Incidental Mutation 'RF064:Polr1has'
| ID |
605491 |
| 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 # |
RF064 (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) |
CCACCACCACC to CCACCACCACCCCCACCACCCACACCACCACC
at 37275942 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: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
G |
T |
2: 25,337,409 (GRCm39) |
E2421D |
probably damaging |
Het |
| Acap3 |
GGCTGCTG |
GGCTGCTGCATCCTGCGCTGCTG |
4: 155,989,557 (GRCm39) |
|
probably benign |
Het |
| Blm |
CCTCCTCCTCC |
CCTCCTCCTCCTACTCCTCCTCC |
7: 80,162,671 (GRCm39) |
|
probably null |
Het |
| Ccdc170 |
CAC |
CACAAC |
10: 4,511,025 (GRCm39) |
|
probably benign |
Het |
| Cgref1 |
ATTT |
ATTTTTT |
5: 31,091,118 (GRCm39) |
|
probably benign |
Het |
| Efhd2 |
GCCGCC |
GCCGCCACCGCC |
4: 141,602,066 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
GTGCTGGTGCGT |
GTGCTGGTGCGTCTGCTGGTGCGT |
5: 110,525,997 (GRCm39) |
|
probably benign |
Het |
| Gabre |
C |
CCGGCTA |
X: 71,313,669 (GRCm39) |
|
probably null |
Het |
| Gabre |
CAGGCT |
C |
X: 71,313,777 (GRCm39) |
|
probably null |
Het |
| Gucy2d |
GG |
GGCGGTCCTGG |
7: 98,108,250 (GRCm39) |
|
probably benign |
Het |
| Il2 |
AGGTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 37,179,913 (GRCm39) |
|
probably benign |
Het |
| Klra2 |
AAAGAAATCCA |
AAAGAAATCCAAAGAAATCCA |
6: 131,198,802 (GRCm39) |
|
probably null |
Het |
| Krtap28-10 |
CCACAG |
CCACAGGCACAG |
1: 83,019,852 (GRCm39) |
|
probably benign |
Het |
| Phc1 |
CTTGCTG |
CTTGCTGTTGCTG |
6: 122,300,539 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
GTCCCGCAAGGCCAG |
GTCCCGCAAGGCCAGCGATCCTCCCCACTCCCGCAAGGCCAG |
5: 77,164,262 (GRCm39) |
|
probably benign |
Het |
| Stard8 |
GA |
GAGTA |
X: 98,110,133 (GRCm39) |
|
probably null |
Het |
| Sympk |
CCCCACCCCTAGC |
CC |
7: 18,768,320 (GRCm39) |
|
probably null |
Het |
| Tcof1 |
GAGATCCCCTTGGC |
GAGATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAAAGATCCCCTTGGC |
18: 60,966,643 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
ATCCCCTTGGC |
ATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGAGCTCCCCTTGGC |
18: 60,966,646 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
CCCCGGCCC |
CCCC |
3: 103,187,511 (GRCm39) |
|
probably null |
Het |
| Zfp598 |
CCACCA |
CCACCAACACCA |
17: 24,899,757 (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 |
|
|
RF053:Polr1has
|
UTSW |
17 |
37,275,958 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGTGCATACAACAGCAGC -3'
(R):5'- GTGGGATGCTTTCCTCCTCTAG -3'
Sequencing Primer
(F):5'- CTTGATAACTCAGAAATGCCATGAGG -3'
(R):5'- TCCTCTAGCACAATTTTGGGTAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation