Incidental Mutation 'R6593:Dnase2b'
| ID |
523462 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnase2b
|
| Ensembl Gene |
ENSMUSG00000028185 |
| Gene Name |
deoxyribonuclease II beta |
| Synonyms |
Dlad, DnaseIIb |
| MMRRC Submission |
044717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R6593 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
146286740-146321351 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 146292666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 169
(Y169C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029836]
[ENSMUST00000199489]
[ENSMUST00000200633]
|
| AlphaFold |
Q9QY48 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029836
AA Change: Y169C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029836
Gene: ENSMUSG00000028185
AA Change: Y169C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:DNase_II
|
27 |
353 |
1.5e-112 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199489
|
| SMART Domains |
Protein: ENSMUSP00000143418
Gene: ENSMUSG00000028186
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Uricase
|
1 |
121 |
8.3e-35 |
PFAM |
|
Pfam:Uricase
|
128 |
228 |
1.8e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200633
AA Change: Y169C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142872
Gene: ENSMUSG00000028185
AA Change: Y169C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:DNase_II
|
26 |
353 |
4.5e-117 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.2%
- 10x: 96.6%
- 20x: 89.6%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares considerable sequence similarity to, and is structurally related to DNase II. The latter is a well characterized endonuclease that catalyzes DNA hydrolysis in the absence of divalent cations at acidic pH. Unlike DNase II which is ubiquitously expressed, expression of this gene product is restricted to the salivary gland and lungs. The gene has been localized to chromosome 1p22.3 adjacent (and in opposite orientation) to the uricase pseudogene. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: The inability of homozygous mutant mice to degrade DNA in differentiating lens cells leads to cataract formation in the nucleus lentis. Consequently, mutant mice exhibit an impaired response to light. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
C |
A |
5: 8,903,491 (GRCm39) |
N1047K |
probably benign |
Het |
| AI597479 |
C |
A |
1: 43,150,408 (GRCm39) |
Q173K |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 15,012,522 (GRCm39) |
L282P |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 15,012,564 (GRCm39) |
I296T |
possibly damaging |
Het |
| Atg2b |
A |
G |
12: 105,611,107 (GRCm39) |
S1275P |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,344,638 (GRCm39) |
M485T |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,514,338 (GRCm39) |
|
probably null |
Het |
| Clcn6 |
C |
T |
4: 148,095,226 (GRCm39) |
S731N |
probably benign |
Het |
| Clic6 |
A |
G |
16: 92,325,005 (GRCm39) |
I388V |
possibly damaging |
Het |
| Cpsf4l |
G |
T |
11: 113,600,192 (GRCm39) |
|
probably benign |
Het |
| Dlg5 |
G |
A |
14: 24,200,720 (GRCm39) |
H1350Y |
probably benign |
Het |
| Elavl3 |
C |
T |
9: 21,929,843 (GRCm39) |
V354M |
possibly damaging |
Het |
| Farp2 |
A |
C |
1: 93,497,662 (GRCm39) |
I231L |
possibly damaging |
Het |
| Gcc2 |
T |
A |
10: 58,107,329 (GRCm39) |
M755K |
probably damaging |
Het |
| Gpr88 |
T |
C |
3: 116,046,273 (GRCm39) |
T13A |
unknown |
Het |
| Gstm3 |
T |
A |
3: 107,875,511 (GRCm39) |
N40Y |
probably benign |
Het |
| Krtap5-2 |
A |
T |
7: 141,728,697 (GRCm39) |
C328S |
unknown |
Het |
| Lpar1 |
A |
T |
4: 58,486,605 (GRCm39) |
V222E |
probably damaging |
Het |
| Neto2 |
A |
G |
8: 86,396,175 (GRCm39) |
S192P |
probably damaging |
Het |
| Odad1 |
T |
A |
7: 45,596,808 (GRCm39) |
D378E |
probably damaging |
Het |
| Or52n3 |
C |
T |
7: 104,530,640 (GRCm39) |
T242I |
probably damaging |
Het |
| Pcdhgb1 |
G |
T |
18: 37,815,134 (GRCm39) |
D542Y |
probably damaging |
Het |
| Phldb2 |
G |
A |
16: 45,645,790 (GRCm39) |
Q264* |
probably null |
Het |
| Ptgs2 |
G |
A |
1: 149,976,784 (GRCm39) |
D6N |
possibly damaging |
Het |
| Rasef |
G |
T |
4: 73,663,327 (GRCm39) |
H167N |
probably damaging |
Het |
| Rbbp4 |
A |
G |
4: 129,216,168 (GRCm39) |
L193S |
probably damaging |
Het |
| Rigi |
T |
C |
4: 40,226,651 (GRCm39) |
I169V |
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,147,061 (GRCm39) |
F673S |
probably damaging |
Het |
| Slc9b1 |
T |
C |
3: 135,063,219 (GRCm39) |
M1T |
probably null |
Het |
| Stra6 |
A |
G |
9: 58,059,262 (GRCm39) |
T542A |
probably benign |
Het |
| Stt3b |
T |
C |
9: 115,081,579 (GRCm39) |
Y569C |
probably damaging |
Het |
| Traf3ip1 |
A |
G |
1: 91,455,417 (GRCm39) |
K626R |
possibly damaging |
Het |
| Washc2 |
T |
A |
6: 116,236,210 (GRCm39) |
I1227N |
probably damaging |
Het |
| Xpo7 |
G |
A |
14: 70,919,802 (GRCm39) |
A671V |
probably damaging |
Het |
| Zfp799 |
A |
G |
17: 33,038,764 (GRCm39) |
Y501H |
probably damaging |
Het |
|
| Other mutations in Dnase2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00725:Dnase2b
|
APN |
3 |
146,302,133 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL01626:Dnase2b
|
APN |
3 |
146,290,371 (GRCm39) |
splice site |
probably null |
|
|
IGL02582:Dnase2b
|
APN |
3 |
146,294,840 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02970:Dnase2b
|
APN |
3 |
146,288,261 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0006:Dnase2b
|
UTSW |
3 |
146,288,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0006:Dnase2b
|
UTSW |
3 |
146,288,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0233:Dnase2b
|
UTSW |
3 |
146,288,305 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0233:Dnase2b
|
UTSW |
3 |
146,288,305 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0539:Dnase2b
|
UTSW |
3 |
146,294,910 (GRCm39) |
splice site |
probably benign |
|
|
R1544:Dnase2b
|
UTSW |
3 |
146,290,312 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2201:Dnase2b
|
UTSW |
3 |
146,290,443 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3690:Dnase2b
|
UTSW |
3 |
146,299,326 (GRCm39) |
nonsense |
probably null |
|
|
R4921:Dnase2b
|
UTSW |
3 |
146,299,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5318:Dnase2b
|
UTSW |
3 |
146,288,210 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6226:Dnase2b
|
UTSW |
3 |
146,290,318 (GRCm39) |
missense |
probably benign |
|
|
R6781:Dnase2b
|
UTSW |
3 |
146,288,126 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7035:Dnase2b
|
UTSW |
3 |
146,288,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7314:Dnase2b
|
UTSW |
3 |
146,288,151 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8992:Dnase2b
|
UTSW |
3 |
146,292,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9154:Dnase2b
|
UTSW |
3 |
146,299,326 (GRCm39) |
nonsense |
probably null |
|
|
R9590:Dnase2b
|
UTSW |
3 |
146,290,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCATCTACGAAGACTTCCAG -3'
(R):5'- GCTTCGGTATTACAGCTTTGAAC -3'
Sequencing Primer
(F):5'- TTCCAGATGAAGGGGCACACTTG -3'
(R):5'- CTGGCTGATACACTCTGT -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation