Mutagenetix > Incidental Mutation

Incidental Mutation 'R3498:Polr2j'

273649

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

040661-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.506) question?

Stock #

R3498 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136145545-136151801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136151624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 116 (I116T)

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 benign
Transcript: ENSMUST00000041366
AA Change: I116T

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000038505
Gene: ENSMUSG00000039771
AA Change: I116T

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 benign
Transcript: ENSMUST00000111127

SMART Domains

Protein: ENSMUSP00000106757
Gene: ENSMUSG00000039771

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
AA Change: I86T

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106759
Gene: ENSMUSG00000039771
AA Change: I86T

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

0.1186

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (43/43)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	T	C	4: 128,649,350 (GRCm39)	F6L	probably benign	Het
Aurkc	A	G	7: 7,003,029 (GRCm39)	I175V	probably damaging	Het
Azi2	A	G	9: 117,878,475 (GRCm39)	D105G	probably damaging	Het
Bcat1	A	G	6: 144,965,068 (GRCm39)	V45A	probably damaging	Het
Cass4	C	T	2: 172,274,478 (GRCm39)	P753L	probably damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Ddx42	A	G	11: 106,122,019 (GRCm39)	E178G	possibly damaging	Het
Dmpk	T	C	7: 18,820,306 (GRCm39)	I101T	probably damaging	Het
Dnah17	C	T	11: 117,971,675 (GRCm39)		probably benign	Het
Fosb	C	T	7: 19,040,557 (GRCm39)	R161H	probably damaging	Het
Gm6729	T	C	10: 86,376,582 (GRCm39)		noncoding transcript	Het
Gnb1	T	A	4: 155,639,483 (GRCm39)	N237K	possibly damaging	Het
Gpr35	A	G	1: 92,911,113 (GRCm39)	Y275C	probably damaging	Het
Hmcn1	A	T	1: 150,480,853 (GRCm39)	I4441N	probably damaging	Het
Ighe	G	A	12: 113,234,994 (GRCm39)	Q389*	probably null	Het
Kcnj11	T	C	7: 45,749,026 (GRCm39)	D23G	probably damaging	Het
Lats2	G	T	14: 57,959,923 (GRCm39)	A191E	possibly damaging	Het
Lyplal1	A	G	1: 185,820,857 (GRCm39)	S197P	possibly damaging	Het
Map4	G	T	9: 109,864,280 (GRCm39)	V502L	probably benign	Het
Mgat5	A	G	1: 127,312,571 (GRCm39)	M237V	possibly damaging	Het
Mindy4	A	G	6: 55,193,510 (GRCm39)	R68G	probably benign	Het
Nell1	T	A	7: 49,907,927 (GRCm39)	V362E	possibly damaging	Het
Or5m8	T	A	2: 85,822,774 (GRCm39)	F204L	probably benign	Het
Or6c66b	T	A	10: 129,376,778 (GRCm39)	I124N	probably damaging	Het
P4ha2	T	C	11: 54,010,079 (GRCm39)	Y279H	probably benign	Het
Pcid2	A	G	8: 13,150,413 (GRCm39)	V13A	possibly damaging	Het
Prdm9	A	G	17: 15,783,207 (GRCm39)		probably benign	Het
Prr5	T	A	15: 84,587,345 (GRCm39)	V365E	probably benign	Het
Ptprf	A	T	4: 118,082,127 (GRCm39)	I1037N	probably damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,169,203 (GRCm39)		probably benign	Het
Sde2	T	A	1: 180,685,750 (GRCm39)	C101S	probably damaging	Het
Sec1	T	C	7: 45,328,663 (GRCm39)	H128R	probably damaging	Het
Serpinb6a	A	T	13: 34,102,764 (GRCm39)	M253K	probably damaging	Het
Slc1a4	A	T	11: 20,263,973 (GRCm39)	I248N	probably damaging	Het
Slc22a4	T	G	11: 53,882,879 (GRCm39)	K328N	probably benign	Het
Slc24a4	A	T	12: 102,200,951 (GRCm39)	K278N	probably benign	Het
Slc6a21	T	A	7: 44,930,266 (GRCm39)	W222R	probably damaging	Het
Slc7a2	A	G	8: 41,365,567 (GRCm39)	E466G	probably benign	Het
Sspo	A	G	6: 48,444,914 (GRCm39)	T2133A	possibly damaging	Het
Taco1	A	G	11: 105,963,364 (GRCm39)	M172V	probably benign	Het
Tmem127	T	A	2: 127,098,040 (GRCm39)	H36Q	probably benign	Het
Tmem229b-ps	C	T	10: 53,351,223 (GRCm39)		noncoding transcript	Het
Vac14	A	G	8: 111,397,722 (GRCm39)	D479G	probably benign	Het
Vmn1r176	T	A	7: 23,534,667 (GRCm39)	K162I	probably benign	Het

Other mutations in Polr2j

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1576:Polr2j	UTSW	5	136,148,882 (GRCm39)	missense	probably damaging	1.00
R2085:Polr2j	UTSW	5	136,145,625 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TACCTGGAGCCTTTGGAGACTG -3'
(R):5'- TTGGTTAACTCAGGCAGGCC -3'

Sequencing Primer
(F):5'- AGCCTTTGGAGACTGGTCCAC -3'
(R):5'- GTCTGAGTGACAGTCCACAC -3'

Posted On

2015-04-02