Mutagenetix > Incidental Mutation

Incidental Mutation 'R5271:Dnase1l3'

400346

Institutional Source

Beutler Lab

Gene Symbol

Dnase1l3

Ensembl Gene

ENSMUSG00000025279

Gene Name

deoxyribonuclease 1-like 3

Synonyms

DNasegamma

MMRRC Submission

042861-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R5271 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14475014-14504586 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7993843 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 48 (D48G)

Ref Sequence

ENSEMBL: ENSMUSP00000026315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026315]

AlphaFold

O55070

Predicted Effect

probably damaging
Transcript: ENSMUST00000026315
AA Change: D48G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026315
Gene: ENSMUSG00000025279
AA Change: D48G

Domain	Start	End	E-Value	Type
DNaseIc	9	287	1.24e-210	SMART

Meta Mutation Damage Score

0.2236

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (65/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the deoxyribonuclease I family. The encoded protein hydrolyzes DNA, is not inhibited by actin, and mediates the breakdown of DNA during apoptosis. Mutations in this gene are a cause of systemic lupus erythematosus-16. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired necrosis-associated internucleosomal DNA fragmentation. [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
1700003H04Rik	T	C	3: 124,373,496 (GRCm39)	K33R	possibly damaging	Het
4632415L05Rik	C	T	3: 19,949,311 (GRCm39)		noncoding transcript	Het
4930542C16Rik	A	C	14: 24,665,598 (GRCm39)		noncoding transcript	Het
Adprh	A	T	16: 38,266,416 (GRCm39)	L242*	probably null	Het
Anapc1	G	A	2: 128,527,905 (GRCm39)	Q18*	probably null	Het
Bfar	T	C	16: 13,510,261 (GRCm39)		probably benign	Het
Bmp1	T	C	14: 70,745,568 (GRCm39)	I206V	probably benign	Het
Cc2d1b	T	A	4: 108,480,826 (GRCm39)		probably benign	Het
Clock	A	G	5: 76,389,801 (GRCm39)	I349T	probably damaging	Het
Cox11	A	G	11: 90,534,558 (GRCm39)	Y60C	probably damaging	Het
Cyp1a1	G	A	9: 57,610,121 (GRCm39)	V512M	probably benign	Het
Dcdc2a	T	C	13: 25,371,671 (GRCm39)	F311S	probably benign	Het
Engase	G	T	11: 118,372,223 (GRCm39)	A172S	probably damaging	Het
F2	T	C	2: 91,465,466 (GRCm39)		probably benign	Het
Galnt2l	A	G	8: 122,997,872 (GRCm39)		probably benign	Het
Gcc2	T	C	10: 58,105,517 (GRCm39)	V215A	possibly damaging	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm20671	T	C	5: 32,977,303 (GRCm39)	K1817R	possibly damaging	Het
Gm20939	T	A	17: 95,184,583 (GRCm39)	Y410*	probably null	Het
Gm27013	T	C	6: 130,653,878 (GRCm39)	Y528C	probably damaging	Het
Il23r	T	C	6: 67,400,680 (GRCm39)	H550R	probably benign	Het
Iqgap1	A	T	7: 80,383,896 (GRCm39)	V1056E	probably damaging	Het
Lrit3	T	A	3: 129,581,950 (GRCm39)	Y679F	probably damaging	Het
Megf8	A	T	7: 25,041,131 (GRCm39)	E1120V	probably damaging	Het
Mta1	A	G	12: 113,095,577 (GRCm39)	E518G	probably damaging	Het
Myo9a	A	G	9: 59,814,665 (GRCm39)	I2200M	probably damaging	Het
Ncoa7	T	C	10: 30,598,725 (GRCm39)	H66R	probably benign	Het
Ncor1	A	G	11: 62,231,371 (GRCm39)	V812A	probably damaging	Het
Ndnf	T	C	6: 65,680,650 (GRCm39)	Y310H	possibly damaging	Het
Ndst1	G	A	18: 60,838,204 (GRCm39)	T347I	probably benign	Het
Or10a3m	T	C	7: 108,313,424 (GRCm39)	L276S	probably damaging	Het
Or4c15b	A	T	2: 89,113,297 (GRCm39)	F60Y	probably benign	Het
Pcdhb10	C	A	18: 37,546,222 (GRCm39)	Q433K	probably benign	Het
Pcdhb18	G	A	18: 37,624,649 (GRCm39)	V660M	possibly damaging	Het
Pds5b	T	A	5: 150,646,818 (GRCm39)	N202K	possibly damaging	Het
Pira12	A	T	7: 3,900,566 (GRCm39)	Y61*	probably null	Het
Polk	T	C	13: 96,620,047 (GRCm39)	S718G	probably benign	Het
Ptpdc1	T	C	13: 48,744,174 (GRCm39)	D149G	probably damaging	Het
Rb1cc1	T	A	1: 6,319,417 (GRCm39)	C35*	probably null	Het
Samd9l	C	T	6: 3,376,156 (GRCm39)	M368I	probably benign	Het
Shroom3	T	C	5: 93,110,107 (GRCm39)	M1739T	probably damaging	Het
Slc18a3	A	G	14: 32,185,705 (GRCm39)	L226P	probably damaging	Het
St7l	A	T	3: 104,775,376 (GRCm39)	Y84F	probably damaging	Het
Svil	A	T	18: 5,062,329 (GRCm39)	N392I	probably benign	Het
Syngr1	T	A	15: 79,982,240 (GRCm39)	M9K	probably benign	Het
Taar2	T	C	10: 23,816,930 (GRCm39)	S157P	probably damaging	Het
Tagap1	G	T	17: 7,223,495 (GRCm39)	Y400*	probably null	Het
Tbc1d8	T	A	1: 39,412,848 (GRCm39)	E976V	probably damaging	Het
Tmem163	G	A	1: 127,419,289 (GRCm39)		probably benign	Het
Tnfaip2	A	G	12: 111,414,894 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,536,861 (GRCm39)	S34988N	possibly damaging	Het
Tubg1	T	G	11: 101,011,064 (GRCm39)	N15K	probably damaging	Het
Unc93a2	T	C	17: 7,637,081 (GRCm39)	N149S	possibly damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Zap70	T	A	1: 36,820,446 (GRCm39)	V547D	probably damaging	Het
Zfp146	G	T	7: 29,861,900 (GRCm39)	N47K	probably benign	Het
Znrf1	T	G	8: 112,335,976 (GRCm39)	M159R	probably benign	Het

Other mutations in Dnase1l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03349:Dnase1l3	APN	14	7,984,146 (GRCm38)	missense	probably benign	0.28
R0668:Dnase1l3	UTSW	14	7,968,086 (GRCm38)	critical splice donor site	probably null
R1282:Dnase1l3	UTSW	14	7,983,117 (GRCm38)	missense	probably benign	0.16
R1460:Dnase1l3	UTSW	14	7,974,050 (GRCm38)	missense	probably benign	0.10
R1768:Dnase1l3	UTSW	14	7,974,104 (GRCm38)	missense	probably damaging	1.00
R2418:Dnase1l3	UTSW	14	7,968,089 (GRCm38)	missense	possibly damaging	0.89
R5175:Dnase1l3	UTSW	14	7,987,386 (GRCm38)	nonsense	probably null
R5508:Dnase1l3	UTSW	14	7,968,146 (GRCm38)	missense	probably damaging	1.00
R5561:Dnase1l3	UTSW	14	7,967,847 (GRCm38)	missense	probably damaging	1.00
R6374:Dnase1l3	UTSW	14	7,974,115 (GRCm38)	missense	probably damaging	1.00
R7734:Dnase1l3	UTSW	14	7,977,144 (GRCm38)	missense	probably benign	0.04
R8165:Dnase1l3	UTSW	14	7,994,299 (GRCm38)	start gained	probably benign
R8421:Dnase1l3	UTSW	14	7,968,122 (GRCm38)	missense	possibly damaging	0.94
R9094:Dnase1l3	UTSW	14	7,987,306 (GRCm38)	missense	probably damaging	1.00
R9586:Dnase1l3	UTSW	14	7,967,796 (GRCm38)	missense	possibly damaging	0.52
R9797:Dnase1l3	UTSW	14	7,984,127 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATCCACCCAGTCTGAAGATGG -3'
(R):5'- TAAGTCAGTGAGCCAGGCAC -3'

Sequencing Primer
(F):5'- AACAGAGAATACCCAGAGCTG -3'
(R):5'- AGGCACTGTCTTCATCCAGC -3'

Posted On

2016-07-06