Incidental Mutation 'R6579:Polr2m'
| ID |
523929 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polr2m
|
| Ensembl Gene |
ENSMUSG00000032199 |
| Gene Name |
polymerase (RNA) II (DNA directed) polypeptide M |
| Synonyms |
D9Wsu138e, Grinl1a |
| MMRRC Submission |
044703-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.349)
|
| Stock # |
R6579 (G1)
|
| Quality Score |
107.008 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
71385719-71393217 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 71393002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 26
(E26V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034720
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034720]
[ENSMUST00000163972]
[ENSMUST00000163998]
[ENSMUST00000164962]
[ENSMUST00000165936]
[ENSMUST00000166843]
[ENSMUST00000169804]
|
| AlphaFold |
Q6P6I6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034720
AA Change: E26V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034720
Gene: ENSMUSG00000032199
AA Change: E26V
| 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 |
unknown
Transcript: ENSMUST00000169804
AA Change: E26V
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| Validation Efficiency |
100% (36/36) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,161,507 (GRCm39) |
V80D |
possibly damaging |
Het |
| 6330409D20Rik |
T |
C |
2: 32,630,663 (GRCm39) |
|
probably benign |
Het |
| Adam15 |
C |
T |
3: 89,252,936 (GRCm39) |
V261M |
probably damaging |
Het |
| Adam29 |
G |
T |
8: 56,325,779 (GRCm39) |
T225K |
probably damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,223,011 (GRCm39) |
T654A |
probably damaging |
Het |
| AU021092 |
T |
A |
16: 5,040,020 (GRCm39) |
I35F |
probably damaging |
Het |
| Cdk20 |
G |
T |
13: 64,584,348 (GRCm39) |
Q114H |
probably benign |
Het |
| Col22a1 |
A |
C |
15: 71,753,502 (GRCm39) |
S133A |
probably benign |
Het |
| Cyp3a44 |
A |
T |
5: 145,727,516 (GRCm39) |
F271Y |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,412,120 (GRCm39) |
V1332E |
probably benign |
Het |
| Dhrs7l |
A |
T |
12: 72,668,658 (GRCm39) |
D117E |
probably benign |
Het |
| Dnai7 |
A |
T |
6: 145,124,744 (GRCm39) |
M527K |
probably benign |
Het |
| Dnajc5 |
A |
G |
2: 181,189,209 (GRCm39) |
N62D |
possibly damaging |
Het |
| Gm3045 |
C |
T |
13: 56,578,103 (GRCm39) |
S180L |
probably damaging |
Het |
| Hycc1 |
A |
T |
5: 24,171,381 (GRCm39) |
V347D |
possibly damaging |
Het |
| Igkv14-130 |
T |
A |
6: 67,768,421 (GRCm39) |
Y93* |
probably null |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nell2 |
A |
T |
15: 95,282,957 (GRCm39) |
Y362N |
possibly damaging |
Het |
| Or5an1c |
C |
T |
19: 12,218,726 (GRCm39) |
V100I |
probably benign |
Het |
| Peli1 |
A |
T |
11: 21,097,059 (GRCm39) |
T150S |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,271,047 (GRCm39) |
T3169A |
probably benign |
Het |
| Rhbdf2 |
A |
G |
11: 116,495,289 (GRCm39) |
V238A |
probably benign |
Het |
| Rims1 |
G |
T |
1: 22,496,166 (GRCm39) |
P820H |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,327,106 (GRCm39) |
T1698A |
probably damaging |
Het |
| Scgn |
C |
T |
13: 24,143,717 (GRCm39) |
A216T |
probably damaging |
Het |
| Serpina11 |
T |
A |
12: 103,951,007 (GRCm39) |
D238V |
probably damaging |
Het |
| Setd2 |
A |
T |
9: 110,378,846 (GRCm39) |
E887V |
possibly damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Trak1 |
C |
A |
9: 121,272,704 (GRCm39) |
N197K |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
| Uchl5 |
T |
A |
1: 143,674,130 (GRCm39) |
Y211N |
probably damaging |
Het |
| Usf3 |
T |
A |
16: 44,039,197 (GRCm39) |
S1226T |
possibly damaging |
Het |
| Utrn |
T |
C |
10: 12,623,750 (GRCm39) |
T163A |
probably benign |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
| Zcchc14 |
T |
C |
8: 122,331,206 (GRCm39) |
|
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 |
|
IGL02956:Polr2m
|
APN |
9 |
71,390,911 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGAAATCGAGCAGGCGC -3'
(R):5'- TGCTCTTCCGGGAAAATGG -3'
Sequencing Primer
(F):5'- CATGGAGCCATGCCCGC -3'
(R):5'- TCTTCCGGGAAAATGGCGACTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation