Mutagenetix > Incidental Mutation

Incidental Mutation 'R2432:Dnase1l2'

250472

Institutional Source

Beutler Lab

Gene Symbol

Dnase1l2

Ensembl Gene

ENSMUSG00000024136

Gene Name

deoxyribonuclease 1-like 2

Synonyms

4733401H14Rik

MMRRC Submission

040393-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24659061-24662075 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24661699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 20 (T20I)

Ref Sequence

ENSEMBL: ENSMUSP00000119453 (fasta)

Gene Model

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

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
AA Change: T20I

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000085862
Gene: ENSMUSG00000024136
AA Change: T20I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119932
AA Change: T20I

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113508
Gene: ENSMUSG00000024136
AA Change: T20I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129401

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148820
AA Change: T20I

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119453
Gene: ENSMUSG00000024136
AA Change: T20I

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

noncoding transcript
Transcript: ENSMUST00000227293

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

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,401,333 (GRCm39)		probably benign	Het
Adamts6	A	T	13: 104,563,485 (GRCm39)	Y659F	probably benign	Het
Adamts9	C	A	6: 92,834,881 (GRCm39)	G750W	probably damaging	Het
Adgrv1	GA	GAA	13: 81,688,251 (GRCm39)		probably null	Het
Aspscr1	A	G	11: 120,593,392 (GRCm39)		probably benign	Het
Calr3	A	G	8: 73,192,270 (GRCm39)		probably benign	Het
Cpt2	A	T	4: 107,761,723 (GRCm39)	Y126*	probably null	Het
Cyp2d34	A	G	15: 82,503,212 (GRCm39)	L94P	probably damaging	Het
Def6	A	T	17: 28,447,043 (GRCm39)	D558V	probably benign	Het
Eif5b	A	G	1: 38,058,423 (GRCm39)	K242E	unknown	Het
Golim4	T	C	3: 75,799,249 (GRCm39)	N478S	possibly damaging	Het
Helb	A	T	10: 119,941,442 (GRCm39)	D415E	probably benign	Het
Ifna12	T	A	4: 88,521,590 (GRCm39)		probably benign	Het
Jhy	T	A	9: 40,872,182 (GRCm39)	H109L	probably benign	Het
Krt87	A	T	15: 101,386,037 (GRCm39)	Y241*	probably null	Het
Macf1	G	T	4: 123,577,789 (GRCm39)	A65E	probably damaging	Het
Mug2	C	A	6: 122,061,335 (GRCm39)	N1418K	possibly damaging	Het
Myo1f	A	G	17: 33,794,823 (GRCm39)	D21G	probably damaging	Het
Myo5a	T	A	9: 75,120,155 (GRCm39)	I1651N	possibly damaging	Het
Notch3	A	T	17: 32,372,778 (GRCm39)	C598S	probably damaging	Het
Npat	A	T	9: 53,469,435 (GRCm39)	H307L	probably damaging	Het
Nr1h2	T	C	7: 44,200,791 (GRCm39)	Q279R	possibly damaging	Het
Or4k52	T	C	2: 111,611,016 (GRCm39)	V117A	probably benign	Het
Or6c6c	A	G	10: 129,540,794 (GRCm39)	T16A	possibly damaging	Het
Pcdhb16	A	T	18: 37,612,983 (GRCm39)	N648Y	probably damaging	Het
Pdzrn3	G	T	6: 101,127,752 (GRCm39)	S971R	probably damaging	Het
Plch2	A	G	4: 155,070,621 (GRCm39)	*494Q	probably null	Het
Plekhg4	T	A	8: 106,108,468 (GRCm39)	D1170E	probably benign	Het
Plekhm3	A	G	1: 64,977,015 (GRCm39)	S152P	probably damaging	Het
Ppargc1b	G	A	18: 61,440,870 (GRCm39)	P683S	possibly damaging	Het
Prdm12	T	G	2: 31,541,864 (GRCm39)	M191R	probably benign	Het
Prdm14	T	C	1: 13,195,857 (GRCm39)	D68G	probably benign	Het
Prp2	C	T	6: 132,576,874 (GRCm39)	P54S	unknown	Het
Prpf4b	A	G	13: 35,067,324 (GRCm39)		probably benign	Het
Ptprk	T	A	10: 28,468,840 (GRCm39)	V1408E	probably damaging	Het
Rap1gds1	A	G	3: 138,662,011 (GRCm39)	M415T	probably damaging	Het
Rps6ka5	A	G	12: 100,520,664 (GRCm39)	F621S	probably damaging	Het
Rrm1	T	A	7: 102,092,279 (GRCm39)	D35E	probably benign	Het
Rxfp3	T	C	15: 11,036,226 (GRCm39)	H382R	probably damaging	Het
Slc11a1	A	G	1: 74,422,910 (GRCm39)		probably benign	Het
Slc25a13	A	T	6: 6,114,017 (GRCm39)	M285K	probably benign	Het
Slc30a3	T	C	5: 31,246,038 (GRCm39)	S231G	probably damaging	Het
Slc44a2	A	T	9: 21,256,130 (GRCm39)	I274F	probably damaging	Het
Tas2r119	A	G	15: 32,178,165 (GRCm39)	I244V	possibly damaging	Het
Tenm2	C	A	11: 35,918,018 (GRCm39)	R1914L	probably damaging	Het
Tfdp2	T	C	9: 96,192,643 (GRCm39)	M242T	probably damaging	Het
Tmprss6	A	G	15: 78,349,304 (GRCm39)		probably benign	Het
Ttc6	C	T	12: 57,668,821 (GRCm39)	P421L	possibly damaging	Het
Usp16	T	A	16: 87,263,246 (GRCm39)		probably null	Het
Usp40	T	C	1: 87,909,804 (GRCm39)	E550G	probably benign	Het
Vmn2r28	T	C	7: 5,491,701 (GRCm39)	Y182C	probably damaging	Het
Zfp382	A	G	7: 29,833,174 (GRCm39)	D275G	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
IGL03052:Dnase1l2	UTSW	17	24,659,968 (GRCm39)	unclassified	probably benign
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
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'- TCAGCCTAATTGCCCAGAGC -3'
(R):5'- TACACACTGGAGAAACACGG -3'

Sequencing Primer
(F):5'- CTAATTGCCCAGAGCCTAGC -3'
(R):5'- ACGGGAGTGTGTCGGGC -3'

Posted On

2014-11-12