Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02519:Dzip3'

296895

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dzip3

Ensembl Gene

ENSMUSG00000064061

Gene Name

DAZ interacting protein 3, zinc finger

Synonyms

2A-HUB, 6430549P11Rik, 2310047C04Rik

Accession Numbers

Genbank: NM_001110017.1, NM_027341.2; Ensembl: ENSMUST00000121869

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02519

Quality Score

Status

Chromosome

Chromosomal Location

48924232-48994165 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48928396 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 1059 (L1059S)

Ref Sequence

ENSEMBL: ENSMUSP00000113344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114516] [ENSMUST00000121869]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000114516
AA Change: L853S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110161
Gene: ENSMUSG00000064061
AA Change: L853S

Domain	Start	End	E-Value	Type
low complexity region	451	472	N/A	INTRINSIC
coiled coil region	548	568	N/A	INTRINSIC
coiled coil region	599	650	N/A	INTRINSIC
low complexity region	743	754	N/A	INTRINSIC
low complexity region	883	891	N/A	INTRINSIC
RING	938	977	2.09e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000121869
AA Change: L1059S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113344
Gene: ENSMUSG00000064061
AA Change: L1059S

Domain	Start	End	E-Value	Type
low complexity region	657	678	N/A	INTRINSIC
coiled coil region	754	774	N/A	INTRINSIC
coiled coil region	805	856	N/A	INTRINSIC
low complexity region	949	960	N/A	INTRINSIC
low complexity region	1089	1097	N/A	INTRINSIC
RING	1144	1183	2.09e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123961

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147358

Predicted Effect

unknown
Transcript: ENSMUST00000151950
AA Change: L51S

SMART Domains

Protein: ENSMUSP00000117675
Gene: ENSMUSG00000064061
AA Change: L51S

Domain	Start	End	E-Value	Type
low complexity region	82	90	N/A	INTRINSIC
SCOP:d1ldjb_	113	161	1e-3	SMART
Blast:RING	137	161	4e-10	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-indcued allele exhibit embryonic lethality. [provided by MGI curators]

Allele List at MGI

All alleles(23) : Gene trapped(23)

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,895,315	E370G	probably damaging	Het
Adamts13	A	T	2: 26,978,675	I224F	probably damaging	Het
Adamts17	A	G	7: 67,124,973	T947A	possibly damaging	Het
Ankfn1	T	C	11: 89,405,678	E75G	probably benign	Het
Arfgef1	G	T	1: 10,209,668	H225N	probably benign	Het
Arsi	A	G	18: 60,917,067	S341G	probably damaging	Het
Aspm	T	A	1: 139,461,927		probably benign	Het
Cacna1i	C	T	15: 80,361,874	R490*	probably null	Het
Cd33	C	T	7: 43,528,729		probably benign	Het
Clmn	T	C	12: 104,791,853	I135V	probably damaging	Het
Crebbp	A	T	16: 4,101,593	N795K	possibly damaging	Het
Dhps	A	G	8: 85,073,299	D126G	probably damaging	Het
Dlg2	G	T	7: 91,940,115	V196L	possibly damaging	Het
Dsg1c	T	A	18: 20,283,733	I897N	probably damaging	Het
Epha7	A	T	4: 28,821,494	T220S	possibly damaging	Het
Fgf17	A	G	14: 70,638,528	I88T	probably damaging	Het
G3bp2	A	G	5: 92,066,524	V137A	possibly damaging	Het
Gnal	G	A	18: 67,088,765	E80K	unknown	Het
Hectd1	T	G	12: 51,769,111	S1393R	probably damaging	Het
Igsf6	T	C	7: 121,068,273	I173M	possibly damaging	Het
Il2ra	A	C	2: 11,683,090	E227A	possibly damaging	Het
Iqcf6	C	T	9: 106,627,280	R48C	probably damaging	Het
Kdm3a	G	T	6: 71,611,586	Q480K	probably benign	Het
Larp4b	C	A	13: 9,158,580	A423E	probably benign	Het
Magea6	T	C	X: 154,924,745	D105G	probably benign	Het
Nop53	C	A	7: 15,939,272		probably benign	Het
Olfr307	A	T	7: 86,335,581	F272I	probably benign	Het
Olfr338	T	C	2: 36,377,313	L179P	possibly damaging	Het
Pgghg	A	G	7: 140,944,981	T352A	possibly damaging	Het
Setd2	T	C	9: 110,553,116	S1464P	probably damaging	Het
Sspo	C	A	6: 48,484,828	T3609N	probably damaging	Het
Sulf1	T	A	1: 12,838,363	Y533*	probably null	Het
Thsd7b	A	G	1: 129,613,195	S346G	probably benign	Het
Tmem161b	T	A	13: 84,294,744	L261Q	probably damaging	Het
Tmem63b	T	A	17: 45,665,208	T493S	possibly damaging	Het
Tmprss11d	A	T	5: 86,306,305	C214S	probably damaging	Het
Trim16	A	T	11: 62,834,079	E144V	possibly damaging	Het
Unc13d	T	C	11: 116,070,533	Y356C	probably damaging	Het
Urgcp	A	T	11: 5,717,745	F198I	probably benign	Het
Vmn2r111	T	C	17: 22,548,339	I726V	possibly damaging	Het
Zzz3	A	T	3: 152,427,390	E28D	probably damaging	Het

Other mutations in Dzip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00825:Dzip3	APN	16	48928415	missense	probably damaging	1.00
IGL00931:Dzip3	APN	16	48935497	critical splice donor site	probably null
IGL01109:Dzip3	APN	16	48929674	missense	probably benign	0.27
IGL01121:Dzip3	APN	16	48944881	missense	probably benign	0.10
IGL01328:Dzip3	APN	16	48972258	missense	probably damaging	1.00
IGL01729:Dzip3	APN	16	48928363	missense	possibly damaging	0.78
IGL02044:Dzip3	APN	16	48948427	missense	possibly damaging	0.90
IGL02051:Dzip3	APN	16	48972254	missense	probably benign	0.01
IGL02115:Dzip3	APN	16	48948485	missense	probably benign	0.00
IGL02125:Dzip3	APN	16	48927596	missense	probably damaging	1.00
IGL02136:Dzip3	APN	16	48927582	missense	possibly damaging	0.94
IGL02244:Dzip3	APN	16	48980988	missense	probably benign	0.01
IGL02253:Dzip3	APN	16	48944924	missense	probably benign	0.34
IGL02412:Dzip3	APN	16	48958457	missense	probably benign	0.00
IGL02452:Dzip3	APN	16	48938537	splice site	probably benign
IGL02481:Dzip3	APN	16	48975551	splice site	probably benign
IGL02499:Dzip3	APN	16	48933850	missense	probably damaging	1.00
IGL02511:Dzip3	APN	16	48936980	missense	possibly damaging	0.75
IGL02610:Dzip3	APN	16	48951653	missense	probably damaging	1.00
IGL03129:Dzip3	APN	16	48942083	missense	possibly damaging	0.51
IGL03342:Dzip3	APN	16	48929623	missense	probably damaging	0.98
IGL03493:Dzip3	APN	16	48951696	missense	probably benign	0.32
corvette	UTSW	16	48927540	critical splice donor site	probably null
dazwick	UTSW	16	48958465	missense	possibly damaging	0.90
1mM(1):Dzip3	UTSW	16	48951557	missense	probably damaging	1.00
PIT4651001:Dzip3	UTSW	16	48944878	missense	probably benign
R0313:Dzip3	UTSW	16	48937061	missense	probably damaging	0.99
R0483:Dzip3	UTSW	16	48947713	missense	possibly damaging	0.94
R0504:Dzip3	UTSW	16	48959643	splice site	probably benign
R0744:Dzip3	UTSW	16	48959675	missense	probably damaging	1.00
R0800:Dzip3	UTSW	16	48953808	splice site	probably benign
R0927:Dzip3	UTSW	16	48975477	missense	probably damaging	0.99
R0931:Dzip3	UTSW	16	48951558	missense	probably damaging	1.00
R1170:Dzip3	UTSW	16	48961208	missense	probably damaging	1.00
R1203:Dzip3	UTSW	16	48951817	missense	probably damaging	1.00
R1205:Dzip3	UTSW	16	48951681	missense	probably damaging	1.00
R1442:Dzip3	UTSW	16	48945622	missense	probably benign	0.19
R1526:Dzip3	UTSW	16	48937006	missense	probably damaging	1.00
R1560:Dzip3	UTSW	16	48951540	splice site	probably null
R1585:Dzip3	UTSW	16	48977878	splice site	probably benign
R1682:Dzip3	UTSW	16	48958417	critical splice donor site	probably null
R1957:Dzip3	UTSW	16	48927593	missense	probably damaging	1.00
R2472:Dzip3	UTSW	16	48953787	missense	possibly damaging	0.85
R2571:Dzip3	UTSW	16	48972218	splice site	probably null
R3040:Dzip3	UTSW	16	48928324	missense	probably damaging	1.00
R3081:Dzip3	UTSW	16	48927558	missense	probably damaging	1.00
R3615:Dzip3	UTSW	16	48937063	missense	probably damaging	1.00
R3616:Dzip3	UTSW	16	48937063	missense	probably damaging	1.00
R3786:Dzip3	UTSW	16	48975543	missense	probably benign	0.08
R3851:Dzip3	UTSW	16	48950013	missense	possibly damaging	0.94
R4097:Dzip3	UTSW	16	48958489	nonsense	probably null
R4371:Dzip3	UTSW	16	48943455	critical splice donor site	probably null
R4612:Dzip3	UTSW	16	48952040	nonsense	probably null
R4671:Dzip3	UTSW	16	48979590	nonsense	probably null
R4695:Dzip3	UTSW	16	48951561	missense	probably damaging	1.00
R4696:Dzip3	UTSW	16	48925969	unclassified	probably benign
R4769:Dzip3	UTSW	16	48938474	missense	probably damaging	0.97
R5063:Dzip3	UTSW	16	48953754	nonsense	probably null
R5321:Dzip3	UTSW	16	48957675	missense	possibly damaging	0.95
R5764:Dzip3	UTSW	16	48927361	intron	probably benign
R6020:Dzip3	UTSW	16	48951842	missense	probably damaging	1.00
R6218:Dzip3	UTSW	16	48958465	missense	possibly damaging	0.90
R6300:Dzip3	UTSW	16	48951807	missense	probably damaging	1.00
R6365:Dzip3	UTSW	16	48931273	missense	probably damaging	0.96
R6778:Dzip3	UTSW	16	48982083	missense	probably benign	0.00
R6915:Dzip3	UTSW	16	48942125	missense	possibly damaging	0.72
R7047:Dzip3	UTSW	16	48982126	missense	probably benign	0.04
R7059:Dzip3	UTSW	16	48980942	missense	probably benign	0.34
R7095:Dzip3	UTSW	16	48927790	missense	probably benign
R7227:Dzip3	UTSW	16	48951569	missense	probably damaging	0.99
R7319:Dzip3	UTSW	16	48927540	critical splice donor site	probably null
R7436:Dzip3	UTSW	16	48951989	missense	probably damaging	1.00
R7469:Dzip3	UTSW	16	48944879	missense	probably benign
R7526:Dzip3	UTSW	16	48975474	missense	probably damaging	0.99
R7964:Dzip3	UTSW	16	48951905	missense	probably damaging	1.00
R8131:Dzip3	UTSW	16	48933793	critical splice donor site	probably null
R8188:Dzip3	UTSW	16	48952136	missense	probably damaging	1.00
R8209:Dzip3	UTSW	16	48977944	missense	probably damaging	1.00
R8750:Dzip3	UTSW	16	48980975	missense	probably damaging	0.99
R8758:Dzip3	UTSW	16	48977937	missense	probably damaging	1.00
R8784:Dzip3	UTSW	16	48931265	missense	probably damaging	0.99
R9086:Dzip3	UTSW	16	48961130	missense	possibly damaging	0.81
R9157:Dzip3	UTSW	16	48927761	missense	probably benign
R9170:Dzip3	UTSW	16	48952038	missense	possibly damaging	0.74

Posted On

2015-04-16