Incidental Mutation 'IGL01103:Polr3h'
| ID |
52800 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Polr3h
|
| Ensembl Gene |
ENSMUSG00000022476 |
| Gene Name |
polymerase (RNA) III (DNA directed) polypeptide H |
| Synonyms |
5031409G22Rik, RPC8 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
IGL01103
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
81799231-81813824 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81806697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 41
(N41Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155181
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023113]
[ENSMUST00000230050]
|
| AlphaFold |
Q9D2C6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023113
AA Change: N41Y
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000023113
Gene: ENSMUSG00000022476
AA Change: N41Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SHS2_Rpb7-N
|
8 |
77 |
7.1e-23 |
PFAM |
|
Pfam:RNA_pol_Rbc25
|
79 |
201 |
2.4e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229402
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230050
AA Change: N41Y
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230669
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230842
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Calhm6 |
A |
T |
10: 34,002,361 (GRCm39) |
C241S |
probably benign |
Het |
| Cdh3 |
A |
G |
8: 107,281,937 (GRCm39) |
Y775C |
probably damaging |
Het |
| Clip2 |
A |
G |
5: 134,521,204 (GRCm39) |
S980P |
possibly damaging |
Het |
| Ddx51 |
C |
T |
5: 110,803,729 (GRCm39) |
A375V |
probably benign |
Het |
| Eif4e |
A |
G |
3: 138,253,412 (GRCm39) |
|
probably benign |
Het |
| Epb41l5 |
T |
C |
1: 119,495,577 (GRCm39) |
D588G |
probably benign |
Het |
| Fer1l4 |
C |
T |
2: 155,886,361 (GRCm39) |
|
probably null |
Het |
| Fli1 |
T |
C |
9: 32,335,236 (GRCm39) |
N399D |
probably benign |
Het |
| Gm20422 |
T |
C |
8: 70,195,776 (GRCm39) |
T168A |
possibly damaging |
Het |
| Kcnk12 |
C |
T |
17: 88,054,195 (GRCm39) |
G156R |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,902,283 (GRCm39) |
S309T |
probably damaging |
Het |
| Lcp1 |
T |
A |
14: 75,464,533 (GRCm39) |
|
probably null |
Het |
| Neo1 |
A |
G |
9: 58,788,082 (GRCm39) |
C1324R |
possibly damaging |
Het |
| Nin |
G |
A |
12: 70,103,532 (GRCm39) |
T236I |
probably damaging |
Het |
| Npy6r |
A |
G |
18: 44,408,585 (GRCm39) |
E2G |
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,650,778 (GRCm39) |
V136A |
probably benign |
Het |
| Pcdhb8 |
A |
G |
18: 37,490,253 (GRCm39) |
K644E |
probably damaging |
Het |
| Prrx1 |
T |
C |
1: 163,089,531 (GRCm39) |
T99A |
probably damaging |
Het |
| Prss1l |
T |
A |
6: 41,374,091 (GRCm39) |
V231D |
probably damaging |
Het |
| Rbm18 |
G |
A |
2: 36,024,184 (GRCm39) |
R26* |
probably null |
Het |
| Repin1 |
G |
T |
6: 48,574,887 (GRCm39) |
|
probably benign |
Het |
| Rnase1 |
T |
C |
14: 51,383,079 (GRCm39) |
N92D |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,063,906 (GRCm39) |
C782* |
probably null |
Het |
| Slc27a6 |
T |
A |
18: 58,689,836 (GRCm39) |
S101T |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,532,328 (GRCm39) |
N2862D |
possibly damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tril |
A |
G |
6: 53,796,023 (GRCm39) |
Y400H |
probably damaging |
Het |
| Trim34b |
T |
C |
7: 103,979,106 (GRCm39) |
C118R |
probably damaging |
Het |
| Vwa7 |
T |
C |
17: 35,243,918 (GRCm39) |
V784A |
probably damaging |
Het |
|
| Other mutations in Polr3h |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01886:Polr3h
|
APN |
15 |
81,801,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03409:Polr3h
|
APN |
15 |
81,801,595 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2436:Polr3h
|
UTSW |
15 |
81,801,406 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4642:Polr3h
|
UTSW |
15 |
81,806,667 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5631:Polr3h
|
UTSW |
15 |
81,810,113 (GRCm39) |
start gained |
probably benign |
|
|
R5927:Polr3h
|
UTSW |
15 |
81,801,480 (GRCm39) |
splice site |
probably null |
|
|
R5933:Polr3h
|
UTSW |
15 |
81,800,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6638:Polr3h
|
UTSW |
15 |
81,802,505 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7412:Polr3h
|
UTSW |
15 |
81,800,602 (GRCm39) |
splice site |
probably null |
|
|
R7646:Polr3h
|
UTSW |
15 |
81,801,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7916:Polr3h
|
UTSW |
15 |
81,806,613 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8487:Polr3h
|
UTSW |
15 |
81,800,824 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9100:Polr3h
|
UTSW |
15 |
81,806,717 (GRCm39) |
splice site |
probably benign |
|
|
Y4339:Polr3h
|
UTSW |
15 |
81,806,609 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation