Mutagenetix > Incidental Mutation

Incidental Mutation 'R8050:Dnase1'

619026

Institutional Source

Beutler Lab

Gene Symbol

Dnase1

Ensembl Gene

ENSMUSG00000005980

Gene Name

deoxyribonuclease I

Synonyms

Dnl1, DNaseI

MMRRC Submission

067487-MU

Accession Numbers

Essential gene?

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

Stock #

R8050 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3855007-3857888 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3855861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 64 (D64V)

Ref Sequence

ENSEMBL: ENSMUSP00000006136 (fasta)

Gene Model

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

AlphaFold

P49183

Predicted Effect

probably damaging
Transcript: ENSMUST00000006136
AA Change: D64V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000006136
Gene: ENSMUSG00000005980
AA Change: D64V

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: D64V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113119
Gene: ENSMUSG00000005980
AA Change: D64V

Domain	Start	End	E-Value	Type
DNaseIc	6	282	5.04e-220	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000137748
AA Change: D64V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119934
Gene: ENSMUSG00000005980
AA Change: D64V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000157044
AA Change: D64V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120642
Gene: ENSMUSG00000005980
AA Change: D64V

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

probably damaging
Transcript: ENSMUST00000177337
AA Change: D64V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135442
Gene: ENSMUSG00000005980
AA Change: D64V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	T	A	7: 43,900,677 (GRCm39)	V194E	possibly damaging	Het
Adgrv1	T	C	13: 81,561,296 (GRCm39)	N5406S	probably damaging	Het
Arhgef38	T	A	3: 132,843,323 (GRCm39)	R416*	probably null	Het
Asb7	T	A	7: 66,328,932 (GRCm39)	Q36L	probably benign	Het
Bbof1	G	A	12: 84,457,991 (GRCm39)	M85I	probably benign	Het
Bin1	T	G	18: 32,539,198 (GRCm39)	F44V	probably damaging	Het
Bnc2	C	A	4: 84,210,573 (GRCm39)	V599L	probably benign	Het
Bnip3l	A	G	14: 67,226,651 (GRCm39)	S181P	probably damaging	Het
Btnl9	A	G	11: 49,066,442 (GRCm39)	L374P	probably benign	Het
Cd109	T	C	9: 78,571,633 (GRCm39)	I424T	probably benign	Het
Cdhr2	G	A	13: 54,882,035 (GRCm39)	V1162M	probably damaging	Het
Dgkb	G	A	12: 38,174,216 (GRCm39)	E181K	probably benign	Het
E130308A19Rik	T	C	4: 59,719,767 (GRCm39)	I433T	probably damaging	Het
Ecsit	C	T	9: 21,987,592 (GRCm39)	R149H	probably benign	Het
Eif1ad8	G	A	12: 87,563,911 (GRCm39)	R82Q	possibly damaging	Het
Enpep	A	T	3: 129,099,165 (GRCm39)	V437E	probably damaging	Het
Esrp1	A	T	4: 11,338,767 (GRCm39)	V679D	probably damaging	Het
Fa2h	T	A	8: 112,074,817 (GRCm39)		probably null	Het
Fabp1	G	A	6: 71,176,956 (GRCm39)	E16K	probably damaging	Het
Fstl5	T	A	3: 76,614,810 (GRCm39)	S624T	probably benign	Het
Gemin5	G	A	11: 58,019,686 (GRCm39)	R1128W	probably benign	Het
H2bc8	T	C	13: 23,755,841 (GRCm39)	S79P	probably damaging	Het
Hps3	T	C	3: 20,057,492 (GRCm39)	H896R	probably benign	Het
Hsf1	T	A	15: 76,382,481 (GRCm39)	I284K	probably benign	Het
Igkv3-2	T	A	6: 70,675,988 (GRCm39)	I99N	probably damaging	Het
Iqub	T	A	6: 24,503,784 (GRCm39)	I163F	possibly damaging	Het
Jak2	T	C	19: 29,275,732 (GRCm39)	I724T	probably damaging	Het
Kbtbd3	A	T	9: 4,330,408 (GRCm39)	T261S	probably benign	Het
Kctd20	G	T	17: 29,171,732 (GRCm39)		probably null	Het
Kif28	C	T	1: 179,537,014 (GRCm39)	V490M	probably benign	Het
Kif9	T	C	9: 110,348,208 (GRCm39)	L677P	probably damaging	Het
Klhl18	T	C	9: 110,257,829 (GRCm39)	Y537C	probably damaging	Het
Mmut	T	A	17: 41,254,784 (GRCm39)	I331K	probably benign	Het
Myo5a	T	A	9: 75,089,228 (GRCm39)	S1119R	probably damaging	Het
Napepld	C	A	5: 21,870,319 (GRCm39)	E366D	probably benign	Het
Nbea	A	G	3: 55,895,402 (GRCm39)	V1540A	probably damaging	Het
Neb	T	A	2: 52,111,738 (GRCm39)	I130L	probably benign	Het
Opcml	T	C	9: 28,724,640 (GRCm39)	V146A	probably damaging	Het
Or2g7	T	C	17: 38,378,370 (GRCm39)	S103P	probably damaging	Het
Or2r11	A	T	6: 42,437,764 (GRCm39)	L63H	probably damaging	Het
Or7e178	C	T	9: 20,225,941 (GRCm39)	D92N	probably damaging	Het
Pappa2	A	C	1: 158,675,970 (GRCm39)	C925W	probably damaging	Het
Parp12	T	A	6: 39,066,038 (GRCm39)	N562Y	probably damaging	Het
Patj	C	A	4: 98,427,201 (GRCm39)	H1198Q	probably benign	Het
Pcyox1	T	A	6: 86,366,128 (GRCm39)	K362M	possibly damaging	Het
Pcyt2	T	C	11: 120,501,765 (GRCm39)	Y350C	probably benign	Het
Pkd1	A	T	17: 24,784,617 (GRCm39)	T388S	probably benign	Het
Prl3d1	T	A	13: 27,284,011 (GRCm39)	Y193*	probably null	Het
Psme1	A	T	14: 55,817,056 (GRCm39)	D15V	possibly damaging	Het
Qrsl1	G	A	10: 43,750,631 (GRCm39)	R476C	probably damaging	Het
Ranbp2	A	G	10: 58,315,441 (GRCm39)	N2054D	probably damaging	Het
Serpinb1c	T	A	13: 33,066,052 (GRCm39)	K298*	probably null	Het
Slc22a27	A	T	19: 7,857,532 (GRCm39)	M355K	probably benign	Het
Spp1	T	A	5: 104,588,280 (GRCm39)	H227Q	probably benign	Het
Stam2	T	A	2: 52,609,785 (GRCm39)	N75I	probably damaging	Het
Tacc1	T	C	8: 25,659,230 (GRCm39)	T579A	probably benign	Het
Tbx3	A	G	5: 119,821,132 (GRCm39)	D734G	probably benign	Het
Tmem233	G	T	5: 116,221,141 (GRCm39)	S35*	probably null	Het
Trim43c	A	T	9: 88,722,390 (GRCm39)	E12V	probably damaging	Het
Trio	A	G	15: 27,891,540 (GRCm39)	S463P	unknown	Het
Uggt2	A	T	14: 119,263,834 (GRCm39)	D1065E	probably damaging	Het
Usp1	A	G	4: 98,817,150 (GRCm39)	N114S	probably benign	Het
Usp34	A	G	11: 23,396,787 (GRCm39)	E2377G		Het
Virma	T	A	4: 11,528,643 (GRCm39)	H1243Q	probably benign	Het
Vmn2r3	A	T	3: 64,178,714 (GRCm39)	V517D	probably damaging	Het
Zfp931	T	C	2: 177,709,889 (GRCm39)	K166E	probably damaging	Het
Zp3	T	A	5: 136,011,604 (GRCm39)	Y141N	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
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
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
R9781:Dnase1	UTSW	16	3,857,054 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GATGTCAGCCCAGATTACGG -3'
(R):5'- TGTCCCTGGATAAAGGAAACC -3'

Sequencing Primer
(F):5'- GTCAGCCCAGATTACGGTCCAC -3'
(R):5'- CCCTGGATAAAGGAAACCAAAGGTAC -3'

Posted On

2020-01-23