Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02115:Dzip3'

280330

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 #

IGL02115

Quality Score

Status

Chromosome

Chromosomal Location

48744591-48814505 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48768848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 629 (I629M)

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
AA Change: I423M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110161
Gene: ENSMUSG00000064061
AA Change: I423M

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: I629M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113344
Gene: ENSMUSG00000064061
AA Change: I629M

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	A	T	7: 124,930,781 (GRCm39)		noncoding transcript	Het
Abca7	A	T	10: 79,833,913 (GRCm39)	N76Y	probably damaging	Het
Apob	A	G	12: 8,042,923 (GRCm39)	K755R	probably benign	Het
BC034090	A	T	1: 155,108,397 (GRCm39)		probably benign	Het
Brinp1	T	C	4: 68,680,635 (GRCm39)	T632A	probably benign	Het
Cdcp1	C	A	9: 123,014,462 (GRCm39)	C104F	probably damaging	Het
Cfap206	C	T	4: 34,722,623 (GRCm39)	V153I	possibly damaging	Het
Chd1l	A	T	3: 97,497,220 (GRCm39)		probably null	Het
Ckb	A	G	12: 111,636,415 (GRCm39)	F271L	possibly damaging	Het
Col6a3	T	A	1: 90,735,373 (GRCm39)	I759L	probably damaging	Het
Ddr2	A	T	1: 169,822,278 (GRCm39)	M390K	probably benign	Het
Dhx8	C	T	11: 101,643,214 (GRCm39)	P762L	probably damaging	Het
Dnah3	A	T	7: 119,628,277 (GRCm39)	V1449E	probably damaging	Het
Ep300	T	C	15: 81,533,019 (GRCm39)	I1692T	unknown	Het
Ercc6	T	A	14: 32,298,950 (GRCm39)	L1446Q	probably damaging	Het
Gm10092	T	C	16: 35,957,993 (GRCm39)		noncoding transcript	Het
Gm6900	A	T	7: 10,390,503 (GRCm39)		noncoding transcript	Het
Gpr149	T	C	3: 62,502,336 (GRCm39)	T507A	probably benign	Het
Hmcn1	T	A	1: 150,506,479 (GRCm39)	D3776V	probably damaging	Het
Irgm2	A	G	11: 58,110,948 (GRCm39)	E225G	probably benign	Het
Kif14	T	C	1: 136,424,305 (GRCm39)		probably benign	Het
Klhl22	T	C	16: 17,594,459 (GRCm39)	V196A	probably damaging	Het
Lig4	T	C	8: 10,023,247 (GRCm39)	S178G	possibly damaging	Het
Lzts2	A	G	19: 45,014,809 (GRCm39)		probably benign	Het
Mcoln3	C	T	3: 145,843,056 (GRCm39)	S380L	probably damaging	Het
Med12l	A	T	3: 58,975,740 (GRCm39)	T223S	probably benign	Het
Mrpl54	A	G	10: 81,101,483 (GRCm39)		probably null	Het
Myo1c	A	T	11: 75,552,417 (GRCm39)	I397F	probably damaging	Het
Nbas	A	T	12: 13,367,693 (GRCm39)		probably benign	Het
Ncoa2	G	A	1: 13,223,041 (GRCm39)	H1195Y	probably damaging	Het
Nol3	A	G	8: 106,006,263 (GRCm39)	M171V	probably benign	Het
Or2l5	A	T	16: 19,333,853 (GRCm39)	C178S	probably damaging	Het
Or52s1	A	G	7: 102,861,681 (GRCm39)	T194A	probably damaging	Het
Pdpr	C	T	8: 111,830,630 (GRCm39)	L107F	probably damaging	Het
Ppfibp2	G	A	7: 107,338,525 (GRCm39)		probably benign	Het
Rusc2	T	C	4: 43,426,136 (GRCm39)		probably benign	Het
Sdk2	G	T	11: 113,725,639 (GRCm39)		probably benign	Het
Sema7a	T	C	9: 57,868,183 (GRCm39)	C539R	probably damaging	Het
Senp6	T	C	9: 80,029,208 (GRCm39)	C524R	probably damaging	Het
Setdb2	C	T	14: 59,639,764 (GRCm39)	R709Q	probably damaging	Het
Slc15a1	A	T	14: 121,718,073 (GRCm39)	Y269N	possibly damaging	Het
Synj2	T	A	17: 6,067,865 (GRCm39)	Y113N	probably damaging	Het
Tm6sf1	A	T	7: 81,525,551 (GRCm39)	Y172F	probably damaging	Het
Trpv4	T	C	5: 114,763,090 (GRCm39)	D773G	probably damaging	Het
Ttc39a	A	G	4: 109,283,491 (GRCm39)		probably benign	Het
Tut1	C	T	19: 8,942,676 (GRCm39)	R588W	probably damaging	Het
Unc79	A	T	12: 102,964,933 (GRCm39)	Y74F	probably damaging	Het
Usp53	A	T	3: 122,741,039 (GRCm39)	I737K	probably benign	Het
Vmn2r67	A	T	7: 84,800,787 (GRCm39)	M383K	probably damaging	Het
Zc3h4	A	G	7: 16,159,708 (GRCm39)	D426G	unknown	Het
Zfp622	A	G	15: 25,987,286 (GRCm39)	N308S	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
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

2015-04-16