Incidental Mutation 'R6519:Dnase1'
| ID |
521044 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnase1
|
| Ensembl Gene |
ENSMUSG00000005980 |
| Gene Name |
deoxyribonuclease I |
| Synonyms |
Dnl1, DNaseI |
| MMRRC Submission |
044646-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.379)
|
| Stock # |
R6519 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
3855007-3857888 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3856453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 132
(S132C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006136]
[ENSMUST00000006137]
[ENSMUST00000120009]
[ENSMUST00000137748]
[ENSMUST00000177337]
[ENSMUST00000157044]
[ENSMUST00000175755]
|
| AlphaFold |
P49183 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006136
AA Change: S132C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006136
Gene: ENSMUSG00000005980
AA Change: S132C
| Domain | Start | End | E-Value | Type |
|---|
|
DNaseIc
|
6 |
282 |
5.04e-220 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006137
|
| SMART Domains |
Protein: ENSMUSP00000006137
Gene: ENSMUSG00000005981
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
110 |
263 |
3.68e-3 |
SMART |
|
Pfam:HSP90
|
290 |
706 |
2.6e-98 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120009
AA Change: S132C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113119
Gene: ENSMUSG00000005980
AA Change: S132C
| Domain | Start | End | E-Value | Type |
|---|
|
DNaseIc
|
6 |
282 |
5.04e-220 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125961
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132466
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137748
AA Change: S132C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119934
Gene: ENSMUSG00000005980
AA Change: S132C
| Domain | Start | End | E-Value | Type |
|---|
|
DNaseIc
|
6 |
225 |
7.51e-146 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137945
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177337
AA Change: S132C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135442
Gene: ENSMUSG00000005980
AA Change: S132C
| Domain | Start | End | E-Value | Type |
|---|
|
DNaseIc
|
6 |
200 |
6.86e-67 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150906
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176642
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139334
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149670
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000157044
|
| SMART Domains |
Protein: ENSMUSP00000120642
Gene: ENSMUSG00000005980
| Domain | Start | End | E-Value | Type |
|---|
|
DNaseIc
|
6 |
70 |
4.5e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175755
|
| SMART Domains |
Protein: ENSMUSP00000135060
Gene: ENSMUSG00000005980
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d2dnja_
|
1 |
52 |
3e-9 |
SMART |
|
Blast:DNaseIc
|
1 |
61 |
2e-31 |
BLAST |
|
PDB:3W3D|B
|
1 |
61 |
5e-27 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144792
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 91.7%
|
| Validation Efficiency |
97% (58/60) |
| 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. This protein is stored in the zymogen granules of the nuclear envelope and functions by cleaving DNA in an endonucleolytic manner. At least six autosomal codominant alleles have been characterized, DNASE1*1 through DNASE1*6, and the sequence of DNASE1*2 represented in this record. Mutations in this gene have been associated with systemic lupus erythematosus (SLE), an autoimmune disease. A recombinant form of this protein is used to treat the one of the symptoms of cystic fibrosis by hydrolyzing the extracellular DNA in sputum and reducing its viscosity. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Some heterozygote and homozygote null mice have autoimmune symptoms similar to systemic lupus erythematosus. These include enlarged lymph nodes, circulating auto-antibodies, kidney inflammation and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
T |
C |
9: 99,495,723 (GRCm39) |
I53T |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,715,462 (GRCm39) |
D909N |
probably benign |
Het |
| Ahdc1 |
T |
C |
4: 132,792,079 (GRCm39) |
Y1107H |
possibly damaging |
Het |
| Aldob |
A |
T |
4: 49,543,835 (GRCm39) |
V49E |
probably damaging |
Het |
| Apol6 |
T |
A |
15: 76,935,476 (GRCm39) |
Y248* |
probably null |
Het |
| Apol7b |
T |
A |
15: 77,307,548 (GRCm39) |
T316S |
probably benign |
Het |
| Atp13a2 |
G |
C |
4: 140,728,165 (GRCm39) |
R503P |
possibly damaging |
Het |
| Brca2 |
A |
C |
5: 150,464,444 (GRCm39) |
T1403P |
probably damaging |
Het |
| Cblc |
T |
C |
7: 19,526,788 (GRCm39) |
Y148C |
probably damaging |
Het |
| Cct7 |
C |
A |
6: 85,439,132 (GRCm39) |
Q149K |
probably benign |
Het |
| Cd53 |
T |
A |
3: 106,669,461 (GRCm39) |
H179L |
probably benign |
Het |
| Cyp2b19 |
A |
G |
7: 26,458,536 (GRCm39) |
T84A |
probably benign |
Het |
| Cyp3a41a |
A |
G |
5: 145,652,308 (GRCm39) |
C64R |
probably damaging |
Het |
| Dclre1c |
T |
C |
2: 3,430,366 (GRCm39) |
Y75H |
probably damaging |
Het |
| Dhx35 |
A |
T |
2: 158,673,630 (GRCm39) |
I354F |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,203,771 (GRCm39) |
N629S |
probably damaging |
Het |
| Dnttip2 |
T |
C |
3: 122,069,120 (GRCm39) |
S112P |
probably benign |
Het |
| Eif4g3 |
C |
A |
4: 137,721,319 (GRCm39) |
P48T |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,057,020 (GRCm39) |
T4239S |
probably benign |
Het |
| Fbn2 |
A |
G |
18: 58,196,647 (GRCm39) |
V1419A |
possibly damaging |
Het |
| Ghitm |
A |
C |
14: 36,847,204 (GRCm39) |
M290R |
probably damaging |
Het |
| Glb1l |
T |
C |
1: 75,177,700 (GRCm39) |
D406G |
probably benign |
Het |
| Glipr1l1 |
C |
A |
10: 111,898,153 (GRCm39) |
A86D |
probably benign |
Het |
| Golm2 |
T |
C |
2: 121,737,218 (GRCm39) |
V141A |
probably benign |
Het |
| Grm7 |
C |
T |
6: 111,184,713 (GRCm39) |
A348V |
probably benign |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Hdac2 |
T |
A |
10: 36,865,252 (GRCm39) |
N155K |
probably damaging |
Het |
| Hus1b |
A |
G |
13: 31,130,930 (GRCm39) |
I243T |
probably benign |
Het |
| Kcnab2 |
T |
C |
4: 152,496,450 (GRCm39) |
T65A |
probably damaging |
Het |
| Lasp1 |
T |
A |
11: 97,706,383 (GRCm39) |
|
probably null |
Het |
| Lrch3 |
G |
A |
16: 32,815,367 (GRCm39) |
|
probably benign |
Het |
| Ltb4r2 |
C |
T |
14: 56,000,438 (GRCm39) |
T353M |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,366,118 (GRCm39) |
M1316T |
probably benign |
Het |
| Msr1 |
G |
A |
8: 40,077,262 (GRCm39) |
T116I |
probably benign |
Het |
| Nlrp5 |
A |
G |
7: 23,117,343 (GRCm39) |
I356V |
probably benign |
Het |
| Npy |
C |
T |
6: 49,800,669 (GRCm39) |
S31F |
possibly damaging |
Het |
| Nsd3 |
C |
T |
8: 26,152,955 (GRCm39) |
P432S |
probably damaging |
Het |
| Nup160 |
A |
C |
2: 90,548,561 (GRCm39) |
R1037S |
probably damaging |
Het |
| Or12j4 |
T |
A |
7: 140,046,458 (GRCm39) |
S115T |
probably benign |
Het |
| Or4b1d |
A |
T |
2: 89,969,156 (GRCm39) |
I109N |
possibly damaging |
Het |
| Or8s5 |
C |
T |
15: 98,237,929 (GRCm39) |
G314R |
probably benign |
Het |
| Pcx |
A |
G |
19: 4,652,239 (GRCm39) |
E108G |
possibly damaging |
Het |
| Pecam1 |
A |
T |
11: 106,590,468 (GRCm39) |
M102K |
probably benign |
Het |
| Pgd |
G |
T |
4: 149,235,343 (GRCm39) |
Y433* |
probably null |
Het |
| Pkd1l3 |
A |
G |
8: 110,355,404 (GRCm39) |
E744G |
probably benign |
Het |
| Rb1 |
A |
G |
14: 73,535,503 (GRCm39) |
I118T |
probably benign |
Het |
| Rdh11 |
T |
A |
12: 79,229,589 (GRCm39) |
H228L |
probably damaging |
Het |
| Rnf44 |
C |
T |
13: 54,829,599 (GRCm39) |
R340Q |
probably damaging |
Het |
| Rtraf |
A |
G |
14: 19,869,998 (GRCm39) |
V88A |
possibly damaging |
Het |
| Sigmar1 |
T |
C |
4: 41,739,380 (GRCm39) |
T185A |
possibly damaging |
Het |
| Thsd1 |
A |
G |
8: 22,749,081 (GRCm39) |
R590G |
probably damaging |
Het |
| Trappc14 |
A |
G |
5: 138,260,110 (GRCm39) |
S344P |
probably damaging |
Het |
| Trbv19 |
T |
C |
6: 41,155,573 (GRCm39) |
|
probably benign |
Het |
| Txnrd3 |
T |
C |
6: 89,631,405 (GRCm39) |
|
probably null |
Het |
| Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 53,000,275 (GRCm39) |
N192D |
possibly damaging |
Het |
| Zfp955b |
T |
A |
17: 33,521,051 (GRCm39) |
S173R |
possibly damaging |
Het |
| Zranb1 |
T |
A |
7: 132,551,857 (GRCm39) |
C195* |
probably null |
Het |
|
| Other mutations in Dnase1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00649:Dnase1
|
APN |
16 |
3,856,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00896:Dnase1
|
APN |
16 |
3,857,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00983:Dnase1
|
APN |
16 |
3,857,417 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02186:Dnase1
|
APN |
16 |
3,856,896 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL03373:Dnase1
|
APN |
16 |
3,857,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Dnase1
|
UTSW |
16 |
3,856,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Dnase1
|
UTSW |
16 |
3,856,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0355:Dnase1
|
UTSW |
16 |
3,857,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0467:Dnase1
|
UTSW |
16 |
3,857,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Dnase1
|
UTSW |
16 |
3,855,771 (GRCm39) |
intron |
probably benign |
|
|
R4966:Dnase1
|
UTSW |
16 |
3,855,771 (GRCm39) |
intron |
probably benign |
|
|
R5014:Dnase1
|
UTSW |
16 |
3,856,880 (GRCm39) |
nonsense |
probably null |
|
|
R5621:Dnase1
|
UTSW |
16 |
3,856,982 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5858:Dnase1
|
UTSW |
16 |
3,857,513 (GRCm39) |
splice site |
probably benign |
|
|
R6256:Dnase1
|
UTSW |
16 |
3,855,485 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7002:Dnase1
|
UTSW |
16 |
3,857,410 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7977:Dnase1
|
UTSW |
16 |
3,855,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7987:Dnase1
|
UTSW |
16 |
3,855,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8050:Dnase1
|
UTSW |
16 |
3,855,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9781:Dnase1
|
UTSW |
16 |
3,857,054 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCCTCTTTTACTTGGGAGG -3'
(R):5'- AATTCAGAGCACTGGGAGTTC -3'
Sequencing Primer
(F):5'- TCCTTATAGAGTAGGGGTAGCAATG -3'
(R):5'- GTAAGCTGTGACTCCATC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation