Mutagenetix > Incidental Mutation

Incidental Mutation 'R4964:Dnase1'

383835

Institutional Source

Beutler Lab

Gene Symbol

Dnase1

Ensembl Gene

ENSMUSG00000005980

Gene Name

deoxyribonuclease I

Synonyms

Dnl1, DNaseI

MMRRC Submission

042561-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.465) question?

Stock #

R4964 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

3855007-3857888 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 3855771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135442 (fasta)

Gene Model

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

AlphaFold

P49183

Predicted Effect

probably benign
Transcript: ENSMUST00000006136

SMART Domains

Protein: ENSMUSP00000006136
Gene: ENSMUSG00000005980

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

SMART Domains

Protein: ENSMUSP00000113119
Gene: ENSMUSG00000005980

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

SMART Domains

Protein: ENSMUSP00000119934
Gene: ENSMUSG00000005980

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176642

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150906

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

Predicted Effect

probably benign
Transcript: ENSMUST00000177337

SMART Domains

Protein: ENSMUSP00000135442
Gene: ENSMUSG00000005980

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

98% (100/102)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,610,757 (GRCm39)		probably benign	Het
9030619P08Rik	T	A	15: 75,303,267 (GRCm39)		noncoding transcript	Het
A430033K04Rik	G	T	5: 138,645,119 (GRCm39)	E335*	probably null	Het
Abcb1b	A	T	5: 8,862,671 (GRCm39)	T118S	probably benign	Het
Abcb1b	T	A	5: 8,911,602 (GRCm39)	I133N	probably damaging	Het
Acox3	A	G	5: 35,747,080 (GRCm39)	N166D	probably damaging	Het
Adam5	T	C	8: 25,276,248 (GRCm39)	Y473C	probably damaging	Het
Ankmy2	A	G	12: 36,236,917 (GRCm39)	K242E	possibly damaging	Het
Apc2	A	C	10: 80,149,841 (GRCm39)	I1603L	probably benign	Het
Arhgef25	T	A	10: 127,021,472 (GRCm39)	I249F	probably damaging	Het
Birc2	T	C	9: 7,860,553 (GRCm39)	H255R	probably benign	Het
Cables1	A	T	18: 12,074,334 (GRCm39)	R486W	possibly damaging	Het
Caskin1	A	T	17: 24,726,135 (GRCm39)	D1414V	probably damaging	Het
Ccdc175	A	G	12: 72,227,619 (GRCm39)	S55P	probably damaging	Het
Ccdc57	A	T	11: 120,751,978 (GRCm39)	S868T	probably benign	Het
Ccny	A	T	18: 9,449,516 (GRCm39)		probably null	Het
Cdc34b	A	T	11: 94,633,087 (GRCm39)	I96F	probably damaging	Het
Ctnnd1	A	G	2: 84,452,417 (GRCm39)	F69L	possibly damaging	Het
Cul9	C	T	17: 46,849,451 (GRCm39)	D565N	probably damaging	Het
Cxcl16	A	G	11: 70,346,519 (GRCm39)	V208A	probably benign	Het
Cyb5rl	A	G	4: 106,926,329 (GRCm39)		probably benign	Het
Ddx18	T	C	1: 121,493,823 (GRCm39)	K54E	probably benign	Het
Ddx60	G	A	8: 62,432,372 (GRCm39)	V885I	probably damaging	Het
Dlg1	C	T	16: 31,573,626 (GRCm39)	T9I	probably benign	Het
Drd4	T	C	7: 140,873,690 (GRCm39)	M114T	probably damaging	Het
Egfr	A	T	11: 16,858,949 (GRCm39)	D976V	probably damaging	Het
Eif2s1	T	A	12: 78,926,785 (GRCm39)	N178K	probably benign	Het
Exoc3l4	A	G	12: 111,395,155 (GRCm39)	H591R	probably benign	Het
Galntl6	T	C	8: 59,152,945 (GRCm39)		probably benign	Het
Glipr1l2	T	A	10: 111,942,904 (GRCm39)	I253K	possibly damaging	Het
Gnat1	A	T	9: 107,554,433 (GRCm39)	M115K	probably benign	Het
Gtsf2	T	C	15: 103,352,755 (GRCm39)	E88G	possibly damaging	Het
Hormad1	T	A	3: 95,492,531 (GRCm39)		probably null	Het
Hydin	A	T	8: 111,217,305 (GRCm39)	I1398F	possibly damaging	Het
Ifnar1	T	C	16: 91,301,974 (GRCm39)	V483A	probably benign	Het
Ints11	T	C	4: 155,971,385 (GRCm39)	F278L	probably damaging	Het
Ints6	A	G	14: 62,939,911 (GRCm39)	L593P	probably damaging	Het
Krt7	C	T	15: 101,311,853 (GRCm39)	R104C	probably damaging	Het
Map4k1	A	T	7: 28,682,427 (GRCm39)	H16L	probably benign	Het
Mef2d	T	A	3: 88,075,404 (GRCm39)	I422N	probably damaging	Het
Mipep	G	T	14: 61,022,231 (GRCm39)	R32L	probably damaging	Het
Mon1a	A	G	9: 107,779,850 (GRCm39)	E473G	probably damaging	Het
Mterf2	T	A	10: 84,955,979 (GRCm39)	Q215L	probably damaging	Het
Mybpc1	T	A	10: 88,391,525 (GRCm39)	Y324F	probably benign	Het
Myh11	T	C	16: 14,023,818 (GRCm39)	E1512G	probably damaging	Het
Myo1g	A	T	11: 6,465,976 (GRCm39)	F370I	probably damaging	Het
Myo5c	T	A	9: 75,204,791 (GRCm39)	M1548K	possibly damaging	Het
Myof	T	A	19: 37,924,300 (GRCm39)	I1306F	probably damaging	Het
Nle1	A	G	11: 82,799,018 (GRCm39)	F21S	probably damaging	Het
Noc2l	C	G	4: 156,330,368 (GRCm39)	D513E	probably damaging	Het
Or1e17	A	T	11: 73,832,028 (GRCm39)	I319F	probably benign	Het
Or2z2	A	G	11: 58,346,733 (GRCm39)	V14A	probably benign	Het
Orc1	T	C	4: 108,471,670 (GRCm39)	*841R	probably null	Het
Patz1	A	G	11: 3,257,720 (GRCm39)	D573G	probably damaging	Het
Pcdhga3	A	G	18: 37,809,154 (GRCm39)	T536A	probably benign	Het
Pde6h	C	T	6: 136,938,201 (GRCm39)	T58I	possibly damaging	Het
Pip5k1a	T	C	3: 94,978,094 (GRCm39)	I275V	probably benign	Het
Pkd1	T	C	17: 24,805,042 (GRCm39)		probably null	Het
Polr1e	G	A	4: 45,029,429 (GRCm39)	A297T	probably damaging	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Rbm34	T	C	8: 127,678,087 (GRCm39)	D269G	possibly damaging	Het
Rnf122	T	A	8: 31,602,177 (GRCm39)	M1K	probably null	Het
Rnf32	G	A	5: 29,403,576 (GRCm39)	R7H	probably benign	Het
Ryr2	T	C	13: 11,729,497 (GRCm39)	E2375G	possibly damaging	Het
Ryr2	T	C	13: 11,848,878 (GRCm39)	T361A	probably benign	Het
Serpina3m	T	C	12: 104,355,360 (GRCm39)	I9T	probably benign	Het
Serpinb9	T	A	13: 33,192,847 (GRCm39)	W135R	probably damaging	Het
Sf3b1	T	C	1: 55,038,871 (GRCm39)	N804S	probably benign	Het
Shroom1	A	G	11: 53,355,999 (GRCm39)	T350A	probably benign	Het
Slc24a5	G	A	2: 124,910,188 (GRCm39)	V30I	probably benign	Het
Slc38a8	A	T	8: 120,209,423 (GRCm39)		probably null	Het
Smarcd1	A	G	15: 99,605,862 (GRCm39)	S378G	possibly damaging	Het
Stx1b	T	C	7: 127,407,093 (GRCm39)	I55V	probably damaging	Het
Sult2a8	A	G	7: 14,159,457 (GRCm39)	V54A	probably damaging	Het
Tacc2	T	C	7: 130,330,507 (GRCm39)	S264P	probably damaging	Het
Tbc1d4	A	T	14: 101,695,610 (GRCm39)	Y943N	probably damaging	Het
Tlr5	T	C	1: 182,801,038 (GRCm39)	I114T	probably benign	Het
Tmco6	T	C	18: 36,868,555 (GRCm39)		probably null	Het
Treh	T	C	9: 44,593,945 (GRCm39)	L144P	probably damaging	Het
Trmt2a	T	A	16: 18,067,418 (GRCm39)	C30*	probably null	Het
Ttbk2	A	T	2: 120,603,758 (GRCm39)	F258L	possibly damaging	Het
Ttn	T	C	2: 76,785,380 (GRCm39)	D665G	probably damaging	Het
Unc93b1	T	C	19: 3,992,023 (GRCm39)		probably null	Het
Uroc1	T	C	6: 90,322,376 (GRCm39)	L300P	probably damaging	Het
Vps35l	T	C	7: 118,379,491 (GRCm39)	I426T	possibly damaging	Het
Xbp1	A	G	11: 5,471,125 (GRCm39)	E44G	probably damaging	Het
Zfp451	A	T	1: 33,816,942 (GRCm39)	V119D	probably damaging	Het
Zfp457	T	A	13: 67,441,342 (GRCm39)	H315L	probably damaging	Het
Zfp518a	T	A	19: 40,904,295 (GRCm39)	V1408D	possibly damaging	Het
Zfp52	T	G	17: 21,780,665 (GRCm39)	L171R	probably benign	Het
Zfp712	C	T	13: 67,188,676 (GRCm39)	C617Y	probably damaging	Het
Zfp770	T	C	2: 114,027,868 (GRCm39)	N67S	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
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
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

Predicted Primers

PCR Primer
(F):5'- CGTGCTATCAGGGAAGCTAG -3'
(R):5'- TGATAGCAGGGCTCCAACAATAG -3'

Sequencing Primer
(F):5'- CTAGAGACCACAGTGAACCTGAG -3'
(R):5'- CGTGAGACTGTAAATGGTTGTC -3'

Posted On

2016-04-27