Mutagenetix > Incidental Mutation

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, 2310047C04Rik, 6430549P11Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02519

Quality Score

Status

Chromosome

Chromosomal Location

48744591-48814505 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48748759 bp (GRCm39)

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
Adamts13	A	T	2: 26,868,687 (GRCm39)	I224F	probably damaging	Het
Adamts17	A	G	7: 66,774,721 (GRCm39)	T947A	possibly damaging	Het
Ankfn1	T	C	11: 89,296,504 (GRCm39)	E75G	probably benign	Het
Arfgef1	G	T	1: 10,279,893 (GRCm39)	H225N	probably benign	Het
Arsi	A	G	18: 61,050,139 (GRCm39)	S341G	probably damaging	Het
Aspm	T	A	1: 139,389,665 (GRCm39)		probably benign	Het
Bltp1	A	G	3: 36,949,464 (GRCm39)	E370G	probably damaging	Het
Cacna1i	C	T	15: 80,246,075 (GRCm39)	R490*	probably null	Het
Cd33	C	T	7: 43,178,153 (GRCm39)		probably benign	Het
Clmn	T	C	12: 104,758,112 (GRCm39)	I135V	probably damaging	Het
Crebbp	A	T	16: 3,919,457 (GRCm39)	N795K	possibly damaging	Het
Dhps	A	G	8: 85,799,928 (GRCm39)	D126G	probably damaging	Het
Dlg2	G	T	7: 91,589,323 (GRCm39)	V196L	possibly damaging	Het
Dsg1c	T	A	18: 20,416,790 (GRCm39)	I897N	probably damaging	Het
Epha7	A	T	4: 28,821,494 (GRCm39)	T220S	possibly damaging	Het
Fgf17	A	G	14: 70,875,968 (GRCm39)	I88T	probably damaging	Het
G3bp2	A	G	5: 92,214,383 (GRCm39)	V137A	possibly damaging	Het
Gnal	G	A	18: 67,221,836 (GRCm39)	E80K	unknown	Het
Hectd1	T	G	12: 51,815,894 (GRCm39)	S1393R	probably damaging	Het
Igsf6	T	C	7: 120,667,496 (GRCm39)	I173M	possibly damaging	Het
Il2ra	A	C	2: 11,687,901 (GRCm39)	E227A	possibly damaging	Het
Iqcf6	C	T	9: 106,504,479 (GRCm39)	R48C	probably damaging	Het
Kdm3a	G	T	6: 71,588,570 (GRCm39)	Q480K	probably benign	Het
Larp4b	C	A	13: 9,208,616 (GRCm39)	A423E	probably benign	Het
Magea6	T	C	X: 153,707,741 (GRCm39)	D105G	probably benign	Het
Nop53	C	A	7: 15,673,197 (GRCm39)		probably benign	Het
Or14a260	A	T	7: 85,984,789 (GRCm39)	F272I	probably benign	Het
Or1j10	T	C	2: 36,267,325 (GRCm39)	L179P	possibly damaging	Het
Pgghg	A	G	7: 140,524,894 (GRCm39)	T352A	possibly damaging	Het
Setd2	T	C	9: 110,382,184 (GRCm39)	S1464P	probably damaging	Het
Sspo	C	A	6: 48,461,762 (GRCm39)	T3609N	probably damaging	Het
Sulf1	T	A	1: 12,908,587 (GRCm39)	Y533*	probably null	Het
Thsd7b	A	G	1: 129,540,932 (GRCm39)	S346G	probably benign	Het
Tmem161b	T	A	13: 84,442,863 (GRCm39)	L261Q	probably damaging	Het
Tmem63b	T	A	17: 45,976,134 (GRCm39)	T493S	possibly damaging	Het
Tmprss11d	A	T	5: 86,454,164 (GRCm39)	C214S	probably damaging	Het
Trim16	A	T	11: 62,724,905 (GRCm39)	E144V	possibly damaging	Het
Unc13d	T	C	11: 115,961,359 (GRCm39)	Y356C	probably damaging	Het
Urgcp	A	T	11: 5,667,745 (GRCm39)	F198I	probably benign	Het
Vmn2r111	T	C	17: 22,767,320 (GRCm39)	I726V	possibly damaging	Het
Zzz3	A	T	3: 152,133,027 (GRCm39)	E28D	probably damaging	Het

Other mutations in Dzip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00825:Dzip3	APN	16	48,748,778 (GRCm39)	missense	probably damaging	1.00
IGL00931:Dzip3	APN	16	48,755,860 (GRCm39)	critical splice donor site	probably null
IGL01109:Dzip3	APN	16	48,750,037 (GRCm39)	missense	probably benign	0.27
IGL01121:Dzip3	APN	16	48,765,244 (GRCm39)	missense	probably benign	0.10
IGL01328:Dzip3	APN	16	48,792,621 (GRCm39)	missense	probably damaging	1.00
IGL01729:Dzip3	APN	16	48,748,726 (GRCm39)	missense	possibly damaging	0.78
IGL02044:Dzip3	APN	16	48,768,790 (GRCm39)	missense	possibly damaging	0.90
IGL02051:Dzip3	APN	16	48,792,617 (GRCm39)	missense	probably benign	0.01
IGL02115:Dzip3	APN	16	48,768,848 (GRCm39)	missense	probably benign	0.00
IGL02125:Dzip3	APN	16	48,747,959 (GRCm39)	missense	probably damaging	1.00
IGL02136:Dzip3	APN	16	48,747,945 (GRCm39)	missense	possibly damaging	0.94
IGL02244:Dzip3	APN	16	48,801,351 (GRCm39)	missense	probably benign	0.01
IGL02253:Dzip3	APN	16	48,765,287 (GRCm39)	missense	probably benign	0.34
IGL02412:Dzip3	APN	16	48,778,820 (GRCm39)	missense	probably benign	0.00
IGL02452:Dzip3	APN	16	48,758,900 (GRCm39)	splice site	probably benign
IGL02481:Dzip3	APN	16	48,795,914 (GRCm39)	splice site	probably benign
IGL02499:Dzip3	APN	16	48,754,213 (GRCm39)	missense	probably damaging	1.00
IGL02511:Dzip3	APN	16	48,757,343 (GRCm39)	missense	possibly damaging	0.75
IGL02610:Dzip3	APN	16	48,772,016 (GRCm39)	missense	probably damaging	1.00
IGL03129:Dzip3	APN	16	48,762,446 (GRCm39)	missense	possibly damaging	0.51
IGL03342:Dzip3	APN	16	48,749,986 (GRCm39)	missense	probably damaging	0.98
IGL03493:Dzip3	APN	16	48,772,059 (GRCm39)	missense	probably benign	0.32
corvette	UTSW	16	48,747,903 (GRCm39)	critical splice donor site	probably null
dazwick	UTSW	16	48,778,828 (GRCm39)	missense	possibly damaging	0.90
1mM(1):Dzip3	UTSW	16	48,771,920 (GRCm39)	missense	probably damaging	1.00
PIT4651001:Dzip3	UTSW	16	48,765,241 (GRCm39)	missense	probably benign
R0313:Dzip3	UTSW	16	48,757,424 (GRCm39)	missense	probably damaging	0.99
R0483:Dzip3	UTSW	16	48,768,076 (GRCm39)	missense	possibly damaging	0.94
R0504:Dzip3	UTSW	16	48,780,006 (GRCm39)	splice site	probably benign
R0744:Dzip3	UTSW	16	48,780,038 (GRCm39)	missense	probably damaging	1.00
R0800:Dzip3	UTSW	16	48,774,171 (GRCm39)	splice site	probably benign
R0927:Dzip3	UTSW	16	48,795,840 (GRCm39)	missense	probably damaging	0.99
R0931:Dzip3	UTSW	16	48,771,921 (GRCm39)	missense	probably damaging	1.00
R1170:Dzip3	UTSW	16	48,781,571 (GRCm39)	missense	probably damaging	1.00
R1203:Dzip3	UTSW	16	48,772,180 (GRCm39)	missense	probably damaging	1.00
R1205:Dzip3	UTSW	16	48,772,044 (GRCm39)	missense	probably damaging	1.00
R1442:Dzip3	UTSW	16	48,765,985 (GRCm39)	missense	probably benign	0.19
R1526:Dzip3	UTSW	16	48,757,369 (GRCm39)	missense	probably damaging	1.00
R1560:Dzip3	UTSW	16	48,771,903 (GRCm39)	splice site	probably null
R1585:Dzip3	UTSW	16	48,798,241 (GRCm39)	splice site	probably benign
R1682:Dzip3	UTSW	16	48,778,780 (GRCm39)	critical splice donor site	probably null
R1957:Dzip3	UTSW	16	48,747,956 (GRCm39)	missense	probably damaging	1.00
R2472:Dzip3	UTSW	16	48,774,150 (GRCm39)	missense	possibly damaging	0.85
R2571:Dzip3	UTSW	16	48,792,581 (GRCm39)	splice site	probably null
R3040:Dzip3	UTSW	16	48,748,687 (GRCm39)	missense	probably damaging	1.00
R3081:Dzip3	UTSW	16	48,747,921 (GRCm39)	missense	probably damaging	1.00
R3615:Dzip3	UTSW	16	48,757,426 (GRCm39)	missense	probably damaging	1.00
R3616:Dzip3	UTSW	16	48,757,426 (GRCm39)	missense	probably damaging	1.00
R3786:Dzip3	UTSW	16	48,795,906 (GRCm39)	missense	probably benign	0.08
R3851:Dzip3	UTSW	16	48,770,376 (GRCm39)	missense	possibly damaging	0.94
R4097:Dzip3	UTSW	16	48,778,852 (GRCm39)	nonsense	probably null
R4371:Dzip3	UTSW	16	48,763,818 (GRCm39)	critical splice donor site	probably null
R4612:Dzip3	UTSW	16	48,772,403 (GRCm39)	nonsense	probably null
R4671:Dzip3	UTSW	16	48,799,953 (GRCm39)	nonsense	probably null
R4695:Dzip3	UTSW	16	48,771,924 (GRCm39)	missense	probably damaging	1.00
R4696:Dzip3	UTSW	16	48,746,332 (GRCm39)	unclassified	probably benign
R4769:Dzip3	UTSW	16	48,758,837 (GRCm39)	missense	probably damaging	0.97
R5063:Dzip3	UTSW	16	48,774,117 (GRCm39)	nonsense	probably null
R5321:Dzip3	UTSW	16	48,778,038 (GRCm39)	missense	possibly damaging	0.95
R5764:Dzip3	UTSW	16	48,747,724 (GRCm39)	intron	probably benign
R6020:Dzip3	UTSW	16	48,772,205 (GRCm39)	missense	probably damaging	1.00
R6218:Dzip3	UTSW	16	48,778,828 (GRCm39)	missense	possibly damaging	0.90
R6300:Dzip3	UTSW	16	48,772,170 (GRCm39)	missense	probably damaging	1.00
R6365:Dzip3	UTSW	16	48,751,636 (GRCm39)	missense	probably damaging	0.96
R6778:Dzip3	UTSW	16	48,802,446 (GRCm39)	missense	probably benign	0.00
R6915:Dzip3	UTSW	16	48,762,488 (GRCm39)	missense	possibly damaging	0.72
R7047:Dzip3	UTSW	16	48,802,489 (GRCm39)	missense	probably benign	0.04
R7059:Dzip3	UTSW	16	48,801,305 (GRCm39)	missense	probably benign	0.34
R7095:Dzip3	UTSW	16	48,748,153 (GRCm39)	missense	probably benign
R7227:Dzip3	UTSW	16	48,771,932 (GRCm39)	missense	probably damaging	0.99
R7319:Dzip3	UTSW	16	48,747,903 (GRCm39)	critical splice donor site	probably null
R7436:Dzip3	UTSW	16	48,772,352 (GRCm39)	missense	probably damaging	1.00
R7469:Dzip3	UTSW	16	48,765,242 (GRCm39)	missense	probably benign
R7526:Dzip3	UTSW	16	48,795,837 (GRCm39)	missense	probably damaging	0.99
R7964:Dzip3	UTSW	16	48,772,268 (GRCm39)	missense	probably damaging	1.00
R8131:Dzip3	UTSW	16	48,754,156 (GRCm39)	critical splice donor site	probably null
R8188:Dzip3	UTSW	16	48,772,499 (GRCm39)	missense	probably damaging	1.00
R8209:Dzip3	UTSW	16	48,798,307 (GRCm39)	missense	probably damaging	1.00
R8750:Dzip3	UTSW	16	48,801,338 (GRCm39)	missense	probably damaging	0.99
R8758:Dzip3	UTSW	16	48,798,300 (GRCm39)	missense	probably damaging	1.00
R8784:Dzip3	UTSW	16	48,751,628 (GRCm39)	missense	probably damaging	0.99
R9086:Dzip3	UTSW	16	48,781,493 (GRCm39)	missense	possibly damaging	0.81
R9157:Dzip3	UTSW	16	48,748,124 (GRCm39)	missense	probably benign
R9170:Dzip3	UTSW	16	48,772,401 (GRCm39)	missense	possibly damaging	0.74
R9762:Dzip3	UTSW	16	48,748,707 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16