Incidental Mutation 'R6951:Dnase2a'
| ID |
541268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnase2a
|
| Ensembl Gene |
ENSMUSG00000003812 |
| Gene Name |
deoxyribonuclease II alpha |
| Synonyms |
|
| MMRRC Submission |
045063-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6951 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
85635384-85638332 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85636254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 130
(N130I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003910]
[ENSMUST00000067060]
[ENSMUST00000109741]
[ENSMUST00000109744]
[ENSMUST00000119820]
[ENSMUST00000134569]
[ENSMUST00000145292]
|
| AlphaFold |
P56542 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003910
AA Change: N151I
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000003910
Gene: ENSMUSG00000003812
AA Change: N151I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:DNase_II
|
21 |
349 |
5.8e-116 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067060
|
| SMART Domains |
Protein: ENSMUSP00000064366
Gene: ENSMUSG00000054191
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EKLF_TAD1
|
40 |
66 |
9e-23 |
PFAM |
|
Pfam:EKLF_TAD2
|
78 |
103 |
4.9e-16 |
PFAM |
|
low complexity region
|
153 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
246 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
293 |
317 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
323 |
347 |
7.49e-5 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
3.34e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109741
|
| SMART Domains |
Protein: ENSMUSP00000105363
Gene: ENSMUSG00000053693
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1908
|
61 |
337 |
1.4e-136 |
PFAM |
|
S_TKc
|
376 |
649 |
4.07e-97 |
SMART |
|
S_TK_X
|
650 |
710 |
6.23e-2 |
SMART |
|
low complexity region
|
820 |
836 |
N/A |
INTRINSIC |
|
low complexity region
|
863 |
878 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
961 |
N/A |
INTRINSIC |
|
PDZ
|
977 |
1057 |
3.49e-14 |
SMART |
|
low complexity region
|
1104 |
1132 |
N/A |
INTRINSIC |
|
low complexity region
|
1149 |
1174 |
N/A |
INTRINSIC |
|
low complexity region
|
1212 |
1224 |
N/A |
INTRINSIC |
|
low complexity region
|
1243 |
1252 |
N/A |
INTRINSIC |
|
low complexity region
|
1479 |
1492 |
N/A |
INTRINSIC |
|
low complexity region
|
1519 |
1535 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109744
AA Change: N130I
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105366
Gene: ENSMUSG00000003812
AA Change: N130I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DNase_II
|
9 |
328 |
4.8e-114 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119820
|
| SMART Domains |
Protein: ENSMUSP00000113547
Gene: ENSMUSG00000053693
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1908
|
61 |
338 |
5.1e-148 |
PFAM |
|
S_TKc
|
376 |
644 |
2.79e-86 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134569
|
| SMART Domains |
Protein: ENSMUSP00000117198
Gene: ENSMUSG00000003812
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:DNase_II
|
20 |
119 |
6.6e-32 |
PFAM |
|
Pfam:DNase_II
|
115 |
182 |
4.3e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145292
AA Change: M125L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000138203
Gene: ENSMUSG00000003812
AA Change: M125L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:DNase_II
|
20 |
97 |
2.4e-21 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.0%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DNase family. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions and mediates the breakdown of DNA during erythropoiesis and apoptosis. Two codominant alleles have been characterized, DNASE2*L (low activity) and DNASE2*H (high activity), that differ at one nucleotide in the promoter region. The DNASE2*H allele is represented in this record. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted mutations of this gene result in perinatal death, anemia, and impaired definitive erythropoiesis in the fetal liver. Homozygotes for one null mutation display diaphragm abnormalities and asphyxiation, as well as a specific defect in the phagocytic phase of apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd34a |
A |
G |
3: 96,505,738 (GRCm39) |
N314S |
possibly damaging |
Het |
| Arhgef3 |
A |
T |
14: 26,865,975 (GRCm39) |
|
probably benign |
Het |
| Bmp1 |
T |
C |
14: 70,746,298 (GRCm39) |
R114G |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,385,989 (GRCm39) |
L2097P |
probably damaging |
Het |
| Cgas |
A |
G |
9: 78,349,840 (GRCm39) |
V174A |
probably damaging |
Het |
| Dapk2 |
C |
G |
9: 66,161,904 (GRCm39) |
R271G |
probably benign |
Het |
| Dpp10 |
C |
T |
1: 123,269,379 (GRCm39) |
V677M |
possibly damaging |
Het |
| Dsp |
G |
A |
13: 38,351,622 (GRCm39) |
C147Y |
possibly damaging |
Het |
| Ecpas |
A |
G |
4: 58,853,114 (GRCm39) |
|
probably null |
Het |
| Esyt2 |
A |
G |
12: 116,287,750 (GRCm39) |
T223A |
probably benign |
Het |
| Fndc5 |
G |
A |
4: 129,032,573 (GRCm39) |
V59I |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,812,293 (GRCm39) |
T2871A |
possibly damaging |
Het |
| H2-Eb1 |
A |
T |
17: 34,528,831 (GRCm39) |
R121* |
probably null |
Het |
| Hydin |
A |
G |
8: 111,124,757 (GRCm39) |
I589V |
probably benign |
Het |
| Kitl |
A |
G |
10: 99,887,714 (GRCm39) |
I48V |
probably damaging |
Het |
| Large1 |
A |
G |
8: 73,843,047 (GRCm39) |
S159P |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,653,180 (GRCm39) |
L2570P |
probably benign |
Het |
| Mag |
G |
A |
7: 30,610,858 (GRCm39) |
T128I |
possibly damaging |
Het |
| Mkrn3 |
G |
T |
7: 62,068,881 (GRCm39) |
D303E |
possibly damaging |
Het |
| Myo9a |
A |
G |
9: 59,802,051 (GRCm39) |
D1951G |
probably damaging |
Het |
| Nup85 |
C |
T |
11: 115,473,781 (GRCm39) |
T565I |
possibly damaging |
Het |
| Or5l13 |
T |
C |
2: 87,780,323 (GRCm39) |
I85V |
possibly damaging |
Het |
| Or8b1d |
A |
G |
9: 38,558,170 (GRCm39) |
S217P |
probably damaging |
Het |
| Or8b43 |
A |
G |
9: 38,360,234 (GRCm39) |
D22G |
probably benign |
Het |
| Or8k31-ps1 |
T |
C |
2: 86,355,993 (GRCm39) |
H176R |
probably damaging |
Het |
| Pdzrn3 |
A |
T |
6: 101,131,153 (GRCm39) |
|
probably null |
Het |
| Picalm |
T |
A |
7: 89,840,583 (GRCm39) |
N434K |
probably damaging |
Het |
| Platr25 |
A |
C |
13: 62,853,562 (GRCm39) |
D77E |
probably benign |
Het |
| Prr22 |
A |
T |
17: 57,079,028 (GRCm39) |
R394* |
probably null |
Het |
| Psg23 |
A |
T |
7: 18,348,636 (GRCm39) |
L57Q |
probably damaging |
Het |
| Rap1gap2 |
G |
A |
11: 74,375,774 (GRCm39) |
S44L |
possibly damaging |
Het |
| Rffl |
A |
G |
11: 82,736,576 (GRCm39) |
|
probably null |
Het |
| Stox2 |
G |
A |
8: 47,656,167 (GRCm39) |
T103I |
probably damaging |
Het |
| Swt1 |
T |
C |
1: 151,273,019 (GRCm39) |
N543S |
possibly damaging |
Het |
| Tep1 |
C |
T |
14: 51,071,370 (GRCm39) |
|
probably null |
Het |
| Tln2 |
A |
G |
9: 67,165,767 (GRCm39) |
Y1023H |
probably damaging |
Het |
| Tssk5 |
C |
A |
15: 76,257,096 (GRCm39) |
R262L |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,710,986 (GRCm39) |
|
probably benign |
Het |
| Ubtfl1 |
A |
T |
9: 18,320,873 (GRCm39) |
I134F |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,687,670 (GRCm39) |
F2351S |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,701,104 (GRCm39) |
D688E |
probably benign |
Het |
|
| Other mutations in Dnase2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0211:Dnase2a
|
UTSW |
8 |
85,635,417 (GRCm39) |
unclassified |
probably benign |
|
|
R0211:Dnase2a
|
UTSW |
8 |
85,635,417 (GRCm39) |
unclassified |
probably benign |
|
|
R0396:Dnase2a
|
UTSW |
8 |
85,636,392 (GRCm39) |
splice site |
probably benign |
|
|
R1845:Dnase2a
|
UTSW |
8 |
85,635,951 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1870:Dnase2a
|
UTSW |
8 |
85,635,392 (GRCm39) |
start gained |
probably benign |
|
|
R1939:Dnase2a
|
UTSW |
8 |
85,637,524 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2113:Dnase2a
|
UTSW |
8 |
85,637,500 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2442:Dnase2a
|
UTSW |
8 |
85,635,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4815:Dnase2a
|
UTSW |
8 |
85,636,506 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4913:Dnase2a
|
UTSW |
8 |
85,635,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4922:Dnase2a
|
UTSW |
8 |
85,635,625 (GRCm39) |
splice site |
probably null |
|
|
R5183:Dnase2a
|
UTSW |
8 |
85,636,207 (GRCm39) |
intron |
probably benign |
|
|
R6239:Dnase2a
|
UTSW |
8 |
85,635,508 (GRCm39) |
splice site |
probably null |
|
|
R7215:Dnase2a
|
UTSW |
8 |
85,636,399 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7789:Dnase2a
|
UTSW |
8 |
85,635,505 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8434:Dnase2a
|
UTSW |
8 |
85,636,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9447:Dnase2a
|
UTSW |
8 |
85,635,786 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTAAGACCCCAGCCATCTGAG -3'
(R):5'- ATCACCGTCTCTAGGTCAGG -3'
Sequencing Primer
(F):5'- ATCTGAGGCCCCGTACCTG -3'
(R):5'- TTCTGAGCGAAGAAGCCTTC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation