Mutagenetix > Incidental Mutation

Incidental Mutation 'R9430:Paf1'

712878

Institutional Source

Beutler Lab

Gene Symbol

Paf1

Ensembl Gene

ENSMUSG00000003437

Gene Name

Paf1, RNA polymerase II complex component

Synonyms

5730511K23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9430 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28092376-28098813 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 28096331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 315 (F315V)

Ref Sequence

ENSEMBL: ENSMUSP00000003529 (fasta)

Gene Model

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

AlphaFold

Q8K2T8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003529
AA Change: F315V

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000003529
Gene: ENSMUSG00000003437
AA Change: F315V

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

probably benign
Transcript: ENSMUST00000207766

Predicted Effect

probably benign
Transcript: ENSMUST00000208126

Predicted Effect

probably benign
Transcript: ENSMUST00000208199

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	C	1: 59,231,198 (GRCm39)	N804K	probably benign	Het
Arid5b	C	A	10: 68,022,087 (GRCm39)		probably null	Het
Brd2	T	C	17: 34,331,610 (GRCm39)	D779G	unknown	Het
Brox	A	T	1: 183,069,353 (GRCm39)	V118E	probably damaging	Het
Ccdc137	A	T	11: 120,349,530 (GRCm39)	E76V	probably damaging	Het
Ccdc150	A	G	1: 54,320,930 (GRCm39)	K327E	probably damaging	Het
Ccdc171	A	G	4: 83,522,362 (GRCm39)	E342G	probably damaging	Het
Cd109	G	A	9: 78,574,698 (GRCm39)		probably null	Het
Cep85	C	A	4: 133,894,665 (GRCm39)	R47L	probably damaging	Het
Cgrrf1	T	A	14: 47,091,331 (GRCm39)	V285E	probably damaging	Het
Ctu1	T	C	7: 43,326,042 (GRCm39)	S234P	probably damaging	Het
Dnah3	G	A	7: 119,628,205 (GRCm39)	T1484I	probably damaging	Het
Dusp16	G	T	6: 134,737,829 (GRCm39)	Q70K	probably damaging	Het
Eri3	T	G	4: 117,439,868 (GRCm39)	Y187*	probably null	Het
Evi2a	T	A	11: 79,418,523 (GRCm39)	Y29F	possibly damaging	Het
Ext2	A	G	2: 93,592,999 (GRCm39)	S402P	possibly damaging	Het
Fam76a	T	A	4: 132,645,055 (GRCm39)	Q60L	probably damaging	Het
Fat3	T	C	9: 16,287,381 (GRCm39)	N714S	probably damaging	Het
Fbxw24	T	A	9: 109,439,038 (GRCm39)	N179I	probably damaging	Het
Fras1	A	G	5: 96,929,251 (GRCm39)	N3885S	probably benign	Het
Grip2	A	T	6: 91,784,265 (GRCm39)	V12E	probably benign	Het
Gse1	A	T	8: 121,299,049 (GRCm39)	Y766F	unknown	Het
Herc1	C	T	9: 66,325,785 (GRCm39)	Q1420*	probably null	Het
Htr1f	T	A	16: 64,746,831 (GRCm39)	I154F	probably damaging	Het
Hus1b	G	T	13: 31,131,587 (GRCm39)	A24E	probably damaging	Het
Igkv17-127	A	G	6: 67,838,441 (GRCm39)	I51V	probably damaging	Het
Ilk	G	T	7: 105,390,072 (GRCm39)	R149L	probably benign	Het
Inpp5b	T	A	4: 124,636,340 (GRCm39)	V5E	possibly damaging	Het
Jak2	A	T	19: 29,265,367 (GRCm39)	S465C	possibly damaging	Het
Kif23	T	C	9: 61,834,722 (GRCm39)	T394A	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lama4	A	G	10: 38,921,802 (GRCm39)	D441G	probably null	Het
Ldhd	A	G	8: 112,356,680 (GRCm39)	L27P	possibly damaging	Het
Lingo1	A	G	9: 56,527,512 (GRCm39)	I365T	probably benign	Het
Lyz2	C	A	10: 117,118,077 (GRCm39)	C24F	possibly damaging	Het
Map1b	T	A	13: 99,570,616 (GRCm39)	T702S	unknown	Het
Map4	T	A	9: 109,863,760 (GRCm39)	D328E	probably benign	Het
Matn1	C	T	4: 130,673,278 (GRCm39)	T82M	probably damaging	Het
Mfrp	T	C	9: 44,014,570 (GRCm39)	V239A	probably damaging	Het
Misp	G	T	10: 79,661,675 (GRCm39)	V31F	probably benign	Het
Muc5ac	C	T	7: 141,362,569 (GRCm39)	T1960I	unknown	Het
Myh2	T	A	11: 67,070,359 (GRCm39)	M434K	probably benign	Het
Myh3	T	A	11: 66,982,726 (GRCm39)	I815N	possibly damaging	Het
Myo18a	A	G	11: 77,709,410 (GRCm39)	M507V	possibly damaging	Het
Nbas	T	A	12: 13,371,654 (GRCm39)	S385T	probably benign	Het
Nepro	G	A	16: 44,552,460 (GRCm39)	R319K	possibly damaging	Het
Nlrc3	A	T	16: 3,783,396 (GRCm39)	C53S	probably benign	Het
Nudt17	A	G	3: 96,614,224 (GRCm39)		probably null	Het
Nwd2	T	G	5: 63,964,665 (GRCm39)	C1416W	probably damaging	Het
Ocln	A	C	13: 100,676,356 (GRCm39)	F46V	possibly damaging	Het
Or52n3	A	T	7: 104,530,204 (GRCm39)	N97Y	possibly damaging	Het
Or5be3	A	T	2: 86,864,253 (GRCm39)	V104D	probably damaging	Het
Osbpl5	T	C	7: 143,263,526 (GRCm39)	K119R	probably benign	Het
Parp4	T	A	14: 56,866,673 (GRCm39)	V1079D	probably damaging	Het
Pcgf6	C	T	19: 47,039,219 (GRCm39)	A14T	unknown	Het
Plcxd1	A	G	5: 110,251,368 (GRCm39)	T315A	probably benign	Het
Plxnc1	A	G	10: 94,758,544 (GRCm39)	V384A	probably benign	Het
Polm	G	A	11: 5,784,749 (GRCm39)	T236I	probably damaging	Het
Prl7d1	T	C	13: 27,898,360 (GRCm39)	T50A	possibly damaging	Het
Reln	T	C	5: 22,120,105 (GRCm39)	D2849G	probably damaging	Het
Sec16b	C	T	1: 157,394,894 (GRCm39)	R1045C	probably damaging	Het
Six4	A	G	12: 73,150,719 (GRCm39)	S609P	possibly damaging	Het
Slc25a31	A	T	3: 40,679,297 (GRCm39)		probably null	Het
Slc4a2	A	G	5: 24,636,317 (GRCm39)	N230S	probably benign	Het
Sorcs1	T	C	19: 50,199,208 (GRCm39)	Y785C	probably damaging	Het
Styxl1	A	G	5: 135,784,259 (GRCm39)		probably null	Het
Synm	C	T	7: 67,383,181 (GRCm39)	V1494M	possibly damaging	Het
Taf7l2	A	T	10: 115,949,282 (GRCm39)	D81E	probably damaging	Het
Tamm41	A	G	6: 114,993,063 (GRCm39)	M230T	probably benign	Het
Tbc1d12	T	G	19: 38,884,490 (GRCm39)	M347R	probably damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tm4sf1	A	C	3: 57,197,214 (GRCm39)	S164A	probably damaging	Het
Trim67	A	G	8: 125,552,956 (GRCm39)	H686R	probably damaging	Het
Trpm1	T	C	7: 63,873,446 (GRCm39)	L567P	probably benign	Het
Tsfm	A	G	10: 126,858,771 (GRCm39)	L198P	probably damaging	Het
Ttc6	A	T	12: 57,733,193 (GRCm39)	D1112V	probably damaging	Het
Ttn	A	G	2: 76,601,922 (GRCm39)	V18580A	probably benign	Het
Ubr1	C	A	2: 120,734,506 (GRCm39)	Q1131H	possibly damaging	Het
Uhrf2	C	T	19: 30,016,659 (GRCm39)	R117C	probably benign	Het
Vmn2r70	A	G	7: 85,215,240 (GRCm39)	V98A	probably benign	Het
Zfp799	T	C	17: 33,039,186 (GRCm39)	E360G	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGACTATGCACCAGATGATGTG -3'
(R):5'- CCAGCCTACATTTATAAGCAGGC -3'

Sequencing Primer
(F):5'- CTATGCACCAGATGATGTGTAAGTG -3'
(R):5'- AAACAGTGCCGAGTACCT -3'

Posted On

2022-05-16