Mutagenetix > Incidental Mutation

Incidental Mutation 'R5943:Dnase1l2'

460446

Institutional Source

Beutler Lab

Gene Symbol

Dnase1l2

Ensembl Gene

ENSMUSG00000024136

Gene Name

deoxyribonuclease 1-like 2

Synonyms

4733401H14Rik

MMRRC Submission

044135-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5943 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24659061-24662075 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24661721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 13 (A13T)

Ref Sequence

ENSEMBL: ENSMUSP00000119453 (fasta)

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

possibly damaging
Transcript: ENSMUST00000088506
AA Change: A13T

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000085862
Gene: ENSMUSG00000024136
AA Change: A13T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119932
AA Change: A13T

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113508
Gene: ENSMUSG00000024136
AA Change: A13T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129401

Predicted Effect

probably damaging
Transcript: ENSMUST00000148820
AA Change: A13T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119453
Gene: ENSMUSG00000024136
AA Change: A13T

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: ENSMUST00000228882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227241

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227293

Predicted Effect

probably benign
Transcript: ENSMUST00000226754

Predicted Effect

probably benign
Transcript: ENSMUST00000226941

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.1%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	C	A	17: 45,828,637 (GRCm39)	Q671K	probably benign	Het
Acaa2	A	G	18: 74,925,453 (GRCm39)	H72R	probably damaging	Het
Acad8	A	G	9: 26,910,740 (GRCm39)	L18P	probably benign	Het
Acap3	T	C	4: 155,983,879 (GRCm39)	V115A	possibly damaging	Het
Adamts9	T	C	6: 92,880,767 (GRCm39)	T503A	probably benign	Het
Adcy1	T	C	11: 7,111,337 (GRCm39)	F876S	probably damaging	Het
Adgrv1	T	C	13: 81,534,985 (GRCm39)	E5760G	probably damaging	Het
Ankrd26	A	T	6: 118,482,707 (GRCm39)	I1631K	probably damaging	Het
Ccdc150	A	G	1: 54,339,526 (GRCm39)	T457A	probably benign	Het
Cd163	T	C	6: 124,306,561 (GRCm39)	*1160R	probably null	Het
Cdc6	T	C	11: 98,811,589 (GRCm39)	S517P	probably damaging	Het
Cenpf	A	T	1: 189,392,166 (GRCm39)	D555E	possibly damaging	Het
Cfap251	A	G	5: 123,424,420 (GRCm39)	T205A	probably benign	Het
Clcn1	T	A	6: 42,269,900 (GRCm39)	I241N	probably damaging	Het
Clrn2	A	T	5: 45,621,061 (GRCm39)	I152F	probably benign	Het
Col4a4	A	G	1: 82,502,737 (GRCm39)	I349T	unknown	Het
Coq8b	T	A	7: 26,933,428 (GRCm39)	F96L	probably damaging	Het
Cp	A	T	3: 20,018,470 (GRCm39)	N58I	probably benign	Het
Dcst1	A	T	3: 89,263,718 (GRCm39)		probably null	Het
Dhrs3	A	T	4: 144,646,546 (GRCm39)	M199L	possibly damaging	Het
Dido1	A	T	2: 180,303,675 (GRCm39)	S1410T	probably benign	Het
Duox1	G	A	2: 122,163,916 (GRCm39)	R861Q	probably benign	Het
Eya2	A	G	2: 165,566,609 (GRCm39)	H220R	probably damaging	Het
Fas	T	G	19: 34,297,987 (GRCm39)		probably null	Het
Fezf1	T	A	6: 23,246,948 (GRCm39)	K295*	probably null	Het
Gldn	T	G	9: 54,245,721 (GRCm39)	I424R	possibly damaging	Het
Gnptab	T	C	10: 88,269,376 (GRCm39)	V693A	probably benign	Het
Gsdma	A	T	11: 98,563,852 (GRCm39)	T269S	probably benign	Het
Hectd4	A	T	5: 121,460,357 (GRCm39)	T2209S	probably benign	Het
Hoxd3	A	G	2: 74,577,173 (GRCm39)	N351S	probably benign	Het
Itpkc	T	A	7: 26,912,404 (GRCm39)	N581I	possibly damaging	Het
Kank3	G	T	17: 34,037,375 (GRCm39)	E226D	probably damaging	Het
Krtap5-1	A	G	7: 141,850,788 (GRCm39)	S7P	unknown	Het
Lrriq3	A	G	3: 154,869,587 (GRCm39)	Y304C	probably damaging	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Mdn1	T	C	4: 32,678,330 (GRCm39)	S653P	probably damaging	Het
Mri1	A	T	8: 84,980,948 (GRCm39)	L194*	probably null	Het
Mtus1	T	C	8: 41,537,302 (GRCm39)	E138G	probably benign	Het
Myo3b	G	A	2: 70,117,285 (GRCm39)	R906Q	probably benign	Het
Nckipsd	C	T	9: 108,689,435 (GRCm39)	P199S	possibly damaging	Het
Or52n5	T	A	7: 104,587,850 (GRCm39)	I39N	possibly damaging	Het
Or9i16	C	T	19: 13,865,116 (GRCm39)	V153I	possibly damaging	Het
Pacsin1	T	C	17: 27,925,045 (GRCm39)	L253P	probably damaging	Het
Pcca	T	A	14: 122,896,188 (GRCm39)	I268N	probably damaging	Het
Pcdhga8	A	G	18: 37,949,565 (GRCm39)	D327G	probably damaging	Het
Pcnx4	A	G	12: 72,626,232 (GRCm39)	H1146R	probably damaging	Het
Pnma8b	T	C	7: 16,680,362 (GRCm39)	S449P	probably benign	Het
Psmb9	T	C	17: 34,403,265 (GRCm39)	E61G	probably damaging	Het
Pxylp1	A	G	9: 96,721,203 (GRCm39)	Y101H	probably damaging	Het
Radil	A	G	5: 142,471,213 (GRCm39)	I1044T	probably damaging	Het
Rnf43	G	A	11: 87,622,561 (GRCm39)	R554H	probably damaging	Het
Sp5	A	T	2: 70,305,659 (GRCm39)	Q17L	probably null	Het
Spmip1	T	A	6: 29,471,908 (GRCm39)	L128Q	possibly damaging	Het
Strn	C	A	17: 78,977,276 (GRCm39)	V211F	probably damaging	Het
Sult3a1	A	G	10: 33,742,637 (GRCm39)	D88G	probably damaging	Het
Trim14	T	C	4: 46,522,136 (GRCm39)	I180M	probably benign	Het
Tsnax	C	A	8: 125,751,278 (GRCm39)	S90*	probably null	Het
Ttn	A	G	2: 76,798,780 (GRCm39)	M498T	probably benign	Het
Vmn1r198	T	A	13: 22,539,367 (GRCm39)	Y195*	probably null	Het
Vmn2r70	T	C	7: 85,215,199 (GRCm39)	T112A	probably benign	Het
Wwc2	T	C	8: 48,443,137 (GRCm39)	N32S	possibly damaging	Het
Yme1l1	G	T	2: 23,058,342 (GRCm39)	R158L	probably damaging	Het
Zc2hc1c	C	A	12: 85,336,483 (GRCm39)	H47N	probably damaging	Het
Zc3h10	C	A	10: 128,381,396 (GRCm39)		probably benign	Het
Zfp825	T	C	13: 74,629,007 (GRCm39)	R170G	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
R2432:Dnase1l2	UTSW	17	24,661,699 (GRCm39)	missense	possibly damaging	0.84
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'- ATCAGCCTAATTGCCCAGAGC -3'
(R):5'- TGTCCCCATACACACTGGAG -3'

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

Posted On

2017-02-28