Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00896:Dnase1'

29126

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnase1

Ensembl Gene

ENSMUSG00000005980

Gene Name

deoxyribonuclease I

Synonyms

Dnl1, DNaseI

Accession Numbers

Essential gene?

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

Stock #

IGL00896

Quality Score

Status

Chromosome

Chromosomal Location

3855007-3857888 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3857076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 28 (S28N)

Ref Sequence

ENSEMBL: ENSMUSP00000135060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006136] [ENSMUST00000006137] [ENSMUST00000120009] [ENSMUST00000137748] [ENSMUST00000175755] [ENSMUST00000177337] [ENSMUST00000157044]

AlphaFold

P49183

Predicted Effect

probably benign
Transcript: ENSMUST00000006136
AA Change: S211N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000006136
Gene: ENSMUSG00000005980
AA Change: S211N

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 benign
Transcript: ENSMUST00000120009
AA Change: S211N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113119
Gene: ENSMUSG00000005980
AA Change: S211N

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 benign
Transcript: ENSMUST00000137748
AA Change: S211N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119934
Gene: ENSMUSG00000005980
AA Change: S211N

Domain	Start	End	E-Value	Type
DNaseIc	6	225	7.51e-146	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137945

Predicted Effect

probably benign
Transcript: ENSMUST00000175755
AA Change: S28N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000135060
Gene: ENSMUSG00000005980
AA Change: S28N

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

silent
Transcript: ENSMUST00000177337

SMART Domains

Protein: ENSMUSP00000135442
Gene: ENSMUSG00000005980

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176642

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150906

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144792

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

Coding Region Coverage

Validation Efficiency

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
Adam6a	A	G	12: 113,509,030 (GRCm39)	T468A	possibly damaging	Het
Ankrd35	A	G	3: 96,591,592 (GRCm39)	E626G	probably damaging	Het
Arhgef4	A	G	1: 34,850,777 (GRCm39)	Y1812C	possibly damaging	Het
Aurkc	T	C	7: 7,005,513 (GRCm39)	Y260H	possibly damaging	Het
Bltp1	A	G	3: 37,093,611 (GRCm39)	T4352A	probably benign	Het
Cpb1	A	G	3: 20,306,193 (GRCm39)	V329A	probably benign	Het
Cyp2d11	G	T	15: 82,275,275 (GRCm39)		probably benign	Het
Drgx	C	T	14: 32,327,171 (GRCm39)		probably benign	Het
Evpl	C	A	11: 116,113,410 (GRCm39)	E1427*	probably null	Het
Gimap6	T	C	6: 48,679,394 (GRCm39)	N214S	probably benign	Het
Htr1f	A	T	16: 64,746,469 (GRCm39)	H274Q	probably benign	Het
Ipo9	A	T	1: 135,327,797 (GRCm39)	V538E	probably damaging	Het
Lmf2	T	C	15: 89,237,539 (GRCm39)	K308E	probably benign	Het
Mog	T	A	17: 37,328,377 (GRCm39)		probably null	Het
Myo19	T	C	11: 84,800,324 (GRCm39)	V903A	probably benign	Het
Myt1l	A	G	12: 29,876,885 (GRCm39)	T179A	unknown	Het
Nckap1	C	T	2: 80,411,297 (GRCm39)	V5M	possibly damaging	Het
Or1e23	T	C	11: 73,407,167 (GRCm39)	N286S	probably damaging	Het
Or51l4	T	C	7: 103,404,213 (GRCm39)	D193G	probably damaging	Het
Or9a2	A	T	6: 41,749,047 (GRCm39)	L62Q	probably damaging	Het
Pcdhb5	T	G	18: 37,455,838 (GRCm39)		probably null	Het
Pcm1	C	A	8: 41,729,160 (GRCm39)	Q711K	possibly damaging	Het
Pde6a	A	G	18: 61,353,864 (GRCm39)	D63G	possibly damaging	Het
Piezo1	T	C	8: 123,224,609 (GRCm39)	M711V	possibly damaging	Het
Rev1	G	A	1: 38,138,021 (GRCm39)	T88I	probably damaging	Het
Sntg1	A	T	1: 8,665,634 (GRCm39)		probably null	Het
Sult2a1	T	A	7: 13,566,565 (GRCm39)	T137S	probably benign	Het
Txndc15	G	A	13: 55,873,488 (GRCm39)	A283T	probably damaging	Het
Zswim8	A	G	14: 20,766,069 (GRCm39)	E785G	probably damaging	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
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
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

2013-04-17