Incidental Mutation 'R8233:Polr2m'
| ID |
637227 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polr2m
|
| Ensembl Gene |
ENSMUSG00000032199 |
| Gene Name |
polymerase (RNA) II (DNA directed) polypeptide M |
| Synonyms |
D9Wsu138e, Grinl1a |
| MMRRC Submission |
067665-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.371)
|
| Stock # |
R8233 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
71385719-71393217 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 71390866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 112
(D112V)
|
| 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 benign
Transcript: ENSMUST00000034720
AA Change: D112V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034720
Gene: ENSMUSG00000032199
AA Change: D112V
| 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
AA Change: D8V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132335
Gene: ENSMUSG00000032199
AA Change: D8V
| 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: E38D
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.8%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
A |
T |
18: 70,602,687 (GRCm39) |
V42E |
probably benign |
Het |
| Abca12 |
T |
C |
1: 71,390,916 (GRCm39) |
E153G |
probably benign |
Het |
| Adamts20 |
A |
C |
15: 94,189,533 (GRCm39) |
I1440S |
probably benign |
Het |
| Aspm |
T |
A |
1: 139,385,042 (GRCm39) |
S229T |
probably benign |
Het |
| Atp2b2 |
A |
T |
6: 113,742,680 (GRCm39) |
|
probably null |
Het |
| Cd101 |
G |
T |
3: 100,900,989 (GRCm39) |
H1032N |
unknown |
Het |
| Col6a2 |
A |
G |
10: 76,444,540 (GRCm39) |
|
probably null |
Het |
| Crot |
A |
T |
5: 9,026,027 (GRCm39) |
I320K |
possibly damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,772,588 (GRCm39) |
D602E |
probably damaging |
Het |
| Degs1 |
A |
G |
1: 182,107,160 (GRCm39) |
V69A |
probably benign |
Het |
| Dgkz |
A |
G |
2: 91,769,994 (GRCm39) |
S557P |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,405,055 (GRCm39) |
L602Q |
|
Het |
| Gli2 |
A |
T |
1: 118,772,167 (GRCm39) |
Y513N |
probably damaging |
Het |
| H2-Q10 |
A |
G |
17: 35,781,983 (GRCm39) |
T202A |
probably benign |
Het |
| Hnrnpa3 |
A |
G |
2: 75,492,860 (GRCm39) |
N195D |
probably benign |
Het |
| Ifna1 |
C |
T |
4: 88,768,628 (GRCm39) |
T102I |
possibly damaging |
Het |
| Igfbp3 |
T |
A |
11: 7,160,152 (GRCm39) |
H167L |
probably benign |
Het |
| Igfn1 |
T |
C |
1: 135,895,782 (GRCm39) |
T1595A |
probably benign |
Het |
| Krt14 |
A |
G |
11: 100,094,178 (GRCm39) |
V472A |
probably damaging |
Het |
| Lrrc74b |
T |
A |
16: 17,376,089 (GRCm39) |
H187L |
probably benign |
Het |
| Magoh |
T |
G |
4: 107,738,132 (GRCm39) |
V44G |
possibly damaging |
Het |
| Mbnl1 |
A |
T |
3: 60,532,551 (GRCm39) |
I274L |
probably benign |
Het |
| Or13a27 |
T |
G |
7: 139,925,411 (GRCm39) |
M164L |
probably benign |
Het |
| Or4c108 |
C |
T |
2: 88,804,082 (GRCm39) |
R51H |
probably benign |
Het |
| Pdcd1 |
A |
G |
1: 93,967,142 (GRCm39) |
V252A |
probably damaging |
Het |
| Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Plcxd3 |
A |
G |
15: 4,546,317 (GRCm39) |
D107G |
possibly damaging |
Het |
| Ptprn |
A |
T |
1: 75,229,796 (GRCm39) |
M701K |
probably damaging |
Het |
| Rxrb |
A |
G |
17: 34,255,879 (GRCm39) |
D421G |
possibly damaging |
Het |
| Slfn4 |
A |
G |
11: 83,078,355 (GRCm39) |
E381G |
probably damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Srgap1 |
A |
G |
10: 121,661,341 (GRCm39) |
I530T |
probably damaging |
Het |
| Stmn4 |
A |
G |
14: 66,595,341 (GRCm39) |
H122R |
probably damaging |
Het |
| Sycp2 |
T |
C |
2: 177,998,427 (GRCm39) |
E1031G |
probably damaging |
Het |
| Tle1 |
T |
C |
4: 72,043,181 (GRCm39) |
T553A |
probably benign |
Het |
| Tnik |
T |
A |
3: 28,609,086 (GRCm39) |
W217R |
unknown |
Het |
| Tyrp1 |
T |
C |
4: 80,769,190 (GRCm39) |
V161A |
unknown |
Het |
| Usp29 |
T |
A |
7: 6,965,406 (GRCm39) |
F416L |
probably benign |
Het |
| Usp45 |
T |
C |
4: 21,781,736 (GRCm39) |
V34A |
probably benign |
Het |
| Vmn1r119 |
A |
G |
7: 20,745,932 (GRCm39) |
V150A |
probably damaging |
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 |
|
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 |
|
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 |
|
| Posted On |
2020-07-13 |
Incidental Mutation