Incidental Mutation 'R0881:Polr3c'
| ID |
80508 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polr3c
|
| Ensembl Gene |
ENSMUSG00000028099 |
| Gene Name |
polymerase (RNA) III (DNA directed) polypeptide C |
| Synonyms |
4933407E01Rik, RPC62, RPC3 |
| MMRRC Submission |
039048-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R0881 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
96618836-96634803 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96631163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 118
(M118T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029740]
[ENSMUST00000029741]
[ENSMUST00000125183]
[ENSMUST00000141377]
[ENSMUST00000154679]
[ENSMUST00000199051]
|
| AlphaFold |
Q9D483 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029740
|
| SMART Domains |
Protein: ENSMUSP00000029740
Gene: ENSMUSG00000028098
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
RING
|
229 |
269 |
1.14e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029741
AA Change: M118T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029741
Gene: ENSMUSG00000028099
AA Change: M118T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HTH_9
|
7 |
68 |
9.4e-26 |
PFAM |
|
Pfam:RNA_pol_Rpc82
|
146 |
344 |
7.6e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083735
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125183
AA Change: M118T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123513
Gene: ENSMUSG00000028099
AA Change: M118T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HTH_9
|
7 |
68 |
4.6e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128918
|
| SMART Domains |
Protein: ENSMUSP00000119236
Gene: ENSMUSG00000028099
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNA_pol_Rpc82
|
20 |
180 |
5.9e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137009
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141377
AA Change: M118T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115300
Gene: ENSMUSG00000028099
AA Change: M118T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HTH_9
|
7 |
68 |
3.3e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154679
AA Change: M118T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122435
Gene: ENSMUSG00000028099
AA Change: M118T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HTH_9
|
7 |
68 |
1.6e-26 |
PFAM |
|
Pfam:RNA_pol_Rpc82
|
146 |
344 |
7.6e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199974
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197075
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199051
|
| SMART Domains |
Protein: ENSMUSP00000143321
Gene: ENSMUSG00000028098
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
Pfam:zf-RING_3
|
18 |
49 |
4.5e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.5737 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 93.0%
|
| Validation Efficiency |
96% (51/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Abcc9 |
T |
A |
6: 142,592,029 (GRCm39) |
I732F |
probably damaging |
Het |
| Adam10 |
T |
C |
9: 70,653,519 (GRCm39) |
S248P |
probably damaging |
Het |
| Adam18 |
A |
T |
8: 25,162,159 (GRCm39) |
|
probably benign |
Het |
| Angel2 |
G |
A |
1: 190,669,661 (GRCm39) |
E114K |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,808,328 (GRCm39) |
T1169A |
probably damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,731,242 (GRCm39) |
M759K |
probably damaging |
Het |
| Atxn2l |
A |
G |
7: 126,095,768 (GRCm39) |
S450P |
probably damaging |
Het |
| B3glct |
T |
A |
5: 149,663,034 (GRCm39) |
V264E |
probably damaging |
Het |
| Bbx |
A |
G |
16: 50,040,963 (GRCm39) |
|
probably benign |
Het |
| Bmp3 |
A |
G |
5: 99,020,461 (GRCm39) |
N295D |
possibly damaging |
Het |
| C9 |
G |
A |
15: 6,488,349 (GRCm39) |
|
probably benign |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Cdan1 |
A |
T |
2: 120,551,466 (GRCm39) |
V1039E |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,758,665 (GRCm39) |
|
probably null |
Het |
| Ext1 |
A |
G |
15: 53,207,879 (GRCm39) |
L294P |
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,816,617 (GRCm39) |
H4117N |
possibly damaging |
Het |
| Itga8 |
C |
T |
2: 12,267,003 (GRCm39) |
|
probably null |
Het |
| Itln1 |
G |
T |
1: 171,360,949 (GRCm39) |
H48N |
probably benign |
Het |
| Kcna5 |
T |
A |
6: 126,511,957 (GRCm39) |
H57L |
probably benign |
Het |
| Klhdc4 |
A |
T |
8: 122,526,226 (GRCm39) |
Y304* |
probably null |
Het |
| Klhl25 |
A |
G |
7: 75,516,027 (GRCm39) |
Y6C |
probably damaging |
Het |
| Lars1 |
C |
T |
18: 42,347,851 (GRCm39) |
V991M |
probably benign |
Het |
| Med20 |
T |
C |
17: 47,922,605 (GRCm39) |
M1T |
probably null |
Het |
| Mslnl |
A |
T |
17: 25,961,939 (GRCm39) |
H138L |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,457,449 (GRCm39) |
I1583V |
probably benign |
Het |
| Nipbl |
A |
C |
15: 8,337,096 (GRCm39) |
V2093G |
probably damaging |
Het |
| Nup98 |
T |
A |
7: 101,809,923 (GRCm39) |
T536S |
probably damaging |
Het |
| Opalin |
T |
C |
19: 41,052,420 (GRCm39) |
|
probably null |
Het |
| Or1j12 |
T |
G |
2: 36,343,452 (GRCm39) |
L285R |
probably damaging |
Het |
| Or51d1 |
T |
A |
7: 102,348,291 (GRCm39) |
V282D |
possibly damaging |
Het |
| Or8g26 |
A |
G |
9: 39,095,984 (GRCm39) |
K170R |
probably benign |
Het |
| Pgm2 |
A |
T |
5: 64,250,351 (GRCm39) |
T9S |
unknown |
Het |
| Piwil2 |
A |
C |
14: 70,646,376 (GRCm39) |
S387A |
probably benign |
Het |
| Polr1c |
T |
C |
17: 46,555,539 (GRCm39) |
T240A |
possibly damaging |
Het |
| Pth1r |
C |
T |
9: 110,560,641 (GRCm39) |
C42Y |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rictor |
A |
T |
15: 6,821,151 (GRCm39) |
M1492L |
probably benign |
Het |
| Rrbp1 |
T |
A |
2: 143,795,173 (GRCm39) |
Y1277F |
probably benign |
Het |
| Scgb3a2 |
T |
G |
18: 43,897,549 (GRCm39) |
|
probably benign |
Het |
| Skint1 |
G |
A |
4: 111,886,054 (GRCm39) |
S327N |
probably benign |
Het |
| Steap4 |
A |
T |
5: 8,030,388 (GRCm39) |
S415C |
probably benign |
Het |
| Tex48 |
A |
G |
4: 63,530,228 (GRCm39) |
|
probably benign |
Het |
| Tox2 |
T |
A |
2: 163,163,365 (GRCm39) |
S502T |
probably benign |
Het |
| Usp47 |
T |
A |
7: 111,690,643 (GRCm39) |
I762K |
possibly damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,334,859 (GRCm39) |
H267R |
probably benign |
Het |
| Wnt2b |
A |
G |
3: 104,860,513 (GRCm39) |
|
probably benign |
Het |
| Xirp1 |
T |
C |
9: 119,847,483 (GRCm39) |
N28D |
possibly damaging |
Het |
| Zeb1 |
T |
C |
18: 5,767,138 (GRCm39) |
S550P |
probably benign |
Het |
|
| Other mutations in Polr3c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01734:Polr3c
|
APN |
3 |
96,620,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01904:Polr3c
|
APN |
3 |
96,623,981 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01964:Polr3c
|
APN |
3 |
96,619,291 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02640:Polr3c
|
APN |
3 |
96,624,002 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02955:Polr3c
|
APN |
3 |
96,621,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03129:Polr3c
|
APN |
3 |
96,626,770 (GRCm39) |
splice site |
probably benign |
|
|
IGL03263:Polr3c
|
APN |
3 |
96,621,567 (GRCm39) |
splice site |
probably benign |
|
|
R0503:Polr3c
|
UTSW |
3 |
96,620,952 (GRCm39) |
splice site |
probably null |
|
|
R0800:Polr3c
|
UTSW |
3 |
96,626,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1763:Polr3c
|
UTSW |
3 |
96,620,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1931:Polr3c
|
UTSW |
3 |
96,626,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1932:Polr3c
|
UTSW |
3 |
96,626,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1994:Polr3c
|
UTSW |
3 |
96,621,689 (GRCm39) |
splice site |
probably null |
|
|
R3771:Polr3c
|
UTSW |
3 |
96,633,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4116:Polr3c
|
UTSW |
3 |
96,622,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4614:Polr3c
|
UTSW |
3 |
96,623,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4732:Polr3c
|
UTSW |
3 |
96,630,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Polr3c
|
UTSW |
3 |
96,630,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5057:Polr3c
|
UTSW |
3 |
96,619,373 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5058:Polr3c
|
UTSW |
3 |
96,630,833 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5756:Polr3c
|
UTSW |
3 |
96,621,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6005:Polr3c
|
UTSW |
3 |
96,626,784 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6009:Polr3c
|
UTSW |
3 |
96,620,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6580:Polr3c
|
UTSW |
3 |
96,634,659 (GRCm39) |
splice site |
probably null |
|
|
R7003:Polr3c
|
UTSW |
3 |
96,630,954 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7475:Polr3c
|
UTSW |
3 |
96,622,501 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8065:Polr3c
|
UTSW |
3 |
96,622,968 (GRCm39) |
missense |
probably null |
0.80 |
|
R8067:Polr3c
|
UTSW |
3 |
96,622,968 (GRCm39) |
missense |
probably null |
0.80 |
|
R8478:Polr3c
|
UTSW |
3 |
96,624,066 (GRCm39) |
splice site |
probably benign |
|
|
R8729:Polr3c
|
UTSW |
3 |
96,634,796 (GRCm39) |
unclassified |
probably benign |
|
|
R8865:Polr3c
|
UTSW |
3 |
96,622,517 (GRCm39) |
unclassified |
probably benign |
|
|
R9532:Polr3c
|
UTSW |
3 |
96,629,866 (GRCm39) |
missense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCGCTGTACAAAGTGAGTATCTGCC -3'
(R):5'- GTGTCCTCATTCACCACAACCTGG -3'
Sequencing Primer
(F):5'- GCATTTGATACCTCAGCGTAG -3'
(R):5'- AACCTGGTCCTCTATCATGTGC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation