Mutagenetix > Incidental Mutation

Incidental Mutation 'R7789:Dnase2a'

599743

Institutional Source

Beutler Lab

Gene Symbol

Dnase2a

Ensembl Gene

ENSMUSG00000003812

Gene Name

deoxyribonuclease II alpha

Synonyms

MMRRC Submission

045845-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7789 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85635384-85638332 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 85635505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105366 (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 null
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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (77/78)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,682,175 (GRCm39)	E163K	probably benign	Het
Adam34	T	A	8: 44,105,488 (GRCm39)	R52S	probably benign	Het
Adcy8	A	T	15: 64,743,623 (GRCm39)	C328*	probably null	Het
Ankrd26	G	T	6: 118,504,760 (GRCm39)	S716R	possibly damaging	Het
Ankrd26	G	T	6: 118,504,759 (GRCm39)	H717N	probably damaging	Het
Ankrd40	C	A	11: 94,225,535 (GRCm39)	P189T	probably damaging	Het
Anln	A	G	9: 22,263,333 (GRCm39)	S113P		Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Asxl1	C	T	2: 153,241,943 (GRCm39)	T832I	probably benign	Het
Bicd2	C	T	13: 49,533,135 (GRCm39)	R574C	probably damaging	Het
Boll	T	C	1: 55,399,826 (GRCm39)		probably null	Het
Casr	A	G	16: 36,315,653 (GRCm39)	F806L	probably damaging	Het
Casz1	C	A	4: 149,013,863 (GRCm39)	N142K	probably benign	Het
Cbl	C	T	9: 44,074,764 (GRCm39)	D433N	probably damaging	Het
Ceacam14	T	A	7: 17,548,096 (GRCm39)	V62D	probably damaging	Het
Chst10	T	C	1: 38,923,532 (GRCm39)	N18S	probably benign	Het
Cyp2j6	C	T	4: 96,433,953 (GRCm39)	R119H	probably benign	Het
Cyp4a14	C	G	4: 115,352,107 (GRCm39)	V102L	probably benign	Het
Dnajb3	A	T	1: 88,133,399 (GRCm39)	M1K	probably null	Het
Dnajc6	A	T	4: 101,475,729 (GRCm39)	K534M	possibly damaging	Het
Dock10	A	G	1: 80,536,930 (GRCm39)	I985T	possibly damaging	Het
Emsy	G	T	7: 98,270,696 (GRCm39)	P436Q	probably damaging	Het
Enpp1	A	T	10: 24,529,981 (GRCm39)		probably null	Het
Erc1	T	A	6: 119,750,670 (GRCm39)	R353*	probably null	Het
Fbn2	T	A	18: 58,172,385 (GRCm39)	D2140V	probably benign	Het
Fgfr1	T	A	8: 26,052,329 (GRCm39)	Y218*	probably null	Het
Fhod1	C	T	8: 106,056,740 (GRCm39)	R1045H	probably damaging	Het
Focad	G	T	4: 88,147,643 (GRCm39)	L427F	unknown	Het
Gbf1	T	A	19: 46,242,441 (GRCm39)	L144M	probably damaging	Het
Glmn	T	G	5: 107,696,941 (GRCm39)	N592T	probably benign	Het
Golgb1	C	G	16: 36,695,761 (GRCm39)	P87A	unknown	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Insyn2b	T	A	11: 34,352,537 (GRCm39)	M193K	probably benign	Het
Itga9	T	G	9: 118,487,564 (GRCm39)	F216V	possibly damaging	Het
Klhl18	T	C	9: 110,268,076 (GRCm39)	D149G	unknown	Het
Lcat	C	T	8: 106,668,857 (GRCm39)	V114M	probably benign	Het
Lrrc8c	C	A	5: 105,755,066 (GRCm39)	N280K	probably damaging	Het
Mettl8	T	C	2: 70,796,806 (GRCm39)	Y283C	probably damaging	Het
Mgat4a	A	T	1: 37,529,360 (GRCm39)	I173K	probably damaging	Het
Mmp1a	T	C	9: 7,475,266 (GRCm39)	V345A	possibly damaging	Het
Mok	T	A	12: 110,778,261 (GRCm39)	H215L	probably damaging	Het
Mphosph9	C	G	5: 124,453,650 (GRCm39)	E221Q	probably damaging	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Myom1	A	G	17: 71,424,431 (GRCm39)	T1525A	probably benign	Het
Nap1l1	C	T	10: 111,326,317 (GRCm39)	S143L	probably benign	Het
Or1af1	C	T	2: 37,109,672 (GRCm39)	T57I	probably benign	Het
Or2j6	A	T	7: 139,980,610 (GRCm39)	Y116*	probably null	Het
Or52d1	T	A	7: 103,756,195 (GRCm39)	S236R	probably damaging	Het
Or7g29	G	T	9: 19,286,361 (GRCm39)	T272K	probably benign	Het
Plbd2	T	C	5: 120,623,819 (GRCm39)	S568G	probably damaging	Het
Plxna4	T	A	6: 32,183,168 (GRCm39)		probably null	Het
Plxnc1	T	A	10: 94,630,339 (GRCm39)	E1520V	probably damaging	Het
Ppil3	G	A	1: 58,473,538 (GRCm39)	T104I	possibly damaging	Het
Ptprm	A	T	17: 67,402,534 (GRCm39)	V118E	probably damaging	Het
Rimbp2	T	C	5: 128,851,399 (GRCm39)	D849G	probably damaging	Het
Rnf213	T	C	11: 119,361,045 (GRCm39)		probably null	Het
Sema3f	T	A	9: 107,582,631 (GRCm39)	K37N	probably benign	Het
Sh3glb1	G	T	3: 144,397,892 (GRCm39)		probably null	Het
Sh3rf3	A	G	10: 58,922,637 (GRCm39)	D571G	probably benign	Het
Sipa1l3	T	C	7: 29,077,150 (GRCm39)	Y874C	probably damaging	Het
Smchd1	G	A	17: 71,782,296 (GRCm39)		probably benign	Het
Snrnp70	A	T	7: 45,026,045 (GRCm39)	Y441*	probably null	Het
Ssrp1	C	T	2: 84,871,525 (GRCm39)	R316W	probably damaging	Het
Syt10	A	T	15: 89,711,101 (GRCm39)	V144E	probably damaging	Het
Tdrd12	A	G	7: 35,188,117 (GRCm39)	L562P		Het
Trim68	T	C	7: 102,333,676 (GRCm39)	D2G	possibly damaging	Het
Trub2	T	A	2: 29,667,920 (GRCm39)	H240L	probably damaging	Het
Tssc4	A	G	7: 142,623,515 (GRCm39)		probably null	Het
Usp7	T	A	16: 8,516,675 (GRCm39)	Q539L	probably benign	Het
Vmn2r17	T	A	5: 109,600,831 (GRCm39)	C710S	possibly damaging	Het
Vmn2r99	G	T	17: 19,614,079 (GRCm39)	V600F	possibly damaging	Het
Vps13d	C	T	4: 144,826,635 (GRCm39)	V2879M		Het
Vrtn	T	A	12: 84,697,080 (GRCm39)	M610K	probably benign	Het
Xpo4	T	C	14: 57,850,806 (GRCm39)	E366G	probably benign	Het
Zyg11a	G	A	4: 108,040,845 (GRCm39)	P703S	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
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
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
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'- TAGGGGAAGTTCATCTGAATCTCG -3'
(R):5'- AGCTGTTGATGTACCCTACAC -3'

Sequencing Primer
(F):5'- GGAAGTTCATCTGAATCTCGTGACC -3'
(R):5'- TTGCCAACCGTCGGAGTTC -3'

Posted On

2019-11-26