Incidental Mutation 'IGL01888:Dzank1'
ID 179195
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dzank1
Ensembl Gene ENSMUSG00000037259
Gene Name double zinc ribbon and ankyrin repeat domains 1
Synonyms 2810039F03Rik, 6330439K17Rik, Ankrd64
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01888
Quality Score
Status
Chromosome 2
Chromosomal Location 144312477-144369334 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 144318074 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081982] [ENSMUST00000163701]
AlphaFold Q8C008
Predicted Effect probably null
Transcript: ENSMUST00000081982
SMART Domains Protein: ENSMUSP00000080643
Gene: ENSMUSG00000037259

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 noncoding transcript
Transcript: ENSMUST00000149523
Predicted Effect probably null
Transcript: ENSMUST00000163701
SMART Domains Protein: ENSMUSP00000133177
Gene: ENSMUSG00000037259

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
Validation Efficiency
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T C 11: 105,859,770 (GRCm39) V101A probably benign Het
Ano5 A T 7: 51,216,048 (GRCm39) I342F probably benign Het
Arhgef10 C A 8: 15,012,577 (GRCm39) Y300* probably null Het
Caps2 A G 10: 112,018,965 (GRCm39) D210G probably damaging Het
Ccdc125 T C 13: 100,823,610 (GRCm39) probably benign Het
Colgalt1 T A 8: 72,070,318 (GRCm39) M200K probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Ist1 T C 8: 110,410,400 (GRCm39) probably benign Het
Or13d1 A G 4: 52,970,974 (GRCm39) M118V probably damaging Het
Pcm1 T A 8: 41,710,993 (GRCm39) Y88N probably damaging Het
Pikfyve G A 1: 65,262,799 (GRCm39) D497N probably damaging Het
Pkd1 T C 17: 24,804,789 (GRCm39) V3171A possibly damaging Het
Slc22a18 T A 7: 143,033,053 (GRCm39) V47D probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Swap70 A T 7: 109,879,841 (GRCm39) H541L probably damaging Het
Tmx3 G A 18: 90,546,045 (GRCm39) D209N probably benign Het
Tubgcp4 A G 2: 121,015,228 (GRCm39) H312R probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r97 A T 17: 19,149,286 (GRCm39) K225* probably null 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
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
R8192:Dzank1 UTSW 2 144,332,145 (GRCm39) missense probably benign 0.05
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
Posted On 2014-05-07