Mutagenetix > Incidental Mutation

Incidental Mutation 'R1808:Paf1'

203598

Institutional Source

Beutler Lab

Gene Symbol

Paf1

Ensembl Gene

ENSMUSG00000003437

Gene Name

Paf1, RNA polymerase II complex component

Synonyms

5730511K23Rik

MMRRC Submission

039837-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28092376-28098813 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28096247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 287 (Y287H)

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: Y287H

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

SMART Domains

Protein: ENSMUSP00000003529
Gene: ENSMUSG00000003437
AA Change: Y287H

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: ENSMUST00000146886

Predicted Effect

probably benign
Transcript: ENSMUST00000207766

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208885

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152512

Predicted Effect

probably benign
Transcript: ENSMUST00000208126

Predicted Effect

probably benign
Transcript: ENSMUST00000208199

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154823

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146913

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146604

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.1%
20x: 91.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	G	T	5: 146,121,691 (GRCm39)	Y69*	probably null	Het
2310011J03Rik	A	G	10: 80,156,015 (GRCm39)		probably null	Het
A2ml1	A	C	6: 128,520,262 (GRCm39)	D1367E	probably damaging	Het
Adam6a	C	G	12: 113,508,334 (GRCm39)	L236V	probably benign	Het
Arf3	T	C	15: 98,638,954 (GRCm39)	N101S	probably benign	Het
Arhgap42	T	C	9: 9,180,051 (GRCm39)	E76G	probably damaging	Het
Atp2a1	A	G	7: 126,052,573 (GRCm39)	F382S	probably damaging	Het
Bud13	T	A	9: 46,199,705 (GRCm39)	F355L	probably benign	Het
C2	G	A	17: 35,083,508 (GRCm39)	P349S	probably damaging	Het
Cbl	C	A	9: 44,075,526 (GRCm39)	G373V	probably damaging	Het
Ccdc3	T	A	2: 5,142,896 (GRCm39)	L51Q	probably damaging	Het
Ccdc34	T	A	2: 109,874,601 (GRCm39)	M320K	probably benign	Het
Cntln	A	G	4: 85,015,000 (GRCm39)	E1097G	probably damaging	Het
Ctsc	A	C	7: 87,948,750 (GRCm39)	K195Q	possibly damaging	Het
Ctsf	C	T	19: 4,906,562 (GRCm39)	P163L	probably benign	Het
Dcxr	A	T	11: 120,616,438 (GRCm39)		probably null	Het
Dgki	T	C	6: 37,126,509 (GRCm39)	E157G	possibly damaging	Het
Dnah8	T	C	17: 30,903,160 (GRCm39)	L933P	probably damaging	Het
Dtna	T	C	18: 23,702,697 (GRCm39)	L76P	probably damaging	Het
Fcgbp	T	A	7: 27,784,515 (GRCm39)	C192S	probably benign	Het
Galnt5	T	A	2: 57,916,137 (GRCm39)	D683E	probably benign	Het
Greb1l	G	A	18: 10,542,143 (GRCm39)	A1297T	probably benign	Het
Grik4	T	C	9: 42,540,322 (GRCm39)	N286S	probably benign	Het
Hrc	A	T	7: 44,986,202 (GRCm39)	E451V	probably damaging	Het
Hrh3	G	A	2: 179,741,577 (GRCm39)		probably benign	Het
Ints13	A	G	6: 146,455,695 (GRCm39)	I152T	probably damaging	Het
Irgm1	A	T	11: 48,757,259 (GRCm39)	V184D	probably damaging	Het
Itga5	C	T	15: 103,258,826 (GRCm39)	A791T	probably damaging	Het
Kcp	T	C	6: 29,505,654 (GRCm39)	T73A	probably benign	Het
Kidins220	A	G	12: 25,053,008 (GRCm39)	T433A	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Kmt2d	T	C	15: 98,764,567 (GRCm39)	D12G	probably damaging	Het
Mms19	A	G	19: 41,954,698 (GRCm39)	S74P	probably damaging	Het
Myh1	G	T	11: 67,102,300 (GRCm39)	E864*	probably null	Het
Nek1	A	G	8: 61,469,264 (GRCm39)	D107G	probably damaging	Het
Npc1	T	C	18: 12,327,149 (GRCm39)	N1149D	probably damaging	Het
Or14j6	T	A	17: 38,214,661 (GRCm39)	S75T	probably damaging	Het
Or3a1b	C	A	11: 74,012,257 (GRCm39)	S47R	probably damaging	Het
Or4k36	T	C	2: 111,146,343 (GRCm39)	V173A	probably benign	Het
Or5p79	A	C	7: 108,221,817 (GRCm39)	K266T	possibly damaging	Het
Osbp	T	C	19: 11,948,142 (GRCm39)	S150P	probably damaging	Het
Pdgfrb	T	C	18: 61,201,174 (GRCm39)	V420A	probably benign	Het
Pdss1	G	T	2: 22,796,846 (GRCm39)	E120*	probably null	Het
Pink1	A	T	4: 138,044,630 (GRCm39)	V339E	probably damaging	Het
Pkn3	C	T	2: 29,969,663 (GRCm39)	R58C	probably damaging	Het
Pm20d1	G	A	1: 131,730,165 (GRCm39)	V235I	probably benign	Het
Ppp2r2a	A	G	14: 67,276,412 (GRCm39)	I31T	probably damaging	Het
Rbms3	T	C	9: 116,651,894 (GRCm39)	E152G	probably damaging	Het
Rfx1	A	C	8: 84,821,677 (GRCm39)	Q804H	probably damaging	Het
Rpe	G	T	1: 66,754,356 (GRCm39)	V143L	probably benign	Het
Sap30l	G	T	11: 57,700,771 (GRCm39)	V142L	probably benign	Het
Sh3tc1	T	C	5: 35,863,268 (GRCm39)	Q973R	probably benign	Het
Slc10a2	T	C	8: 5,154,856 (GRCm39)	T110A	probably damaging	Het
Snrnp200	A	T	2: 127,060,947 (GRCm39)		probably null	Het
Snrnp200	G	A	2: 127,060,948 (GRCm39)		probably null	Het
Spaca3	T	A	11: 80,758,511 (GRCm39)	V158E	probably damaging	Het
Sprtn	C	A	8: 125,629,770 (GRCm39)	N354K	probably benign	Het
Stab1	T	A	14: 30,863,101 (GRCm39)	Y2166F	possibly damaging	Het
Tmem106c	G	A	15: 97,866,548 (GRCm39)		probably null	Het
Tnc	A	G	4: 63,918,168 (GRCm39)	S1248P	probably damaging	Het
Tshr	T	C	12: 91,504,090 (GRCm39)	F343L	probably benign	Het
Ttn	C	A	2: 76,555,698 (GRCm39)	A30436S	probably damaging	Het
Ubxn2a	A	T	12: 4,935,839 (GRCm39)	M68K	probably benign	Het
Ucp2	T	C	7: 100,148,021 (GRCm39)	V238A	probably damaging	Het
Urgcp	C	A	11: 5,667,242 (GRCm39)	L365F	probably damaging	Het
Vezt	A	T	10: 93,826,026 (GRCm39)	D328E	probably damaging	Het
Vmn1r168	G	T	7: 23,240,184 (GRCm39)	V14L	probably benign	Het
Vps13b	T	C	15: 35,792,205 (GRCm39)	F2158L	probably benign	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
P0038: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
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

Predicted Primers

PCR Primer
(F):5'- TTCTGCCTGTGGAAGAAACAC -3'
(R):5'- CAGCCTACATTTATAAGCAGGC -3'

Sequencing Primer
(F):5'- TTCTGCCTGTGGAAGAAACACTAAAG -3'
(R):5'- TAGTAAACTCCGTCACCC -3'

Posted On

2014-06-23