Mutagenetix > Incidental Mutation

Incidental Mutation 'P0038:Paf1'

7744

Institutional Source

Beutler Lab

Gene Symbol

Paf1

Ensembl Gene

ENSMUSG00000003437

Gene Name

Paf1, RNA polymerase II complex component

Synonyms

5730511K23Rik

MMRRC Submission

038287-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

P0038 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

28092376-28098813 bp(+) (GRCm39)

Type of Mutation

splice site (2597 bp from exon)

DNA Base Change (assembly)

T to C at 28096350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147037 (fasta)

Gene Model

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

AlphaFold

Q8K2T8

Predicted Effect

probably damaging
Transcript: ENSMUST00000003529
AA Change: V321A

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

SMART Domains

Protein: ENSMUSP00000003529
Gene: ENSMUSG00000003437
AA Change: V321A

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 null
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: ENSMUST00000208885

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154823

Predicted Effect

probably null
Transcript: ENSMUST00000208126

Predicted Effect

probably null
Transcript: ENSMUST00000208199

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146886

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146913

Predicted Effect

probably benign
Transcript: ENSMUST00000207766

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152512

Meta Mutation Damage Score

0.5588

Coding Region Coverage

1x: 79.6%
3x: 69.7%
10x: 40.2%
20x: 18.1%

Validation Efficiency

86% (80/93)

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: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad2b	C	A	12: 5,004,536 (GRCm39)		probably benign	Het
Atmin	T	A	8: 117,683,775 (GRCm39)	C478*	probably null	Het
Cdh13	G	A	8: 119,401,843 (GRCm39)	V82M	probably damaging	Het
Dip2c	A	C	13: 9,697,018 (GRCm39)	T1310P	probably damaging	Het
Eral1	A	T	11: 77,966,847 (GRCm39)	D189E	probably damaging	Het
Fstl5	A	G	3: 76,052,369 (GRCm39)	Y33C	probably damaging	Het
Gjb4	A	T	4: 127,245,293 (GRCm39)	V216D	probably benign	Het
Lars2	T	C	9: 123,206,842 (GRCm39)	V103A	probably damaging	Het
Mfsd12	C	T	10: 81,198,052 (GRCm39)	T311I	probably benign	Het
Mtrex	A	C	13: 113,047,513 (GRCm39)	Y277*	probably null	Het
Rfc1	T	C	5: 65,445,304 (GRCm39)	T435A	probably damaging	Het
Siglec1	T	C	2: 130,923,359 (GRCm39)	N462S	probably benign	Het
Tnks1bp1	C	T	2: 84,892,755 (GRCm39)	T232I	probably benign	Het
Trpc6	A	T	9: 8,649,512 (GRCm39)	N574I	possibly damaging	Het
Ttll7	T	C	3: 146,650,939 (GRCm39)	F700L	possibly damaging	Het
Zc3hav1	G	A	6: 38,309,469 (GRCm39)	T451M	probably damaging	Het

Other mutations in Paf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02117:Paf1	APN	7	28,098,115 (GRCm39)	unclassified	probably benign
IGL02583:Paf1	APN	7	28,095,596 (GRCm39)	missense	probably damaging	0.98
IGL02965:Paf1	APN	7	28,095,629 (GRCm39)	critical splice donor site	probably null
IGL03117:Paf1	APN	7	28,094,481 (GRCm39)	missense	possibly damaging	0.92
K3955:Paf1	UTSW	7	28,096,350 (GRCm39)	splice site	probably null
R0445:Paf1	UTSW	7	28,095,113 (GRCm39)	missense	probably damaging	1.00
R1389:Paf1	UTSW	7	28,098,257 (GRCm39)	unclassified	probably benign
R1808:Paf1	UTSW	7	28,096,247 (GRCm39)	missense	probably damaging	1.00
R2006:Paf1	UTSW	7	28,095,193 (GRCm39)	splice site	probably null
R5213:Paf1	UTSW	7	28,095,397 (GRCm39)	missense	possibly damaging	0.71
R5413:Paf1	UTSW	7	28,096,040 (GRCm39)	missense	possibly damaging	0.82
R5419:Paf1	UTSW	7	28,095,095 (GRCm39)	missense	possibly damaging	0.68
R5795:Paf1	UTSW	7	28,096,043 (GRCm39)	missense	probably damaging	0.97
R7378:Paf1	UTSW	7	28,096,353 (GRCm39)	missense	probably damaging	1.00
R7502:Paf1	UTSW	7	28,095,293 (GRCm39)	missense	possibly damaging	0.91
R7629:Paf1	UTSW	7	28,094,493 (GRCm39)	missense	probably damaging	1.00
R7896:Paf1	UTSW	7	28,096,072 (GRCm39)	missense	probably damaging	1.00
R9013:Paf1	UTSW	7	28,098,133 (GRCm39)	missense	unknown
R9430:Paf1	UTSW	7	28,096,331 (GRCm39)	missense	possibly damaging	0.50

Posted On

2012-10-29