Mutagenetix > Incidental Mutations

Incidental Mutation 'R4980:Dnase1l1'

384789

Institutional Source

Beutler Lab

Gene Symbol

Dnase1l1

Ensembl Gene

ENSMUSG00000019088

Gene Name

deoxyribonuclease 1-like 1

Synonyms

Dnase1ll, G4.8, Dnl1ll, 2310005K03Rik

MMRRC Submission

042575-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R4980 (G1)

Quality Score

222

Status

Not 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

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113515 (fasta)

Gene Model

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

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,737,426	C189S	probably damaging	Het
4932438A13Rik	T	C	3: 36,943,312	S1173P	probably damaging	Het
9030624J02Rik	T	A	7: 118,807,009	D605E	probably damaging	Het
Abcd3	A	T	3: 121,769,268		probably null	Het
Adar	T	C	3: 89,730,814	S2P	probably benign	Het
Amhr2	T	A	15: 102,454,330	S511T	probably benign	Het
Atg16l1	T	C	1: 87,766,831	S77P	possibly damaging	Het
C530008M17Rik	A	T	5: 76,857,574	D594V	unknown	Het
Cacna1i	T	C	15: 80,348,449	F218L	probably damaging	Het
Cd5l	A	T	3: 87,367,601	H149L	probably benign	Het
Cdc14a	T	A	3: 116,392,857	R92*	probably null	Het
Col19a1	T	C	1: 24,526,483	T256A	unknown	Het
Col22a1	C	T	15: 71,801,943	A975T	unknown	Het
Cyp20a1	T	C	1: 60,363,214	W153R	probably damaging	Het
Dpyd	T	C	3: 118,917,118	S392P	probably damaging	Het
Dst	A	T	1: 34,256,288	L957F	probably damaging	Het
Emilin2	G	T	17: 71,253,071	D970E	possibly damaging	Het
Fam208a	T	A	14: 27,461,425	L614I	probably benign	Het
Fbn2	T	C	18: 58,010,631	E2784G	probably benign	Het
Fbxw10	T	C	11: 62,847,757	I159T	possibly damaging	Het
Fgfr2	T	C	7: 130,201,080	Y192C	probably damaging	Het
Gm7298	A	G	6: 121,759,239		probably null	Het
Igf2r	C	T	17: 12,703,360		probably null	Het
Ints4	T	C	7: 97,501,850		probably null	Het
Kcnf1	A	G	12: 17,175,011	F403S	possibly damaging	Het
Kif11	C	T	19: 37,387,371	Q211*	probably null	Het
Kif13a	A	G	13: 46,752,746	S574P	possibly damaging	Het
Kifc3	T	A	8: 95,126,549	T60S	probably benign	Het
Krt82	T	C	15: 101,545,099	D284G	possibly damaging	Het
Lancl1	T	C	1: 67,004,809	Y344C	probably benign	Het
Ltbp3	A	T	19: 5,753,927		probably null	Het
Map3k4	A	G	17: 12,272,071	F158L	probably damaging	Het
Mast2	A	G	4: 116,317,751	Y469H	probably damaging	Het
Mcf2l	T	G	8: 12,984,883	F97C	probably damaging	Het
Mpeg1	T	C	19: 12,461,540	S121P	probably damaging	Het
Mycbp2	A	T	14: 103,260,385		probably null	Het
Myt1l	A	T	12: 29,827,039	T230S	unknown	Het
Naa15	T	C	3: 51,458,752		probably null	Het
Nans	G	A	4: 46,492,764	R64Q	probably benign	Het
Nbea	C	T	3: 55,647,351		probably null	Het
Nbea	T	C	3: 55,953,045	E1870G	probably benign	Het
Ncapd3	T	C	9: 27,063,295	S688P	probably damaging	Het
Nedd4l	G	T	18: 65,080,060	E96*	probably null	Het
Olfr1444	A	T	19: 12,862,020	M82L	probably benign	Het
Olfr683	T	A	7: 105,144,224	Y23F	probably benign	Het
Pdxk	A	G	10: 78,451,484	L81P	probably damaging	Het
Plec	T	A	15: 76,193,295	R269*	probably null	Het
Plec	T	C	15: 76,205,865	I92V	probably damaging	Het
Ppara	T	C	15: 85,787,233	Y112H	probably damaging	Het
Ppp2r2c	A	T	5: 36,952,388	M364L	probably benign	Het
Prag1	A	C	8: 36,139,586	H827P	probably damaging	Het
Ptprg	A	G	14: 12,154,421	N714S	probably benign	Het
Rbp2	G	A	9: 98,498,841	V67I	probably benign	Het
Rictor	T	A	15: 6,781,660	Y835N	probably damaging	Het
Ripply2	A	G	9: 87,019,694	Q91R	probably damaging	Het
Sap130	C	A	18: 31,649,646	H203Q	possibly damaging	Het
Sema4d	T	C	13: 51,711,234	Y358C	probably damaging	Het
Serbp1	G	A	6: 67,277,888	D294N	probably benign	Het
Slc16a10	A	G	10: 40,080,805	W113R	probably damaging	Het
Slc6a6	A	G	6: 91,726,060	Y138C	probably damaging	Het
Spag11a	T	C	8: 19,157,946	M1T	probably null	Het
Spata20	T	C	11: 94,484,609	M120V	probably damaging	Het
Stk32a	A	C	18: 43,314,048	K357Q	probably benign	Het
Trmo	A	T	4: 46,389,364	C10*	probably null	Het
Tsc22d1	T	G	14: 76,418,256	V643G	probably benign	Het
Vangl2	A	T	1: 172,009,565	L226I	probably damaging	Het
Wnt3a	A	T	11: 59,249,800	C297S	probably damaging	Het
Wwc1	T	C	11: 35,888,103	K301E	possibly damaging	Het
Zfhx4	C	T	3: 5,398,979	T1399I	possibly damaging	Het
Zswim4	C	T	8: 84,226,667		probably null	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
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
R5296: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'- AAGATTGGTACCAGAGTGGCTG -3'
(R):5'- CTTTGGAGGGTTCCTGATGCAC -3'

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

Posted On

2016-05-10