Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03052:Dnase1l2'

392202

Institutional Source

Beutler Lab

Gene Symbol

Dnase1l2

Ensembl Gene

ENSMUSG00000024136

Gene Name

deoxyribonuclease 1-like 2

Synonyms

4733401H14Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03052 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

24440081-24443105 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 24440994 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024946] [ENSMUST00000056032] [ENSMUST00000088506] [ENSMUST00000119932] [ENSMUST00000148820] [ENSMUST00000154675] [ENSMUST00000226654] [ENSMUST00000226754] [ENSMUST00000226941]

AlphaFold

Q9D1G0

Predicted Effect

probably benign
Transcript: ENSMUST00000024946

SMART Domains

Protein: ENSMUSP00000024946
Gene: ENSMUSG00000024132

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC
Pfam:ECH_1	39	288	3.2e-96	PFAM
Pfam:ECH_2	44	289	5.1e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056032

SMART Domains

Protein: ENSMUSP00000062344
Gene: ENSMUSG00000024137

Domain	Start	End	E-Value	Type
low complexity region	6	35	N/A	INTRINSIC
ZnF_C2H2	57	82	3.95e1	SMART
low complexity region	84	99	N/A	INTRINSIC
ZnF_C2H2	193	215	1.03e-2	SMART
ZnF_C2H2	221	243	7.37e-4	SMART
ZnF_C2H2	249	269	5.62e0	SMART
low complexity region	295	311	N/A	INTRINSIC
ZnF_C2H2	433	455	5.9e-3	SMART
ZnF_C2H2	461	483	2.4e-3	SMART
ZnF_C2H2	489	511	2.49e-1	SMART
ZnF_C2H2	517	539	1.82e-3	SMART
ZnF_C2H2	545	567	1.56e-2	SMART
ZnF_C2H2	573	593	2.06e1	SMART
low complexity region	599	611	N/A	INTRINSIC
low complexity region	642	661	N/A	INTRINSIC
low complexity region	703	713	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000088506

SMART Domains

Protein: ENSMUSP00000085862
Gene: ENSMUSG00000024136

Domain	Start	End	E-Value	Type
DNaseIc	5	276	4.18e-185	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119932

SMART Domains

Protein: ENSMUSP00000113508
Gene: ENSMUSG00000024136

Domain	Start	End	E-Value	Type
DNaseIc	5	276	4.18e-185	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129401

Predicted Effect

probably benign
Transcript: ENSMUST00000148820

SMART Domains

Protein: ENSMUSP00000119453
Gene: ENSMUSG00000024136

Domain	Start	End	E-Value	Type
Blast:DNaseIc	5	60	2e-33	BLAST
PDB:4AWN\|A	22	60	5e-8	PDB
SCOP:d2dnja_	22	60	3e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153858

Predicted Effect

probably benign
Transcript: ENSMUST00000154675

SMART Domains

Protein: ENSMUSP00000116743
Gene: ENSMUSG00000024136

Domain	Start	End	E-Value	Type
DNaseIc	1	180	4.58e-86	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000226654

Predicted Effect

probably benign
Transcript: ENSMUST00000226754

Predicted Effect

probably benign
Transcript: ENSMUST00000226941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227241

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227293

Predicted Effect

probably benign
Transcript: ENSMUST00000228882

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (53/53)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruption in this gene retain DNA in corneocytes of the hair and some other structures. Mice homozygous for a different knock-out allele exhibit decreased grip strength, decreased body weight, abnormal homeostasis and abnormal skeleton. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451G09Rik	A	T	16: 4,977,494		noncoding transcript	Het
5830411N06Rik	G	A	7: 140,248,914	C162Y	probably damaging	Het
Acap3	T	C	4: 155,903,358	F517S	probably damaging	Het
Afap1l1	A	G	18: 61,748,823	V267A	probably benign	Het
Asap1	A	G	15: 64,153,834		probably benign	Het
Bcl6	T	C	16: 23,975,038		probably benign	Het
Ccdc73	C	A	2: 104,951,936	H212Q	possibly damaging	Het
Cct5	A	T	15: 31,597,487	H85Q	probably damaging	Het
Cfap69	A	C	5: 5,589,206	L238R	probably damaging	Het
Chl1	A	T	6: 103,691,667	T470S	probably benign	Het
Cnga4	T	C	7: 105,404,725	S12P	probably benign	Het
Cyp2c29	C	T	19: 39,287,218	T34M	possibly damaging	Het
Cyp2c67	T	C	19: 39,648,885	D49G	possibly damaging	Het
Dab2ip	A	G	2: 35,643,897	Q45R	probably benign	Het
Ddhd1	A	G	14: 45,620,783	V164A	probably damaging	Het
Dnah7c	A	G	1: 46,632,149	Y1566C	probably damaging	Het
Dock2	G	T	11: 34,232,853	N1593K	probably benign	Het
Dpp6	G	T	5: 27,709,508	M530I	probably benign	Het
Epm2a	T	C	10: 11,457,230	V269A	possibly damaging	Het
Fcna	G	C	2: 25,630,681		probably benign	Het
Fgf2	A	G	3: 37,349,012	S55G	probably benign	Het
Frem3	C	T	8: 80,614,530	P1151S	probably damaging	Het
Gm12666	A	G	4: 92,191,050	L178P	probably benign	Het
Gm15737	T	C	6: 92,869,500		probably benign	Het
Gm1840	T	A	8: 5,639,816		noncoding transcript	Het
Gm4759	T	C	7: 106,423,695		noncoding transcript	Het
Hoxa3	G	A	6: 52,170,287		probably benign	Het
Macf1	T	C	4: 123,387,395	I3770V	probably damaging	Het
Mapk15	G	T	15: 75,993,882	R8L	probably benign	Het
Mecom	C	T	3: 29,960,963		probably benign	Het
Mknk2	C	T	10: 80,669,662	R154H	probably benign	Het
Mrgprb3	A	T	7: 48,643,593	V70E	possibly damaging	Het
Mtdh	A	G	15: 34,140,730	K570E	possibly damaging	Het
Myo5c	G	T	9: 75,252,516		probably benign	Het
Myom2	T	C	8: 15,123,442		probably benign	Het
Olfr1489	T	C	19: 13,633,726	I205T	probably benign	Het
Olfr553	C	T	7: 102,614,449	R180Q	probably benign	Het
Olfr843	A	T	9: 19,248,642	Y252*	probably null	Het
Pcca	A	T	14: 122,887,101	M695L	probably benign	Het
Pcdha2	A	T	18: 36,941,617	D767V	probably damaging	Het
Plekhs1	G	A	19: 56,470,757	D16N	probably benign	Het
Prr11	T	C	11: 87,103,652	N56S	possibly damaging	Het
Rxfp2	A	T	5: 150,043,180		probably benign	Het
Sacs	G	T	14: 61,207,858	G2451V	probably damaging	Het
Scarb1	G	A	5: 125,294,099	A4V	probably damaging	Het
Sik3	C	A	9: 46,198,149	T475K	probably damaging	Het
Slco1b2	A	T	6: 141,648,585	I59L	probably benign	Het
Sspo	G	A	6: 48,460,453	G1382R	probably damaging	Het
Stx16	C	A	2: 174,092,438	P145T	probably benign	Het
Tnrc18	G	A	5: 142,775,219	A674V	unknown	Het
Uqcrq	A	G	11: 53,430,649	V14A	possibly damaging	Het
Vmn2r79	A	T	7: 87,003,591	E497V	probably benign	Het
Vps8	T	A	16: 21,448,365	I166K	probably damaging	Het
Vwa8	A	G	14: 79,064,921	D1010G	probably benign	Het
Wnk1	T	A	6: 119,944,799		probably benign	Het
Zfand3	T	A	17: 30,060,824	M29K	probably benign	Het

Other mutations in Dnase1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01718:Dnase1l2	APN	17	24441716	missense	possibly damaging	0.52
IGL03123:Dnase1l2	APN	17	24442252	missense	possibly damaging	0.71
R0035:Dnase1l2	UTSW	17	24441075	missense	probably damaging	0.98
R0035:Dnase1l2	UTSW	17	24441075	missense	probably damaging	0.98
R0646:Dnase1l2	UTSW	17	24441082	missense	possibly damaging	0.94
R0743:Dnase1l2	UTSW	17	24441880	missense	possibly damaging	0.92
R0884:Dnase1l2	UTSW	17	24441880	missense	possibly damaging	0.92
R1017:Dnase1l2	UTSW	17	24442472	missense	probably benign	0.03
R1988:Dnase1l2	UTSW	17	24441651	missense	probably damaging	1.00
R2432:Dnase1l2	UTSW	17	24442725	missense	possibly damaging	0.84
R5943:Dnase1l2	UTSW	17	24442747	missense	probably damaging	0.98
R6228:Dnase1l2	UTSW	17	24442518	unclassified	probably benign
R6353:Dnase1l2	UTSW	17	24442245	missense	probably damaging	1.00
R7672:Dnase1l2	UTSW	17	24442245	missense	probably damaging	1.00
R8708:Dnase1l2	UTSW	17	24442292	missense	probably benign	0.34
R8959:Dnase1l2	UTSW	17	24442668	missense	probably damaging	1.00
R9765:Dnase1l2	UTSW	17	24441075	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGTACAGAGGTCTCAGAAAGC -3'
(R):5'- CAGCTAGAGAAAACGCTGCC -3'

Sequencing Primer
(F):5'- GCATGCAGCTATGTGCCTG -3'
(R):5'- AGAAAACGCTGCCCTGCTG -3'

Posted On

2016-06-09