Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02956:Polr2m'

365100

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Polr2m

Ensembl Gene

ENSMUSG00000032199

Gene Name

polymerase (RNA) II (DNA directed) polypeptide M

Synonyms

D9Wsu138e, Grinl1a

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

IGL02956

Quality Score

Status

Chromosome

Chromosomal Location

71385719-71393217 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71390911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 97 (D97G)

Ref Sequence

ENSEMBL: ENSMUSP00000034720 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034720] [ENSMUST00000163972] [ENSMUST00000163998] [ENSMUST00000164962] [ENSMUST00000165936] [ENSMUST00000166843] [ENSMUST00000169804]

AlphaFold

Q6P6I6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034720
AA Change: D97G

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034720
Gene: ENSMUSG00000032199
AA Change: D97G

Domain	Start	End	E-Value	Type
Pfam:GCOM2	28	239	2.1e-79	PFAM
coiled coil region	299	328	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163972

SMART Domains

Protein: ENSMUSP00000132335
Gene: ENSMUSG00000032199

Domain	Start	End	E-Value	Type
Pfam:GCOM2	1	142	1.6e-27	PFAM
coiled coil region	195	224	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163998

SMART Domains

Protein: ENSMUSP00000131267
Gene: ENSMUSG00000092137

Domain	Start	End	E-Value	Type
coiled coil region	105	138	N/A	INTRINSIC
coiled coil region	187	415	N/A	INTRINSIC
coiled coil region	483	512	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164962

SMART Domains

Protein: ENSMUSP00000131353
Gene: ENSMUSG00000092137

Domain	Start	End	E-Value	Type
Pfam:GCOM2	96	390	7.5e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165936

SMART Domains

Protein: ENSMUSP00000127356
Gene: ENSMUSG00000092137

Domain	Start	End	E-Value	Type
Pfam:GCOM2	96	379	4.2e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166843

SMART Domains

Protein: ENSMUSP00000128698
Gene: ENSMUSG00000092137

Domain	Start	End	E-Value	Type
Pfam:GCOM2	96	416	4.6e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169804

Coding Region Coverage

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 a specific form of RNA polymerase II termed Pol II(G). The encoded protein may act as a negative regulator of transcriptional activation by the Mediator complex. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 4. Readthrough transcription between this gene and the neighboring upstream gene MYZAP (myocardial zonula adherens protein) is represented with GeneID 145781. [provided by RefSeq, Oct 2013]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	C	T	2: 26,873,049 (GRCm39)	A339V	probably benign	Het
Adck2	T	C	6: 39,553,436 (GRCm39)	V349A	probably benign	Het
Akna	G	T	4: 63,304,516 (GRCm39)	T546K	probably benign	Het
Albfm1	A	G	5: 90,727,497 (GRCm39)	I372V	possibly damaging	Het
Ankrd29	T	C	18: 12,393,993 (GRCm39)	K274E	probably damaging	Het
Apc2	A	T	10: 80,142,209 (GRCm39)	N376I	probably damaging	Het
Cadps	A	G	14: 12,418,047 (GRCm38)		probably benign	Het
Cbl	T	C	9: 44,080,331 (GRCm39)	T243A	probably damaging	Het
Cep15	A	G	14: 12,287,326 (GRCm38)	N29S	probably benign	Het
Cfap52	T	C	11: 67,844,901 (GRCm39)	E56G	probably benign	Het
Chd5	C	A	4: 152,464,413 (GRCm39)	P1561Q	probably benign	Het
Dscam	A	G	16: 96,602,472 (GRCm39)	S657P	probably damaging	Het
Ece1	T	C	4: 137,690,149 (GRCm39)	F732L	probably damaging	Het
Eno2	T	C	6: 124,740,082 (GRCm39)	D199G	probably damaging	Het
Enpp3	A	G	10: 24,650,841 (GRCm39)		probably benign	Het
Fbxl15	G	T	19: 46,317,690 (GRCm39)	C124F	probably damaging	Het
Fermt3	T	C	19: 6,979,712 (GRCm39)	S474G	probably benign	Het
Fkbp6	T	C	5: 135,368,350 (GRCm39)	E252G	probably damaging	Het
Gm6625	A	T	8: 89,873,667 (GRCm39)		noncoding transcript	Het
Gnl1	T	C	17: 36,298,504 (GRCm39)	I416T	probably benign	Het
Gp1bb	C	A	16: 18,439,675 (GRCm39)	A140S	probably benign	Het
Grin2c	A	G	11: 115,148,785 (GRCm39)	V271A	possibly damaging	Het
Heatr1	T	A	13: 12,430,940 (GRCm39)	S1012T	possibly damaging	Het
Ighv5-6	T	A	12: 113,589,523 (GRCm39)		probably benign	Het
Itga10	A	G	3: 96,562,429 (GRCm39)	E737G	possibly damaging	Het
Lmod2	A	C	6: 24,603,631 (GRCm39)	N202T	probably damaging	Het
Lrp1	C	T	10: 127,380,428 (GRCm39)	V3908I	probably benign	Het
Lrrtm4	T	C	6: 79,998,633 (GRCm39)	V15A	probably benign	Het
Mup4	A	T	4: 59,959,263 (GRCm39)	D77E	probably benign	Het
Myh7b	A	T	2: 155,474,823 (GRCm39)	E1787V	probably damaging	Het
Myh7b	T	A	2: 155,467,874 (GRCm39)	M804K	possibly damaging	Het
Nup133	T	C	8: 124,675,822 (GRCm39)	S32G	probably benign	Het
Or13c7d	T	A	4: 43,770,399 (GRCm39)	N204I	probably benign	Het
Or52h1	T	C	7: 103,829,334 (GRCm39)	I94V	probably damaging	Het
Or7d10	T	C	9: 19,832,348 (GRCm39)	V281A	possibly damaging	Het
Or8b8	A	G	9: 37,809,404 (GRCm39)	K235E	probably damaging	Het
Pou2f3	A	G	9: 43,054,100 (GRCm39)		probably benign	Het
Rex1bd	C	A	8: 70,958,552 (GRCm39)	V72F	possibly damaging	Het
Rgp1	A	G	4: 43,581,505 (GRCm39)	T261A	possibly damaging	Het
Satb2	A	G	1: 56,987,334 (GRCm39)	F84L	probably damaging	Het
Sec14l1	G	A	11: 117,043,973 (GRCm39)	D494N	probably benign	Het
Spn	G	A	7: 126,736,432 (GRCm39)	T25M	probably damaging	Het
Trp73	G	A	4: 154,148,920 (GRCm39)		probably benign	Het
Tsc22d2	A	G	3: 58,324,967 (GRCm39)	T620A	unknown	Het
Zfp276	T	C	8: 123,981,483 (GRCm39)	L10P	probably damaging	Het
Zfp93	T	A	7: 23,974,400 (GRCm39)	N128K	probably benign	Het

Other mutations in Polr2m

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02810:Polr2m	APN	9	71,390,848 (GRCm39)	missense	probably benign	0.42
R1604:Polr2m	UTSW	9	71,390,959 (GRCm39)	missense	probably damaging	1.00
R4828:Polr2m	UTSW	9	71,391,050 (GRCm39)	missense	possibly damaging	0.65
R5748:Polr2m	UTSW	9	71,390,918 (GRCm39)	missense	probably benign	0.02
R5990:Polr2m	UTSW	9	71,386,602 (GRCm39)	splice site	probably null
R6042:Polr2m	UTSW	9	71,391,080 (GRCm39)	missense	probably damaging	0.98
R6476:Polr2m	UTSW	9	71,390,752 (GRCm39)	missense	probably benign	0.02
R6579:Polr2m	UTSW	9	71,393,002 (GRCm39)	missense	probably damaging	1.00
R7150:Polr2m	UTSW	9	71,390,815 (GRCm39)	missense	probably benign	0.00
R7150:Polr2m	UTSW	9	71,390,626 (GRCm39)	missense	probably damaging	1.00
R7631:Polr2m	UTSW	9	71,390,757 (GRCm39)	nonsense	probably null
R8203:Polr2m	UTSW	9	71,386,768 (GRCm39)	missense	probably benign	0.07
R8233:Polr2m	UTSW	9	71,390,866 (GRCm39)	missense	probably benign
R9571:Polr2m	UTSW	9	71,386,710 (GRCm39)	missense	possibly damaging	0.93
X0067:Polr2m	UTSW	9	71,386,742 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-12-18