Incidental Mutation 'R4227:Rnaseh2a'
| ID |
320092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnaseh2a
|
| Ensembl Gene |
ENSMUSG00000052926 |
| Gene Name |
ribonuclease H2, large subunit |
| Synonyms |
2400006P09Rik |
| MMRRC Submission |
041047-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R4227 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
85683239-85694498 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 85686702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 149
(T149I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065049]
[ENSMUST00000067472]
[ENSMUST00000109736]
[ENSMUST00000109738]
[ENSMUST00000109740]
[ENSMUST00000121880]
[ENSMUST00000147812]
[ENSMUST00000128972]
[ENSMUST00000152378]
|
| AlphaFold |
Q9CWY8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065049
AA Change: T149I
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000066769
Gene: ENSMUSG00000052926
AA Change: T149I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_HII
|
31 |
242 |
7.1e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067472
|
| SMART Domains |
Protein: ENSMUSP00000070558
Gene: ENSMUSG00000048617
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Folate_rec
|
27 |
203 |
2e-40 |
PFAM |
|
low complexity region
|
224 |
234 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109736
AA Change: T149I
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000105358
Gene: ENSMUSG00000052926
AA Change: T149I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_HII
|
31 |
242 |
1.3e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109738
AA Change: T149I
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000105360
Gene: ENSMUSG00000052926
AA Change: T149I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_HII
|
31 |
242 |
5.5e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109740
|
| SMART Domains |
Protein: ENSMUSP00000105362
Gene: ENSMUSG00000048617
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Folate_rec
|
27 |
203 |
3.5e-42 |
PFAM |
|
low complexity region
|
224 |
234 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121880
|
| SMART Domains |
Protein: ENSMUSP00000113982
Gene: ENSMUSG00000048617
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Folate_rec
|
27 |
203 |
3.5e-42 |
PFAM |
|
low complexity region
|
224 |
234 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122931
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147812
AA Change: T149I
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000120374
Gene: ENSMUSG00000052926
AA Change: T149I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_HII
|
31 |
242 |
1.3e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128972
AA Change: T149I
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000121864
Gene: ENSMUSG00000052926
AA Change: T149I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:RNase_HII
|
57 |
268 |
1.4e-53 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126029
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152378
|
| SMART Domains |
Protein: ENSMUSP00000132841
Gene: ENSMUSG00000048617
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Folate_rec
|
2 |
172 |
2.8e-38 |
PFAM |
|
low complexity region
|
193 |
203 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1283 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (56/58) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,115,120 (GRCm39) |
T609A |
probably damaging |
Het |
| Agbl2 |
T |
G |
2: 90,631,797 (GRCm39) |
L385R |
probably damaging |
Het |
| Arfgef2 |
A |
T |
2: 166,709,244 (GRCm39) |
D1107V |
probably damaging |
Het |
| Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
probably damaging |
Het |
| B9d1 |
C |
G |
11: 61,403,483 (GRCm39) |
R160G |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,926,835 (GRCm39) |
|
probably null |
Het |
| Capn11 |
A |
G |
17: 45,953,392 (GRCm39) |
|
probably null |
Het |
| Ceacam12 |
G |
T |
7: 17,805,678 (GRCm39) |
M288I |
probably benign |
Het |
| Cfhr3 |
T |
A |
1: 139,536,046 (GRCm39) |
|
noncoding transcript |
Het |
| Copa |
A |
G |
1: 171,945,682 (GRCm39) |
|
probably benign |
Het |
| Cypt4 |
A |
G |
9: 24,536,788 (GRCm39) |
M93V |
probably benign |
Het |
| Fat3 |
G |
A |
9: 16,288,989 (GRCm39) |
T178I |
probably damaging |
Het |
| Gm15931 |
A |
G |
7: 4,277,793 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9871 |
A |
G |
6: 101,773,654 (GRCm39) |
|
noncoding transcript |
Het |
| Gpsm1 |
T |
C |
2: 26,229,638 (GRCm39) |
|
probably benign |
Het |
| Grhl1 |
A |
G |
12: 24,661,850 (GRCm39) |
T510A |
probably benign |
Het |
| Kcnn3 |
A |
C |
3: 89,428,482 (GRCm39) |
H236P |
possibly damaging |
Het |
| Kif21b |
T |
A |
1: 136,081,831 (GRCm39) |
|
probably null |
Het |
| Lcn3 |
G |
T |
2: 25,656,123 (GRCm39) |
M59I |
probably benign |
Het |
| Mrps27 |
C |
G |
13: 99,547,848 (GRCm39) |
P253A |
probably damaging |
Het |
| Mug2 |
A |
T |
6: 122,017,691 (GRCm39) |
D476V |
probably benign |
Het |
| Naca |
A |
T |
10: 127,877,530 (GRCm39) |
|
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,349,276 (GRCm39) |
S1351P |
probably damaging |
Het |
| Odf2 |
A |
G |
2: 29,791,296 (GRCm39) |
|
probably benign |
Het |
| Or2a56 |
A |
G |
6: 42,932,648 (GRCm39) |
Y72C |
possibly damaging |
Het |
| Or4g17 |
A |
G |
2: 111,209,410 (GRCm39) |
K22E |
probably benign |
Het |
| Or52ab7 |
A |
T |
7: 102,978,026 (GRCm39) |
H111L |
probably damaging |
Het |
| Or5w18 |
T |
A |
2: 87,633,219 (GRCm39) |
I162N |
probably damaging |
Het |
| P3h2 |
G |
T |
16: 25,924,203 (GRCm39) |
D77E |
probably benign |
Het |
| Pcbp2 |
A |
G |
15: 102,387,066 (GRCm39) |
M87V |
probably benign |
Het |
| Plekhg6 |
A |
G |
6: 125,355,768 (GRCm39) |
L12P |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,874,223 (GRCm39) |
T503A |
probably benign |
Het |
| Pnpla3 |
C |
A |
15: 84,063,391 (GRCm39) |
N256K |
probably benign |
Het |
| Polh |
A |
G |
17: 46,483,520 (GRCm39) |
S582P |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,138,130 (GRCm39) |
Y345H |
possibly damaging |
Het |
| Rasl11b |
T |
A |
5: 74,358,852 (GRCm39) |
I119N |
probably damaging |
Het |
| Serpina10 |
A |
G |
12: 103,594,674 (GRCm39) |
Y182H |
probably damaging |
Het |
| Serpina1d |
A |
G |
12: 103,733,740 (GRCm39) |
V188A |
probably benign |
Het |
| Setd1a |
C |
A |
7: 127,395,819 (GRCm39) |
|
probably benign |
Het |
| Slc17a8 |
T |
C |
10: 89,434,575 (GRCm39) |
N184S |
probably damaging |
Het |
| Spen |
C |
T |
4: 141,249,458 (GRCm39) |
S110N |
unknown |
Het |
| Tas1r1 |
T |
C |
4: 152,112,729 (GRCm39) |
I775V |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,966,351 (GRCm39) |
|
probably null |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmprss6 |
C |
T |
15: 78,330,899 (GRCm39) |
V43M |
probably damaging |
Het |
| Try5 |
A |
G |
6: 41,290,401 (GRCm39) |
Y28H |
possibly damaging |
Het |
| Urad |
A |
T |
5: 147,252,100 (GRCm39) |
F117L |
probably damaging |
Het |
| Vegfc |
A |
G |
8: 54,612,445 (GRCm39) |
Y156C |
probably damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,486,277 (GRCm39) |
V337E |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,445,369 (GRCm39) |
F696L |
probably damaging |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
| Zfp131 |
T |
C |
13: 120,228,282 (GRCm39) |
D455G |
probably 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 |
|
R4763:Rnaseh2a
|
UTSW |
8 |
85,692,021 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5344:Rnaseh2a
|
UTSW |
8 |
85,684,735 (GRCm39) |
unclassified |
probably benign |
|
|
R8000:Rnaseh2a
|
UTSW |
8 |
85,692,678 (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'- GGAATCTACTTGCCCCTACACG -3'
(R):5'- GTGTAAGGCCTGTGAGTCAG -3'
Sequencing Primer
(F):5'- TACACGAGGGAGGTGCC -3'
(R):5'- TAACTCCAGTTCCAGAGGGATTG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation