Mutagenetix > Incidental Mutation

Incidental Mutation 'R4922:Dnase2a'

378699

Institutional Source

Beutler Lab

Gene Symbol

Dnase2a

Ensembl Gene

ENSMUSG00000003812

Gene Name

deoxyribonuclease II alpha

Synonyms

MMRRC Submission

042524-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4922 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85635384-85638332 bp(+) (GRCm39)

Type of Mutation

splice site (3705 bp from exon)

DNA Base Change (assembly)

A to G at 85635625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000064366 (fasta)

Gene Model

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

AlphaFold

P56542

Predicted Effect

probably damaging
Transcript: ENSMUST00000003910
AA Change: Y36C

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

SMART Domains

Protein: ENSMUSP00000003910
Gene: ENSMUSG00000003812
AA Change: Y36C

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 null
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 damaging
Transcript: ENSMUST00000109744
AA Change: Y15C

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

SMART Domains

Protein: ENSMUSP00000105366
Gene: ENSMUSG00000003812
AA Change: Y15C

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 damaging
Transcript: ENSMUST00000134569
AA Change: Y36C

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

SMART Domains

Protein: ENSMUSP00000117198
Gene: ENSMUSG00000003812
AA Change: Y36C

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 damaging
Transcript: ENSMUST00000145292
AA Change: Y36C

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

SMART Domains

Protein: ENSMUSP00000138203
Gene: ENSMUSG00000003812
AA Change: Y36C

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: ENSMUST00000155942

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135219

Meta Mutation Damage Score

0.8071

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (76/78)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	G	T	4: 129,901,645 (GRCm39)	C423F	probably damaging	Het
Akap11	A	T	14: 78,750,220 (GRCm39)	Y722*	probably null	Het
Albfm1	A	G	5: 90,727,570 (GRCm39)	H396R	possibly damaging	Het
Anxa3	A	T	5: 96,968,288 (GRCm39)	I114F	probably damaging	Het
Arfgef3	T	A	10: 18,467,934 (GRCm39)	R1755S	probably damaging	Het
Atf7ip	A	T	6: 136,537,039 (GRCm39)	T91S	possibly damaging	Het
Bcl2	C	A	1: 106,640,376 (GRCm39)	A79S	probably benign	Het
Bltp1	T	A	3: 37,041,314 (GRCm39)	I2564K	probably damaging	Het
Bmerb1	A	G	16: 13,804,683 (GRCm39)	H10R	possibly damaging	Het
Bmp10	C	T	6: 87,410,557 (GRCm39)	P117S	probably benign	Het
Bmpr2	A	G	1: 59,906,583 (GRCm39)	T559A	probably benign	Het
Cd200r1	A	T	16: 44,610,039 (GRCm39)	Y86F	probably damaging	Het
Cemip	T	A	7: 83,596,308 (GRCm39)		probably benign	Het
Cfap251	T	C	5: 123,394,116 (GRCm39)	V335A	probably benign	Het
Cfap52	A	G	11: 67,822,548 (GRCm39)		probably null	Het
Chml	T	C	1: 175,514,712 (GRCm39)	H60R	possibly damaging	Het
Cic	TCCCCC	TCCCCCCCC	7: 24,991,095 (GRCm39)		probably benign	Het
Clec12a	A	G	6: 129,336,441 (GRCm39)	Y201C	probably damaging	Het
Col15a1	T	C	4: 47,258,719 (GRCm39)	V370A	probably benign	Het
Cpsf3	T	C	12: 21,351,538 (GRCm39)	I353T	probably damaging	Het
Csf2rb	T	A	15: 78,230,667 (GRCm39)	V470E	probably benign	Het
Cyp4a10	C	A	4: 115,378,291 (GRCm39)	Q126K	probably benign	Het
Dennd1b	T	C	1: 139,013,652 (GRCm39)	S249P	probably damaging	Het
Dpp10	T	C	1: 123,305,882 (GRCm39)	N490S	probably benign	Het
Drgx	A	T	14: 32,330,363 (GRCm39)	N160I	probably damaging	Het
Enc1	C	T	13: 97,382,243 (GRCm39)	A251V	probably benign	Het
Fancd2	T	C	6: 113,562,434 (GRCm39)	V1258A	probably benign	Het
Fancm	G	A	12: 65,153,666 (GRCm39)		probably null	Het
Fbxo16	C	T	14: 65,536,657 (GRCm39)	T177I	probably benign	Het
Gm1965	T	C	6: 89,123,525 (GRCm39)		noncoding transcript	Het
Hal	A	T	10: 93,339,401 (GRCm39)	M497L	probably damaging	Het
Hectd4	T	C	5: 121,497,378 (GRCm39)	L3936S	possibly damaging	Het
Hs3st4	G	T	7: 123,996,410 (GRCm39)	G359W	probably damaging	Het
Il6st	C	T	13: 112,639,399 (GRCm39)	P608L	probably damaging	Het
Kctd18	A	C	1: 58,004,707 (GRCm39)		probably benign	Het
Kntc1	T	A	5: 123,940,309 (GRCm39)	S1636T	probably damaging	Het
Lrrn1	A	T	6: 107,545,311 (GRCm39)	S370C	probably damaging	Het
Mtcl1	A	C	17: 66,655,474 (GRCm39)	C968G	probably benign	Het
Mylip	G	A	13: 45,562,238 (GRCm39)	A347T	probably damaging	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Ncoa4-ps	A	G	12: 119,226,252 (GRCm39)		noncoding transcript	Het
Neu4	T	A	1: 93,950,200 (GRCm39)	V53E	probably damaging	Het
Nxpe3	T	C	16: 55,680,687 (GRCm39)	I302V	probably benign	Het
Or11i1	A	T	3: 106,729,576 (GRCm39)	C100S	probably damaging	Het
Or4c15b	A	T	2: 89,112,811 (GRCm39)	L243Q	possibly damaging	Het
Otos	T	C	1: 92,572,090 (GRCm39)	T79A	probably damaging	Het
Pde4a	T	C	9: 21,122,009 (GRCm39)	I578T	probably damaging	Het
Pramel17	T	A	4: 101,692,729 (GRCm39)	M424L	probably benign	Het
Prex2	C	T	1: 11,240,164 (GRCm39)	P927S	probably damaging	Het
Prune2	A	T	19: 17,100,116 (GRCm39)	K1873N	probably benign	Het
Ptk7	C	A	17: 46,887,417 (GRCm39)		probably null	Het
Reln	T	A	5: 22,200,585 (GRCm39)		probably null	Het
Rgl2	A	G	17: 34,151,749 (GRCm39)		probably benign	Het
Rnf145	T	A	11: 44,448,063 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,724,849 (GRCm39)	E2488G	probably damaging	Het
Sgo2b	A	T	8: 64,379,664 (GRCm39)	M1056K	possibly damaging	Het
Snapc4	A	G	2: 26,259,245 (GRCm39)	V635A	probably benign	Het
Snx19	T	A	9: 30,348,763 (GRCm39)	Y101N	probably benign	Het
Sorl1	C	A	9: 41,925,746 (GRCm39)		probably null	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Speer4a2	A	T	5: 26,289,791 (GRCm39)	I212N	probably damaging	Het
Tmem30b	G	A	12: 73,592,488 (GRCm39)	P209L	probably damaging	Het
Trbv12-2	G	T	6: 41,096,081 (GRCm39)	C52F	probably damaging	Het
Tsc2	T	A	17: 24,819,343 (GRCm39)	D1304V	probably benign	Het
Ugt2b36	T	C	5: 87,214,183 (GRCm39)	Y487C	probably damaging	Het
Vmn1r10	T	A	6: 57,090,811 (GRCm39)	N134K	probably damaging	Het
Wdr27	C	A	17: 15,141,016 (GRCm39)		probably null	Het
Wdr75	T	C	1: 45,855,638 (GRCm39)	F430L	probably damaging	Het
Zfp629	A	G	7: 127,211,299 (GRCm39)	I170T	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
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'- TAGAGTCCATTGCTGTCGC -3'
(R):5'- GTCACCTGGCTGGAGTTCTTTC -3'

Sequencing Primer
(F):5'- AACACTGAGATCGCTGCTG -3'
(R):5'- TTCGGTACAATGGCTGCAAGC -3'

Posted On

2016-04-15