
Ercc6	A	G	14: 32,526,352	K287E	probably damaging	Het
F5	C	T	1: 164,152,009	T16I	probably benign	Het
Gif	A	G	19: 11,760,376	T384A	probably damaging	Het
Gm14085	T	C	2: 122,517,994	M274T	possibly damaging	Het
Hephl1	C	T	9: 15,069,760	G792E	probably damaging	Het
Hmmr	T	A	11: 40,721,906	D158V	probably damaging	Het
Hsd11b1	A	G	1: 193,240,632	S76P	possibly damaging	Het
Ilvbl	T	C	10: 78,577,144	S167P	probably benign	Het
Irf7	G	A	7: 141,265,116	P118L	probably damaging	Het
Lama1	A	G	17: 67,796,727	N1981S	probably benign	Het
Lrp4	A	G	2: 91,474,471	D224G	probably benign	Het
Mink1	T	C	11: 70,607,790	Y594H	possibly damaging	Het
Minpp1	G	A	19: 32,514,157	V412M	probably damaging	Het
Muc5b	G	A	7: 141,871,741	V4708M	possibly damaging	Het
Mycl	G	A	4: 122,996,622	E34K	probably damaging	Het
Oaf	T	A	9: 43,223,944	D179V	probably damaging	Het
Ogfod2	G	A	5: 124,114,761	G278D	probably damaging	Het
Olfr1448	A	G	19: 12,919,824	F162L	possibly damaging	Het
Olfr91	A	G	17: 37,093,769	L35P	probably damaging	Het
Pcdh8	T	C	14: 79,770,980	T48A	possibly damaging	Het
Pdzph1	A	G	17: 58,885,867	V1096A	possibly damaging	Het
Polr3b	A	T	10: 84,628,252	E25D	probably benign	Het
Polr3b	T	C	10: 84,677,011	S586P	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384		probably benign	Het
Slc31a2	T	C	4: 62,297,052	V112A	probably damaging	Het
Spire1	A	T	18: 67,495,195	S412T	probably benign	Het
Tanc1	A	G	2: 59,807,582	T876A	possibly damaging	Het
Tango6	T	A	8: 106,718,077	L538H	probably damaging	Het
Tas2r125	G	A	6: 132,909,658	G3D	probably damaging	Het
Tbc1d32	A	T	10: 56,215,062	M125K	possibly damaging	Het
Traf5	T	C	1: 191,999,846	S345G	probably benign	Het
Ush2a	A	T	1: 188,443,397	I1231F	probably benign	Het
Vmn2r104	G	T	17: 20,030,110	T633N	probably benign	Het
Vmn2r104	A	G	17: 20,030,282	S576P	possibly damaging	Het
Vmn2r105	A	T	17: 20,228,736	C60S	probably benign	Het
Zfp316	A	T	5: 143,262,839	D217E	unknown	Het
Zfp456	A	T	13: 67,366,920	D222E	probably benign	Het

Other mutations in Paf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02117:Paf1	APN	7	28398690	unclassified	probably benign
IGL02583:Paf1	APN	7	28396171	missense	probably damaging	0.98
IGL02965:Paf1	APN	7	28396204	critical splice donor site	probably null
IGL03117:Paf1	APN	7	28395056	missense	possibly damaging	0.92
K3955:Paf1	UTSW	7	28396925	splice site	probably null
P0038:Paf1	UTSW	7	28396925	splice site	probably null
R0445:Paf1	UTSW	7	28395688	missense	probably damaging	1.00
R1389:Paf1	UTSW	7	28398832	unclassified	probably benign
R1808:Paf1	UTSW	7	28396822	missense	probably damaging	1.00
R2006:Paf1	UTSW	7	28395768	splice site	probably null
R5213:Paf1	UTSW	7	28395972	missense	possibly damaging	0.71
R5413:Paf1	UTSW	7	28396615	missense	possibly damaging	0.82
R5419:Paf1	UTSW	7	28395670	missense	possibly damaging	0.68
R7378:Paf1	UTSW	7	28396928	missense	probably damaging	1.00
R7502:Paf1	UTSW	7	28395868	missense	possibly damaging	0.91
R7629:Paf1	UTSW	7	28395068	missense	probably damaging	1.00
R7896:Paf1	UTSW	7	28396647	missense	probably damaging	1.00
R9013:Paf1	UTSW	7	28398708	missense	unknown
R9430:Paf1	UTSW	7	28396906	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- AGGCCATGATCAGGTCTGTG -3'
(R):5'- TCATGAGGAGGAGACATACTTCTG -3'

Sequencing Primer
(F):5'- CCATGATCAGGTCTGTGGTCTTG -3'
(R):5'- TGAGGAGGAGACATACTTCTGAATTC -3'

Posted On

2016-12-15