Mutagenetix > Incidental Mutation

Incidental Mutation 'R1870:Dnase2a'

210653

Institutional Source

Beutler Lab

Gene Symbol

Dnase2a

Ensembl Gene

ENSMUSG00000003812

Gene Name

deoxyribonuclease II alpha

Synonyms

MMRRC Submission

039892-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1870 (G1)

Quality Score

174

Status

Validated

Chromosome

Chromosomal Location

85635384-85638332 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to C at 85635392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003910] [ENSMUST00000067060] [ENSMUST00000109741] [ENSMUST00000109744] [ENSMUST00000119820] [ENSMUST00000134569] [ENSMUST00000145292]

AlphaFold

P56542

Predicted Effect

probably benign
Transcript: ENSMUST00000003910

SMART Domains

Protein: ENSMUSP00000003910
Gene: ENSMUSG00000003812

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:DNase_II	21	349	5.8e-116	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000067060

SMART Domains

Protein: ENSMUSP00000064366
Gene: ENSMUSG00000054191

Domain	Start	End	E-Value	Type
Pfam:EKLF_TAD1	40	66	9e-23	PFAM
Pfam:EKLF_TAD2	78	103	4.9e-16	PFAM
low complexity region	153	180	N/A	INTRINSIC
low complexity region	197	212	N/A	INTRINSIC
low complexity region	235	246	N/A	INTRINSIC
ZnF_C2H2	293	317	2.2e-2	SMART
ZnF_C2H2	323	347	7.49e-5	SMART
ZnF_C2H2	353	375	3.34e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109741

SMART Domains

Protein: ENSMUSP00000105363
Gene: ENSMUSG00000053693

Domain	Start	End	E-Value	Type
Pfam:DUF1908	61	337	1.4e-136	PFAM
S_TKc	376	649	4.07e-97	SMART
S_TK_X	650	710	6.23e-2	SMART
low complexity region	820	836	N/A	INTRINSIC
low complexity region	863	878	N/A	INTRINSIC
low complexity region	933	961	N/A	INTRINSIC
PDZ	977	1057	3.49e-14	SMART
low complexity region	1104	1132	N/A	INTRINSIC
low complexity region	1149	1174	N/A	INTRINSIC
low complexity region	1212	1224	N/A	INTRINSIC
low complexity region	1243	1252	N/A	INTRINSIC
low complexity region	1479	1492	N/A	INTRINSIC
low complexity region	1519	1535	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109744

SMART Domains

Protein: ENSMUSP00000105366
Gene: ENSMUSG00000003812

Domain	Start	End	E-Value	Type
Pfam:DNase_II	9	328	4.8e-114	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119820

SMART Domains

Protein: ENSMUSP00000113547
Gene: ENSMUSG00000053693

Domain	Start	End	E-Value	Type
Pfam:DUF1908	61	338	5.1e-148	PFAM
S_TKc	376	644	2.79e-86	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128400

Predicted Effect

probably benign
Transcript: ENSMUST00000134569

SMART Domains

Protein: ENSMUSP00000117198
Gene: ENSMUSG00000003812

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:DNase_II	20	119	6.6e-32	PFAM
Pfam:DNase_II	115	182	4.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145292

SMART Domains

Protein: ENSMUSP00000138203
Gene: ENSMUSG00000003812

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:DNase_II	20	97	2.4e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155942

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153215

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.1%

Validation Efficiency

97% (96/99)

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. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions and mediates the breakdown of DNA during erythropoiesis and apoptosis. Two codominant alleles have been characterized, DNASE2*L (low activity) and DNASE2*H (high activity), that differ at one nucleotide in the promoter region. The DNASE2*H allele is represented in this record. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted mutations of this gene result in perinatal death, anemia, and impaired definitive erythropoiesis in the fetal liver. Homozygotes for one null mutation display diaphragm abnormalities and asphyxiation, as well as a specific defect in the phagocytic phase of apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,242,134 (GRCm39)	E1332D	probably benign	Het
Abca5	C	A	11: 110,220,043 (GRCm39)	V8L	probably benign	Het
Abcc8	C	T	7: 45,773,339 (GRCm39)	E797K	probably benign	Het
Acd	C	A	8: 106,425,039 (GRCm39)		probably null	Het
Adam34l	A	T	8: 44,078,132 (GRCm39)	Y697*	probably null	Het
Adamts12	T	C	15: 11,311,240 (GRCm39)	S1166P	probably benign	Het
Alox12b	T	C	11: 69,049,199 (GRCm39)	Y83H	possibly damaging	Het
Antxr2	A	T	5: 98,178,297 (GRCm39)	S38T	probably damaging	Het
Aox1	A	G	1: 58,115,262 (GRCm39)	E749G	probably damaging	Het
Arpc1a	T	A	5: 145,043,901 (GRCm39)	C344S	possibly damaging	Het
Bcan	T	C	3: 87,902,908 (GRCm39)	Y290C	probably damaging	Het
Bod1l	G	A	5: 41,991,018 (GRCm39)	S179F	possibly damaging	Het
Catsper3	A	C	13: 55,953,561 (GRCm39)	D224A	probably damaging	Het
Ccar2	A	G	14: 70,377,946 (GRCm39)	S680P	probably damaging	Het
Ccdc18	A	G	5: 108,368,703 (GRCm39)	H1275R	possibly damaging	Het
Ccdc40	T	C	11: 119,150,730 (GRCm39)	M1011T	possibly damaging	Het
Cfap46	T	A	7: 139,263,386 (GRCm39)	D17V	probably damaging	Het
Csn1s2a	T	C	5: 87,926,058 (GRCm39)	F45L	probably benign	Het
Cwf19l2	T	G	9: 3,458,802 (GRCm39)	N750K	possibly damaging	Het
Cyb5r4	A	G	9: 86,922,462 (GRCm39)	D157G	probably benign	Het
D130040H23Rik	T	A	8: 69,755,354 (GRCm39)	I253N	probably benign	Het
Dennd4a	C	T	9: 64,804,516 (GRCm39)	A1285V	probably benign	Het
Dlat	A	G	9: 50,548,874 (GRCm39)	S561P	probably damaging	Het
Dlgap2	T	A	8: 14,823,347 (GRCm39)	V522E	probably damaging	Het
Dnah5	T	A	15: 28,331,859 (GRCm39)	Y2148*	probably null	Het
Elapor2	A	G	5: 9,468,007 (GRCm39)	E225G	probably damaging	Het
Fam83f	T	C	15: 80,574,113 (GRCm39)		probably benign	Het
Firrm	G	A	1: 163,792,363 (GRCm39)	L545F	probably damaging	Het
Foxi1	A	T	11: 34,157,937 (GRCm39)	N29K	possibly damaging	Het
Galk2	T	C	2: 125,817,183 (GRCm39)	L324P	probably benign	Het
Gdpd4	G	A	7: 97,622,162 (GRCm39)	V214I	probably benign	Het
Gfra3	C	T	18: 34,844,373 (GRCm39)	A56T	probably damaging	Het
Glyctk	A	G	9: 106,032,547 (GRCm39)	S489P	probably damaging	Het
Izumo4	A	T	10: 80,539,569 (GRCm39)	I135F	probably damaging	Het
Krt87	T	A	15: 101,385,071 (GRCm39)	T342S	probably benign	Het
L1td1	T	A	4: 98,625,714 (GRCm39)	D636E	possibly damaging	Het
Letm2	A	G	8: 26,086,460 (GRCm39)		probably benign	Het
Lpin1	A	G	12: 16,591,744 (GRCm39)	F828L	probably damaging	Het
Lrrc37	T	C	11: 103,511,431 (GRCm39)	D179G	unknown	Het
Mdn1	T	A	4: 32,763,339 (GRCm39)	D5146E	probably damaging	Het
Megf10	T	A	18: 57,324,257 (GRCm39)	Y99*	probably null	Het
Men1	A	G	19: 6,387,660 (GRCm39)	D285G	probably damaging	Het
Mertk	T	G	2: 128,643,116 (GRCm39)	D838E	probably benign	Het
Mta1	T	C	12: 113,091,694 (GRCm39)	S266P	possibly damaging	Het
Mta3	G	A	17: 84,089,397 (GRCm39)	V320M	probably damaging	Het
Nlrp9c	G	A	7: 26,084,245 (GRCm39)	Q445*	probably null	Het
Or2m12	A	T	16: 19,105,357 (GRCm39)	N45K	probably damaging	Het
Or51e1	T	C	7: 102,358,961 (GRCm39)	I165T	possibly damaging	Het
Or8b38	A	T	9: 37,972,646 (GRCm39)	K10I	probably benign	Het
Or8d6	T	G	9: 39,854,117 (GRCm39)	I187R	probably damaging	Het
Pbrm1	T	A	14: 30,828,132 (GRCm39)	L1320I	probably damaging	Het
Pdzd2	G	T	15: 12,457,972 (GRCm39)	T297K	probably damaging	Het
Pfas	T	C	11: 68,882,795 (GRCm39)	D782G	probably damaging	Het
Pik3c3	T	C	18: 30,426,185 (GRCm39)		probably null	Het
Pira2	T	C	7: 3,847,452 (GRCm39)	N79S	probably damaging	Het
Pkdrej	G	T	15: 85,700,632 (GRCm39)	T1768K	probably damaging	Het
Plcb3	T	C	19: 6,940,353 (GRCm39)	I439V	probably benign	Het
Pold4	T	A	19: 4,282,593 (GRCm39)	Y58*	probably null	Het
Ppef2	T	G	5: 92,398,371 (GRCm39)	Q49P	probably damaging	Het
Ralgapa1	T	A	12: 55,723,817 (GRCm39)	I2026F	possibly damaging	Het
Rest	T	A	5: 77,416,209 (GRCm39)	V141E	possibly damaging	Het
Rnf139	T	C	15: 58,771,202 (GRCm39)	V409A	probably benign	Het
Rnpc3	T	C	3: 113,404,704 (GRCm39)		probably benign	Het
S100a10	A	T	3: 93,468,377 (GRCm39)	E36V	probably benign	Het
S1pr3	A	C	13: 51,573,952 (GRCm39)	K378Q	probably benign	Het
Scaper	T	A	9: 55,593,222 (GRCm39)	I472F	probably damaging	Het
Sgcg	G	A	14: 61,477,896 (GRCm39)		probably benign	Het
Shank1	A	T	7: 43,991,539 (GRCm39)	R69*	probably null	Het
Shoc1	G	A	4: 59,054,142 (GRCm39)		probably benign	Het
Siglecf	A	G	7: 43,004,967 (GRCm39)	N399S	probably benign	Het
Slc25a54	T	A	3: 108,987,932 (GRCm39)	Y24*	probably null	Het
Slc29a4	T	C	5: 142,707,243 (GRCm39)	*529R	probably null	Het
Slc41a2	G	A	10: 83,137,029 (GRCm39)	Q293*	probably null	Het
Slc4a7	T	C	14: 14,737,509 (GRCm38)		probably null	Het
Slfn9	G	T	11: 82,872,402 (GRCm39)	T778N	probably benign	Het
Ssr2	T	C	3: 88,483,949 (GRCm39)		probably benign	Het
Tecrl	T	A	5: 83,502,706 (GRCm39)	T33S	probably benign	Het
Tnfrsf9	T	A	4: 151,018,804 (GRCm39)	C158*	probably null	Het
Tradd	T	C	8: 105,985,792 (GRCm39)	E253G	possibly damaging	Het
Usp34	A	G	11: 23,314,479 (GRCm39)	H807R	probably benign	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vmn2r27	T	C	6: 124,201,170 (GRCm39)	I262M	probably benign	Het
Vps13a	A	G	19: 16,737,316 (GRCm39)	V91A	probably damaging	Het
Vwf	C	T	6: 125,619,902 (GRCm39)	R1527C	probably damaging	Het
Wwc1	C	T	11: 35,752,772 (GRCm39)	G763D	probably damaging	Het
Zfp526	T	G	7: 24,924,594 (GRCm39)	D284E	possibly damaging	Het
Zfp646	T	C	7: 127,483,021 (GRCm39)	F1733L	possibly damaging	Het
Zfp90	A	G	8: 107,145,755 (GRCm39)	H29R	probably benign	Het
Zkscan4	A	G	13: 21,668,104 (GRCm39)	E185G	probably benign	Het

Other mutations in Dnase2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0211:Dnase2a	UTSW	8	85,635,417 (GRCm39)	unclassified	probably benign
R0211:Dnase2a	UTSW	8	85,635,417 (GRCm39)	unclassified	probably benign
R0396:Dnase2a	UTSW	8	85,636,392 (GRCm39)	splice site	probably benign
R1845:Dnase2a	UTSW	8	85,635,951 (GRCm39)	missense	probably benign	0.19
R1939:Dnase2a	UTSW	8	85,637,524 (GRCm39)	missense	possibly damaging	0.83
R2113:Dnase2a	UTSW	8	85,637,500 (GRCm39)	missense	probably damaging	0.99
R2442:Dnase2a	UTSW	8	85,635,622 (GRCm39)	missense	probably damaging	1.00
R4815:Dnase2a	UTSW	8	85,636,506 (GRCm39)	missense	probably benign	0.12
R4913:Dnase2a	UTSW	8	85,635,477 (GRCm39)	missense	probably damaging	1.00
R4922:Dnase2a	UTSW	8	85,635,625 (GRCm39)	splice site	probably null
R5183:Dnase2a	UTSW	8	85,636,207 (GRCm39)	intron	probably benign
R6239:Dnase2a	UTSW	8	85,635,508 (GRCm39)	splice site	probably null
R6951:Dnase2a	UTSW	8	85,636,254 (GRCm39)	missense	possibly damaging	0.93
R7215:Dnase2a	UTSW	8	85,636,399 (GRCm39)	critical splice acceptor site	probably null
R7789:Dnase2a	UTSW	8	85,635,505 (GRCm39)	critical splice donor site	probably null
R8434:Dnase2a	UTSW	8	85,636,410 (GRCm39)	missense	probably damaging	1.00
R9447:Dnase2a	UTSW	8	85,635,786 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTCCACGGATGAAGCCTATC -3'
(R):5'- CCGTGAAGACATGAGGTTGG -3'

Sequencing Primer
(F):5'- ATGAAGCCTATCCGGAGCTG -3'
(R):5'- TTGGGGGAGAGAAGGAATCTG -3'

Posted On

2014-06-30