Mutagenetix > Incidental Mutation

Incidental Mutation 'R0009:Dnase1'

7968

Institutional Source

Beutler Lab

Gene Symbol

Dnase1

Ensembl Gene

ENSMUSG00000005980

Gene Name

deoxyribonuclease I

Synonyms

Dnl1, DNaseI

MMRRC Submission

038304-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.379) question?

Stock #

R0009 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

3855007-3857888 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3856810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 147 (V147A)

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: V147A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000006136
Gene: ENSMUSG00000005980
AA Change: V147A

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: V147A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113119
Gene: ENSMUSG00000005980
AA Change: V147A

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: V147A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119934
Gene: ENSMUSG00000005980
AA Change: V147A

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: V147A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000135442
Gene: ENSMUSG00000005980
AA Change: V147A

Domain	Start	End	E-Value	Type
DNaseIc	6	200	6.86e-67	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150906

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176642

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139334

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

Meta Mutation Damage Score

0.1448

Coding Region Coverage

1x: 79.7%
3x: 70.1%
10x: 44.5%
20x: 24.1%

Validation Efficiency

93% (78/84)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	G	15: 60,791,482 (GRCm39)		probably benign	Het
Afm	C	A	5: 90,693,243 (GRCm39)		probably benign	Het
Aplnr	T	A	2: 84,967,620 (GRCm39)		probably null	Het
Arih2	T	A	9: 108,488,926 (GRCm39)	H264L	probably damaging	Het
Ccdc116	T	C	16: 16,961,903 (GRCm39)	E15G	probably damaging	Het
Cfap53	A	G	18: 74,432,247 (GRCm39)	H45R	probably benign	Het
Chd3	A	G	11: 69,240,732 (GRCm39)	L1569P	probably damaging	Het
Cntn2	G	A	1: 132,443,918 (GRCm39)	Q457*	probably null	Het
Coro1a	A	T	7: 126,300,585 (GRCm39)		probably benign	Het
Cracr2b	T	A	7: 141,043,672 (GRCm39)	L91Q	probably damaging	Het
Ctdspl	T	C	9: 118,849,114 (GRCm39)		probably null	Het
Glud1	G	A	14: 34,056,225 (GRCm39)	G300S	probably benign	Het
Gm4847	C	T	1: 166,458,055 (GRCm39)	V433I	probably benign	Het
Herc2	T	C	7: 55,857,560 (GRCm39)	S4048P	probably benign	Het
Hp1bp3	T	A	4: 137,948,994 (GRCm39)	I19K	probably benign	Het
Il1a	C	T	2: 129,150,994 (GRCm39)	D10N	probably damaging	Het
Il22ra2	A	T	10: 19,500,206 (GRCm39)	N39I	probably damaging	Het
Magi2	A	T	5: 20,816,053 (GRCm39)	Y747F	probably benign	Het
Mcc	C	T	18: 44,579,000 (GRCm39)	E803K	probably damaging	Het
Rims2	T	A	15: 39,398,362 (GRCm39)	M1087K	probably damaging	Het
Riox2	C	A	16: 59,309,730 (GRCm39)	D361E	probably benign	Het
Slc35e1	A	T	8: 73,238,553 (GRCm39)	N318K	probably damaging	Het
Slc9a2	A	T	1: 40,802,762 (GRCm39)	E604V	probably benign	Het
Tbx19	A	T	1: 164,988,089 (GRCm39)	S15T	possibly damaging	Het
Tm4sf5	C	T	11: 70,401,538 (GRCm39)	A179V	probably damaging	Het
Trappc11	A	T	8: 47,956,355 (GRCm39)	C874S	possibly damaging	Het
Trpm3	T	A	19: 22,891,810 (GRCm39)	Y885N	probably damaging	Het
Unc5a	T	A	13: 55,150,692 (GRCm39)	C505S	probably damaging	Het
Xpo5	T	C	17: 46,515,712 (GRCm39)		probably benign	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
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
R6519:Dnase1	UTSW	16	3,856,453 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2012-11-20