Incidental Mutation 'R8000:Rnaseh2a'
| ID |
616323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnaseh2a
|
| Ensembl Gene |
ENSMUSG00000052926 |
| Gene Name |
ribonuclease H2, large subunit |
| Synonyms |
2400006P09Rik |
| MMRRC Submission |
046040-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R8000 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85683239-85694498 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 85692678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005292]
[ENSMUST00000065049]
[ENSMUST00000109733]
[ENSMUST00000109734]
[ENSMUST00000109736]
[ENSMUST00000109738]
[ENSMUST00000125893]
[ENSMUST00000128972]
[ENSMUST00000130902]
[ENSMUST00000140561]
[ENSMUST00000147812]
[ENSMUST00000164807]
[ENSMUST00000214133]
|
| AlphaFold |
Q9CWY8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005292
|
| SMART Domains |
Protein: ENSMUSP00000005292
Gene: ENSMUSG00000005161
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Redoxin
|
7 |
157 |
3.9e-20 |
PFAM |
|
Pfam:AhpC-TSA
|
8 |
141 |
5.6e-44 |
PFAM |
|
Pfam:1-cysPrx_C
|
161 |
196 |
8.6e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065049
|
| SMART Domains |
Protein: ENSMUSP00000066769
Gene: ENSMUSG00000052926
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_HII
|
31 |
242 |
7.1e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109733
|
| SMART Domains |
Protein: ENSMUSP00000105355
Gene: ENSMUSG00000005161
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Redoxin
|
7 |
159 |
1.3e-21 |
PFAM |
|
Pfam:AhpC-TSA
|
8 |
141 |
1.3e-44 |
PFAM |
|
Pfam:1-cysPrx_C
|
161 |
196 |
8.6e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109734
|
| SMART Domains |
Protein: ENSMUSP00000105356
Gene: ENSMUSG00000005161
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Redoxin
|
7 |
159 |
1.3e-21 |
PFAM |
|
Pfam:AhpC-TSA
|
8 |
141 |
1.3e-44 |
PFAM |
|
Pfam:1-cysPrx_C
|
161 |
196 |
8.6e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109736
|
| SMART Domains |
Protein: ENSMUSP00000105358
Gene: ENSMUSG00000052926
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_HII
|
31 |
242 |
1.3e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109738
|
| SMART Domains |
Protein: ENSMUSP00000105360
Gene: ENSMUSG00000052926
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_HII
|
31 |
242 |
5.5e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125893
|
| SMART Domains |
Protein: ENSMUSP00000122694
Gene: ENSMUSG00000005161
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Redoxin
|
7 |
147 |
1.4e-21 |
PFAM |
|
Pfam:AhpC-TSA
|
8 |
141 |
2.3e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128972
|
| SMART Domains |
Protein: ENSMUSP00000121864
Gene: ENSMUSG00000052926
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:RNase_HII
|
57 |
268 |
1.4e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130902
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140561
|
| SMART Domains |
Protein: ENSMUSP00000118442
Gene: ENSMUSG00000052926
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_HII
|
31 |
54 |
4e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147812
|
| SMART Domains |
Protein: ENSMUSP00000120374
Gene: ENSMUSG00000052926
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_HII
|
31 |
242 |
1.3e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164807
|
| SMART Domains |
Protein: ENSMUSP00000126451
Gene: ENSMUSG00000005161
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Redoxin
|
7 |
159 |
1.3e-21 |
PFAM |
|
Pfam:AhpC-TSA
|
8 |
141 |
1.3e-44 |
PFAM |
|
Pfam:1-cysPrx_C
|
161 |
196 |
8.6e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214133
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009]
|
| Allele List at MGI |
All alleles(33) : Targeted(1) Gene trapped(32)
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
A |
G |
3: 59,924,796 (GRCm39) |
K121R |
possibly damaging |
Het |
| Acaca |
A |
G |
11: 84,283,057 (GRCm39) |
K2208E |
possibly damaging |
Het |
| Actn1 |
A |
G |
12: 80,245,782 (GRCm39) |
F134L |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,763 (GRCm39) |
V335D |
probably damaging |
Het |
| Arhgef10 |
T |
G |
8: 14,980,054 (GRCm39) |
I98S |
probably damaging |
Het |
| Celf4 |
T |
C |
18: 25,637,574 (GRCm39) |
N209S |
probably benign |
Het |
| Col4a4 |
G |
A |
1: 82,519,018 (GRCm39) |
P59L |
unknown |
Het |
| Dmwd |
C |
T |
7: 18,814,660 (GRCm39) |
L437F |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,883,118 (GRCm39) |
L1642I |
probably benign |
Het |
| Fads2b |
A |
G |
2: 85,349,070 (GRCm39) |
V14A |
probably benign |
Het |
| Fap |
A |
G |
2: 62,333,142 (GRCm39) |
|
probably null |
Het |
| Fbh1 |
A |
T |
2: 11,772,100 (GRCm39) |
Y194N |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,910,536 (GRCm39) |
T3322A |
probably damaging |
Het |
| Frey1 |
A |
G |
2: 92,215,872 (GRCm39) |
K69E |
unknown |
Het |
| Gabra4 |
A |
G |
5: 71,781,304 (GRCm39) |
F369S |
probably damaging |
Het |
| Igkv9-124 |
T |
A |
6: 67,919,136 (GRCm39) |
D92V |
probably damaging |
Het |
| Kcna6 |
C |
A |
6: 126,715,948 (GRCm39) |
E314* |
probably null |
Het |
| Kyat1 |
A |
C |
2: 30,082,065 (GRCm39) |
S25A |
probably benign |
Het |
| Lars2 |
G |
A |
9: 123,265,309 (GRCm39) |
G455D |
probably damaging |
Het |
| Mertk |
A |
G |
2: 128,613,418 (GRCm39) |
H478R |
probably benign |
Het |
| Mier1 |
A |
T |
4: 102,988,240 (GRCm39) |
T83S |
probably damaging |
Het |
| Mmp1a |
C |
A |
9: 7,476,215 (GRCm39) |
H437Q |
probably benign |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Neb |
G |
T |
2: 52,178,856 (GRCm39) |
A1300D |
probably damaging |
Het |
| Nell2 |
T |
A |
15: 95,333,155 (GRCm39) |
L167F |
probably damaging |
Het |
| Or10h1 |
G |
C |
17: 33,418,321 (GRCm39) |
A100P |
probably damaging |
Het |
| Or12j2 |
T |
A |
7: 139,916,255 (GRCm39) |
M160K |
possibly damaging |
Het |
| Or4d10c |
T |
C |
19: 12,065,358 (GRCm39) |
D266G |
probably damaging |
Het |
| Pald1 |
T |
C |
10: 61,183,218 (GRCm39) |
T339A |
probably benign |
Het |
| Pex13 |
A |
C |
11: 23,605,915 (GRCm39) |
L105W |
probably damaging |
Het |
| Prxl2a |
A |
C |
14: 40,716,483 (GRCm39) |
*230G |
probably null |
Het |
| Ptprd |
A |
C |
4: 75,984,479 (GRCm39) |
F556V |
possibly damaging |
Het |
| Rgp1 |
T |
A |
4: 43,581,664 (GRCm39) |
C314S |
probably benign |
Het |
| Rpl7 |
A |
T |
1: 16,172,949 (GRCm39) |
M154K |
probably benign |
Het |
| Samd9l |
A |
T |
6: 3,373,034 (GRCm39) |
L1409Q |
probably damaging |
Het |
| Slc35f3 |
A |
G |
8: 127,047,812 (GRCm39) |
T51A |
probably benign |
Het |
| Slc7a10 |
A |
G |
7: 34,899,865 (GRCm39) |
Y76C |
|
Het |
| Slk |
G |
T |
19: 47,597,344 (GRCm39) |
A51S |
|
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Stk38 |
A |
T |
17: 29,211,422 (GRCm39) |
V51E |
probably benign |
Het |
| Tecta |
A |
T |
9: 42,278,480 (GRCm39) |
C1009* |
probably null |
Het |
| Vmn1r228 |
A |
T |
17: 20,997,227 (GRCm39) |
M97K |
possibly damaging |
Het |
| Xpo4 |
T |
C |
14: 57,827,403 (GRCm39) |
D931G |
probably damaging |
Het |
| Zfp503 |
T |
C |
14: 22,036,227 (GRCm39) |
T230A |
possibly damaging |
Het |
|
| Other mutations in Rnaseh2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01318:Rnaseh2a
|
APN |
8 |
85,691,752 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01773:Rnaseh2a
|
APN |
8 |
85,691,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02606:Rnaseh2a
|
APN |
8 |
85,686,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0016:Rnaseh2a
|
UTSW |
8 |
85,686,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1521:Rnaseh2a
|
UTSW |
8 |
85,692,487 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2270:Rnaseh2a
|
UTSW |
8 |
85,692,048 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4226:Rnaseh2a
|
UTSW |
8 |
85,686,702 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4227:Rnaseh2a
|
UTSW |
8 |
85,686,702 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4763:Rnaseh2a
|
UTSW |
8 |
85,692,021 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5344:Rnaseh2a
|
UTSW |
8 |
85,684,735 (GRCm39) |
unclassified |
probably benign |
|
|
R8354:Rnaseh2a
|
UTSW |
8 |
85,691,776 (GRCm39) |
missense |
probably benign |
|
|
R8454:Rnaseh2a
|
UTSW |
8 |
85,691,776 (GRCm39) |
missense |
probably benign |
|
|
R8964:Rnaseh2a
|
UTSW |
8 |
85,686,434 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9710:Rnaseh2a
|
UTSW |
8 |
85,684,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9735:Rnaseh2a
|
UTSW |
8 |
85,686,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF008:Rnaseh2a
|
UTSW |
8 |
85,686,687 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAAAACTGCACCCCTTTC -3'
(R):5'- TACAAACCACGCCCTTGGAG -3'
Sequencing Primer
(F):5'- CTGGAAGCGCACCAAGC -3'
(R):5'- ACCACGCCCTTGGAGATAGTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation