Mutagenetix > Incidental Mutation

Incidental Mutation 'R7215:Dnase2a'

561394

Institutional Source

Beutler Lab

Gene Symbol

Dnase2a

Ensembl Gene

ENSMUSG00000003812

Gene Name

deoxyribonuclease II alpha

Synonyms

MMRRC Submission

045287-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7215 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85635384-85638332 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 85636399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000003910 (fasta)

Gene Model

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

AlphaFold

P56542

Predicted Effect

probably null
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 null
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 null
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: 98.8%

Validation Efficiency

98% (79/81)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	G	A	13: 77,471,690 (GRCm39)	V1032M	possibly damaging	Het
Abca13	T	A	11: 9,238,405 (GRCm39)		probably null	Het
Adamts14	T	A	10: 61,047,375 (GRCm39)	H739L	possibly damaging	Het
Adgrl3	A	G	5: 81,841,397 (GRCm39)	E758G	probably damaging	Het
Ano3	T	A	2: 110,496,277 (GRCm39)	T826S	probably damaging	Het
Arhgap45	C	T	10: 79,861,316 (GRCm39)	T493I	possibly damaging	Het
Atg9b	A	C	5: 24,593,039 (GRCm39)	W455G	probably damaging	Het
Atp4a	A	G	7: 30,416,785 (GRCm39)	N496S	possibly damaging	Het
Bckdk	T	A	7: 127,504,282 (GRCm39)	D60E	possibly damaging	Het
Blmh	A	T	11: 76,856,725 (GRCm39)	K244*	probably null	Het
Btbd17	T	C	11: 114,682,291 (GRCm39)	I474V	possibly damaging	Het
C87436	A	G	6: 86,439,662 (GRCm39)	E451G	possibly damaging	Het
Camta1	T	C	4: 151,229,194 (GRCm39)	E546G	probably damaging	Het
Casp1	A	G	9: 5,298,523 (GRCm39)		probably null	Het
Ccdc116	A	G	16: 16,957,792 (GRCm39)	Y456H	probably damaging	Het
Cep350	A	C	1: 155,770,453 (GRCm39)	S1812R	possibly damaging	Het
Chrna10	A	G	7: 101,761,415 (GRCm39)	L392P	possibly damaging	Het
Col22a1	A	T	15: 71,842,181 (GRCm39)	C434*	probably null	Het
Cxcl9	G	A	5: 92,471,747 (GRCm39)	Q98*	probably null	Het
Cyp2c54	G	A	19: 40,034,626 (GRCm39)	T348I	probably damaging	Het
Dnah7a	G	A	1: 53,657,509 (GRCm39)	R756C	probably damaging	Het
Dnajc18	T	C	18: 35,815,034 (GRCm39)	T239A	probably benign	Het
Dpyd	A	G	3: 119,059,681 (GRCm39)	T793A	probably benign	Het
Edil3	T	C	13: 88,970,169 (GRCm39)		probably null	Het
Ehd1	T	A	19: 6,347,672 (GRCm39)	I342N	possibly damaging	Het
Erbb4	A	T	1: 68,378,619 (GRCm39)	S341T	probably benign	Het
Ezh1	T	A	11: 101,106,125 (GRCm39)	T87S	probably benign	Het
Fam20b	A	T	1: 156,518,123 (GRCm39)	W224R	probably damaging	Het
Galns	A	T	8: 123,326,087 (GRCm39)		probably null	Het
Gm13283	C	T	4: 88,678,967 (GRCm39)		probably benign	Het
Gm49342	A	T	14: 51,182,040 (GRCm39)	M23L	probably benign	Het
Gm5114	T	A	7: 39,060,795 (GRCm39)	H18L	probably benign	Het
Gpr89	A	G	3: 96,787,404 (GRCm39)	W299R	probably damaging	Het
Hadha	G	T	5: 30,324,840 (GRCm39)	N755K	probably benign	Het
Inpp5d	A	T	1: 87,628,940 (GRCm39)	H620L	probably benign	Het
Klk1b3	T	A	7: 43,849,828 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,401,097 (GRCm39)	T663A	probably damaging	Het
Man1b1	A	G	2: 25,240,402 (GRCm39)	N601S	probably benign	Het
Mbtps1	A	G	8: 120,251,307 (GRCm39)	V605A	possibly damaging	Het
Med23	C	G	10: 24,764,327 (GRCm39)	D311E	probably benign	Het
Myo3a	G	T	2: 22,250,378 (GRCm39)	D82Y	possibly damaging	Het
Nsd1	T	A	13: 55,395,454 (GRCm39)	D1121E	probably benign	Het
Odad1	C	T	7: 45,586,046 (GRCm39)	R148C	probably damaging	Het
Or4c116	G	A	2: 88,942,845 (GRCm39)	Q4*	probably null	Het
Or5al1	C	T	2: 85,989,800 (GRCm39)	V305I	probably benign	Het
Or8b3b	A	G	9: 38,584,743 (GRCm39)	I12T	probably benign	Het
Otoa	T	C	7: 120,717,795 (GRCm39)	V19A	unknown	Het
Pcdhb20	A	T	18: 37,638,439 (GRCm39)	T322S	probably benign	Het
Pecam1	T	C	11: 106,586,745 (GRCm39)	T257A	probably benign	Het
Pi16	G	T	17: 29,538,072 (GRCm39)		probably benign	Het
Pik3c2g	C	T	6: 139,700,589 (GRCm39)	T293M		Het
Pira13	C	T	7: 3,825,310 (GRCm39)	C444Y	unknown	Het
Pkhd1l1	T	A	15: 44,391,559 (GRCm39)	C1542S	possibly damaging	Het
Prrc2b	G	A	2: 32,119,309 (GRCm39)	G2172R	probably damaging	Het
Prrt1	A	T	17: 34,848,677 (GRCm39)		probably null	Het
Ptprb	T	A	10: 116,174,681 (GRCm39)	N784K	possibly damaging	Het
Rem1	C	A	2: 152,470,069 (GRCm39)	S18R	probably damaging	Het
Ripk4	G	A	16: 97,548,523 (GRCm39)		probably null	Het
Scn8a	G	A	15: 100,927,711 (GRCm39)	V1397I	possibly damaging	Het
Setbp1	T	A	18: 78,900,052 (GRCm39)	H1205L	probably damaging	Het
Shmt1	T	C	11: 60,692,361 (GRCm39)	I132V	probably damaging	Het
Slc24a1	T	A	9: 64,835,785 (GRCm39)	T781S	unknown	Het
Sncaip	C	T	18: 53,040,415 (GRCm39)	Q870*	probably null	Het
Stab1	A	T	14: 30,882,754 (GRCm39)	N416K	possibly damaging	Het
Tcea1	A	G	1: 4,937,706 (GRCm39)	D26G	probably damaging	Het
Tcf20	A	T	15: 82,737,690 (GRCm39)	S1254T	probably benign	Het
Tead4	T	A	6: 128,205,641 (GRCm39)	I354F	probably damaging	Het
Tex36	G	A	7: 133,189,147 (GRCm39)	R142*	probably null	Het
Trav6d-3	T	A	14: 52,962,799 (GRCm39)	L12Q	probably damaging	Het
Trpc4	A	G	3: 54,102,317 (GRCm39)	T72A	possibly damaging	Het
Trrap	G	A	5: 144,733,945 (GRCm39)	A933T	probably benign	Het
Tspoap1	T	A	11: 87,661,315 (GRCm39)	I589N	probably benign	Het
Ttll5	T	A	12: 85,980,170 (GRCm39)	V918E	probably benign	Het
Tut4	T	C	4: 108,384,205 (GRCm39)	Y1091H	probably damaging	Het
Txn2	A	G	15: 77,811,886 (GRCm39)		probably null	Het
Ucn3	T	G	13: 3,991,365 (GRCm39)	T96P	probably benign	Het
Usp36	T	C	11: 118,155,980 (GRCm39)	E764G	possibly damaging	Het
Vmn2r23	A	T	6: 123,681,323 (GRCm39)	H77L	probably benign	Het
Vmn2r57	T	C	7: 41,049,710 (GRCm39)	T680A	probably benign	Het
Vwa3a	T	C	7: 120,394,853 (GRCm39)	I891T	possibly damaging	Het
Zfp764l1	A	G	7: 126,990,695 (GRCm39)	S431P	probably benign	Het
Zhx2	A	G	15: 57,687,039 (GRCm39)	I803V	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
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
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'- GTGAGCTAGCTTGACCTCTTC -3'
(R):5'- TGGCAAAGCTCTGGAAGGTG -3'

Sequencing Primer
(F):5'- TCCTGCTCCTGGACCAAGAAG -3'
(R):5'- TCTGGAAGGTGGCCCCAG -3'

Posted On

2019-06-26