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

24659061-24662075 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 24659968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

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: ENSMUST00000226941

Predicted Effect

probably benign
Transcript: ENSMUST00000226754

Predicted Effect

probably benign
Transcript: ENSMUST00000228882

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

noncoding transcript
Transcript: ENSMUST00000227241

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227293

Predicted Effect

probably benign
Transcript: ENSMUST00000226654

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
Acap3	T	C	4: 155,987,815 (GRCm39)	F517S	probably damaging	Het
Afap1l1	A	G	18: 61,881,894 (GRCm39)	V267A	probably benign	Het
Asap1	A	G	15: 64,025,683 (GRCm39)		probably benign	Het
Bcl6	T	C	16: 23,793,788 (GRCm39)		probably benign	Het
Ccdc73	C	A	2: 104,782,281 (GRCm39)	H212Q	possibly damaging	Het
Cct5	A	T	15: 31,597,633 (GRCm39)	H85Q	probably damaging	Het
Cfap69	A	C	5: 5,639,206 (GRCm39)	L238R	probably damaging	Het
Chl1	A	T	6: 103,668,628 (GRCm39)	T470S	probably benign	Het
Cnga4	T	C	7: 105,053,932 (GRCm39)	S12P	probably benign	Het
Cyp2c29	C	T	19: 39,275,662 (GRCm39)	T34M	possibly damaging	Het
Cyp2c67	T	C	19: 39,637,329 (GRCm39)	D49G	possibly damaging	Het
Dab2ip	A	G	2: 35,533,909 (GRCm39)	Q45R	probably benign	Het
Ddhd1	A	G	14: 45,858,240 (GRCm39)	V164A	probably damaging	Het
Dnaaf8	A	T	16: 4,795,358 (GRCm39)		noncoding transcript	Het
Dnah7c	A	G	1: 46,671,309 (GRCm39)	Y1566C	probably damaging	Het
Dock2	G	T	11: 34,182,853 (GRCm39)	N1593K	probably benign	Het
Dpp6	G	T	5: 27,914,506 (GRCm39)	M530I	probably benign	Het
Epm2a	T	C	10: 11,332,974 (GRCm39)	V269A	possibly damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Fgf2	A	G	3: 37,403,161 (GRCm39)	S55G	probably benign	Het
Frem3	C	T	8: 81,341,159 (GRCm39)	P1151S	probably damaging	Het
Gm15737	T	C	6: 92,846,481 (GRCm39)		probably benign	Het
Gpi-ps	T	A	8: 5,689,816 (GRCm39)		noncoding transcript	Het
Gvin-ps6	T	C	7: 106,022,902 (GRCm39)		noncoding transcript	Het
Hoxa3	G	A	6: 52,147,267 (GRCm39)		probably benign	Het
Larp7-ps	A	G	4: 92,079,287 (GRCm39)	L178P	probably benign	Het
Macf1	T	C	4: 123,281,188 (GRCm39)	I3770V	probably damaging	Het
Mapk15	G	T	15: 75,865,731 (GRCm39)	R8L	probably benign	Het
Mecom	C	T	3: 30,015,112 (GRCm39)		probably benign	Het
Mknk2	C	T	10: 80,505,496 (GRCm39)	R154H	probably benign	Het
Mrgprb3	A	T	7: 48,293,341 (GRCm39)	V70E	possibly damaging	Het
Mtdh	A	G	15: 34,140,876 (GRCm39)	K570E	possibly damaging	Het
Myo5c	G	T	9: 75,159,798 (GRCm39)		probably benign	Het
Myom2	T	C	8: 15,173,442 (GRCm39)		probably benign	Het
Or52m2	C	T	7: 102,263,656 (GRCm39)	R180Q	probably benign	Het
Or5b124	T	C	19: 13,611,090 (GRCm39)	I205T	probably benign	Het
Or7g25	A	T	9: 19,159,938 (GRCm39)	Y252*	probably null	Het
Pcca	A	T	14: 123,124,513 (GRCm39)	M695L	probably benign	Het
Pcdha2	A	T	18: 37,074,670 (GRCm39)	D767V	probably damaging	Het
Plekhs1	G	A	19: 56,459,189 (GRCm39)	D16N	probably benign	Het
Prr11	T	C	11: 86,994,478 (GRCm39)	N56S	possibly damaging	Het
Rxfp2	A	T	5: 149,966,645 (GRCm39)		probably benign	Het
Sacs	G	T	14: 61,445,307 (GRCm39)	G2451V	probably damaging	Het
Scarb1	G	A	5: 125,371,163 (GRCm39)	A4V	probably damaging	Het
Scart2	G	A	7: 139,828,827 (GRCm39)	C162Y	probably damaging	Het
Sik3	C	A	9: 46,109,447 (GRCm39)	T475K	probably damaging	Het
Slco1b2	A	T	6: 141,594,311 (GRCm39)	I59L	probably benign	Het
Sspo	G	A	6: 48,437,387 (GRCm39)	G1382R	probably damaging	Het
Stx16	C	A	2: 173,934,231 (GRCm39)	P145T	probably benign	Het
Tnrc18	G	A	5: 142,760,974 (GRCm39)	A674V	unknown	Het
Uqcrq	A	G	11: 53,321,476 (GRCm39)	V14A	possibly damaging	Het
Vmn2r79	A	T	7: 86,652,799 (GRCm39)	E497V	probably benign	Het
Vps8	T	A	16: 21,267,115 (GRCm39)	I166K	probably damaging	Het
Vwa8	A	G	14: 79,302,361 (GRCm39)	D1010G	probably benign	Het
Wnk1	T	A	6: 119,921,760 (GRCm39)		probably benign	Het
Zfand3	T	A	17: 30,279,798 (GRCm39)	M29K	probably benign	Het

Other mutations in Dnase1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01718:Dnase1l2	APN	17	24,660,690 (GRCm39)	missense	possibly damaging	0.52
IGL03123:Dnase1l2	APN	17	24,661,226 (GRCm39)	missense	possibly damaging	0.71
R0035:Dnase1l2	UTSW	17	24,660,049 (GRCm39)	missense	probably damaging	0.98
R0035:Dnase1l2	UTSW	17	24,660,049 (GRCm39)	missense	probably damaging	0.98
R0646:Dnase1l2	UTSW	17	24,660,056 (GRCm39)	missense	possibly damaging	0.94
R0743:Dnase1l2	UTSW	17	24,660,854 (GRCm39)	missense	possibly damaging	0.92
R0884:Dnase1l2	UTSW	17	24,660,854 (GRCm39)	missense	possibly damaging	0.92
R1017:Dnase1l2	UTSW	17	24,661,446 (GRCm39)	missense	probably benign	0.03
R1988:Dnase1l2	UTSW	17	24,660,625 (GRCm39)	missense	probably damaging	1.00
R2432:Dnase1l2	UTSW	17	24,661,699 (GRCm39)	missense	possibly damaging	0.84
R5943:Dnase1l2	UTSW	17	24,661,721 (GRCm39)	missense	probably damaging	0.98
R6228:Dnase1l2	UTSW	17	24,661,492 (GRCm39)	unclassified	probably benign
R6353:Dnase1l2	UTSW	17	24,661,219 (GRCm39)	missense	probably damaging	1.00
R7672:Dnase1l2	UTSW	17	24,661,219 (GRCm39)	missense	probably damaging	1.00
R8708:Dnase1l2	UTSW	17	24,661,266 (GRCm39)	missense	probably benign	0.34
R8959:Dnase1l2	UTSW	17	24,661,642 (GRCm39)	missense	probably damaging	1.00
R9765:Dnase1l2	UTSW	17	24,660,049 (GRCm39)	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