Incidental Mutation 'R2270:Rnaseh2a'
| ID |
242395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnaseh2a
|
| Ensembl Gene |
ENSMUSG00000052926 |
| Gene Name |
ribonuclease H2, large subunit |
| Synonyms |
2400006P09Rik |
| MMRRC Submission |
040270-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R2270 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85683239-85694498 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85692048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 75
(E75G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005292]
[ENSMUST00000065049]
[ENSMUST00000109733]
[ENSMUST00000109734]
[ENSMUST00000109736]
[ENSMUST00000109738]
[ENSMUST00000128972]
[ENSMUST00000147812]
[ENSMUST00000214133]
[ENSMUST00000140561]
[ENSMUST00000125893]
[ENSMUST00000130902]
[ENSMUST00000164807]
|
| 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
AA Change: E75G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000066769
Gene: ENSMUSG00000052926
AA Change: E75G
| 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
AA Change: E75G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000105358
Gene: ENSMUSG00000052926
AA Change: E75G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_HII
|
31 |
242 |
1.3e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109738
AA Change: E75G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000105360
Gene: ENSMUSG00000052926
AA Change: E75G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_HII
|
31 |
242 |
5.5e-53 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122931
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128972
AA Change: E75G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000121864
Gene: ENSMUSG00000052926
AA Change: E75G
| 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: ENSMUST00000147812
AA Change: E75G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000120374
Gene: ENSMUSG00000052926
AA Change: E75G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_HII
|
31 |
242 |
1.3e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137791
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138748
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143402
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214133
|
| 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: 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: ENSMUST00000130902
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.6%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
G |
A |
19: 57,065,863 (GRCm39) |
R54W |
possibly damaging |
Het |
| Adam22 |
T |
C |
5: 8,171,108 (GRCm39) |
E614G |
probably damaging |
Het |
| Ap4e1 |
T |
C |
2: 126,889,083 (GRCm39) |
|
probably null |
Het |
| Arid3c |
T |
A |
4: 41,724,744 (GRCm39) |
I364F |
probably damaging |
Het |
| Atp11b |
A |
G |
3: 35,864,283 (GRCm39) |
|
probably null |
Het |
| Bmal2 |
T |
C |
6: 146,723,612 (GRCm39) |
F314S |
probably damaging |
Het |
| Carnmt1 |
T |
C |
19: 18,680,734 (GRCm39) |
L336P |
probably damaging |
Het |
| Cdh22 |
A |
T |
2: 164,985,767 (GRCm39) |
|
probably null |
Het |
| Cdk5rap2 |
A |
C |
4: 70,184,915 (GRCm39) |
S1178R |
probably benign |
Het |
| Chat |
T |
C |
14: 32,176,538 (GRCm39) |
R79G |
probably damaging |
Het |
| Chek1 |
A |
G |
9: 36,630,982 (GRCm39) |
L144P |
probably damaging |
Het |
| Cracr2a |
T |
A |
6: 127,584,261 (GRCm39) |
F107I |
probably damaging |
Het |
| Crip2 |
A |
C |
12: 113,108,486 (GRCm39) |
K62N |
probably damaging |
Het |
| Ddc |
T |
C |
11: 11,785,764 (GRCm39) |
N308D |
probably damaging |
Het |
| Dnm3 |
A |
T |
1: 162,305,358 (GRCm39) |
L12Q |
probably damaging |
Het |
| Eftud2 |
T |
C |
11: 102,755,607 (GRCm39) |
N200S |
probably damaging |
Het |
| Fgfbp1 |
T |
A |
5: 44,136,672 (GRCm39) |
M207L |
probably benign |
Het |
| Fry |
A |
G |
5: 150,324,389 (GRCm39) |
I1151V |
probably null |
Het |
| Garem2 |
T |
G |
5: 30,321,972 (GRCm39) |
L777R |
probably damaging |
Het |
| Garin5b |
T |
A |
7: 4,761,186 (GRCm39) |
T509S |
probably benign |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gpr143 |
T |
A |
X: 151,573,566 (GRCm39) |
V181E |
probably damaging |
Het |
| Gtf2f1 |
T |
C |
17: 57,310,462 (GRCm39) |
I498V |
probably null |
Het |
| Ipo4 |
A |
G |
14: 55,871,557 (GRCm39) |
L168P |
probably damaging |
Het |
| Ism1 |
T |
A |
2: 139,599,293 (GRCm39) |
I415N |
probably damaging |
Het |
| Lipa |
T |
A |
19: 34,488,290 (GRCm39) |
R119* |
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mre11a |
A |
G |
9: 14,726,470 (GRCm39) |
E411G |
probably benign |
Het |
| Mybpc1 |
C |
A |
10: 88,387,269 (GRCm39) |
V106F |
probably benign |
Het |
| Myo5b |
G |
T |
18: 74,866,996 (GRCm39) |
L1382F |
probably damaging |
Het |
| N4bp3 |
A |
T |
11: 51,535,132 (GRCm39) |
N352K |
probably benign |
Het |
| Ncbp2 |
T |
C |
16: 31,775,769 (GRCm39) |
Y138H |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,115,019 (GRCm39) |
V515A |
probably benign |
Het |
| Ndufv1 |
C |
A |
19: 4,058,347 (GRCm39) |
R359L |
probably benign |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Olfm4 |
C |
A |
14: 80,249,315 (GRCm39) |
T144K |
probably damaging |
Het |
| Or11g25 |
G |
T |
14: 50,723,494 (GRCm39) |
C193F |
probably damaging |
Het |
| Or8b12i |
T |
A |
9: 20,082,705 (GRCm39) |
H54L |
possibly damaging |
Het |
| Pes1 |
C |
A |
11: 3,919,524 (GRCm39) |
L66I |
probably damaging |
Het |
| Phf12 |
G |
T |
11: 77,875,001 (GRCm39) |
A76S |
possibly damaging |
Het |
| Plb1 |
G |
T |
5: 32,450,586 (GRCm39) |
D376Y |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,472,681 (GRCm39) |
|
probably null |
Het |
| Prkg1 |
A |
G |
19: 30,556,031 (GRCm39) |
V610A |
probably benign |
Het |
| Prrc2a |
T |
C |
17: 35,368,512 (GRCm39) |
T2104A |
possibly damaging |
Het |
| Rab3gap2 |
T |
A |
1: 185,015,739 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
T |
C |
10: 58,291,749 (GRCm39) |
V252A |
probably benign |
Het |
| Rcn3 |
A |
G |
7: 44,738,075 (GRCm39) |
S98P |
probably damaging |
Het |
| Rere |
T |
C |
4: 150,561,837 (GRCm39) |
S248P |
unknown |
Het |
| Slc15a1 |
A |
T |
14: 121,717,406 (GRCm39) |
M292K |
probably damaging |
Het |
| Slc1a2 |
T |
G |
2: 102,566,339 (GRCm39) |
L14R |
probably damaging |
Het |
| Slfn2 |
C |
T |
11: 82,960,761 (GRCm39) |
R247C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,778,708 (GRCm39) |
I1218M |
probably damaging |
Het |
| Usp7 |
T |
C |
16: 8,516,333 (GRCm39) |
S649G |
probably benign |
Het |
| Yme1l1 |
T |
C |
2: 23,065,232 (GRCm39) |
I247T |
possibly damaging |
Het |
| Zc3h13 |
T |
C |
14: 75,569,587 (GRCm39) |
M1478T |
probably benign |
Het |
| Zfp444 |
T |
C |
7: 6,192,554 (GRCm39) |
C191R |
probably damaging |
Het |
| Zfp729b |
A |
T |
13: 67,740,352 (GRCm39) |
C648S |
probably damaging |
Het |
| Znhit2 |
A |
G |
19: 6,111,261 (GRCm39) |
E2G |
probably damaging |
Het |
| Zpbp |
A |
T |
11: 11,368,272 (GRCm39) |
M133K |
probably benign |
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 |
|
|
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 |
|
|
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'- TAGTCCACACCATTGCAAAGG -3'
(R):5'- TGGTCTACGCCATCTGTTACTG -3'
Sequencing Primer
(F):5'- CAAAGGCAGGACGCAGCC -3'
(R):5'- CTCGCTTGGCAGATCTGGAG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation