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 |