Mutagenetix > Incidental Mutation

Incidental Mutation 'R1576:Polr2j'

171159

Institutional Source

Beutler Lab

Gene Symbol

Polr2j

Ensembl Gene

ENSMUSG00000039771

Gene Name

polymerase (RNA) II (DNA directed) polypeptide J

Synonyms

Rpo2-4, Rpb11a, RNA polymerase II subunit RPB14, 14.5kDa

MMRRC Submission

039614-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.506) question?

Stock #

R1576 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136145545-136151801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 136148882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 29 (N29K)

Ref Sequence

ENSEMBL: ENSMUSP00000038505 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006301] [ENSMUST00000041366] [ENSMUST00000111127] [ENSMUST00000111129]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000006301

SMART Domains

Protein: ENSMUSP00000006301
Gene: ENSMUSG00000029703

Domain	Start	End	E-Value	Type
low complexity region	25	38	N/A	INTRINSIC
LRR_TYP	46	69	3.16e-3	SMART
LRR	90	113	1.58e2	SMART
WD40	271	327	6.36e1	SMART
Blast:WD40	330	380	2e-12	BLAST
WD40	383	423	1.49e-7	SMART
WD40	434	473	2.28e2	SMART
Blast:WD40	484	527	6e-15	BLAST
WD40	542	583	1.42e2	SMART
low complexity region	591	602	N/A	INTRINSIC
Blast:WD40	603	646	8e-14	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000041366
AA Change: N29K

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

SMART Domains

Protein: ENSMUSP00000038505
Gene: ENSMUSG00000039771
AA Change: N29K

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_L_2	30	104	5.3e-32	PFAM
Pfam:RNA_pol_L	32	98	4.2e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111127
AA Change: N29K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106757
Gene: ENSMUSG00000039771
AA Change: N29K

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_L_2	29	105	3.6e-33	PFAM
Pfam:RNA_pol_L	31	99	1.8e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111129

SMART Domains

Protein: ENSMUSP00000106759
Gene: ENSMUSG00000039771

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_L	17	69	2.7e-9	PFAM
Pfam:RNA_pol_L_2	17	75	1.8e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128255

SMART Domains

Protein: ENSMUSP00000119546
Gene: ENSMUSG00000029703

Domain	Start	End	E-Value	Type
Blast:WD40	13	66	2e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132976

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199799

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.1%

Validation Efficiency

100% (49/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene exists as a heterodimer with another polymerase subunit; together they form a core subassembly unit of the polymerase. Two similar genes are located nearby on chromosome 7q22.1 and a pseudogene is found on chromosome 7p13. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3m2	G	A	8: 23,298,483 (GRCm39)		probably benign	Het
Apol11a	T	A	15: 77,401,131 (GRCm39)	I206N	probably damaging	Het
Arfgap3	A	G	15: 83,197,764 (GRCm39)	S331P	possibly damaging	Het
Arhgef16	A	C	4: 154,375,769 (GRCm39)	L75R	probably damaging	Het
Cfi	T	C	3: 129,666,699 (GRCm39)	V474A	probably damaging	Het
Dhx8	T	C	11: 101,643,145 (GRCm39)	V739A	probably damaging	Het
Dpy19l2	T	A	9: 24,495,798 (GRCm39)	H640L	probably benign	Het
Eif4g3	T	A	4: 137,824,181 (GRCm39)	M57K	probably damaging	Het
Emilin2	A	G	17: 71,562,112 (GRCm39)		probably null	Het
Epc1	T	C	18: 6,452,366 (GRCm39)	E281G	possibly damaging	Het
Fancd2	G	T	6: 113,555,366 (GRCm39)	S1125I	probably damaging	Het
Fh1	G	A	1: 175,435,385 (GRCm39)	P366L	probably null	Het
Gata3	A	T	2: 9,868,007 (GRCm39)	S316T	probably damaging	Het
Hmcn1	A	T	1: 150,532,992 (GRCm39)	S3064T	possibly damaging	Het
Inpp5d	A	T	1: 87,597,407 (GRCm39)	T193S	probably benign	Het
Inpp5d	A	T	1: 87,609,280 (GRCm39)	I277F	probably damaging	Het
Itga5	T	C	15: 103,260,044 (GRCm39)	D616G	probably damaging	Het
Jade1	T	A	3: 41,546,242 (GRCm39)	V89E	probably damaging	Het
Lamb2	T	C	9: 108,357,506 (GRCm39)	S81P	probably damaging	Het
Lrrc19	G	A	4: 94,527,590 (GRCm39)	P207L	probably damaging	Het
Maea	A	G	5: 33,520,040 (GRCm39)	D147G	probably damaging	Het
Muc6	T	A	7: 141,214,437 (GRCm39)	E2767V	possibly damaging	Het
Myom2	A	G	8: 15,134,556 (GRCm39)	Y453C	probably damaging	Het
Naip2	A	T	13: 100,291,529 (GRCm39)	D1136E	probably benign	Het
Naip2	G	A	13: 100,291,537 (GRCm39)		probably benign	Het
Nap1l1	A	G	10: 111,330,681 (GRCm39)	D362G	probably damaging	Het
Nap1l4	C	T	7: 143,091,953 (GRCm39)		probably null	Het
Nudt21	A	C	8: 94,755,461 (GRCm39)		probably null	Het
Nufip1	A	G	14: 76,372,310 (GRCm39)	N475D	probably benign	Het
Pcdhb8	A	G	18: 37,489,756 (GRCm39)	D478G	probably damaging	Het
Pla2g4d	A	G	2: 120,114,648 (GRCm39)	S28P	probably damaging	Het
Ppp2r2a	A	G	14: 67,276,318 (GRCm39)		probably benign	Het
Ptprk	A	G	10: 28,427,647 (GRCm39)	D742G	probably damaging	Het
Pum2	A	G	12: 8,763,524 (GRCm39)	D227G	probably benign	Het
Rfxank	C	A	8: 70,586,953 (GRCm39)	R221L	possibly damaging	Het
Shank3	C	A	15: 89,387,866 (GRCm39)	Q317K	probably benign	Het
Slc22a17	A	G	14: 55,145,447 (GRCm39)	V460A	probably damaging	Het
Slc39a11	G	T	11: 113,450,361 (GRCm39)	D41E	probably damaging	Het
Spag17	T	C	3: 99,846,679 (GRCm39)	S68P	possibly damaging	Het
Sstr5	C	T	17: 25,710,272 (GRCm39)	C319Y	possibly damaging	Het
Stk17b	G	T	1: 53,796,749 (GRCm39)	D339E	probably damaging	Het
Tagln2	A	G	1: 172,332,788 (GRCm39)	D25G	probably benign	Het
Ttn	C	T	2: 76,625,194 (GRCm39)	V13417I	probably benign	Het
Vps50	A	G	6: 3,545,568 (GRCm39)	E334G	possibly damaging	Het
Zfp316	T	C	5: 143,249,849 (GRCm39)	E138G	unknown	Het
Zfp879	T	A	11: 50,724,376 (GRCm39)	T227S	probably benign	Het

Other mutations in Polr2j

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2085:Polr2j	UTSW	5	136,145,625 (GRCm39)	missense	probably damaging	0.99
R3498:Polr2j	UTSW	5	136,151,624 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- TTCTGAGGTAGTGGGAACAGCCCAAC -3'
(R):5'- CCTGACTTGATGTGAACCAAAAGACCG -3'

Sequencing Primer
(F):5'- GCCCAACTGCAGTTTCAAGAA -3'
(R):5'- ccagcagaggcaaggag -3'

Posted On

2014-04-13