Incidental Mutation 'IGL02969:Polr2h'
| ID |
365735 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Polr2h
|
| Ensembl Gene |
ENSMUSG00000021018 |
| Gene Name |
polymerase (RNA) II (DNA directed) polypeptide H |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02969
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
20536552-20541015 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20537807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 68
(Y68C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007207]
[ENSMUST00000021405]
[ENSMUST00000120099]
[ENSMUST00000131522]
[ENSMUST00000161038]
[ENSMUST00000231392]
[ENSMUST00000231656]
[ENSMUST00000232309]
|
| AlphaFold |
Q923G2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007207
|
| SMART Domains |
Protein: ENSMUSP00000007207
Gene: ENSMUSG00000022843
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
111 |
N/A |
INTRINSIC |
|
Pfam:Voltage_CLC
|
151 |
555 |
1.2e-94 |
PFAM |
|
Blast:CBS
|
595 |
644 |
3e-12 |
BLAST |
|
low complexity region
|
666 |
680 |
N/A |
INTRINSIC |
|
CBS
|
803 |
850 |
3.69e0 |
SMART |
|
low complexity region
|
869 |
881 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021405
AA Change: Y75C
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021405
Gene: ENSMUSG00000021018
AA Change: Y75C
| Domain | Start | End | E-Value | Type |
|---|
|
RPOL8c
|
2 |
147 |
5.28e-93 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120099
|
| SMART Domains |
Protein: ENSMUSP00000112759
Gene: ENSMUSG00000022843
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
111 |
N/A |
INTRINSIC |
|
Pfam:Voltage_CLC
|
151 |
538 |
5.6e-77 |
PFAM |
|
Blast:CBS
|
578 |
627 |
4e-12 |
BLAST |
|
low complexity region
|
649 |
663 |
N/A |
INTRINSIC |
|
CBS
|
786 |
833 |
3.69e0 |
SMART |
|
low complexity region
|
852 |
864 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131522
|
| SMART Domains |
Protein: ENSMUSP00000122921
Gene: ENSMUSG00000022843
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
111 |
N/A |
INTRINSIC |
|
Pfam:Voltage_CLC
|
151 |
473 |
4.2e-63 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148131
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153075
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161038
AA Change: Y39C
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231392
AA Change: Y68C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231656
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232309
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The three eukaryotic RNA polymerases are complex multisubunit enzymes that play a central role in the transcription of nuclear genes. This gene encodes an essential and highly conserved subunit of RNA polymerase II that is shared by the other two eukaryotic DNA-directed RNA polymerases, I and III. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
A |
G |
8: 79,946,866 (GRCm39) |
|
probably benign |
Het |
| Acsbg3 |
A |
T |
17: 57,190,751 (GRCm39) |
T440S |
probably damaging |
Het |
| Akap12 |
T |
A |
10: 4,304,864 (GRCm39) |
V558E |
probably damaging |
Het |
| Atg4c |
T |
C |
4: 99,146,624 (GRCm39) |
|
probably benign |
Het |
| Atg7 |
T |
A |
6: 114,701,884 (GRCm39) |
N673K |
possibly damaging |
Het |
| Brpf3 |
A |
G |
17: 29,040,279 (GRCm39) |
D900G |
probably benign |
Het |
| C2cd5 |
T |
C |
6: 143,025,669 (GRCm39) |
Y176C |
probably damaging |
Het |
| Cep70 |
A |
T |
9: 99,180,557 (GRCm39) |
I571F |
possibly damaging |
Het |
| Cir1 |
C |
T |
2: 73,134,120 (GRCm39) |
G150R |
probably null |
Het |
| Cyp46a1 |
T |
C |
12: 108,309,296 (GRCm39) |
V68A |
probably damaging |
Het |
| Dlgap2 |
A |
G |
8: 14,881,579 (GRCm39) |
T883A |
possibly damaging |
Het |
| Dnah2 |
C |
A |
11: 69,412,013 (GRCm39) |
K249N |
possibly damaging |
Het |
| Dnajc11 |
A |
G |
4: 152,062,503 (GRCm39) |
K434R |
probably benign |
Het |
| Eri3 |
A |
G |
4: 117,506,508 (GRCm39) |
Y279C |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
| Ilk |
A |
G |
7: 105,389,547 (GRCm39) |
K85E |
possibly damaging |
Het |
| Insrr |
G |
T |
3: 87,721,498 (GRCm39) |
G1135* |
probably null |
Het |
| Itgax |
T |
A |
7: 127,748,295 (GRCm39) |
M1108K |
probably benign |
Het |
| Mpzl3 |
C |
T |
9: 44,979,514 (GRCm39) |
T155I |
probably benign |
Het |
| Or4f57 |
A |
T |
2: 111,790,912 (GRCm39) |
C169S |
probably damaging |
Het |
| Or6c212 |
A |
T |
10: 129,559,065 (GRCm39) |
M116K |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Pramel47 |
C |
T |
5: 95,489,258 (GRCm39) |
P234S |
probably benign |
Het |
| Rhobtb3 |
A |
G |
13: 76,091,550 (GRCm39) |
S2P |
probably damaging |
Het |
| Slc24a5 |
T |
C |
2: 124,925,147 (GRCm39) |
S263P |
probably damaging |
Het |
| Spz1 |
T |
G |
13: 92,711,851 (GRCm39) |
K208N |
possibly damaging |
Het |
| Tbpl2 |
C |
A |
2: 23,981,105 (GRCm39) |
C231F |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,938,440 (GRCm39) |
I869M |
probably damaging |
Het |
| Tesk1 |
G |
A |
4: 43,447,027 (GRCm39) |
E472K |
possibly damaging |
Het |
| Tesk1 |
C |
A |
4: 43,447,026 (GRCm39) |
C471* |
probably null |
Het |
| Thoc2l |
C |
T |
5: 104,667,209 (GRCm39) |
T577I |
probably benign |
Het |
| Tmem213 |
T |
A |
6: 38,092,601 (GRCm39) |
V111E |
probably damaging |
Het |
| Tmem232 |
A |
T |
17: 65,563,558 (GRCm39) |
Y612N |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,729,707 (GRCm39) |
|
probably benign |
Het |
| Vmn2r113 |
G |
A |
17: 23,177,591 (GRCm39) |
V792I |
probably benign |
Het |
| Wdfy1 |
A |
G |
1: 79,691,588 (GRCm39) |
V273A |
probably benign |
Het |
| Wwp1 |
A |
G |
4: 19,623,200 (GRCm39) |
S762P |
probably damaging |
Het |
|
| Other mutations in Polr2h |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00817:Polr2h
|
APN |
16 |
20,540,655 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02456:Polr2h
|
APN |
16 |
20,539,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8786:Polr2h
|
UTSW |
16 |
20,539,281 (GRCm39) |
nonsense |
probably null |
|
|
R0843:Polr2h
|
UTSW |
16 |
20,537,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1944:Polr2h
|
UTSW |
16 |
20,537,796 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2115:Polr2h
|
UTSW |
16 |
20,537,737 (GRCm39) |
unclassified |
probably benign |
|
|
R4899:Polr2h
|
UTSW |
16 |
20,539,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5070:Polr2h
|
UTSW |
16 |
20,540,716 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5837:Polr2h
|
UTSW |
16 |
20,536,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6023:Polr2h
|
UTSW |
16 |
20,537,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8212:Polr2h
|
UTSW |
16 |
20,536,746 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9183:Polr2h
|
UTSW |
16 |
20,539,285 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9213:Polr2h
|
UTSW |
16 |
20,539,285 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Posted On |
2015-12-18 |
Incidental Mutation