Incidental Mutation 'RF029:Polr1has'
| ID |
604287 |
| 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 # |
RF029 (G1)
|
| Quality Score |
132.467 |
|
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) |
CG to CCACCACCACCACCCCCCCCAGG
at 37275963 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: 99.2%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
GGTGGCCAG |
GGTGGCCAGCAAAAACAGAAAGGAAAAAGTGGCCAG |
6: 131,529,858 (GRCm39) |
|
probably benign |
Het |
| Abca17 |
T |
TCCCTC |
17: 24,506,701 (GRCm39) |
|
probably benign |
Het |
| Amot |
GGAGCAGCAA |
G |
X: 144,233,984 (GRCm39) |
|
probably benign |
Het |
| C1s1 |
CCCATGGCTC |
CC |
6: 124,518,310 (GRCm39) |
|
probably null |
Het |
| Cacna1a |
CCA |
CCAACA |
8: 85,365,353 (GRCm39) |
|
probably benign |
Het |
| Ccdc170 |
ACC |
ACCGCC |
10: 4,511,026 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
CAGA |
CAGAGACACTGACCAGGGATGTGATAGA |
9: 86,922,483 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
CCAGGGA |
CCAGGGATGTGACAGACACACTGCACAGGGA |
9: 86,922,495 (GRCm39) |
|
probably benign |
Het |
| Defb22 |
GCGGCA |
GCGGCAGAGCTGGCCTTTGCGGCA |
2: 152,327,753 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
CGGAGCACAGTTCCTACCTCGTT |
CGGAGCACAGTTCCTACCTCGTTTTGGGGGAGGAGCACAGTTCCTACCTCGTT |
9: 20,821,419 (GRCm39) |
|
probably null |
Het |
| Eed |
C |
A |
7: 89,604,240 (GRCm39) |
A411S |
probably benign |
Het |
| Exd2 |
CCACAGC |
CC |
12: 80,522,720 (GRCm39) |
|
probably null |
Het |
| Fam171b |
GCAGC |
GCAGCATCAGC |
2: 83,643,236 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
GCGTGTGCTGGT |
GCGTGTGCTGGTTCGTGTGCTGGT |
5: 110,526,005 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA |
TAGATGTGAAACTCTTAGAGGTAAGA |
2: 82,824,352 (GRCm39) |
|
probably null |
Het |
| Gabre |
GGCTC |
GGCTCCTGCTC |
X: 71,313,665 (GRCm39) |
|
probably benign |
Het |
| Gm47955 |
G |
GTTGTGGCTT |
1: 82,938,248 (GRCm39) |
|
probably benign |
Het |
| Gm572 |
TGGGGGGGGGGGG |
TGGGGG |
4: 148,755,850 (GRCm39) |
|
probably null |
Het |
| Hic1 |
CGGGGGGGGGG |
CGGGGGGG |
11: 75,060,268 (GRCm39) |
|
probably benign |
Het |
| Ifi208 |
AGATG |
AG |
1: 173,505,262 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GTGG |
GTGGGGCTTGAACTGG |
3: 37,179,976 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
TG |
TGAGCACATGG |
6: 145,119,516 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACAGCCACAGCCAC |
CACAGCCACAGCCACAACAGCCACAGCCAC |
1: 83,019,991 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
GCTCCAGCTCCAGCTCCAGCTCCA |
GCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA |
2: 181,339,372 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
CCAGCTCCAGCT |
CCAGCTCCAGCTACAGCTCCAGCT |
2: 181,339,381 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
TGAGGAGCAAGCTGAGA |
TGAGGAGCAAGCTGAGATACACGTTAGCTGGGAGGAGCAAGCTGAGA |
2: 119,458,075 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
CTGAGA |
CTGAGATACACGTTAGCAGTGAGGAGCAAGATGAGA |
2: 119,458,086 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pnma8a |
CAACATC |
CAACATCTCATGATGCACCTGCTTAAACATC |
7: 16,695,369 (GRCm39) |
|
probably null |
Het |
| Rasa2 |
CGC |
CGCAGC |
9: 96,513,520 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
TATTGCGGGACCAGGTATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
2: 155,938,015 (GRCm39) |
|
probably benign |
Het |
| Reep1 |
CGCCA |
CGCCAGCCA |
6: 71,684,950 (GRCm39) |
|
probably null |
Het |
| Tcof1 |
CAG |
CAGAAG |
18: 60,968,807 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
AGC |
AGCGGC |
18: 60,968,817 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
GCTGCTGCT |
GCTGCTGCTGCTGCTTCTGCTGCT |
15: 72,673,172 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
CAGCAACAG |
CAGCAACAGAAGCAACAG |
8: 109,682,724 (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 |
|
|
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 |
|
|
RF064:Polr1has
|
UTSW |
17 |
37,275,942 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCATACAACAGCAGCAAG -3'
(R):5'- GTGGGATGCTTTCCTCCTCTAG -3'
Sequencing Primer
(F):5'- CTTGATAACTCAGAAATGCCATGAGG -3'
(R):5'- TCCTCTAGCACAATTTTGGGTAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation