Incidental Mutation 'IGL00807:Polr1has'
| ID |
15048 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.092)
|
| Stock # |
IGL00807
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
37269484-37276517 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 37275813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 132
(A132S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040177]
[ENSMUST00000173814]
[ENSMUST00000209623]
|
| AlphaFold |
Q8R0E5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040177
AA Change: A62S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048695
Gene: ENSMUSG00000036214
AA Change: A62S
| 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 |
noncoding transcript
Transcript: ENSMUST00000119193
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172672
|
| 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: ENSMUST00000185085
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209623
AA Change: A132S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,328,285 (GRCm39) |
T3453S |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,985,886 (GRCm39) |
V2390E |
possibly damaging |
Het |
| Aldh8a1 |
A |
T |
10: 21,271,329 (GRCm39) |
I352F |
probably damaging |
Het |
| Ccnt2 |
T |
C |
1: 127,725,628 (GRCm39) |
|
probably benign |
Het |
| Ccr1l1 |
A |
T |
9: 123,777,506 (GRCm39) |
W314R |
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,969,018 (GRCm39) |
I1218V |
possibly damaging |
Het |
| Dlc1 |
G |
A |
8: 37,040,002 (GRCm39) |
T1386I |
probably benign |
Het |
| Frs2 |
A |
C |
10: 116,910,791 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
T |
C |
11: 56,902,866 (GRCm39) |
Y3H |
probably benign |
Het |
| Iigp1c |
C |
T |
18: 60,378,483 (GRCm39) |
S6F |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,123,961 (GRCm39) |
N609S |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,825,008 (GRCm39) |
M1541K |
possibly damaging |
Het |
| Mmachc |
A |
T |
4: 116,563,118 (GRCm39) |
V79E |
probably damaging |
Het |
| Nfe2l2 |
T |
C |
2: 75,509,757 (GRCm39) |
D21G |
probably damaging |
Het |
| Pde2a |
G |
A |
7: 101,153,619 (GRCm39) |
V436M |
probably damaging |
Het |
| Rhot1 |
C |
T |
11: 80,116,928 (GRCm39) |
H101Y |
probably benign |
Het |
| Sh2d4a |
T |
C |
8: 68,782,018 (GRCm39) |
|
probably null |
Het |
| Taar2 |
A |
G |
10: 23,816,573 (GRCm39) |
M38V |
probably benign |
Het |
| Tek |
A |
T |
4: 94,686,956 (GRCm39) |
N158I |
probably damaging |
Het |
|
| Other mutations in Polr1has |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
RF064:Polr1has
|
UTSW |
17 |
37,275,942 (GRCm39) |
small insertion |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation