Mutagenetix > Incidental Mutation

Incidental Mutation 'R5183:Dnase2a'

397677

Institutional Source

Beutler Lab

Gene Symbol

Dnase2a

Ensembl Gene

ENSMUSG00000003812

Gene Name

deoxyribonuclease II alpha

Synonyms

MMRRC Submission

042762-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5183 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85635384-85638332 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 85636207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117198 (fasta)

Gene Model

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

AlphaFold

P56542

Predicted Effect

silent
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

silent
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

unknown
Transcript: ENSMUST00000145292
AA Change: L109P

SMART Domains

Protein: ENSMUSP00000138203
Gene: ENSMUSG00000003812
AA Change: L109P

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: ENSMUST00000148573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155942

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153000

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (73/74)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,887,171 (GRCm39)	D8E	probably damaging	Het
Abca3	T	G	17: 24,593,427 (GRCm39)	S275A	probably benign	Het
Adk	A	G	14: 21,290,599 (GRCm39)	N155S	probably damaging	Het
Aqp11	T	C	7: 97,386,963 (GRCm39)	T78A	probably benign	Het
Arhgef40	T	C	14: 52,241,556 (GRCm39)	V1455A	probably damaging	Het
Asxl3	C	G	18: 22,658,356 (GRCm39)	A2122G	possibly damaging	Het
Cdan1	T	A	2: 120,560,061 (GRCm39)	I368F	probably damaging	Het
Cdc42bpg	A	G	19: 6,371,835 (GRCm39)		probably benign	Het
Celsr3	A	G	9: 108,714,759 (GRCm39)	D2013G	probably damaging	Het
Cep152	A	G	2: 125,408,558 (GRCm39)	V1332A	probably damaging	Het
Cftr	T	C	6: 18,299,832 (GRCm39)	S1172P	probably damaging	Het
Commd2	A	T	3: 57,554,235 (GRCm39)	D155E	probably benign	Het
Coq7	T	A	7: 118,127,490 (GRCm39)		probably benign	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dock6	C	T	9: 21,752,899 (GRCm39)	V305I	probably benign	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Fasn	T	C	11: 120,699,708 (GRCm39)	Q2288R	probably benign	Het
Fat3	T	A	9: 15,871,609 (GRCm39)	N3594I	probably damaging	Het
Galnt10	T	C	11: 57,660,414 (GRCm39)	M284T	probably damaging	Het
Gatm	A	T	2: 122,425,984 (GRCm39)	F422L	probably benign	Het
Glrp1	A	T	1: 88,437,574 (GRCm39)	I12N	unknown	Het
Gm5455	T	A	13: 110,441,962 (GRCm39)		noncoding transcript	Het
Gpam	C	T	19: 55,071,659 (GRCm39)	E361K	probably damaging	Het
Gps2	A	G	11: 69,806,023 (GRCm39)	T126A	probably benign	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gsg1	T	A	6: 135,218,368 (GRCm39)	Q176L	probably damaging	Het
Htra1	C	T	7: 130,585,446 (GRCm39)	A412V	possibly damaging	Het
Icosl	C	T	10: 77,905,319 (GRCm39)		probably benign	Het
Iqgap1	T	C	7: 80,372,813 (GRCm39)	T1509A	probably damaging	Het
Irag2	A	G	6: 145,083,946 (GRCm39)	E37G	probably benign	Het
Itgad	T	C	7: 127,797,395 (GRCm39)		probably null	Het
Kdm5a	C	A	6: 120,406,977 (GRCm39)		probably benign	Het
Kidins220	T	C	12: 25,101,125 (GRCm39)	L1017S	probably benign	Het
Lrrc37	T	C	11: 103,433,947 (GRCm39)	Y898C	probably damaging	Het
Man2b1	T	A	8: 85,822,413 (GRCm39)	S804R	probably damaging	Het
Miip	A	T	4: 147,947,526 (GRCm39)	F211L	probably damaging	Het
Moxd1	T	G	10: 24,155,445 (GRCm39)		probably null	Het
Moxd1	T	G	10: 24,163,034 (GRCm39)	Y499D	probably damaging	Het
Mrpl45	T	C	11: 97,207,577 (GRCm39)	I24T	probably benign	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Mthfr	T	A	4: 148,135,817 (GRCm39)		probably null	Het
Muc5b	T	A	7: 141,404,547 (GRCm39)	D827E	unknown	Het
Myo1g	G	C	11: 6,458,243 (GRCm39)	L866V	probably damaging	Het
Myo3a	A	T	2: 22,468,170 (GRCm39)	M475L	probably benign	Het
Ncoa2	A	C	1: 13,244,590 (GRCm39)	L703V	probably damaging	Het
Ncoa4-ps	A	C	12: 119,225,023 (GRCm39)		noncoding transcript	Het
Nme6	T	A	9: 109,670,557 (GRCm39)	Y69*	probably null	Het
Nwd1	T	A	8: 73,397,714 (GRCm39)	M651K	probably benign	Het
Or4k15c	A	C	14: 50,322,003 (GRCm39)	I45S	probably damaging	Het
Orc2	A	T	1: 58,513,977 (GRCm39)	S298R	possibly damaging	Het
Oscp1	A	T	4: 125,981,522 (GRCm39)	E328V	probably damaging	Het
Pan2	T	C	10: 128,153,838 (GRCm39)	V1003A	probably damaging	Het
Pik3r4	T	C	9: 105,559,507 (GRCm39)	V1200A	possibly damaging	Het
Prl	T	C	13: 27,241,579 (GRCm39)		probably benign	Het
Ptprk	T	C	10: 28,351,232 (GRCm39)	V575A	probably benign	Het
Rflna	A	T	5: 125,088,469 (GRCm39)	S139C	probably damaging	Het
Robo1	T	C	16: 72,539,038 (GRCm39)	F27S	probably benign	Het
Secisbp2	T	C	13: 51,819,460 (GRCm39)	S347P	probably benign	Het
Shmt1	A	G	11: 60,688,308 (GRCm39)		probably benign	Het
Slc27a3	A	G	3: 90,296,477 (GRCm39)		probably null	Het
Slc6a5	T	C	7: 49,585,957 (GRCm39)	V425A	probably damaging	Het
Slc8a3	A	G	12: 81,361,265 (GRCm39)	V518A	possibly damaging	Het
Slco1a4	A	T	6: 141,785,357 (GRCm39)	Y78N	probably damaging	Het
Stt3b	A	T	9: 115,095,211 (GRCm39)	H273Q	probably damaging	Het
Tle6	T	A	10: 81,428,635 (GRCm39)	N431I	probably damaging	Het
Trim34b	C	A	7: 103,979,118 (GRCm39)	Q122K	possibly damaging	Het
Trio	C	A	15: 27,902,686 (GRCm39)	R258S	probably benign	Het
Ttc7	A	T	17: 87,600,306 (GRCm39)	D23V	probably damaging	Het
Ttn	A	T	2: 76,810,525 (GRCm39)	M1K	probably null	Het
Ufsp2	T	C	8: 46,447,126 (GRCm39)	V391A	probably benign	Het
Vps13c	T	C	9: 67,815,334 (GRCm39)	L990S	probably damaging	Het
Zfp108	G	T	7: 23,960,163 (GRCm39)	K251N	probably benign	Het
Zfp618	G	A	4: 63,017,519 (GRCm39)	M234I	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
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'- TACTAACCTTTGGCCTGATGAAG -3'
(R):5'- TGAGCGAAGAAGCCTTCCAG -3'

Sequencing Primer
(F):5'- ATGAAGGGTGGGGATTTGCC -3'
(R):5'- TAGCTGCTTGCCTAGAAGAC -3'

Posted On

2016-07-06