Incidental Mutation 'R7047:Dzip3'
ID 547389
Institutional Source Beutler Lab
Gene Symbol Dzip3
Ensembl Gene ENSMUSG00000064061
Gene Name DAZ interacting protein 3, zinc finger
Synonyms 2A-HUB, 2310047C04Rik, 6430549P11Rik
MMRRC Submission 045145-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7047 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 48744591-48814505 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 48802489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 13 (N13K)
Ref Sequence ENSEMBL: ENSMUSP00000110161 (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: N13K

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000110161
Gene: ENSMUSG00000064061
AA Change: N13K

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: N13K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000113344
Gene: ENSMUSG00000064061
AA Change: N13K

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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (53/54)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,382,131 (GRCm39) I1278N possibly damaging Het
Adcy5 T A 16: 35,087,585 (GRCm39) L482Q probably damaging Het
Adora2a A G 10: 75,162,145 (GRCm39) I95V probably damaging Het
Anapc1 A C 2: 128,457,350 (GRCm39) C1887G probably damaging Het
Arfgef2 T A 2: 166,693,865 (GRCm39) probably null Het
Capn11 G T 17: 45,949,622 (GRCm39) S448* probably null Het
Capn7 C T 14: 31,058,642 (GRCm39) probably benign Het
Cep55 T A 19: 38,048,539 (GRCm39) V65D possibly damaging Het
Col5a1 A G 2: 27,818,096 (GRCm39) K107R unknown Het
Dbh T A 2: 27,055,622 (GRCm39) I32N possibly damaging Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Emilin1 A G 5: 31,074,422 (GRCm39) N221S probably benign Het
Ext2 A G 2: 93,570,002 (GRCm39) F470L probably damaging Het
Filip1 T A 9: 79,760,916 (GRCm39) Q206L probably damaging Het
Garin1b T A 6: 29,323,809 (GRCm39) L178H probably damaging Het
Gpr63 G T 4: 25,007,320 (GRCm39) A15S probably benign Het
Grhl3 T C 4: 135,276,551 (GRCm39) probably null Het
Hspa5 C T 2: 34,663,204 (GRCm39) P127L probably damaging Het
Ift172 G T 5: 31,433,238 (GRCm39) Y193* probably null Het
Ints1 A C 5: 139,744,226 (GRCm39) L1512* probably null Het
Kat2b A G 17: 53,970,597 (GRCm39) Q661R probably benign Het
Kat6a A G 8: 23,428,554 (GRCm39) N1303S possibly damaging Het
L3mbtl4 G T 17: 68,768,561 (GRCm39) R223L probably benign Het
Maml2 T C 9: 13,532,177 (GRCm39) probably benign Het
Mixl1 A G 1: 180,524,183 (GRCm39) probably null Het
Mocs1 T C 17: 49,759,887 (GRCm39) probably null Het
Ms4a15 T G 19: 10,962,236 (GRCm39) N36T probably damaging Het
Msr1 G A 8: 40,095,657 (GRCm39) T2I possibly damaging Het
Nlgn1 A C 3: 25,490,199 (GRCm39) Y509* probably null Het
Nsmce1 C A 7: 125,090,606 (GRCm39) G4C probably benign Het
Or4c113 A T 2: 88,885,490 (GRCm39) F93L probably damaging Het
Or51v15-ps1 A G 7: 103,278,918 (GRCm39) V83A probably damaging Het
Pan3 G A 5: 147,483,175 (GRCm39) G452D probably damaging Het
Pcyox1 G T 6: 86,365,891 (GRCm39) P441H probably damaging Het
Phf12 T C 11: 77,904,099 (GRCm39) V273A probably damaging Het
Plcd4 A G 1: 74,591,148 (GRCm39) E181G possibly damaging Het
Ptgfr A T 3: 151,541,178 (GRCm39) I110N possibly damaging Het
Rab40c A C 17: 26,138,458 (GRCm39) V8G probably damaging Het
Rasal3 T A 17: 32,615,458 (GRCm39) Y460F probably damaging Het
Rhbdf2 A G 11: 116,494,477 (GRCm39) probably null Het
Ryr2 T A 13: 11,839,286 (GRCm39) N496Y possibly damaging Het
Sacs A T 14: 61,450,451 (GRCm39) I4166F probably damaging Het
Sh2d3c T C 2: 32,611,172 (GRCm39) M1T probably null Het
Smarca2 C T 19: 26,646,555 (GRCm39) S651L possibly damaging Het
Sned1 A T 1: 93,213,540 (GRCm39) R1204S possibly damaging Het
Spata31d1b T C 13: 59,860,249 (GRCm39) Y41H probably damaging Het
Stab2 C T 10: 86,694,016 (GRCm39) C2075Y probably damaging Het
Tcte1 A T 17: 45,844,294 (GRCm39) Q90L possibly damaging Het
Tll2 C T 19: 41,074,679 (GRCm39) G945S probably damaging Het
Tmbim7 A T 5: 3,720,112 (GRCm39) T116S probably benign Het
Tnfrsf19 A T 14: 61,242,667 (GRCm39) C72* probably null Het
Usp17le T A 7: 104,417,640 (GRCm39) T501S probably benign Het
Wnt5b T A 6: 119,425,217 (GRCm39) 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
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
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 PCR Primer
(F):5'- AGGTGAGTTATGCCCAAAATTG -3'
(R):5'- TTCTCTACCATCATCAAGCAAGAG -3'

Sequencing Primer
(F):5'- CACTTTTTCAGAAAGTGACTTAG -3'
(R):5'- GCAAGAGCTTAGTATAACTGTTCTC -3'
Posted On 2019-05-13