Incidental Mutation 'RF053:Polr1has'
| ID |
605191 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polr1has
|
| Ensembl Gene |
ENSMUSG00000036214 |
| Gene Name |
RNA polymerase I subunit H, antisense |
| Synonyms |
Znrd1as, 1700022C21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
RF053 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
37269484-37276517 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (7 aa in frame mutation) |
| DNA Base Change (assembly) |
CACCAC to CACCACCACCACCACCACCTCTACCAC
at 37275958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040177]
[ENSMUST00000173814]
[ENSMUST00000209623]
|
| AlphaFold |
Q8R0E5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040177
|
| SMART Domains |
Protein: ENSMUSP00000048695
Gene: ENSMUSG00000036214
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
115 |
N/A |
INTRINSIC |
|
coiled coil region
|
163 |
195 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
236 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173814
|
| SMART Domains |
Protein: ENSMUSP00000134016
Gene: ENSMUSG00000036214
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
36 |
N/A |
INTRINSIC |
|
coiled coil region
|
84 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
157 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209623
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
TGGCTGCTG |
TGGCTGCTGGGGCTGCTG |
1: 82,891,294 (GRCm39) |
|
probably benign |
Het |
| Abra |
TGGC |
T |
15: 41,729,695 (GRCm39) |
|
probably benign |
Het |
| Blm |
CTCCTCCTCCTC |
CTCCTCCTCCTCATCCTCCTCCTC |
7: 80,162,669 (GRCm39) |
|
probably benign |
Het |
| Bmp5 |
TGAGGAG |
T |
9: 75,683,656 (GRCm39) |
|
probably benign |
Het |
| Cngb1 |
GGCTCTGGCTCTGGCTCTGGCTCTG |
GG |
8: 96,030,276 (GRCm39) |
|
probably null |
Het |
| Cyb5r4 |
GGATGTGACAGACACACTGCCCAG |
GGATGTGACAGACACACTGCCCAGCGATGTGACAGACACACTGCCCAG |
9: 86,922,475 (GRCm39) |
|
probably benign |
Het |
| Ehbp1l1 |
TCACACCACC |
T |
19: 5,766,030 (GRCm39) |
|
probably benign |
Het |
| Kdm3a |
TTTTT |
TTTTTT |
6: 71,609,033 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CAGCCACCACAGC |
CAGCCACCACAGCCAAAGCCACCACAGC |
1: 83,019,999 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
CA |
CAGAA |
X: 70,162,458 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CTCCAGCTCCAGCTCCAGCTCCAGCTCCA |
CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,771 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,414 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GACTTGGCCTCACCT |
GACTTGGCCTCACCTCACCACTTGGCCTCACCT |
11: 4,891,014 (GRCm39) |
|
probably null |
Het |
| Rap1gds1 |
TCATTTATTATGACCATAC |
TC |
3: 138,647,418 (GRCm39) |
|
probably null |
Het |
| Tcof1 |
C |
CAGA |
18: 60,968,819 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
AGC |
AGCCGC |
17: 48,097,039 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
TGCT |
TGCTGCTGCTGCTGCGGCT |
15: 72,673,177 (GRCm39) |
|
probably benign |
Het |
| Usp2 |
C |
CTCATGTGACCTGTTCTTCACTTAA |
9: 44,000,426 (GRCm39) |
|
probably benign |
Het |
| Zfp598 |
CCCACCACCACAACCACCACCACCACCACCAC |
CCCACCACCACCACCACAACCACCACCACCACCACCAC |
17: 24,899,735 (GRCm39) |
|
probably benign |
Het |
| Zfp69 |
GTGCCAGGGGTCTCTCCATCATGGGATCCTGCTGCAGGGATGCCAGGGGTCTCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTCGCTTCATCATGGGATCCTGTTGCAGTGGTGCCAGGGGTCGCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTC |
GTGCCAGGGGTCTCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTCGCTTCATCATGGGATCCTGTTGCAGTGGTGCCAGGGGTCGCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTC |
4: 120,804,544 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Polr1has |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00807:Polr1has
|
APN |
17 |
37,275,813 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0347:Polr1has
|
UTSW |
17 |
37,276,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0789:Polr1has
|
UTSW |
17 |
37,275,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0993:Polr1has
|
UTSW |
17 |
37,275,939 (GRCm39) |
small deletion |
probably benign |
|
|
R2110:Polr1has
|
UTSW |
17 |
37,276,336 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2866:Polr1has
|
UTSW |
17 |
37,276,052 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4224:Polr1has
|
UTSW |
17 |
37,269,617 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4746:Polr1has
|
UTSW |
17 |
37,275,765 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7449:Polr1has
|
UTSW |
17 |
37,275,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9453:Polr1has
|
UTSW |
17 |
37,275,939 (GRCm39) |
small deletion |
probably benign |
|
|
R9651:Polr1has
|
UTSW |
17 |
37,276,353 (GRCm39) |
nonsense |
probably null |
|
|
R9709:Polr1has
|
UTSW |
17 |
37,275,249 (GRCm39) |
missense |
probably benign |
0.23 |
|
RF005:Polr1has
|
UTSW |
17 |
37,275,940 (GRCm39) |
small insertion |
probably benign |
|
|
RF008:Polr1has
|
UTSW |
17 |
37,275,946 (GRCm39) |
small insertion |
probably benign |
|
|
RF010:Polr1has
|
UTSW |
17 |
37,275,955 (GRCm39) |
small insertion |
probably benign |
|
|
RF014:Polr1has
|
UTSW |
17 |
37,275,952 (GRCm39) |
small insertion |
probably benign |
|
|
RF024:Polr1has
|
UTSW |
17 |
37,275,949 (GRCm39) |
small insertion |
probably benign |
|
|
RF025:Polr1has
|
UTSW |
17 |
37,275,940 (GRCm39) |
small insertion |
probably benign |
|
|
RF029:Polr1has
|
UTSW |
17 |
37,275,963 (GRCm39) |
small insertion |
probably benign |
|
|
RF035:Polr1has
|
UTSW |
17 |
37,275,958 (GRCm39) |
small insertion |
probably benign |
|
|
RF046:Polr1has
|
UTSW |
17 |
37,275,949 (GRCm39) |
small insertion |
probably benign |
|
|
RF048:Polr1has
|
UTSW |
17 |
37,275,951 (GRCm39) |
small insertion |
probably benign |
|
|
RF064:Polr1has
|
UTSW |
17 |
37,275,942 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCATACAACAGCAGCAAG -3'
(R):5'- GTGGGATGCTTTCCTCCTCTAG -3'
Sequencing Primer
(F):5'- CTTGATAACTCAGAAATGCCATGAGG -3'
(R):5'- TCCTCTAGCACAATTTTGGGTAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation