Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01729:Dzip3'

105414

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 #

IGL01729

Quality Score

Status

Chromosome

Chromosomal Location

48744591-48814505 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48748726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 864 (V864E)

Ref Sequence

ENSEMBL: ENSMUSP00000110161 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114516
AA Change: V864E

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000110161
Gene: ENSMUSG00000064061
AA Change: V864E

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 benign
Transcript: ENSMUST00000121869
AA Change: V1070E

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113344
Gene: ENSMUSG00000064061
AA Change: V1070E

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: V62E

SMART Domains

Protein: ENSMUSP00000117675
Gene: ENSMUSG00000064061
AA Change: V62E

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	A	G	15: 83,112,526 (GRCm39)	F86L	probably damaging	Het
Acer3	A	G	7: 97,866,072 (GRCm39)	V217A	probably benign	Het
Adcy10	T	C	1: 165,340,737 (GRCm39)		probably null	Het
Adcy8	C	T	15: 64,678,511 (GRCm39)	V481I	probably damaging	Het
Ano3	C	T	2: 110,611,739 (GRCm39)		probably null	Het
Arhgap23	C	T	11: 97,344,787 (GRCm39)	T583I	probably damaging	Het
Atp2a1	A	G	7: 126,057,106 (GRCm39)	L173P	probably damaging	Het
Clgn	T	C	8: 84,124,279 (GRCm39)	W74R	probably damaging	Het
Clstn3	T	C	6: 124,426,753 (GRCm39)	S523G	probably benign	Het
Dnah10	A	C	5: 124,864,529 (GRCm39)	K2245Q	probably benign	Het
Dsg1b	G	T	18: 20,538,295 (GRCm39)	V634L	possibly damaging	Het
Ear2	A	T	14: 44,340,701 (GRCm39)	R120*	probably null	Het
Fam171b	T	C	2: 83,685,881 (GRCm39)		probably benign	Het
Fam186b	G	A	15: 99,178,132 (GRCm39)	S398L	probably benign	Het
Gabrp	T	C	11: 33,502,689 (GRCm39)	K392E	probably damaging	Het
Gm10355	G	A	3: 101,213,999 (GRCm39)		noncoding transcript	Het
Gm3424	T	C	14: 17,337,188 (GRCm39)	Y90C	probably damaging	Het
Gm8165	A	G	14: 43,910,186 (GRCm39)	V212A	unknown	Het
Grm7	G	A	6: 111,223,145 (GRCm39)	R395Q	probably benign	Het
Il1r1	T	A	1: 40,333,986 (GRCm39)	N185K	probably damaging	Het
Jam3	A	G	9: 27,016,821 (GRCm39)	F80L	probably damaging	Het
Map1s	T	C	8: 71,365,712 (GRCm39)	Y206H	probably damaging	Het
Mroh7	A	G	4: 106,561,402 (GRCm39)	Y614H	possibly damaging	Het
Ntmt2	T	A	1: 163,552,572 (GRCm39)	D18V	probably damaging	Het
Pate2	T	C	9: 35,581,888 (GRCm39)	Y61H	probably damaging	Het
Prox1	T	A	1: 189,893,372 (GRCm39)	T358S	probably benign	Het
Prpf6	T	A	2: 181,296,710 (GRCm39)	D876E	probably damaging	Het
Rpf1	G	A	3: 146,212,904 (GRCm39)	R311C	probably damaging	Het
Rpusd2	T	A	2: 118,865,837 (GRCm39)	V178D	probably damaging	Het
Stx2	A	G	5: 129,068,042 (GRCm39)	F222L	probably benign	Het
Themis	T	A	10: 28,637,587 (GRCm39)	Y230*	probably null	Het
Tmem132e	T	C	11: 82,325,942 (GRCm39)	L314P	possibly damaging	Het
Tmtc3	T	C	10: 100,283,017 (GRCm39)	E846G	probably benign	Het
Trem1	T	C	17: 48,551,603 (GRCm39)	V88A	possibly damaging	Het
Trim21	G	A	7: 102,213,100 (GRCm39)	A66V	probably damaging	Het
Trip4	A	C	9: 65,782,174 (GRCm39)	V186G	probably benign	Het
Vps9d1	T	C	8: 123,973,739 (GRCm39)	E348G	probably damaging	Het
Xrn2	T	C	2: 146,878,717 (GRCm39)		probably null	Het
Zfp36	A	G	7: 28,077,888 (GRCm39)	S7P	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
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
IGL02519:Dzip3	APN	16	48,748,759 (GRCm39)	missense	probably damaging	1.00
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

2014-01-21