Mutagenetix > Incidental Mutation

Incidental Mutation 'R0396:Dnase2a'

32053

Institutional Source

Beutler Lab

Gene Symbol

Dnase2a

Ensembl Gene

ENSMUSG00000003812

Gene Name

deoxyribonuclease II alpha

Synonyms

MMRRC Submission

038602-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0396 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85635384-85638332 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 85636392 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: ENSMUST00000153215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155942

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 89.8%

Validation Efficiency

92% (96/104)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	G	A	8: 106,436,412 (GRCm39)	V194I	probably benign	Het
Acsm1	A	T	7: 119,235,678 (GRCm39)	I133F	probably damaging	Het
Adamts9	T	A	6: 92,774,986 (GRCm39)	T1676S	probably benign	Het
Adcy4	T	C	14: 56,009,745 (GRCm39)	D769G	probably benign	Het
Aif1	T	C	17: 35,390,085 (GRCm39)	*148W	probably null	Het
Akna	C	T	4: 63,310,363 (GRCm39)		probably benign	Het
Arhgap32	G	A	9: 32,156,551 (GRCm39)		probably null	Het
Atpaf1	G	A	4: 115,642,449 (GRCm39)	E92K	possibly damaging	Het
Bltp2	T	C	11: 78,159,203 (GRCm39)	V467A	possibly damaging	Het
C1s1	T	C	6: 124,510,313 (GRCm39)	E378G	probably benign	Het
Caprin1	T	A	2: 103,599,914 (GRCm39)	Q108L	probably damaging	Het
Car13	A	T	3: 14,721,299 (GRCm39)	H154L	probably benign	Het
Cdon	C	A	9: 35,381,426 (GRCm39)	N605K	probably damaging	Het
Ceacam10	G	A	7: 24,480,439 (GRCm39)	G70E	probably damaging	Het
Cfap221	G	A	1: 119,881,930 (GRCm39)	T286M	probably benign	Het
Cfap61	T	C	2: 145,791,864 (GRCm39)	F107S	possibly damaging	Het
Coil	C	A	11: 88,872,449 (GRCm39)	T270N	probably benign	Het
Crocc2	T	G	1: 93,151,936 (GRCm39)		probably benign	Het
Crot	T	C	5: 9,019,959 (GRCm39)	E461G	probably damaging	Het
D130052B06Rik	G	T	11: 33,573,391 (GRCm39)	R41L	unknown	Het
D630045J12Rik	T	C	6: 38,173,671 (GRCm39)	S166G	possibly damaging	Het
Dennd4a	T	G	9: 64,769,673 (GRCm39)	V460G	probably damaging	Het
Depdc7	A	T	2: 104,557,668 (GRCm39)		probably benign	Het
Dgkb	G	A	12: 38,240,134 (GRCm39)		probably null	Het
Dhx57	T	G	17: 80,582,226 (GRCm39)	S407R	probably benign	Het
Dqx1	T	G	6: 83,035,986 (GRCm39)	M106R	probably benign	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Ephx2	T	G	14: 66,345,512 (GRCm39)	I151L	probably benign	Het
Gdf3	C	T	6: 122,584,094 (GRCm39)	G91D	probably damaging	Het
Gpc5	T	A	14: 115,665,620 (GRCm39)	N481K	possibly damaging	Het
Gsdme	T	A	6: 50,198,087 (GRCm39)	H291L	probably benign	Het
H2-T13	A	G	17: 36,394,614 (GRCm39)	I103T	possibly damaging	Het
Hif3a	G	A	7: 16,785,946 (GRCm39)		probably benign	Het
Hmox2	A	T	16: 4,583,627 (GRCm39)	I232L	probably benign	Het
Itgb2	A	G	10: 77,397,023 (GRCm39)	Y686C	probably damaging	Het
Jmjd1c	A	G	10: 67,055,302 (GRCm39)	T528A	possibly damaging	Het
Kdr	T	C	5: 76,121,388 (GRCm39)	I541V	possibly damaging	Het
Khdrbs2	C	A	1: 32,559,054 (GRCm39)	V343L	probably damaging	Het
Kif16b	C	T	2: 142,695,579 (GRCm39)	R175H	probably damaging	Het
Klri2	T	G	6: 129,717,251 (GRCm39)	E44A	possibly damaging	Het
Kmt2b	G	T	7: 30,276,180 (GRCm39)	T1773K	probably damaging	Het
Lair1	A	G	7: 4,013,785 (GRCm39)	L154P	probably damaging	Het
Larp1b	G	A	3: 40,924,996 (GRCm39)	V158M	probably damaging	Het
Lgi3	T	A	14: 70,772,280 (GRCm39)	I275N	probably damaging	Het
Lrba	A	G	3: 86,202,486 (GRCm39)	N246D	probably damaging	Het
Lrrc45	T	A	11: 120,605,733 (GRCm39)		probably benign	Het
Mdh2	G	T	5: 135,818,533 (GRCm39)	V263L	probably benign	Het
Myom1	T	A	17: 71,341,688 (GRCm39)	V149E	probably damaging	Het
Nanos1	A	T	19: 60,745,479 (GRCm39)	D259V	probably damaging	Het
Nedd4l	T	A	18: 65,294,725 (GRCm39)		probably benign	Het
Npas3	A	G	12: 53,878,528 (GRCm39)	Y150C	probably damaging	Het
Or10ab4	A	T	7: 107,655,170 (GRCm39)	H327L	probably benign	Het
Or10ag59	T	A	2: 87,405,911 (GRCm39)	V161D	possibly damaging	Het
Or2h1b	C	T	17: 37,462,446 (GRCm39)	C139Y	probably damaging	Het
Or2y1f	A	T	11: 49,184,165 (GRCm39)	I6F	probably benign	Het
Or52e15	G	A	7: 104,645,913 (GRCm39)	A66V	probably damaging	Het
Or8k28	T	C	2: 86,286,363 (GRCm39)	N84S	possibly damaging	Het
Pde4c	A	G	8: 71,202,725 (GRCm39)	N637S	probably benign	Het
Pds5b	T	A	5: 150,702,740 (GRCm39)	V824D	possibly damaging	Het
Pole2	A	T	12: 69,269,160 (GRCm39)		probably benign	Het
Ppig	C	T	2: 69,566,320 (GRCm39)		probably benign	Het
Prep	A	G	10: 44,968,772 (GRCm39)	Y90C	probably damaging	Het
Proca1	A	T	11: 78,085,731 (GRCm39)	R11S	probably damaging	Het
Prph	T	A	15: 98,954,872 (GRCm39)	W313R	probably benign	Het
Prune2	C	T	19: 17,100,444 (GRCm39)	P1983S	probably benign	Het
Ptbp2	G	A	3: 119,517,847 (GRCm39)		probably benign	Het
Rsph6a	C	T	7: 18,808,031 (GRCm39)	P398L	probably damaging	Het
Sdk2	T	C	11: 113,720,793 (GRCm39)	I1379V	probably benign	Het
Sf3b1	C	T	1: 55,058,430 (GRCm39)	G53E	probably damaging	Het
Slc9a3	T	C	13: 74,305,903 (GRCm39)		probably null	Het
Smarcal1	A	T	1: 72,665,632 (GRCm39)	H710L	probably benign	Het
Soat2	GAGAAG	GAG	15: 102,059,142 (GRCm39)		probably benign	Het
Sptan1	T	C	2: 29,881,045 (GRCm39)	V438A	probably damaging	Het
Sstr4	T	A	2: 148,238,181 (GRCm39)	V264D	probably damaging	Het
Susd2	A	G	10: 75,475,745 (GRCm39)	L418P	probably damaging	Het
Synj1	A	G	16: 90,735,528 (GRCm39)	V1475A	probably benign	Het
Szt2	G	A	4: 118,233,544 (GRCm39)		probably benign	Het
Tbc1d4	T	C	14: 101,695,499 (GRCm39)		probably null	Het
Tesk1	A	G	4: 43,446,000 (GRCm39)	E311G	probably damaging	Het
Tmed5	A	T	5: 108,273,882 (GRCm39)	V119E	probably damaging	Het
Tmem260	T	C	14: 48,724,324 (GRCm39)	S201P	possibly damaging	Het
Tnxb	A	G	17: 34,890,707 (GRCm39)	Y350C	probably damaging	Het
Tpte	T	C	8: 22,825,624 (GRCm39)		probably benign	Het
Trim37	A	T	11: 87,037,794 (GRCm39)	D161V	probably damaging	Het
Trrap	C	A	5: 144,751,366 (GRCm39)	Q1640K	probably damaging	Het
Tspoap1	T	C	11: 87,667,172 (GRCm39)		probably benign	Het
Ttk	T	A	9: 83,729,313 (GRCm39)		probably benign	Het
Vmn1r172	A	G	7: 23,359,957 (GRCm39)	S281G	probably benign	Het
Vmn1r177	A	G	7: 23,565,022 (GRCm39)	S285P	probably damaging	Het
Vmn1r231	C	T	17: 21,110,661 (GRCm39)	V85I	probably damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r118	T	C	17: 55,915,643 (GRCm39)	I436V	probably benign	Het
Vmn2r12	T	C	5: 109,240,765 (GRCm39)	K116R	probably benign	Het
Vmn2r28	T	A	7: 5,491,513 (GRCm39)	I245L	probably benign	Het
Wdr26	A	T	1: 181,008,216 (GRCm39)		probably benign	Het
Xrcc3	A	T	12: 111,776,391 (GRCm39)	H67Q	probably benign	Het
Zbbx	A	T	3: 74,985,802 (GRCm39)	S417T	possibly damaging	Het
Zc3h13	A	G	14: 75,560,922 (GRCm39)	D504G	unknown	Het
Zfp1005	G	A	2: 150,109,973 (GRCm39)	G221D	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zyg11b	A	T	4: 108,112,505 (GRCm39)	F388I	probably damaging	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
R1845:Dnase2a	UTSW	8	85,635,951 (GRCm39)	missense	probably benign	0.19
R1870:Dnase2a	UTSW	8	85,635,392 (GRCm39)	start gained	probably benign
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'- GGCCTCCTAATGCTCAAACCTTCG -3'
(R):5'- AACCCGTCTGCTGGCTGTTTACTG -3'

Sequencing Primer
(F):5'- TGCTCAAACCTTCGGCCAG -3'
(R):5'- AGACATCTGGGCTCTAAATGTG -3'

Posted On

2013-04-24