Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03493:Dzip3'

490713

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 #

IGL03493

Quality Score

Status

Chromosome

Chromosomal Location

48744591-48814505 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48772059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 537 (I537V)

Ref Sequence

ENSEMBL: ENSMUSP00000113344 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000114516

SMART Domains

Protein: ENSMUSP00000110161
Gene: ENSMUSG00000064061

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: I537V

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113344
Gene: ENSMUSG00000064061
AA Change: I537V

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: ENSMUST00000133377

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldoart1	G	A	4: 72,769,884 (GRCm39)	T253I	probably damaging	Het
Ampd2	T	C	3: 107,982,674 (GRCm39)	E694G	probably damaging	Het
Atcay	C	A	10: 81,046,407 (GRCm39)	E306*	probably null	Het
Atp13a5	G	T	16: 29,116,342 (GRCm39)	D546E	probably benign	Het
C2cd2	T	C	16: 97,682,861 (GRCm39)	D125G	probably damaging	Het
Col23a1	T	C	11: 51,455,632 (GRCm39)		probably null	Het
Col9a1	T	A	1: 24,260,651 (GRCm39)		probably benign	Het
Cyp4a31	T	A	4: 115,427,952 (GRCm39)		probably null	Het
Dnah11	G	A	12: 117,976,533 (GRCm39)	R2708C	probably benign	Het
Ezh1	T	C	11: 101,094,617 (GRCm39)	T392A	probably benign	Het
Hsd17b14	A	T	7: 45,205,515 (GRCm39)	D42V	probably damaging	Het
Hsf2	A	T	10: 57,381,462 (GRCm39)	I294F	probably damaging	Het
Ibtk	G	T	9: 85,600,972 (GRCm39)	S797R	probably benign	Het
Kif20b	T	A	19: 34,936,950 (GRCm39)	C183*	probably null	Het
Lnpep	G	T	17: 17,799,433 (GRCm39)	A74E	probably damaging	Het
Map4k1	A	T	7: 28,683,576 (GRCm39)		probably benign	Het
Matn1	A	G	4: 130,677,309 (GRCm39)	R173G	probably benign	Het
Nyap1	A	G	5: 137,733,278 (GRCm39)	I585T	probably damaging	Het
Or13a27	A	T	7: 139,925,066 (GRCm39)	Y279N	probably damaging	Het
Or52e7	A	G	7: 104,685,151 (GRCm39)	T249A	probably damaging	Het
Or5d39	G	A	2: 87,980,280 (GRCm39)	P28S	probably benign	Het
Phactr2	A	G	10: 13,133,413 (GRCm39)	V190A	probably benign	Het
Podnl1	G	A	8: 84,858,818 (GRCm39)	V548I	probably benign	Het
Rad51c	A	T	11: 87,288,579 (GRCm39)	H201Q	probably benign	Het
Sec63	C	A	10: 42,704,937 (GRCm39)	D730E	probably benign	Het
Smarcc2	A	G	10: 128,297,226 (GRCm39)	I39M	probably damaging	Het
Trav2	A	G	14: 52,804,745 (GRCm39)		probably benign	Het
Ugt3a1	A	G	15: 9,361,569 (GRCm39)	Y115C	probably damaging	Het
Zfp955b	T	G	17: 33,521,519 (GRCm39)	H329Q	probably benign	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
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
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

2017-10-20