Incidental Mutation 'R3765:Polr1c'
| ID |
274682 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polr1c
|
| Ensembl Gene |
ENSMUSG00000067148 |
| Gene Name |
polymerase (RNA) I polypeptide C |
| Synonyms |
40kDa, Rpo1-1, RPA40 |
| MMRRC Submission |
040742-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3765 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
46554846-46558971 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 46558850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 14
(V14M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087026]
[ENSMUST00000095263]
[ENSMUST00000123311]
[ENSMUST00000124655]
[ENSMUST00000142706]
[ENSMUST00000173232]
[ENSMUST00000173349]
|
| AlphaFold |
P52432 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087026
AA Change: V14M
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000084252
Gene: ENSMUSG00000067148
AA Change: V14M
| Domain | Start | End | E-Value | Type |
|---|
|
RPOLD
|
60 |
339 |
4.53e-124 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095263
|
| SMART Domains |
Protein: ENSMUSP00000092897
Gene: ENSMUSG00000071074
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
75 |
N/A |
INTRINSIC |
|
transmembrane domain
|
146 |
168 |
N/A |
INTRINSIC |
|
transmembrane domain
|
183 |
205 |
N/A |
INTRINSIC |
|
transmembrane domain
|
212 |
234 |
N/A |
INTRINSIC |
|
transmembrane domain
|
238 |
260 |
N/A |
INTRINSIC |
|
transmembrane domain
|
272 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123311
|
| SMART Domains |
Protein: ENSMUSP00000115951
Gene: ENSMUSG00000071074
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
51 |
73 |
N/A |
INTRINSIC |
|
transmembrane domain
|
88 |
110 |
N/A |
INTRINSIC |
|
transmembrane domain
|
117 |
139 |
N/A |
INTRINSIC |
|
transmembrane domain
|
143 |
165 |
N/A |
INTRINSIC |
|
transmembrane domain
|
177 |
199 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124126
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124655
|
| SMART Domains |
Protein: ENSMUSP00000122026
Gene: ENSMUSG00000067148
| Domain | Start | End | E-Value | Type |
|---|
|
RPOLD
|
1 |
253 |
2.14e-93 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127378
|
| SMART Domains |
Protein: ENSMUSP00000114937
Gene: ENSMUSG00000071074
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Yip1
|
30 |
178 |
4.6e-13 |
PFAM |
|
low complexity region
|
189 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142706
AA Change: V14M
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116998
Gene: ENSMUSG00000067148
AA Change: V14M
| Domain | Start | End | E-Value | Type |
|---|
|
RPOLD
|
60 |
255 |
9.13e-47 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174392
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173232
AA Change: V14M
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000133597
Gene: ENSMUSG00000067148
AA Change: V14M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNA_pol_L
|
61 |
100 |
1.7e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173349
AA Change: V14M
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133861
Gene: ENSMUSG00000067148
AA Change: V14M
| Domain | Start | End | E-Value | Type |
|---|
|
RPOLD
|
42 |
170 |
2.3e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152583
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145371
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149989
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151488
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
C |
7: 75,258,585 (GRCm39) |
V403A |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,268,595 (GRCm39) |
S903P |
probably benign |
Het |
| Arl6ip6 |
T |
A |
2: 53,082,243 (GRCm39) |
W37R |
probably damaging |
Het |
| Bag3 |
C |
T |
7: 128,141,995 (GRCm39) |
T162I |
probably benign |
Het |
| C4b |
G |
A |
17: 34,948,814 (GRCm39) |
P1545S |
probably damaging |
Het |
| Ccdc185 |
T |
A |
1: 182,575,117 (GRCm39) |
H524L |
possibly damaging |
Het |
| Cfap43 |
T |
C |
19: 47,824,014 (GRCm39) |
N119S |
probably benign |
Het |
| Churc1 |
C |
A |
12: 76,820,057 (GRCm39) |
S22* |
probably null |
Het |
| Crbn |
T |
C |
6: 106,771,987 (GRCm39) |
K106E |
possibly damaging |
Het |
| Dag1 |
C |
T |
9: 108,085,398 (GRCm39) |
G581E |
probably damaging |
Het |
| Dpp4 |
T |
A |
2: 62,216,780 (GRCm39) |
T92S |
probably benign |
Het |
| Fam135a |
T |
C |
1: 24,094,958 (GRCm39) |
T137A |
possibly damaging |
Het |
| Fcsk |
A |
G |
8: 111,613,736 (GRCm39) |
I775T |
probably benign |
Het |
| Fermt1 |
T |
C |
2: 132,748,622 (GRCm39) |
D667G |
possibly damaging |
Het |
| Foxl2 |
T |
A |
9: 98,838,039 (GRCm39) |
I109N |
probably damaging |
Het |
| Frk |
A |
G |
10: 34,360,001 (GRCm39) |
M1V |
probably null |
Het |
| Gstm2 |
A |
G |
3: 107,891,346 (GRCm39) |
F124S |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,620,776 (GRCm39) |
S1145G |
possibly damaging |
Het |
| Ints10 |
A |
G |
8: 69,277,771 (GRCm39) |
T682A |
possibly damaging |
Het |
| Jmy |
T |
C |
13: 93,601,219 (GRCm39) |
M396V |
possibly damaging |
Het |
| Ldb3 |
A |
T |
14: 34,300,639 (GRCm39) |
|
probably null |
Het |
| Mre11a |
A |
G |
9: 14,721,143 (GRCm39) |
N354S |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,912,970 (GRCm39) |
V939A |
probably damaging |
Het |
| Nphs1 |
T |
C |
7: 30,170,635 (GRCm39) |
S928P |
probably damaging |
Het |
| Or5b109 |
G |
A |
19: 13,211,795 (GRCm39) |
M60I |
probably damaging |
Het |
| Or7a40 |
A |
G |
16: 16,491,179 (GRCm39) |
V222A |
probably benign |
Het |
| Or8g34 |
T |
A |
9: 39,372,920 (GRCm39) |
Y61* |
probably null |
Het |
| Or9e1 |
T |
C |
11: 58,732,120 (GRCm39) |
F60S |
probably damaging |
Het |
| Pla2g12b |
G |
A |
10: 59,257,323 (GRCm39) |
V169M |
probably damaging |
Het |
| Prg4 |
G |
A |
1: 150,327,122 (GRCm39) |
S898L |
probably damaging |
Het |
| Prmt6 |
C |
A |
3: 110,157,510 (GRCm39) |
E260* |
probably null |
Het |
| Ptx4 |
A |
G |
17: 25,341,842 (GRCm39) |
T106A |
probably benign |
Het |
| Rab3il1 |
A |
G |
19: 10,005,673 (GRCm39) |
T87A |
probably damaging |
Het |
| Sbf2 |
A |
G |
7: 109,974,788 (GRCm39) |
V783A |
probably damaging |
Het |
| Scn2a |
A |
C |
2: 65,513,054 (GRCm39) |
D209A |
possibly damaging |
Het |
| Setd2 |
T |
C |
9: 110,423,314 (GRCm39) |
L345P |
probably damaging |
Het |
| Slc18b1 |
A |
G |
10: 23,674,647 (GRCm39) |
D34G |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,411,244 (GRCm39) |
M934L |
possibly damaging |
Het |
| Slx4 |
A |
G |
16: 3,798,850 (GRCm39) |
V1357A |
probably damaging |
Het |
| Spidr |
T |
C |
16: 15,786,504 (GRCm39) |
E413G |
probably benign |
Het |
| Taar1 |
A |
G |
10: 23,797,205 (GRCm39) |
Y301C |
probably damaging |
Het |
| Tada2b |
A |
T |
5: 36,633,761 (GRCm39) |
D197E |
probably benign |
Het |
| Taf1c |
G |
T |
8: 120,327,224 (GRCm39) |
Y418* |
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,805,796 (GRCm39) |
D394G |
probably damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,579,688 (GRCm39) |
D235G |
probably benign |
Het |
| Tns3 |
G |
A |
11: 8,401,133 (GRCm39) |
A1055V |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,009,266 (GRCm39) |
Y2767H |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,519,394 (GRCm39) |
N172S |
probably damaging |
Het |
| Zfp839 |
T |
C |
12: 110,821,597 (GRCm39) |
V137A |
probably benign |
Het |
|
| Other mutations in Polr1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01412:Polr1c
|
APN |
17 |
46,555,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02035:Polr1c
|
APN |
17 |
46,557,085 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0068:Polr1c
|
UTSW |
17 |
46,555,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0457:Polr1c
|
UTSW |
17 |
46,558,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0828:Polr1c
|
UTSW |
17 |
46,555,990 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0881:Polr1c
|
UTSW |
17 |
46,555,539 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1322:Polr1c
|
UTSW |
17 |
46,555,089 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1518:Polr1c
|
UTSW |
17 |
46,558,821 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4212:Polr1c
|
UTSW |
17 |
46,557,046 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4548:Polr1c
|
UTSW |
17 |
46,558,735 (GRCm39) |
splice site |
probably null |
|
|
R5017:Polr1c
|
UTSW |
17 |
46,558,635 (GRCm39) |
intron |
probably benign |
|
|
R5018:Polr1c
|
UTSW |
17 |
46,558,635 (GRCm39) |
intron |
probably benign |
|
|
R5039:Polr1c
|
UTSW |
17 |
46,558,635 (GRCm39) |
intron |
probably benign |
|
|
R5167:Polr1c
|
UTSW |
17 |
46,558,635 (GRCm39) |
intron |
probably benign |
|
|
R5168:Polr1c
|
UTSW |
17 |
46,558,635 (GRCm39) |
intron |
probably benign |
|
|
R5971:Polr1c
|
UTSW |
17 |
46,558,635 (GRCm39) |
intron |
probably benign |
|
|
R6979:Polr1c
|
UTSW |
17 |
46,557,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7812:Polr1c
|
UTSW |
17 |
46,557,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7869:Polr1c
|
UTSW |
17 |
46,555,817 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8025:Polr1c
|
UTSW |
17 |
46,555,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9186:Polr1c
|
UTSW |
17 |
46,556,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCAAGCGTGTTGTATGGAAAC -3'
(R):5'- CTTGACGTCCGGAAGTGAAG -3'
Sequencing Primer
(F):5'- ACCTTCTCGAAGCGGTTCTGG -3'
(R):5'- TCCGGAAGTGAAGGACGTG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation