Incidental Mutation 'R8192:Dzank1'
ID 635200
Institutional Source Beutler Lab
Gene Symbol Dzank1
Ensembl Gene ENSMUSG00000037259
Gene Name double zinc ribbon and ankyrin repeat domains 1
Synonyms 2810039F03Rik, 6330439K17Rik, Ankrd64
MMRRC Submission 067615-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8192 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 144312477-144369334 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144332145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 397 (H397R)
Ref Sequence ENSEMBL: ENSMUSP00000080643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081982] [ENSMUST00000163701]
AlphaFold Q8C008
Predicted Effect probably benign
Transcript: ENSMUST00000081982
AA Change: H397R

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000080643
Gene: ENSMUSG00000037259
AA Change: H397R

DomainStartEndE-ValueType
Pfam:CHB_HEX_C 11 99 1.1e-16 PFAM
Pfam:CHB_HEX_C_1 20 97 4.5e-18 PFAM
Pfam:Fn3_assoc 32 100 1.6e-17 PFAM
ZnF_RBZ 268 292 5.44e0 SMART
ZnF_RBZ 307 331 2.55e0 SMART
Blast:ZnF_RBZ 355 378 1e-7 BLAST
ZnF_RBZ 385 409 3.13e0 SMART
low complexity region 591 604 N/A INTRINSIC
ANK 631 662 2.97e2 SMART
ANK 666 695 2.83e0 SMART
Blast:ANK 700 731 7e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000163701
AA Change: H398R

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000133177
Gene: ENSMUSG00000037259
AA Change: H398R

DomainStartEndE-ValueType
Pfam:CHB_HEX_C 12 99 1.5e-17 PFAM
Pfam:CHB_HEX_C_1 21 97 8.5e-17 PFAM
Pfam:Fn3_assoc 32 100 3.7e-18 PFAM
ZnF_RBZ 269 293 5.44e0 SMART
ZnF_RBZ 308 332 2.55e0 SMART
Blast:ZnF_RBZ 356 379 1e-7 BLAST
ZnF_RBZ 386 410 3.13e0 SMART
low complexity region 592 605 N/A INTRINSIC
ANK 632 663 2.97e2 SMART
ANK 667 696 2.83e0 SMART
Blast:ANK 701 732 7e-12 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (64/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene contains two ankyrin repeat-encoding regions. Ankyrin repeats are tandemly repeated modules of about 33 amino acids described as L-shaped structures consisting of a beta-hairpin and two alpha-helices. Ankyrin repeats occur in a large number of functionally diverse proteins, mainly from eukaryotes, and are known to function as protein-protein interaction domains. Alternative splicing has been observed for this gene but the full-length nature of additional variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A T 8: 44,103,970 (GRCm39) D558E probably damaging Het
Alox15 T A 11: 70,241,736 (GRCm39) E48D probably benign Het
Alyref T C 11: 120,488,522 (GRCm39) E102G probably benign Het
Bach2 A G 4: 32,562,294 (GRCm39) S254G probably benign Het
Bcl2l13 A G 6: 120,853,267 (GRCm39) E184G possibly damaging Het
Best1 T A 19: 9,963,664 (GRCm39) I506F possibly damaging Het
Cd177 T A 7: 24,453,727 (GRCm39) D388V probably benign Het
Cep350 T C 1: 155,816,529 (GRCm39) K329E possibly damaging Het
Clasrp T C 7: 19,329,387 (GRCm39) N65S possibly damaging Het
Cobl T C 11: 12,199,745 (GRCm39) R1301G probably benign Het
Cul9 T C 17: 46,849,273 (GRCm39) E624G probably benign Het
Cyp21a1 A T 17: 35,022,633 (GRCm39) Y109N probably damaging Het
Dbf4 A G 5: 8,448,134 (GRCm39) S359P probably benign Het
Ddx60 A G 8: 62,431,002 (GRCm39) T846A probably damaging Het
Dnah11 A G 12: 117,976,181 (GRCm39) V2746A probably benign Het
Dnah12 G A 14: 26,428,036 (GRCm39) A221T probably benign Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
Dock2 A G 11: 34,623,166 (GRCm39) probably null Het
Dpy19l1 T C 9: 24,362,023 (GRCm39) I119V possibly damaging Het
Dsg1c A G 18: 20,399,255 (GRCm39) T120A probably damaging Het
Gaa G T 11: 119,161,235 (GRCm39) A93S possibly damaging Het
Galnt4 G A 10: 98,945,118 (GRCm39) R281H probably benign Het
Gm3250 T C 10: 77,618,291 (GRCm39) E29G unknown Het
H13 T G 2: 152,511,522 (GRCm39) D7E probably benign Het
H60c T A 10: 3,209,781 (GRCm39) I140F probably benign Het
Hsd3b2 T C 3: 98,620,908 (GRCm39) N49S probably benign Het
Klhl11 G T 11: 100,354,922 (GRCm39) P300T probably benign Het
Knop1 C A 7: 118,452,369 (GRCm39) V117L Het
Lgalsl2 T A 7: 5,362,595 (GRCm39) D75E possibly damaging Het
Lrrc38 G A 4: 143,077,303 (GRCm39) G189R probably damaging Het
Lrrc9 A T 12: 72,496,163 (GRCm39) I13F probably damaging Het
Macf1 A G 4: 123,334,390 (GRCm39) S4456P probably damaging Het
Mkrn1 A T 6: 39,376,289 (GRCm39) V439D probably damaging Het
Muc2 T A 7: 141,305,215 (GRCm39) V612D Het
Nrxn3 A G 12: 90,171,569 (GRCm39) N967D probably benign Het
Oprm1 C T 10: 6,788,417 (GRCm39) P391S probably benign Het
Or10g7 T A 9: 39,905,467 (GRCm39) D120E probably damaging Het
Or5d43 A C 2: 88,105,288 (GRCm39) V35G probably damaging Het
Parp14 T A 16: 35,691,584 (GRCm39) E47V probably benign Het
Pikfyve A G 1: 65,285,554 (GRCm39) E931G possibly damaging Het
Plcz1 A T 6: 139,968,986 (GRCm39) C151S probably damaging Het
Pramel20 T G 4: 143,298,530 (GRCm39) Y158D probably benign Het
Pramel27 G A 4: 143,578,109 (GRCm39) W123* probably null Het
Rbm26 A G 14: 105,380,125 (GRCm39) probably null Het
Rffl G T 11: 82,703,549 (GRCm39) probably null Het
Sc5d T C 9: 42,171,094 (GRCm39) I32V probably benign Het
Scube1 A G 15: 83,513,583 (GRCm39) probably null Het
Shld2 A T 14: 33,967,173 (GRCm39) S680T probably benign Het
Slc12a6 A G 2: 112,181,722 (GRCm39) Y714C probably damaging Het
Slc26a3 A G 12: 31,518,541 (GRCm39) I670V probably benign Het
Slc8a3 A T 12: 81,246,455 (GRCm39) V866D probably damaging Het
Slco3a1 A T 7: 73,970,338 (GRCm39) M423K probably benign Het
Smc6 A G 12: 11,349,336 (GRCm39) E773G probably benign Het
Son A G 16: 91,452,437 (GRCm39) T395A possibly damaging Het
Ss18l1 T C 2: 179,701,155 (GRCm39) S290P probably damaging Het
Tcof1 A C 18: 60,976,375 (GRCm39) V78G probably damaging Het
Thsd1 G A 8: 22,733,918 (GRCm39) V322M probably benign Het
Tln2 A T 9: 67,253,811 (GRCm39) C753* probably null Het
Trav6n-6 T A 14: 53,370,497 (GRCm39) F83I probably damaging Het
Ttc39d A G 17: 80,524,007 (GRCm39) H222R probably damaging Het
Ugt2b35 T A 5: 87,149,302 (GRCm39) S184R probably damaging Het
Upf1 A G 8: 70,793,294 (GRCm39) L288P probably benign Het
Zfp442 T C 2: 150,250,629 (GRCm39) I424M unknown Het
Zfp580 T C 7: 5,056,114 (GRCm39) V100A probably benign Het
Zfpm1 C A 8: 123,058,833 (GRCm39) P151Q probably damaging Het
Zfr2 C T 10: 81,078,649 (GRCm39) P294S possibly damaging Het
Other mutations in Dzank1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Dzank1 APN 2 144,323,645 (GRCm39) nonsense probably null
IGL00955:Dzank1 APN 2 144,332,094 (GRCm39) missense probably benign 0.22
IGL01888:Dzank1 APN 2 144,318,074 (GRCm39) splice site probably null
IGL02108:Dzank1 APN 2 144,348,143 (GRCm39) missense probably benign 0.02
IGL02979:Dzank1 APN 2 144,330,658 (GRCm39) missense probably damaging 1.00
BB008:Dzank1 UTSW 2 144,323,614 (GRCm39) missense probably benign 0.00
BB018:Dzank1 UTSW 2 144,323,614 (GRCm39) missense probably benign 0.00
PIT4466001:Dzank1 UTSW 2 144,325,293 (GRCm39) missense probably benign 0.00
R0388:Dzank1 UTSW 2 144,318,026 (GRCm39) missense possibly damaging 0.86
R0603:Dzank1 UTSW 2 144,353,432 (GRCm39) missense probably benign 0.04
R1052:Dzank1 UTSW 2 144,355,365 (GRCm39) missense probably benign
R1386:Dzank1 UTSW 2 144,333,751 (GRCm39) missense probably benign 0.05
R1529:Dzank1 UTSW 2 144,324,108 (GRCm39) missense probably benign 0.01
R1634:Dzank1 UTSW 2 144,323,589 (GRCm39) missense probably benign 0.01
R2761:Dzank1 UTSW 2 144,355,369 (GRCm39) missense probably benign
R4024:Dzank1 UTSW 2 144,324,147 (GRCm39) missense probably benign
R4279:Dzank1 UTSW 2 144,333,765 (GRCm39) missense probably benign 0.00
R4324:Dzank1 UTSW 2 144,330,618 (GRCm39) missense possibly damaging 0.95
R4516:Dzank1 UTSW 2 144,352,042 (GRCm39) intron probably benign
R4713:Dzank1 UTSW 2 144,333,724 (GRCm39) missense probably benign 0.13
R4782:Dzank1 UTSW 2 144,346,319 (GRCm39) missense probably damaging 1.00
R4994:Dzank1 UTSW 2 144,364,486 (GRCm39) missense probably damaging 1.00
R5157:Dzank1 UTSW 2 144,325,332 (GRCm39) missense probably damaging 0.98
R5514:Dzank1 UTSW 2 144,323,605 (GRCm39) missense probably benign 0.01
R5580:Dzank1 UTSW 2 144,348,098 (GRCm39) missense probably damaging 1.00
R5635:Dzank1 UTSW 2 144,325,327 (GRCm39) missense probably damaging 1.00
R5793:Dzank1 UTSW 2 144,348,144 (GRCm39) missense probably benign 0.14
R5820:Dzank1 UTSW 2 144,355,408 (GRCm39) missense probably damaging 1.00
R5976:Dzank1 UTSW 2 144,343,409 (GRCm39) missense probably damaging 1.00
R6935:Dzank1 UTSW 2 144,318,014 (GRCm39) missense possibly damaging 0.64
R6980:Dzank1 UTSW 2 144,332,056 (GRCm39) missense possibly damaging 0.87
R7331:Dzank1 UTSW 2 144,332,190 (GRCm39) missense probably benign 0.17
R7691:Dzank1 UTSW 2 144,348,091 (GRCm39) missense probably damaging 1.00
R7814:Dzank1 UTSW 2 144,364,484 (GRCm39) missense probably damaging 1.00
R7879:Dzank1 UTSW 2 144,333,718 (GRCm39) missense probably benign 0.01
R7931:Dzank1 UTSW 2 144,323,614 (GRCm39) missense probably benign 0.00
R8127:Dzank1 UTSW 2 144,330,736 (GRCm39) missense probably damaging 1.00
R8314:Dzank1 UTSW 2 144,344,878 (GRCm39) missense probably damaging 1.00
R8944:Dzank1 UTSW 2 144,333,729 (GRCm39) missense probably benign 0.00
R9025:Dzank1 UTSW 2 144,318,012 (GRCm39) missense probably benign 0.04
R9096:Dzank1 UTSW 2 144,316,882 (GRCm39) missense possibly damaging 0.62
R9097:Dzank1 UTSW 2 144,316,882 (GRCm39) missense possibly damaging 0.62
R9108:Dzank1 UTSW 2 144,364,391 (GRCm39) missense probably benign 0.00
R9261:Dzank1 UTSW 2 144,355,344 (GRCm39) missense probably benign 0.20
R9410:Dzank1 UTSW 2 144,324,050 (GRCm39) critical splice donor site probably null
R9418:Dzank1 UTSW 2 144,355,408 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCTTGGGCTGATTCACAGG -3'
(R):5'- AGCCTGGGTAAGCTATGTTTC -3'

Sequencing Primer
(F):5'- GCTGATTCACAGGGCACAC -3'
(R):5'- TCTGAGGGAGAGCTATTAGGTCAGC -3'
Posted On 2020-07-13