Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00725:Dnase2b'

13428

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnase2b

Ensembl Gene

ENSMUSG00000028185

Gene Name

deoxyribonuclease II beta

Synonyms

Dlad, DnaseIIb

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL00725

Quality Score

Status

Chromosome

Chromosomal Location

146286740-146321351 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 146302133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 8 (T8I)

Ref Sequence

ENSEMBL: ENSMUSP00000142872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029836] [ENSMUST00000029837] [ENSMUST00000121133] [ENSMUST00000147409] [ENSMUST00000199489] [ENSMUST00000200633]

AlphaFold

Q9QY48

Predicted Effect

probably benign
Transcript: ENSMUST00000029836
AA Change: T8I

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029836
Gene: ENSMUSG00000028185
AA Change: T8I

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:DNase_II	27	353	1.5e-112	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000029837

SMART Domains

Protein: ENSMUSP00000029837
Gene: ENSMUSG00000028186

Domain	Start	End	E-Value	Type
Pfam:Uricase	19	144	8.7e-25	PFAM
Pfam:Uricase	153	292	5.6e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121133

SMART Domains

Protein: ENSMUSP00000113649
Gene: ENSMUSG00000028186

Domain	Start	End	E-Value	Type
Pfam:Uricase	2	72	1.2e-19	PFAM
Pfam:Uricase	79	181	8.5e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138921

Predicted Effect

probably benign
Transcript: ENSMUST00000147409

SMART Domains

Protein: ENSMUSP00000143299
Gene: ENSMUSG00000028186

Domain	Start	End	E-Value	Type
Pfam:Uricase	1	73	1.1e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199489

SMART Domains

Protein: ENSMUSP00000143418
Gene: ENSMUSG00000028186

Domain	Start	End	E-Value	Type
Pfam:Uricase	1	121	8.3e-35	PFAM
Pfam:Uricase	128	228	1.8e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200633
AA Change: T8I

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142872
Gene: ENSMUSG00000028185
AA Change: T8I

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:DNase_II	26	353	4.5e-117	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares considerable sequence similarity to, and is structurally related to DNase II. The latter is a well characterized endonuclease that catalyzes DNA hydrolysis in the absence of divalent cations at acidic pH. Unlike DNase II which is ubiquitously expressed, expression of this gene product is restricted to the salivary gland and lungs. The gene has been localized to chromosome 1p22.3 adjacent (and in opposite orientation) to the uricase pseudogene. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: The inability of homozygous mutant mice to degrade DNA in differentiating lens cells leads to cataract formation in the nucleus lentis. Consequently, mutant mice exhibit an impaired response to light. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp11b	G	T	3: 35,881,222 (GRCm39)	R593L	probably damaging	Het
Axl	A	T	7: 25,463,908 (GRCm39)	D566E	probably damaging	Het
Ccp110	A	G	7: 118,329,946 (GRCm39)	D912G	probably damaging	Het
Clca3b	C	T	3: 144,544,923 (GRCm39)	D355N	probably benign	Het
Clock	A	C	5: 76,402,260 (GRCm39)	Y133*	probably null	Het
Cntn4	T	A	6: 106,639,616 (GRCm39)	V582E	probably damaging	Het
Ddx1	A	G	12: 13,277,460 (GRCm39)		probably benign	Het
Ddx1	A	G	12: 13,295,691 (GRCm39)	L43P	probably damaging	Het
Ermard	T	C	17: 15,208,328 (GRCm39)		probably benign	Het
Gtf3c2	A	G	5: 31,331,752 (GRCm39)	V22A	probably damaging	Het
Ifi208	T	C	1: 173,510,427 (GRCm39)	I194T	possibly damaging	Het
Krt9	T	A	11: 100,080,832 (GRCm39)	E340V	probably damaging	Het
Nup58	G	T	14: 60,480,889 (GRCm39)	T152K	possibly damaging	Het
Otog	A	G	7: 45,923,516 (GRCm39)	S1050G	probably damaging	Het
Prkdc	A	G	16: 15,634,503 (GRCm39)	N3580S	probably benign	Het
Rsbn1	T	C	3: 103,836,137 (GRCm39)	S392P	probably damaging	Het
Sestd1	T	C	2: 77,018,866 (GRCm39)	I647V	probably benign	Het
Sugct	A	T	13: 17,837,357 (GRCm39)	S91R	probably damaging	Het
Syne1	A	G	10: 5,344,922 (GRCm38)	Y1227S	possibly damaging	Het
Synpo	C	T	18: 60,737,149 (GRCm39)	V27I	probably damaging	Het
Tcp11l2	T	C	10: 84,430,574 (GRCm39)	I233T	possibly damaging	Het
Vwde	A	G	6: 13,187,411 (GRCm39)	V692A	probably benign	Het

Other mutations in Dnase2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01626:Dnase2b	APN	3	146,290,371 (GRCm39)	splice site	probably null
IGL02582:Dnase2b	APN	3	146,294,840 (GRCm39)	missense	probably benign	0.00
IGL02970:Dnase2b	APN	3	146,288,261 (GRCm39)	missense	probably damaging	0.97
R0006:Dnase2b	UTSW	3	146,288,244 (GRCm39)	missense	probably damaging	0.99
R0006:Dnase2b	UTSW	3	146,288,244 (GRCm39)	missense	probably damaging	0.99
R0233:Dnase2b	UTSW	3	146,288,305 (GRCm39)	missense	probably benign	0.01
R0233:Dnase2b	UTSW	3	146,288,305 (GRCm39)	missense	probably benign	0.01
R0539:Dnase2b	UTSW	3	146,294,910 (GRCm39)	splice site	probably benign
R1544:Dnase2b	UTSW	3	146,290,312 (GRCm39)	missense	probably benign	0.03
R2201:Dnase2b	UTSW	3	146,290,443 (GRCm39)	missense	probably damaging	0.99
R3690:Dnase2b	UTSW	3	146,299,326 (GRCm39)	nonsense	probably null
R4921:Dnase2b	UTSW	3	146,299,196 (GRCm39)	missense	probably damaging	1.00
R5318:Dnase2b	UTSW	3	146,288,210 (GRCm39)	missense	probably benign	0.02
R6226:Dnase2b	UTSW	3	146,290,318 (GRCm39)	missense	probably benign
R6593:Dnase2b	UTSW	3	146,292,666 (GRCm39)	missense	probably damaging	1.00
R6781:Dnase2b	UTSW	3	146,288,126 (GRCm39)	missense	probably benign	0.40
R7035:Dnase2b	UTSW	3	146,288,096 (GRCm39)	missense	probably damaging	1.00
R7314:Dnase2b	UTSW	3	146,288,151 (GRCm39)	missense	probably damaging	0.99
R8992:Dnase2b	UTSW	3	146,292,717 (GRCm39)	missense	probably damaging	1.00
R9154:Dnase2b	UTSW	3	146,299,326 (GRCm39)	nonsense	probably null
R9590:Dnase2b	UTSW	3	146,290,323 (GRCm39)	missense	probably benign	0.00

Posted On

2012-12-06