Incidental Mutation 'R5321:Dzip3'
ID 406123
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 042904-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5321 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 48744591-48814505 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 48778038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 349 (T349P)
Ref Sequence ENSEMBL: ENSMUSP00000110161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114516] [ENSMUST00000121869]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000114516
AA Change: T349P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110161
Gene: ENSMUSG00000064061
AA Change: T349P

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 possibly damaging
Transcript: ENSMUST00000121869
AA Change: T349P

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113344
Gene: ENSMUSG00000064061
AA Change: T349P

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
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,218,651 (GRCm39) F72L probably benign Het
Btrc G A 19: 45,496,197 (GRCm39) V211M probably damaging Het
Col6a5 A T 9: 105,805,664 (GRCm39) Y1081N unknown Het
Cryzl1 T C 16: 91,504,118 (GRCm39) Y109C probably benign Het
Dlec1 T A 9: 118,941,669 (GRCm39) S352T probably benign Het
Endou A G 15: 97,618,913 (GRCm39) V37A probably damaging Het
Exosc1 A T 19: 41,912,499 (GRCm39) C129* probably null Het
Flywch1 C G 17: 23,975,625 (GRCm39) R539P probably damaging Het
Gm14410 G A 2: 176,885,298 (GRCm39) T322I probably damaging Het
Lcor G T 19: 41,573,643 (GRCm39) W799C probably damaging Het
Lpin2 G A 17: 71,553,853 (GRCm39) V857M probably damaging Het
Or52ae9 T C 7: 103,389,862 (GRCm39) N195S probably damaging Het
Patl1 A G 19: 11,898,785 (GRCm39) Q160R probably damaging Het
Phtf1 C T 3: 103,910,827 (GRCm39) T606I probably benign Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Scrt1 T C 15: 76,403,370 (GRCm39) S207G unknown Het
Slc15a5 G T 6: 137,964,436 (GRCm39) N496K probably benign Het
Slc34a1 A T 13: 23,996,614 (GRCm39) I40F possibly damaging Het
Tdrd12 A C 7: 35,177,519 (GRCm39) V945G probably damaging Het
Tdrkh C A 3: 94,332,965 (GRCm39) L169I probably damaging Het
Tmem59l A G 8: 70,939,865 (GRCm39) C35R probably damaging Het
Tpte A T 8: 22,787,219 (GRCm39) R33* probably null Het
Trpv2 T A 11: 62,475,397 (GRCm39) L270H probably damaging Het
Utp18 A G 11: 93,757,260 (GRCm39) L468P probably damaging Het
Uxs1 A G 1: 43,844,805 (GRCm39) I51T probably damaging Het
Vmn1r20 C T 6: 57,409,427 (GRCm39) S251L probably benign Het
Vmn1r24 A T 6: 57,933,182 (GRCm39) L112* probably null Het
Vmn1r5 T C 6: 56,962,592 (GRCm39) L89P probably damaging Het
Vmn2r10 G T 5: 109,143,505 (GRCm39) A815E probably damaging Het
Zfp119a A T 17: 56,172,595 (GRCm39) L416H probably damaging 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
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 PCR Primer
(F):5'- GGGGATCAAATGAGAACTCTCTGTG -3'
(R):5'- TCCTAATGCCTGTCTAATGATGC -3'

Sequencing Primer
(F):5'- CTGTGATACTTTTTCATACCAGACAC -3'
(R):5'- CTAATGCCTGTCTAATGATGCATATC -3'
Posted On 2016-07-22