Incidental Mutation 'RF048:Polr1has'
| ID |
605086 |
| 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 # |
RF048 (G1)
|
| Quality Score |
112.467 |
|
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) |
CCACCACCACCAC to CCACCACCACCACCCCCACCCACACCACCACCAC
at 37275951 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akna |
GAGCTGA |
G |
4: 63,296,078 (GRCm39) |
|
probably benign |
Het |
| Celf4 |
G |
T |
18: 25,634,378 (GRCm39) |
P326T |
probably benign |
Het |
| Chga |
GCA |
GCACCA |
12: 102,527,662 (GRCm39) |
|
probably benign |
Het |
| Chga |
GCA |
GCATCA |
12: 102,527,680 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
TTT |
TTTTGTT |
11: 101,071,131 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
AACCCC |
AACCCCCACCCC |
11: 101,080,389 (GRCm39) |
|
probably benign |
Het |
| Dnaaf9 |
CATC |
CATCATC |
2: 130,612,654 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
AGCACAGTTCCTACCTCGTT |
AGCACAGTTCCTACCTCGTTTTGGGGGCGGGGCACAGTTCCTACCTCGTT |
9: 20,821,422 (GRCm39) |
|
probably null |
Het |
| Gar1 |
CGCCGCCG |
C |
3: 129,624,349 (GRCm39) |
|
probably null |
Het |
| Gm15155 |
AA |
AACAACAAA |
X: 155,128,637 (GRCm39) |
|
probably null |
Het |
| Irag2 |
GCACATTG |
GCACATTGAACACATTG |
6: 145,119,510 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
CA |
CAGTA |
X: 70,162,458 (GRCm39) |
|
probably null |
Het |
| Ncoa6 |
CTGTTG |
CTG |
2: 155,263,632 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CCTCAGCTGG |
CCTCAGCTGGAGACTTGGGCTCAGCTGG |
11: 4,891,003 (GRCm39) |
|
probably benign |
Het |
| Nefh |
AGCTGGGGAC |
AGCTGGGGACCTGGCCTCAGCTGGGGAC |
11: 4,891,007 (GRCm39) |
|
probably benign |
Het |
| Nphs2 |
GCCACC |
GCCACCCGAGGGGAGCCCCGAGCTCCAGCCTCCACC |
1: 156,138,541 (GRCm39) |
|
probably benign |
Het |
| Nup155 |
T |
TTTTTTG |
15: 8,148,660 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
AGCAAGCTGAGA |
AGCAAGCTGAGATACACGTTAGCATTGAGGCGCAAGCTGAGA |
2: 119,458,080 (GRCm39) |
|
probably benign |
Het |
| Pdik1l |
TGTTTT |
TGTTTTGTTTTGGTTTT |
4: 134,006,683 (GRCm39) |
|
probably null |
Het |
| Rnf144a |
CTCTCTC |
CTCTCTCTCTCTCTATCTCTC |
12: 26,364,010 (GRCm39) |
|
probably benign |
Het |
| Sbp |
G |
GCTGACAACAAAGATT |
17: 24,164,363 (GRCm39) |
|
probably benign |
Het |
| Strn |
TC |
TCCGTGCTCCCTTACCCCAGTGCGTGCGCCCTTACCCCAGAC |
17: 78,984,716 (GRCm39) |
|
probably null |
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 |
|
|
RF053:Polr1has
|
UTSW |
17 |
37,275,958 (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