Incidental Mutation 'R4224:Polr1has'
| ID |
319982 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polr1has
|
| Ensembl Gene |
ENSMUSG00000036214 |
| Gene Name |
RNA polymerase I subunit H, antisense |
| Synonyms |
Znrd1as, 1700022C21Rik |
| MMRRC Submission |
041044-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R4224 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
37269484-37276517 bp(+) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
T to C
at 37269617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134016
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040177]
[ENSMUST00000113669]
[ENSMUST00000172518]
[ENSMUST00000172823]
[ENSMUST00000173814]
|
| 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: ENSMUST00000113669
|
| SMART Domains |
Protein: ENSMUSP00000109299
Gene: ENSMUSG00000036315
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2C2
|
82 |
121 |
1.68e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172518
|
| SMART Domains |
Protein: ENSMUSP00000133651
Gene: ENSMUSG00000036315
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2C2
|
82 |
121 |
1.68e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172672
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172823
|
| SMART Domains |
Protein: ENSMUSP00000133644
Gene: ENSMUSG00000036315
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2C2
|
59 |
98 |
1.68e-12 |
SMART |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000174466
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
95% (42/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330182O14Rik |
T |
C |
15: 40,005,672 (GRCm39) |
|
probably null |
Het |
| Abl2 |
A |
G |
1: 156,461,417 (GRCm39) |
T440A |
probably damaging |
Het |
| Acat2 |
T |
C |
17: 13,181,772 (GRCm39) |
|
probably benign |
Het |
| Acsbg1 |
C |
T |
9: 54,523,325 (GRCm39) |
R434H |
possibly damaging |
Het |
| Aif1l |
A |
T |
2: 31,852,251 (GRCm39) |
S40C |
probably damaging |
Het |
| Atosa |
T |
A |
9: 74,916,008 (GRCm39) |
N209K |
probably damaging |
Het |
| Atp6v1a |
C |
A |
16: 43,922,174 (GRCm39) |
A355S |
probably damaging |
Het |
| Corin |
T |
C |
5: 72,500,451 (GRCm39) |
E391G |
probably damaging |
Het |
| Dnah11 |
T |
G |
12: 118,094,627 (GRCm39) |
S814R |
probably benign |
Het |
| Fer1l4 |
A |
C |
2: 155,862,309 (GRCm39) |
V1788G |
probably benign |
Het |
| Gm7964 |
T |
G |
7: 83,406,030 (GRCm39) |
N281K |
probably damaging |
Het |
| Grin1 |
T |
C |
2: 25,187,332 (GRCm39) |
|
probably benign |
Het |
| Ica1 |
T |
C |
6: 8,659,960 (GRCm39) |
K112R |
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,326,232 (GRCm39) |
V1334A |
probably damaging |
Het |
| Khdc3 |
C |
G |
9: 73,010,153 (GRCm39) |
H70D |
possibly damaging |
Het |
| Lama3 |
T |
C |
18: 12,583,460 (GRCm39) |
C683R |
probably damaging |
Het |
| Mettl21a |
G |
T |
1: 64,647,115 (GRCm39) |
Y147* |
probably null |
Het |
| Mr1 |
A |
T |
1: 155,006,465 (GRCm39) |
I294N |
possibly damaging |
Het |
| Or52z12 |
A |
G |
7: 103,233,966 (GRCm39) |
T246A |
probably damaging |
Het |
| Or7e170 |
T |
A |
9: 19,794,896 (GRCm39) |
Y235F |
probably benign |
Het |
| Pals1 |
A |
G |
12: 78,876,492 (GRCm39) |
K479E |
probably damaging |
Het |
| Pcdhgb7 |
T |
A |
18: 37,886,856 (GRCm39) |
D675E |
probably benign |
Het |
| Ptbp1 |
T |
C |
10: 79,695,047 (GRCm39) |
I125T |
probably benign |
Het |
| Rnf213 |
C |
T |
11: 119,327,649 (GRCm39) |
R1879* |
probably null |
Het |
| Slc8a1 |
A |
G |
17: 81,956,781 (GRCm39) |
F86L |
probably damaging |
Het |
| Spdya |
G |
A |
17: 71,869,519 (GRCm39) |
V105I |
probably benign |
Het |
| Sspo |
G |
T |
6: 48,428,091 (GRCm39) |
V313L |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,495,472 (GRCm39) |
T116A |
possibly damaging |
Het |
| Tnnt1 |
T |
C |
7: 4,513,006 (GRCm39) |
H92R |
probably damaging |
Het |
| Trim37 |
T |
A |
11: 87,107,289 (GRCm39) |
C907S |
probably damaging |
Het |
| Trim43b |
T |
A |
9: 88,972,692 (GRCm39) |
Q154L |
probably benign |
Het |
| Tssk3 |
T |
C |
4: 129,384,392 (GRCm39) |
D3G |
probably benign |
Het |
| Ubash3a |
T |
C |
17: 31,456,902 (GRCm39) |
Y521H |
probably damaging |
Het |
| Vmn1r73 |
T |
C |
7: 11,490,506 (GRCm39) |
I108T |
probably damaging |
Het |
| Vmn2r14 |
A |
G |
5: 109,364,149 (GRCm39) |
M589T |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,765,952 (GRCm39) |
T20S |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,876,565 (GRCm39) |
T2799A |
probably damaging |
Het |
| Zcchc18 |
A |
T |
X: 135,895,415 (GRCm39) |
N10I |
probably damaging |
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 |
|
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 |
|
|
RF064:Polr1has
|
UTSW |
17 |
37,275,942 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGATAGAGTCCCGATCCC -3'
(R):5'- TTTGCTGTTGGCCACTGAGC -3'
Sequencing Primer
(F):5'- TGATAGAGTCCCGATCCCAGACG -3'
(R):5'- CTGAGCAGCCGCAAAAGGAC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation