Incidental Mutation 'R3615:Dzip3'
ID 473061
Institutional Source Beutler Lab
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 # R3615 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 48744591-48814505 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48757426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 869 (L869S)
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: L663S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110161
Gene: ENSMUSG00000064061
AA Change: L663S

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 damaging
Transcript: ENSMUST00000121869
AA Change: L869S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113344
Gene: ENSMUSG00000064061
AA Change: L869S

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: ENSMUST00000139350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147358
Meta Mutation Damage Score 0.2307 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 98% (40/41)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,535,257 (GRCm39) T818A probably benign Het
Aasdh A G 5: 77,036,629 (GRCm39) V304A probably benign Het
Angptl3 G A 4: 98,922,702 (GRCm39) A248T probably benign Het
Ap2b1 T A 11: 83,215,391 (GRCm39) C112S possibly damaging Het
Aqr A T 2: 113,967,368 (GRCm39) I549N probably damaging Het
Barhl1 C T 2: 28,801,562 (GRCm39) D161N possibly damaging Het
Col28a1 A G 6: 8,014,942 (GRCm39) V821A probably damaging Het
Dclk2 G A 3: 86,827,342 (GRCm39) P46S probably damaging Het
Dnah1 A G 14: 31,037,105 (GRCm39) L247P possibly damaging Het
Dpysl2 T A 14: 67,071,819 (GRCm39) H107L probably damaging Het
Efs T C 14: 55,157,552 (GRCm39) Y160C probably damaging Het
Enam A T 5: 88,652,306 (GRCm39) N1197Y possibly damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fam184b A G 5: 45,740,157 (GRCm39) V343A possibly damaging Het
Fbxw26 A T 9: 109,572,828 (GRCm39) Y105* probably null Het
Fiz1 A G 7: 5,011,171 (GRCm39) L449P probably benign Het
Foxi2 T A 7: 135,012,180 (GRCm39) C23S possibly damaging Het
Gdf2 G A 14: 33,666,914 (GRCm39) R212Q probably damaging Het
Gm5105 C A 3: 137,755,449 (GRCm39) A46S unknown Het
Grik5 C T 7: 24,721,996 (GRCm39) A581T probably benign Het
Gse1 C G 8: 121,299,481 (GRCm39) probably benign Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Krt25 A C 11: 99,208,124 (GRCm39) V368G possibly damaging Het
Lacc1 A G 14: 77,270,727 (GRCm39) V269A probably benign Het
Lamc1 T C 1: 153,126,896 (GRCm39) K417E probably damaging Het
Miip A G 4: 147,950,371 (GRCm39) M75T probably benign Het
Nlrp10 A G 7: 108,523,683 (GRCm39) F599S probably benign Het
Nlrp12 T A 7: 3,289,205 (GRCm39) M436L probably benign Het
Or4b13 T C 2: 90,082,753 (GRCm39) E193G possibly damaging Het
Pafah1b1 G A 11: 74,581,058 (GRCm39) S57F probably damaging Het
Pla2g2e G A 4: 138,607,685 (GRCm39) V22I probably benign Het
Plekhd1 A G 12: 80,764,044 (GRCm39) E202G probably damaging Het
Prss21 A G 17: 24,091,805 (GRCm39) T258A probably benign Het
Prss34 A G 17: 25,517,820 (GRCm39) E65G probably benign Het
Psap A G 10: 60,130,383 (GRCm39) N149S probably benign Het
Ptprf C T 4: 118,095,080 (GRCm39) A275T probably benign Het
Sem1 A G 6: 6,578,520 (GRCm39) L12P probably damaging Het
Sf3b3 A G 8: 111,571,155 (GRCm39) Y4H probably damaging Het
Sh3bp4 G T 1: 89,065,427 (GRCm39) R7L probably damaging Het
Slc16a1 T A 3: 104,560,886 (GRCm39) L397Q probably damaging Het
Smg5 A G 3: 88,243,758 (GRCm39) S10G possibly damaging Het
Spata31e5 T C 1: 28,815,656 (GRCm39) D792G probably benign Het
Spata31g1 A G 4: 42,971,864 (GRCm39) N399S probably benign Het
Tas2r102 C T 6: 132,739,781 (GRCm39) Q230* probably null Het
Tdo2 A G 3: 81,882,735 (GRCm39) Y13H possibly damaging Het
Tmem231 C T 8: 112,644,945 (GRCm39) R187H possibly damaging Het
Tmem30b A G 12: 73,592,353 (GRCm39) M254T probably damaging Het
Trpm1 G A 7: 63,893,318 (GRCm39) G1057R probably damaging Het
Tusc3 A T 8: 39,617,879 (GRCm39) K347N probably damaging Het
Usp36 C T 11: 118,167,585 (GRCm39) probably null Het
Vash2 T C 1: 190,702,616 (GRCm39) Y117C probably damaging Het
Vrk2 A G 11: 26,439,866 (GRCm39) I235T possibly damaging Het
Wdr20 A G 12: 110,760,373 (GRCm39) T420A probably benign 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
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
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
Predicted Primers
Posted On 2017-04-14