Incidental Mutation 'IGL03342:Dzip3'
ID417252
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dzip3
Ensembl Gene ENSMUSG00000064061
Gene NameDAZ interacting protein 3, zinc finger
Synonyms2A-HUB, 6430549P11Rik, 2310047C04Rik
Accession Numbers

Genbank: NM_001110017.1, NM_027341.2; Ensembl: ENSMUST00000121869

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03342
Quality Score
Status
Chromosome16
Chromosomal Location48924232-48994165 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 48929623 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 1050 (Q1050K)
Ref Sequence ENSEMBL: ENSMUSP00000113344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114516] [ENSMUST00000121869]
Predicted Effect possibly damaging
Transcript: ENSMUST00000114516
AA Change: Q844K

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110161
Gene: ENSMUSG00000064061
AA Change: Q844K

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: Q1050K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113344
Gene: ENSMUSG00000064061
AA Change: Q1050K

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: ENSMUST00000123961
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147358
Predicted Effect probably damaging
Transcript: ENSMUST00000151950
AA Change: Q42K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117675
Gene: ENSMUSG00000064061
AA Change: Q42K

DomainStartEndE-ValueType
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G A 11: 110,287,691 T1152M possibly damaging Het
Abcg2 G T 6: 58,665,135 R136I probably damaging Het
Acap2 A G 16: 31,105,492 V641A probably damaging Het
Afg3l2 A T 18: 67,407,320 D706E probably benign Het
Bbs1 A T 19: 4,897,593 L311Q probably damaging Het
Cacna1e A G 1: 154,466,944 probably null Het
Car2 A T 3: 14,895,569 D129V probably benign Het
Catsper2 T C 2: 121,406,736 I228V probably damaging Het
Cdhr3 C A 12: 33,051,055 R452M probably benign Het
Chrm1 A T 19: 8,679,308 Q459L probably benign Het
Cnbd1 C T 4: 19,098,264 probably benign Het
Coa7 A G 4: 108,332,229 D42G probably damaging Het
Ctsz T C 2: 174,429,140 Y187C possibly damaging Het
Cxcr6 C T 9: 123,810,407 Q165* probably null Het
Cyp3a11 G A 5: 145,855,117 P489S probably damaging Het
Cyp4f15 A T 17: 32,697,936 I276F probably damaging Het
Dsg1b T A 18: 20,409,460 M1008K probably benign Het
Dsg4 T A 18: 20,451,823 I198N probably damaging Het
Dtymk C A 1: 93,794,819 E87D probably benign Het
Dysf T A 6: 84,190,872 D1749E probably benign Het
Echs1 C T 7: 140,110,113 probably benign Het
Enc1 T A 13: 97,246,470 I496N possibly damaging Het
Epc2 A T 2: 49,536,646 Y139F probably benign Het
Exo1 A T 1: 175,892,127 N246I probably benign Het
Flg2 A G 3: 93,201,235 K190R probably damaging Het
Gm5424 A T 10: 62,072,192 noncoding transcript Het
Gpbp1l1 A C 4: 116,574,543 T133P probably benign Het
Gpr155 A G 2: 73,349,678 F146S probably damaging Het
Grm1 T A 10: 11,079,971 I190L probably benign Het
Hif3a C T 7: 17,041,122 R515H possibly damaging Het
Kdm5b G A 1: 134,602,576 D442N probably benign Het
Manba A T 3: 135,517,987 I212F possibly damaging Het
Map3k13 A G 16: 21,892,231 E88G possibly damaging Het
Mapk7 A G 11: 61,491,390 L163P probably damaging Het
Med1 A T 11: 98,189,180 probably null Het
Mtrf1 T A 14: 79,415,872 probably null Het
Mtrf1 C T 14: 79,415,871 probably benign Het
Mtrf1 A G 14: 79,415,980 D365G possibly damaging Het
Myadm C T 7: 3,296,887 T55I possibly damaging Het
Nlgn1 A T 3: 26,133,262 I158N probably damaging Het
Nlrc4 A G 17: 74,445,318 L690P probably damaging Het
Nlrp1a A T 11: 71,122,791 D544E probably benign Het
Nlrp2 A T 7: 5,317,483 L20Q probably damaging Het
Olfr1053 A T 2: 86,315,235 I17N possibly damaging Het
Olfr1504 A G 19: 13,887,437 Y258H probably damaging Het
Olfr390 T A 11: 73,787,483 S182T probably benign Het
Padi3 G A 4: 140,810,598 Q4* probably null Het
Pfkl A T 10: 78,005,475 I13K possibly damaging Het
Pinx1 A G 14: 63,919,569 D315G probably benign Het
Prickle3 A G X: 7,663,496 D47G probably benign Het
Psmd10 A T X: 140,956,654 V5E probably damaging Het
Rasgrf2 C A 13: 91,987,979 V605F probably damaging Het
Smarca1 G T X: 47,892,269 A84D probably damaging Het
Sp2 A G 11: 96,961,762 V112A probably damaging Het
Srgap3 G A 6: 112,775,687 R279C probably damaging Het
Ssfa2 G A 2: 79,660,452 M971I probably damaging Het
Trav21-dv12 T C 14: 53,876,044 L10P unknown Het
Vmn1r236 A T 17: 21,286,974 H118L probably benign Het
Vmn2r120 A G 17: 57,509,372 M661T probably benign Het
Vmn2r17 A T 5: 109,427,916 I218F probably damaging Het
Vmn2r41 G T 7: 8,138,683 A594D probably damaging Het
Zc2hc1a A G 3: 7,524,223 E103G possibly damaging Het
Zfp62 G T 11: 49,215,471 G130* probably null Het
Other mutations in Dzip3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00825:Dzip3 APN 16 48928415 missense probably damaging 1.00
IGL00931:Dzip3 APN 16 48935497 critical splice donor site probably null
IGL01109:Dzip3 APN 16 48929674 missense probably benign 0.27
IGL01121:Dzip3 APN 16 48944881 missense probably benign 0.10
IGL01328:Dzip3 APN 16 48972258 missense probably damaging 1.00
IGL01729:Dzip3 APN 16 48928363 missense possibly damaging 0.78
IGL02044:Dzip3 APN 16 48948427 missense possibly damaging 0.90
IGL02051:Dzip3 APN 16 48972254 missense probably benign 0.01
IGL02115:Dzip3 APN 16 48948485 missense probably benign 0.00
IGL02125:Dzip3 APN 16 48927596 missense probably damaging 1.00
IGL02136:Dzip3 APN 16 48927582 missense possibly damaging 0.94
IGL02244:Dzip3 APN 16 48980988 missense probably benign 0.01
IGL02253:Dzip3 APN 16 48944924 missense probably benign 0.34
IGL02412:Dzip3 APN 16 48958457 missense probably benign 0.00
IGL02452:Dzip3 APN 16 48938537 splice site probably benign
IGL02481:Dzip3 APN 16 48975551 splice site probably benign
IGL02499:Dzip3 APN 16 48933850 missense probably damaging 1.00
IGL02511:Dzip3 APN 16 48936980 missense possibly damaging 0.75
IGL02519:Dzip3 APN 16 48928396 missense probably damaging 1.00
IGL02610:Dzip3 APN 16 48951653 missense probably damaging 1.00
IGL03129:Dzip3 APN 16 48942083 missense possibly damaging 0.51
IGL03493:Dzip3 APN 16 48951696 missense probably benign 0.32
dazwick UTSW 16 48958465 missense possibly damaging 0.90
1mM(1):Dzip3 UTSW 16 48951557 missense probably damaging 1.00
PIT4651001:Dzip3 UTSW 16 48944878 missense probably benign
R0313:Dzip3 UTSW 16 48937061 missense probably damaging 0.99
R0483:Dzip3 UTSW 16 48947713 missense possibly damaging 0.94
R0504:Dzip3 UTSW 16 48959643 splice site probably benign
R0744:Dzip3 UTSW 16 48959675 missense probably damaging 1.00
R0800:Dzip3 UTSW 16 48953808 splice site probably benign
R0927:Dzip3 UTSW 16 48975477 missense probably damaging 0.99
R0931:Dzip3 UTSW 16 48951558 missense probably damaging 1.00
R1170:Dzip3 UTSW 16 48961208 missense probably damaging 1.00
R1203:Dzip3 UTSW 16 48951817 missense probably damaging 1.00
R1205:Dzip3 UTSW 16 48951681 missense probably damaging 1.00
R1442:Dzip3 UTSW 16 48945622 missense probably benign 0.19
R1526:Dzip3 UTSW 16 48937006 missense probably damaging 1.00
R1560:Dzip3 UTSW 16 48951540 splice site probably null
R1585:Dzip3 UTSW 16 48977878 splice site probably benign
R1682:Dzip3 UTSW 16 48958417 critical splice donor site probably null
R1957:Dzip3 UTSW 16 48927593 missense probably damaging 1.00
R2472:Dzip3 UTSW 16 48953787 missense possibly damaging 0.85
R2571:Dzip3 UTSW 16 48972218 splice site probably null
R3040:Dzip3 UTSW 16 48928324 missense probably damaging 1.00
R3081:Dzip3 UTSW 16 48927558 missense probably damaging 1.00
R3615:Dzip3 UTSW 16 48937063 missense probably damaging 1.00
R3616:Dzip3 UTSW 16 48937063 missense probably damaging 1.00
R3786:Dzip3 UTSW 16 48975543 missense probably benign 0.08
R3851:Dzip3 UTSW 16 48950013 missense possibly damaging 0.94
R4097:Dzip3 UTSW 16 48958489 nonsense probably null
R4371:Dzip3 UTSW 16 48943455 critical splice donor site probably null
R4612:Dzip3 UTSW 16 48952040 nonsense probably null
R4671:Dzip3 UTSW 16 48979590 nonsense probably null
R4695:Dzip3 UTSW 16 48951561 missense probably damaging 1.00
R4696:Dzip3 UTSW 16 48925969 unclassified probably benign
R4769:Dzip3 UTSW 16 48938474 missense probably damaging 0.97
R5063:Dzip3 UTSW 16 48953754 nonsense probably null
R5321:Dzip3 UTSW 16 48957675 missense possibly damaging 0.95
R5764:Dzip3 UTSW 16 48927361 intron probably benign
R6020:Dzip3 UTSW 16 48951842 missense probably damaging 1.00
R6218:Dzip3 UTSW 16 48958465 missense possibly damaging 0.90
R6300:Dzip3 UTSW 16 48951807 missense probably damaging 1.00
R6365:Dzip3 UTSW 16 48931273 missense probably damaging 0.96
R6778:Dzip3 UTSW 16 48982083 missense probably benign 0.00
R6915:Dzip3 UTSW 16 48942125 missense possibly damaging 0.72
R7047:Dzip3 UTSW 16 48982126 missense probably benign 0.04
R7059:Dzip3 UTSW 16 48980942 missense probably benign 0.34
R7095:Dzip3 UTSW 16 48927790 missense probably benign
R7227:Dzip3 UTSW 16 48951569 missense probably damaging 0.99
R7319:Dzip3 UTSW 16 48927540 critical splice donor site probably null
R7436:Dzip3 UTSW 16 48951989 missense probably damaging 1.00
R7469:Dzip3 UTSW 16 48944879 missense probably benign
R7526:Dzip3 UTSW 16 48975474 missense probably damaging 0.99
R7964:Dzip3 UTSW 16 48951905 missense probably damaging 1.00
R8131:Dzip3 UTSW 16 48933793 critical splice donor site probably null
R8188:Dzip3 UTSW 16 48952136 missense probably damaging 1.00
R8209:Dzip3 UTSW 16 48977944 missense probably damaging 1.00
Posted On2016-08-02