Mutagenetix > Incidental Mutation

Incidental Mutation 'R5296:Dnase1l1'

405447

Institutional Source

Beutler Lab

Gene Symbol

Dnase1l1

Ensembl Gene

ENSMUSG00000019088

Gene Name

deoxyribonuclease 1-like 1

Synonyms

Dnase1ll, G4.8, Dnl1ll, 2310005K03Rik

MMRRC Submission

042879-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R5296 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

74273217-74282337 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 74277038 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008826] [ENSMUST00000019232] [ENSMUST00000074085] [ENSMUST00000075821] [ENSMUST00000114189] [ENSMUST00000119361] [ENSMUST00000151702] [ENSMUST00000135690]

AlphaFold

Q9D7J6

Predicted Effect

probably benign
Transcript: ENSMUST00000008826

SMART Domains

Protein: ENSMUSP00000008826
Gene: ENSMUSG00000008682

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L16	5	167	1.1e-34	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000019232

SMART Domains

Protein: ENSMUSP00000019232
Gene: ENSMUSG00000019088

Domain	Start	End	E-Value	Type
DNaseIc	21	289	3.93e-149	SMART
low complexity region	301	313	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000074085

SMART Domains

Protein: ENSMUSP00000082055
Gene: ENSMUSG00000008682

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L16	5	167	1.1e-34	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000075821

SMART Domains

Protein: ENSMUSP00000075218
Gene: ENSMUSG00000019088

Domain	Start	End	E-Value	Type
DNaseIc	21	289	3.93e-149	SMART
low complexity region	301	313	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083047

Predicted Effect

probably null
Transcript: ENSMUST00000114189

SMART Domains

Protein: ENSMUSP00000109827
Gene: ENSMUSG00000019088

Domain	Start	End	E-Value	Type
Blast:DNaseIc	21	70	5e-22	BLAST
SCOP:d2dnja_	39	79	2e-4	SMART
low complexity region	91	103	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000119361

SMART Domains

Protein: ENSMUSP00000113515
Gene: ENSMUSG00000019088

Domain	Start	End	E-Value	Type
Blast:DNaseIc	21	64	2e-22	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125775

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128763

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135012

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184075

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144434

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149171

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138954

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142142

Predicted Effect

probably benign
Transcript: ENSMUST00000151702

SMART Domains

Protein: ENSMUSP00000115919
Gene: ENSMUSG00000008682

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L16	5	167	1.5e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135690

SMART Domains

Protein: ENSMUSP00000119500
Gene: ENSMUSG00000008682

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L16	5	150	1.2e-20	PFAM

Meta Mutation Damage Score

0.9711

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.9%
20x: 96.6%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a deoxyribonuclease protein that shows high sequence similarity to DNase I. The encoded protein is localized to the endoplasmic reticulum and modified by N-linked glycosylation. Alternate transcriptional splice variants encoding the same protein have been observed. [provided by RefSeq, Jan 2015]
PHENOTYPE: Female mice homozygous for an inactivating mutation of this gene exhibit poor motor coordination on the rotarod even on days 4 and 5 of a 5-day test. [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
Apobr	A	C	7: 126,588,024	D89A	probably damaging	Het
Bhlhe41	C	T	6: 145,862,968		probably benign	Het
Cacna1s	G	A	1: 136,095,785	V674M	probably benign	Het
Cavin2	T	C	1: 51,289,870		probably null	Het
Cd300lb	T	C	11: 114,924,937	S106G	possibly damaging	Het
Ceacam15	A	G	7: 16,673,196	V132A	probably benign	Het
Ddi2	G	T	4: 141,684,765	Q279K	probably benign	Het
Dnah11	A	G	12: 117,883,416	V4304A	probably damaging	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Epsti1	T	A	14: 77,904,650	H55Q	probably benign	Het
Flad1	T	C	3: 89,411,196	T17A	probably damaging	Het
Fzd2	C	T	11: 102,606,155	T475M	probably damaging	Het
Gemin5	C	A	11: 58,130,061	W1099L	probably damaging	Het
Gm8979	A	T	7: 106,081,848		noncoding transcript	Het
Gm9892	T	C	8: 52,196,929		noncoding transcript	Het
Gmeb2	A	G	2: 181,255,986		probably benign	Het
Grip1	A	G	10: 119,929,928	E55G	probably damaging	Het
Hltf	T	C	3: 20,108,112	S825P	probably damaging	Het
Kcnh3	A	T	15: 99,241,939	Q902L	probably null	Het
Kcnt2	C	T	1: 140,609,615	P1037L	probably damaging	Het
Klhl18	G	C	9: 110,436,127	N335K	possibly damaging	Het
Lama5	A	C	2: 180,193,801	L1253R	probably damaging	Het
Lancl2	T	G	6: 57,724,582	S230A	probably benign	Het
Lmcd1	A	G	6: 112,315,588	M134V	probably damaging	Het
Lrrc23	C	A	6: 124,774,482	A205S	probably damaging	Het
Mfsd13b	T	A	7: 120,991,738	I234N	probably damaging	Het
Mroh3	A	G	1: 136,196,323	S386P	probably damaging	Het
Mylk3	A	C	8: 85,355,431	F313V	possibly damaging	Het
Myo9b	A	T	8: 71,333,388	Q643L	possibly damaging	Het
Nacad	T	C	11: 6,605,745	S2G	unknown	Het
Olfr1269	A	T	2: 90,118,699	W300R	probably damaging	Het
Olfr136	C	T	17: 38,335,456	Q100*	probably null	Het
Olfr419	G	T	1: 174,250,756	T57K	possibly damaging	Het
Olfr908	T	C	9: 38,516,116	F28S	probably damaging	Het
Pkd1	T	C	17: 24,576,074	V2245A	probably damaging	Het
Pkdrej	G	A	15: 85,817,118	T1539I	possibly damaging	Het
Plch2	G	T	4: 154,989,999		probably null	Het
Pygm	G	A	19: 6,384,579	R34H	probably damaging	Het
Rgs12	T	C	5: 35,021,104		probably benign	Het
Ruvbl1	T	C	6: 88,485,908	I338T	probably damaging	Het
Sapcd1	T	A	17: 35,026,731	Q104L	probably damaging	Het
Satb2	T	C	1: 56,796,907	E575G	probably damaging	Het
Sema6b	T	A	17: 56,127,091		probably null	Het
Slc25a11	T	C	11: 70,646,185	N15D	probably damaging	Het
Slc26a6	C	T	9: 108,860,646	T526M	probably damaging	Het
Tcaf3	G	T	6: 42,587,510	T906K	possibly damaging	Het
Thbd	A	T	2: 148,406,983	C322S	probably damaging	Het
Traf2	A	G	2: 25,520,440	L399P	probably damaging	Het
Troap	T	A	15: 99,078,817	V274D	probably damaging	Het
Utrn	G	A	10: 12,401,355	T3406M	probably damaging	Het
Uts2	G	T	4: 150,999,051	A40S	possibly damaging	Het
Vmn2r109	T	A	17: 20,554,341	I251F	possibly damaging	Het
Vmn2r67	A	G	7: 85,137,022	S592P	probably damaging	Het
Vps13b	T	G	15: 35,876,413	W2797G	probably damaging	Het
Ythdf1	A	T	2: 180,912,188	M51K	probably damaging	Het
Zfp60	T	A	7: 27,738,530		probably benign	Het
Zfp882	T	A	8: 71,914,360	F344I	probably damaging	Het

Other mutations in Dnase1l1

Allele	Source	Chr	Coord	Type	Predicted Effect
R4691:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R4752:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R4753:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R4814:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R4815:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R4846:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R4861:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R4862:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R4872:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R4873:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R4875:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R4978:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R4979:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R4980:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R4981:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R4982:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R4983:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R5039:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R5084:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R5085:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R5086:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R5087:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R5106:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R5107:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R5108:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R5109:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R5137:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R5171:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R5266:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R5330:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R5417:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R5418:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R5419:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R5448:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R5450:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R5466:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R5467:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R6126:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R6128:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R6129:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R6130:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R6232:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R6233:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R6234:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R6242:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R6305:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R6306:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R6329:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R6343:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R6344:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R6396:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R6397:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R6449:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R6450:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R6585:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R6586:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R6646:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R6679:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R6681:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R6845:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R6847:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null
R8526:Dnase1l1	UTSW	X	74277038	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATTGGTACCAGAGTGGCTGC -3'
(R):5'- AACCTGGATTCCTTTGGAGGG -3'

Sequencing Primer
(F):5'- CAACATCATTCCATTATACCTTACCC -3'
(R):5'- GGTTCCTGATGCACACATAGCAATG -3'

Posted On

2016-07-22