Incidental Mutation 'IGL02253:Dzip3'
ID 286489
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 # IGL02253
Quality Score
Status
Chromosome 16
Chromosomal Location 48744591-48814505 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 48765287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 476 (Y476N)
Ref Sequence ENSEMBL: ENSMUSP00000110161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114516] [ENSMUST00000121869]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083733
Predicted Effect probably benign
Transcript: ENSMUST00000114516
AA Change: Y476N

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000110161
Gene: ENSMUSG00000064061
AA Change: Y476N

DomainStartEndE-ValueType
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: Y682N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113344
Gene: ENSMUSG00000064061
AA Change: Y682N

DomainStartEndE-ValueType
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,807,182 (GRCm39) E76G probably benign Het
Adamtsl2 A T 2: 26,988,709 (GRCm39) T587S possibly damaging Het
Adgre4 T A 17: 56,067,573 (GRCm39) M9K probably benign Het
Aff2 T A X: 68,874,397 (GRCm39) V447E probably benign Het
Arhgef10l G T 4: 140,271,595 (GRCm39) S425* probably null Het
Cabcoco1 T C 10: 68,272,107 (GRCm39) probably null Het
Calcr T A 6: 3,707,523 (GRCm39) H259L probably benign Het
Cdc42bpa T A 1: 179,859,161 (GRCm39) probably benign Het
Cntnap5b C T 1: 100,091,936 (GRCm39) H540Y possibly damaging Het
Cyp2a22 A T 7: 26,637,662 (GRCm39) probably benign Het
Ddx3x T C X: 13,151,207 (GRCm39) probably benign Het
Dnajc11 T A 4: 152,034,976 (GRCm39) Y28* probably null Het
Dock11 T C X: 35,304,781 (GRCm39) F1472S probably damaging Het
Dusp18 T C 11: 3,847,576 (GRCm39) *189Q probably null Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Evc2 T A 5: 37,535,771 (GRCm39) probably benign Het
Fam151b A T 13: 92,614,435 (GRCm39) Y18N probably damaging Het
Gk5 T C 9: 96,019,824 (GRCm39) F120S probably damaging Het
Itprid2 A G 2: 79,490,788 (GRCm39) T969A probably damaging Het
Kcna3 T C 3: 106,944,727 (GRCm39) L330P probably damaging Het
Kctd20 A G 17: 29,180,460 (GRCm39) N7S probably benign Het
Kmt2b G T 7: 30,281,152 (GRCm39) R1276S probably damaging Het
Kmt2d C T 15: 98,756,056 (GRCm39) probably benign Het
L2hgdh G A 12: 69,752,534 (GRCm39) probably benign Het
Lifr T G 15: 7,220,085 (GRCm39) V905G probably damaging Het
Mcm3ap T A 10: 76,305,899 (GRCm39) V4E probably benign Het
Nrip3 A C 7: 109,360,951 (GRCm39) probably null Het
Nsun2 T G 13: 69,767,658 (GRCm39) V204G possibly damaging Het
Nup54 A G 5: 92,565,310 (GRCm39) probably null Het
Or5p69 T A 7: 107,967,261 (GRCm39) V188E possibly damaging Het
Or8c16 T A 9: 38,131,031 (GRCm39) M304K probably benign Het
Pdcl3 A G 1: 39,034,011 (GRCm39) D51G probably benign Het
Pdlim1 T C 19: 40,218,974 (GRCm39) E219G probably damaging Het
Pld4 A C 12: 112,733,141 (GRCm39) K239T probably damaging Het
Rgsl1 T C 1: 153,669,513 (GRCm39) Y291C probably damaging Het
Rnf213 C A 11: 119,331,476 (GRCm39) H2228Q probably benign Het
Rnf222 T A 11: 68,783,862 (GRCm39) I143N probably damaging Het
Sirt7 A G 11: 120,511,693 (GRCm39) I13T probably benign Het
Slfn10-ps A G 11: 82,919,890 (GRCm39) noncoding transcript Het
Slx4ip T C 2: 136,842,195 (GRCm39) probably null Het
Spata18 G T 5: 73,825,939 (GRCm39) S164I possibly damaging Het
Spmip2 C A 3: 79,356,741 (GRCm39) probably benign Het
Spmip2 C A 3: 79,356,742 (GRCm39) probably benign Het
Stk26 T C X: 49,975,565 (GRCm39) L212P probably damaging Het
Tmsb15a T C X: 134,620,451 (GRCm39) I56V probably benign Het
Tnrc6b T A 15: 80,760,742 (GRCm39) S150T probably damaging Het
Tubb3 T C 8: 124,147,559 (GRCm39) M164T probably benign Het
Zfp516 A G 18: 83,012,622 (GRCm39) D1125G probably benign Het
Zyg11a A C 4: 108,040,892 (GRCm39) V685G probably null Het
Other mutations in Dzip3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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