Mutagenetix > Incidental Mutation

Incidental Mutation 'R0743:Dnase1l2'

70807

Institutional Source

Beutler Lab

Gene Symbol

Dnase1l2

Ensembl Gene

ENSMUSG00000024136

Gene Name

deoxyribonuclease 1-like 2

Synonyms

4733401H14Rik

MMRRC Submission

038924-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0743 (G1)

Quality Score

198

Status

Not validated

Chromosome

Chromosomal Location

24659061-24662075 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24660854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 170 (V170A)

Ref Sequence

ENSEMBL: ENSMUSP00000113508 (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: V170A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000085862
Gene: ENSMUSG00000024136
AA Change: V170A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119932
AA Change: V170A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113508
Gene: ENSMUSG00000024136
AA Change: V170A

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

possibly damaging
Transcript: ENSMUST00000154675
AA Change: V98A

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116743
Gene: ENSMUSG00000024136
AA Change: V98A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227241

Predicted Effect

probably benign
Transcript: ENSMUST00000226654

Predicted Effect

probably benign
Transcript: ENSMUST00000226754

Predicted Effect

probably benign
Transcript: ENSMUST00000228882

Predicted Effect

probably benign
Transcript: ENSMUST00000226941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227293

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.7%
20x: 92.7%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,790,700 (GRCm39)	I844N	possibly damaging	Het
Bend7	A	T	2: 4,749,055 (GRCm39)	K57N	probably damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cfap91	A	G	16: 38,155,996 (GRCm39)	F76L	probably damaging	Het
Csmd2	A	T	4: 128,007,469 (GRCm39)	T149S	probably benign	Het
Cyp2a12	T	C	7: 26,731,967 (GRCm39)	I236T	probably benign	Het
Dennd2b	A	G	7: 109,156,552 (GRCm39)	L66P	probably damaging	Het
Dnm2	T	A	9: 21,411,561 (GRCm39)	Y597N	probably damaging	Het
Epsti1	A	T	14: 78,168,715 (GRCm39)	R117S	probably damaging	Het
Gabarapl2	A	T	8: 112,669,137 (GRCm39)	I32F	probably damaging	Het
Glrb	T	A	3: 80,786,987 (GRCm39)	I59F	probably damaging	Het
Gosr1	A	G	11: 76,620,972 (GRCm39)	I239T	probably benign	Het
Kif5b	G	T	18: 6,209,192 (GRCm39)	R857S	probably damaging	Het
Kmt5a	C	A	5: 124,585,282 (GRCm39)	N44K	probably damaging	Het
Ksr1	A	T	11: 78,912,329 (GRCm39)	H675Q	possibly damaging	Het
Mep1b	A	G	18: 21,213,515 (GRCm39)	D68G	possibly damaging	Het
Nebl	A	C	2: 17,415,929 (GRCm39)	S327A	probably benign	Het
Nfat5	G	A	8: 108,094,698 (GRCm39)	E962K	probably damaging	Het
Nfatc4	A	C	14: 56,064,101 (GRCm39)	D126A	probably damaging	Het
Nmt2	A	T	2: 3,315,822 (GRCm39)	R271*	probably null	Het
Nol7	G	A	13: 43,554,091 (GRCm39)	V133I	probably benign	Het
Npepps	A	G	11: 97,096,884 (GRCm39)		probably benign	Het
Nphp3	GCATCATCATCATCATC	GCATCATCATCATC	9: 103,899,967 (GRCm39)		probably benign	Het
Or1e1c	A	T	11: 73,265,715 (GRCm39)	I47F	probably benign	Het
Or51ag1	C	T	7: 103,156,069 (GRCm39)	W28*	probably null	Het
Or6c66	T	A	10: 129,461,712 (GRCm39)	T73S	probably benign	Het
Or8h10	G	A	2: 86,808,843 (GRCm39)	T99I	probably benign	Het
Ovgp1	T	A	3: 105,882,248 (GRCm39)	L37H	probably damaging	Het
Padi3	G	T	4: 140,513,740 (GRCm39)	A646D	probably benign	Het
Pamr1	A	G	2: 102,440,252 (GRCm39)	E142G	probably damaging	Het
Papolg	A	T	11: 23,820,818 (GRCm39)		probably null	Het
Pate8	T	C	9: 36,492,597 (GRCm39)	S103G	probably benign	Het
Pfkl	C	T	10: 77,831,077 (GRCm39)		probably null	Het
Plrg1	T	C	3: 82,967,224 (GRCm39)	S132P	probably benign	Het
Pramel23	A	T	4: 143,425,134 (GRCm39)	I103N	probably damaging	Het
Prr14l	C	A	5: 32,988,538 (GRCm39)	C319F	possibly damaging	Het
Prtn3	T	A	10: 79,715,511 (GRCm39)	M1K	probably null	Het
Ptpn22	T	C	3: 103,809,487 (GRCm39)	F700S	probably damaging	Het
Ptprz1	C	T	6: 23,044,366 (GRCm39)	Q1273*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,569,415 (GRCm39)	D4963G	probably damaging	Het
Sec16a	G	A	2: 26,309,734 (GRCm39)	L2091F	possibly damaging	Het
Senp6	C	T	9: 80,000,871 (GRCm39)	R27C	probably damaging	Het
Shcbp1	T	A	8: 4,814,906 (GRCm39)	M191L	probably benign	Het
Sirt4	T	C	5: 115,621,014 (GRCm39)	K53E	probably benign	Het
Slc10a2	A	G	8: 5,139,132 (GRCm39)	S271P	probably damaging	Het
Slc35b2	T	A	17: 45,877,751 (GRCm39)	F293I	probably damaging	Het
Slc38a10	C	T	11: 120,031,469 (GRCm39)	V103M	probably damaging	Het
Stab2	T	A	10: 86,723,759 (GRCm39)	I1479F	probably damaging	Het
Synpo2	A	G	3: 122,906,355 (GRCm39)	V987A	probably benign	Het
Syt9	A	G	7: 107,035,768 (GRCm39)	I262V	probably damaging	Het
Taf2	GCTTCTTCTTCTTCTTCTT	GCTTCTTCTTCTTCTT	15: 54,879,857 (GRCm39)		probably benign	Het
Tmem39a	A	T	16: 38,405,764 (GRCm39)	I200F	probably damaging	Het
Ttn	G	A	2: 76,579,613 (GRCm39)	T23760M	probably damaging	Het
Uqcrc1	C	T	9: 108,773,773 (GRCm39)	Q22*	probably null	Het
Wdtc1	A	G	4: 133,027,972 (GRCm39)	W377R	probably damaging	Het
Zfp454	A	G	11: 50,764,764 (GRCm39)	S223P	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
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'- TGCAATCGGCATTAAAGTCACCCAG -3'
(R):5'- TGAGCACGTACCAGTATCCAGACC -3'

Sequencing Primer
(F):5'- CCCAGAAACAGCATGTCCTG -3'
(R):5'- ACCCAGAGGACGCTTTCAG -3'

Posted On

2013-09-30