Mutagenetix > Incidental Mutations

Incidental Mutation 'R1389:Paf1'

162529

Institutional Source

Beutler Lab

Gene Symbol

Paf1

Ensembl Gene

ENSMUSG00000003437

Gene Name

Paf1, RNA polymerase II complex component

Synonyms

5730511K23Rik

MMRRC Submission

039451-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1389 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28392951-28399388 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 28398832 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147037 (fasta)

Gene Model

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

AlphaFold

Q8K2T8

Predicted Effect

unknown
Transcript: ENSMUST00000003529
AA Change: E397G

SMART Domains

Protein: ENSMUSP00000003529
Gene: ENSMUSG00000003437
AA Change: E397G

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: 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

probably benign
Transcript: ENSMUST00000208126

Predicted Effect

probably benign
Transcript: ENSMUST00000208199

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.6%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	A	C	1: 78,688,282	I142L	probably benign	Het
Adgra2	C	T	8: 27,111,088	P252L	probably damaging	Het
Akap6	A	G	12: 53,139,520	E1239G	probably benign	Het
Arhgef17	TGGAGGAGGAGGAGGAGG	TGGAGGAGGAGGAGG	7: 100,931,037		probably benign	Het
Btbd11	A	G	10: 85,640,596	T914A	possibly damaging	Het
Calml4	A	T	9: 62,871,266	D12V	probably damaging	Het
Car9	G	T	4: 43,512,439		probably null	Het
Ccar2	C	A	14: 70,140,109	V699L	possibly damaging	Het
Ccdc27	T	C	4: 154,041,769	M88V	unknown	Het
Ceacam15	T	C	7: 16,672,063	R188G	probably damaging	Het
Dcaf8	G	A	1: 172,174,052	R272H	probably benign	Het
Dchs1	A	G	7: 105,755,571	V2588A	probably benign	Het
Dst	G	A	1: 34,211,232	R1749H	probably damaging	Het
Exog	A	G	9: 119,462,506	Q283R	probably benign	Het
Fmnl1	A	T	11: 103,186,709		probably null	Het
Gramd1c	T	C	16: 43,990,722	D213G	probably damaging	Het
Iqgap1	A	G	7: 80,759,756		probably null	Het
Itgae	A	G	11: 73,125,362	Y799C	probably damaging	Het
Kalrn	T	C	16: 33,988,803	I903V	probably benign	Het
Kcnh1	A	G	1: 192,505,763	E844G	probably benign	Het
Khdc1a	A	T	1: 21,350,027	D3V	probably damaging	Het
Ly6g	T	C	15: 75,156,766	F25S	probably benign	Het
Mapk1ip1	G	A	7: 138,836,727		probably benign	Het
Mfsd3	A	G	15: 76,702,689	H243R	probably benign	Het
Mms22l	T	A	4: 24,591,076	Y1016N	probably damaging	Het
Mrgprb5	A	T	7: 48,168,330	V219E	probably damaging	Het
Nars2	G	A	7: 97,002,829	S209N	probably benign	Het
Nckap5	T	C	1: 126,026,710	T702A	probably damaging	Het
Olfr385	T	C	11: 73,589,543	N65S	possibly damaging	Het
Prl3d1	A	T	13: 27,098,710	R145*	probably null	Het
Rasl10b	G	A	11: 83,417,839		probably null	Het
Rnf13	T	A	3: 57,779,496	N103K	probably damaging	Het
Senp1	T	C	15: 98,075,853	S170G	probably benign	Het
Slc46a2	A	G	4: 59,914,620	L101P	probably damaging	Het
Tmem123	C	T	9: 7,791,106	T136M	probably damaging	Het
Tpo	T	A	12: 30,103,110	H415L	probably damaging	Het
Vipr2	A	G	12: 116,137,330	I255V	probably benign	Het
Zc3h11a	A	T	1: 133,633,803	V310E	probably damaging	Het
Zfp3	T	A	11: 70,772,636	C474S	probably damaging	Het
Zfp707	T	A	15: 75,974,616	C99S	probably damaging	Het
Zranb1	C	T	7: 132,971,333	P410S	probably damaging	Het
Zswim8	G	T	14: 20,710,748	R30L	probably damaging	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
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
R5795:Paf1	UTSW	7	28396618	missense	probably damaging	0.97
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'- TGCTGGTTTCAGGAGGCACGAAAG -3'
(R):5'- CAATCACTGTCACTGTCAGCCTCAC -3'

Sequencing Primer
(F):5'- AGGCACGAAAGGCCCAG -3'
(R):5'- GTCAGCCTCACTGGAATCAGAG -3'

Posted On

2014-03-17