Incidental Mutation 'R2359:Polrmt'
| ID |
247075 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polrmt
|
| Ensembl Gene |
ENSMUSG00000020329 |
| Gene Name |
polymerase (RNA) mitochondrial (DNA directed) |
| Synonyms |
1110018N15Rik |
| MMRRC Submission |
040341-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R2359 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79571957-79582415 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79572396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 1079
(L1079Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020580]
[ENSMUST00000020581]
[ENSMUST00000099513]
[ENSMUST00000159016]
[ENSMUST00000162694]
|
| AlphaFold |
Q8BKF1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020580
AA Change: L1153Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020580
Gene: ENSMUSG00000020329
AA Change: L1153Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
175 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
339 |
N/A |
INTRINSIC |
|
RPOL_N
|
373 |
675 |
1.59e-92 |
SMART |
|
low complexity region
|
703 |
714 |
N/A |
INTRINSIC |
|
Pfam:RNA_pol
|
802 |
1207 |
5.6e-169 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020581
|
| SMART Domains |
Protein: ENSMUSP00000020581
Gene: ENSMUSG00000020331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
128 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_N
|
140 |
183 |
5e-23 |
PFAM |
|
Pfam:Ion_trans
|
184 |
447 |
3.3e-24 |
PFAM |
|
low complexity region
|
448 |
459 |
N/A |
INTRINSIC |
|
Blast:cNMP
|
460 |
492 |
9e-13 |
BLAST |
|
cNMP
|
517 |
630 |
4.79e-22 |
SMART |
|
low complexity region
|
727 |
765 |
N/A |
INTRINSIC |
|
low complexity region
|
778 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
804 |
838 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099513
|
| SMART Domains |
Protein: ENSMUSP00000097113
Gene: ENSMUSG00000020331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
128 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_N
|
139 |
215 |
2.6e-47 |
PFAM |
|
Pfam:Ion_trans
|
219 |
435 |
1.5e-20 |
PFAM |
|
low complexity region
|
448 |
459 |
N/A |
INTRINSIC |
|
Blast:cNMP
|
460 |
492 |
9e-13 |
BLAST |
|
cNMP
|
517 |
630 |
4.79e-22 |
SMART |
|
low complexity region
|
727 |
765 |
N/A |
INTRINSIC |
|
low complexity region
|
778 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
804 |
838 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159016
AA Change: L1079Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124936
Gene: ENSMUSG00000020329
AA Change: L1079Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
175 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
339 |
N/A |
INTRINSIC |
|
RPOL_N
|
373 |
601 |
6.27e-50 |
SMART |
|
low complexity region
|
629 |
640 |
N/A |
INTRINSIC |
|
Pfam:RNA_pol
|
727 |
1133 |
7.5e-157 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159082
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159289
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160595
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161662
AA Change: L338Q
|
| SMART Domains |
Protein: ENSMUSP00000124230
Gene: ENSMUSG00000020329
AA Change: L338Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNA_pol
|
29 |
120 |
6.7e-39 |
PFAM |
|
Pfam:RNA_pol
|
119 |
393 |
2.7e-100 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162679
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162687
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160838
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161098
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162694
|
| SMART Domains |
Protein: ENSMUSP00000124556
Gene: ENSMUSG00000020329
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
175 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
339 |
N/A |
INTRINSIC |
|
RPOL_N
|
373 |
675 |
1.59e-92 |
SMART |
|
low complexity region
|
703 |
714 |
N/A |
INTRINSIC |
|
Pfam:RNA_pol
|
801 |
895 |
6.4e-34 |
PFAM |
|
| Meta Mutation Damage Score |
0.8002 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
95% (41/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation die before organogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
A |
G |
8: 41,133,984 (GRCm39) |
E484G |
possibly damaging |
Het |
| Akr1c20 |
C |
T |
13: 4,573,276 (GRCm39) |
G13D |
probably damaging |
Het |
| Alkbh3 |
T |
C |
2: 93,838,458 (GRCm39) |
T38A |
probably benign |
Het |
| Anxa9 |
A |
C |
3: 95,210,062 (GRCm39) |
L99R |
probably damaging |
Het |
| Arfgef2 |
A |
T |
2: 166,702,539 (GRCm39) |
Y826F |
probably damaging |
Het |
| Arid2 |
G |
T |
15: 96,259,759 (GRCm39) |
L306F |
probably damaging |
Het |
| Ccdc141 |
C |
T |
2: 77,000,746 (GRCm39) |
V29M |
probably damaging |
Het |
| Cd55b |
A |
G |
1: 130,345,858 (GRCm39) |
S187P |
probably damaging |
Het |
| Cep63 |
A |
C |
9: 102,471,763 (GRCm39) |
L526V |
possibly damaging |
Het |
| Chtf8 |
G |
T |
8: 107,612,048 (GRCm39) |
|
probably null |
Het |
| Clca4b |
T |
A |
3: 144,631,003 (GRCm39) |
S286C |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,481,873 (GRCm39) |
V1080A |
probably benign |
Het |
| Csf2rb2 |
C |
T |
15: 78,176,976 (GRCm39) |
V165I |
probably benign |
Het |
| Cyp2c40 |
A |
T |
19: 39,766,398 (GRCm39) |
V399E |
probably damaging |
Het |
| Dnmt3a |
T |
C |
12: 3,951,599 (GRCm39) |
S659P |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,630,106 (GRCm39) |
S967P |
possibly damaging |
Het |
| Efr3b |
G |
A |
12: 4,030,136 (GRCm39) |
|
probably benign |
Het |
| Epha8 |
A |
G |
4: 136,673,343 (GRCm39) |
I147T |
probably damaging |
Het |
| Fbxo48 |
G |
A |
11: 16,903,602 (GRCm39) |
W76* |
probably null |
Het |
| Ggt6 |
A |
T |
11: 72,328,377 (GRCm39) |
L254F |
possibly damaging |
Het |
| Gm4204 |
T |
A |
1: 135,159,927 (GRCm39) |
|
noncoding transcript |
Het |
| Golph3l |
A |
G |
3: 95,499,275 (GRCm39) |
|
probably null |
Het |
| Gtf2h3 |
A |
G |
5: 124,728,939 (GRCm39) |
K166R |
probably damaging |
Het |
| Hsp90aa1 |
A |
G |
12: 110,661,003 (GRCm39) |
|
probably null |
Het |
| Hyi |
A |
G |
4: 118,217,538 (GRCm39) |
R79G |
probably benign |
Het |
| Igbp1b |
G |
A |
6: 138,634,713 (GRCm39) |
P244S |
probably damaging |
Het |
| Ipo8 |
G |
A |
6: 148,717,975 (GRCm39) |
|
probably benign |
Het |
| Larp4b |
C |
A |
13: 9,208,199 (GRCm39) |
T391K |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,256,057 (GRCm39) |
V1133A |
probably benign |
Het |
| Med13 |
C |
T |
11: 86,181,861 (GRCm39) |
|
probably benign |
Het |
| Ncapd2 |
A |
G |
6: 125,156,379 (GRCm39) |
|
probably benign |
Het |
| Neurl1b |
T |
C |
17: 26,660,569 (GRCm39) |
F299L |
probably benign |
Het |
| Nosip |
G |
A |
7: 44,723,450 (GRCm39) |
A39T |
possibly damaging |
Het |
| Nsd1 |
A |
G |
13: 55,361,524 (GRCm39) |
D164G |
possibly damaging |
Het |
| Ntn1 |
G |
A |
11: 68,276,438 (GRCm39) |
T170M |
probably damaging |
Het |
| Prxl2c |
A |
T |
13: 64,460,465 (GRCm39) |
C12S |
probably benign |
Het |
| Rab30 |
A |
G |
7: 92,485,005 (GRCm39) |
D129G |
possibly damaging |
Het |
| Rwdd2b |
C |
T |
16: 87,233,809 (GRCm39) |
S97N |
probably benign |
Het |
| Slitrk3 |
T |
G |
3: 72,956,678 (GRCm39) |
D698A |
possibly damaging |
Het |
| Smarcd2 |
T |
C |
11: 106,157,990 (GRCm39) |
M93V |
probably benign |
Het |
| Tmprss4 |
A |
G |
9: 45,097,130 (GRCm39) |
V45A |
probably benign |
Het |
| Vmn1r22 |
A |
T |
6: 57,877,974 (GRCm39) |
M1K |
probably null |
Het |
| Vps13a |
A |
G |
19: 16,630,043 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Polrmt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00949:Polrmt
|
APN |
10 |
79,573,431 (GRCm39) |
splice site |
probably null |
|
|
IGL01145:Polrmt
|
APN |
10 |
79,576,971 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01454:Polrmt
|
APN |
10 |
79,579,517 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL01511:Polrmt
|
APN |
10 |
79,575,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01750:Polrmt
|
APN |
10 |
79,575,680 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01766:Polrmt
|
APN |
10 |
79,572,402 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01827:Polrmt
|
APN |
10 |
79,573,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02941:Polrmt
|
APN |
10 |
79,573,092 (GRCm39) |
splice site |
probably benign |
|
|
IGL02982:Polrmt
|
APN |
10 |
79,574,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0323:Polrmt
|
UTSW |
10 |
79,577,832 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0379:Polrmt
|
UTSW |
10 |
79,573,445 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0628:Polrmt
|
UTSW |
10 |
79,574,979 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1017:Polrmt
|
UTSW |
10 |
79,579,343 (GRCm39) |
nonsense |
probably null |
|
|
R1846:Polrmt
|
UTSW |
10 |
79,574,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2082:Polrmt
|
UTSW |
10 |
79,579,346 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2149:Polrmt
|
UTSW |
10 |
79,576,109 (GRCm39) |
nonsense |
probably null |
|
|
R4105:Polrmt
|
UTSW |
10 |
79,577,567 (GRCm39) |
missense |
probably benign |
|
|
R4381:Polrmt
|
UTSW |
10 |
79,577,642 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4782:Polrmt
|
UTSW |
10 |
79,575,357 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4902:Polrmt
|
UTSW |
10 |
79,582,385 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4904:Polrmt
|
UTSW |
10 |
79,582,385 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4916:Polrmt
|
UTSW |
10 |
79,582,385 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4938:Polrmt
|
UTSW |
10 |
79,582,385 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4963:Polrmt
|
UTSW |
10 |
79,582,385 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4964:Polrmt
|
UTSW |
10 |
79,582,385 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4970:Polrmt
|
UTSW |
10 |
79,572,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5177:Polrmt
|
UTSW |
10 |
79,573,310 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5484:Polrmt
|
UTSW |
10 |
79,577,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5820:Polrmt
|
UTSW |
10 |
79,574,157 (GRCm39) |
splice site |
probably null |
|
|
R5910:Polrmt
|
UTSW |
10 |
79,579,331 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5928:Polrmt
|
UTSW |
10 |
79,576,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6550:Polrmt
|
UTSW |
10 |
79,575,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6979:Polrmt
|
UTSW |
10 |
79,582,400 (GRCm39) |
splice site |
probably null |
|
|
R7233:Polrmt
|
UTSW |
10 |
79,581,619 (GRCm39) |
splice site |
probably null |
|
|
R7323:Polrmt
|
UTSW |
10 |
79,576,483 (GRCm39) |
missense |
probably benign |
|
|
R7505:Polrmt
|
UTSW |
10 |
79,579,010 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7505:Polrmt
|
UTSW |
10 |
79,573,717 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7777:Polrmt
|
UTSW |
10 |
79,575,022 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7891:Polrmt
|
UTSW |
10 |
79,577,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7962:Polrmt
|
UTSW |
10 |
79,574,623 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7993:Polrmt
|
UTSW |
10 |
79,572,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9145:Polrmt
|
UTSW |
10 |
79,576,415 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9530:Polrmt
|
UTSW |
10 |
79,574,545 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9710:Polrmt
|
UTSW |
10 |
79,576,535 (GRCm39) |
missense |
probably benign |
0.05 |
|
X0026:Polrmt
|
UTSW |
10 |
79,576,574 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGACTGTAGTGTCTCCTGC -3'
(R):5'- GACTGCTTCTGGACACATGC -3'
Sequencing Primer
(F):5'- TGCAGCTTGGTGACCAG -3'
(R):5'- CCACGATGAACGAGGTGTGTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation