Incidental Mutation 'R9598:Zfr'
ID 723413
Institutional Source Beutler Lab
Gene Symbol Zfr
Ensembl Gene ENSMUSG00000022201
Gene Name zinc finger RNA binding protein
Synonyms C920030H05Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9598 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 12117917-12185769 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12162292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 814 (E814G)
Ref Sequence ENSEMBL: ENSMUSP00000118911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122941]
AlphaFold O88532
Predicted Effect probably damaging
Transcript: ENSMUST00000122941
AA Change: E814G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118911
Gene: ENSMUSG00000022201
AA Change: E814G

DomainStartEndE-ValueType
low complexity region 69 116 N/A INTRINSIC
low complexity region 159 182 N/A INTRINSIC
low complexity region 196 224 N/A INTRINSIC
low complexity region 229 302 N/A INTRINSIC
ZnF_U1 328 362 7.79e-6 SMART
ZnF_C2H2 331 355 4.94e0 SMART
ZnF_U1 379 413 1.84e-7 SMART
ZnF_C2H2 382 406 4.65e-1 SMART
low complexity region 429 448 N/A INTRINSIC
low complexity region 468 483 N/A INTRINSIC
ZnF_U1 579 613 2.01e-8 SMART
ZnF_C2H2 582 606 1.31e0 SMART
low complexity region 630 664 N/A INTRINSIC
low complexity region 685 719 N/A INTRINSIC
low complexity region 766 782 N/A INTRINSIC
DZF 784 1038 5.42e-170 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155054
SMART Domains Protein: ENSMUSP00000114992
Gene: ENSMUSG00000022201

DomainStartEndE-ValueType
low complexity region 19 53 N/A INTRINSIC
PDB:4ATB|D 56 94 6e-11 PDB
low complexity region 100 114 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000119251
Gene: ENSMUSG00000022201
AA Change: E86G

DomainStartEndE-ValueType
low complexity region 34 52 N/A INTRINSIC
DZF 57 299 1.79e-152 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000157034
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA-binding protein characterized by its DZF (domain associated with zinc fingers) domain. The encoded protein may play a role in the nucleocytoplasmic shuttling of another RNA-binding protein, Staufen homolog 2, in neurons. Expression of this gene is regulated through alternative polyadenylation that mediates differential microRNA targeting. Elevated expression of this gene has been observed in human patients with pancreatic cancer and knockdown of this gene may result in reduced viability and invasion of pancreatic cancer cells. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired gastrulation, with increased apoptosis and a low mitotic index, and die between embryonic days 8 and 9. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,088,604 (GRCm39) I302V probably benign Het
Ackr2 A C 9: 121,737,657 (GRCm39) T11P possibly damaging Het
Ahnak A G 19: 8,981,149 (GRCm39) N811S probably benign Het
Atm T C 9: 53,431,381 (GRCm39) I326V probably benign Het
Ccn4 T A 15: 66,784,764 (GRCm39) C146S possibly damaging Het
Cdh23 A T 10: 60,214,574 (GRCm39) F1480L probably benign Het
Celsr2 T C 3: 108,322,578 (GRCm39) E78G possibly damaging Het
Ces1f A T 8: 93,983,494 (GRCm39) N504K probably benign Het
Chrna4 G A 2: 180,679,264 (GRCm39) S61L probably damaging Het
Clcn3 G T 8: 61,366,061 (GRCm39) T864K unknown Het
Cym A C 3: 107,126,941 (GRCm39) D71E possibly damaging Het
Ddx19b T C 8: 111,747,673 (GRCm39) D87G probably benign Het
Dnah7b T C 1: 46,292,621 (GRCm39) V3002A possibly damaging Het
Dnmt3a G A 12: 3,946,997 (GRCm39) G408S probably benign Het
Dock10 A T 1: 80,625,939 (GRCm39) D66E probably benign Het
Dsg3 A G 18: 20,672,789 (GRCm39) D820G probably damaging Het
Dst G A 1: 34,153,014 (GRCm39) V92I possibly damaging Het
Dusp16 T A 6: 134,695,185 (GRCm39) T549S probably benign Het
Ephx1 T A 1: 180,827,381 (GRCm39) K91* probably null Het
Flii A G 11: 60,617,991 (GRCm39) F9L probably benign Het
Fmn2 T C 1: 174,436,308 (GRCm39) S760P unknown Het
Fmnl3 A T 15: 99,223,210 (GRCm39) V378E probably damaging Het
Gbp4 A G 5: 105,284,740 (GRCm39) S50P probably damaging Het
Glra3 G T 8: 56,393,718 (GRCm39) probably benign Het
Gm10188 T C 1: 132,157,033 (GRCm39) D111G unknown Het
Gnptab A T 10: 88,247,876 (GRCm39) E101V probably damaging Het
Hacl1 C A 14: 31,332,197 (GRCm39) M525I probably benign Het
Hid1 T A 11: 115,239,738 (GRCm39) T731S probably damaging Het
Ifi203 T C 1: 173,751,522 (GRCm39) Y847C probably damaging Het
Igfbpl1 C A 4: 45,815,472 (GRCm39) L221F probably null Het
Ighv1-12 A G 12: 114,579,757 (GRCm39) Y22H probably benign Het
Inpp5f A C 7: 128,278,515 (GRCm39) D435A possibly damaging Het
L3mbtl4 T A 17: 68,866,767 (GRCm39) H335Q probably benign Het
Mapre2 A G 18: 24,016,707 (GRCm39) D287G probably benign Het
Mfsd14b G A 13: 65,214,522 (GRCm39) R477W probably benign Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Msh4 A T 3: 153,607,148 (GRCm39) S131T possibly damaging Het
Nat8f2 A T 6: 85,844,848 (GRCm39) D171E probably benign Het
Ndufb5 G T 3: 32,795,881 (GRCm39) L24F probably benign Het
Nkain2 T C 10: 32,278,291 (GRCm39) I45V probably damaging Het
Nlrp9b T G 7: 19,753,302 (GRCm39) M69R probably benign Het
Or4k37 A T 2: 111,159,633 (GRCm39) R290* probably null Het
Or5d39 A C 2: 87,979,935 (GRCm39) C143G probably damaging Het
Or5d46 A T 2: 88,170,821 (GRCm39) K304I possibly damaging Het
Oxct2b T A 4: 123,010,413 (GRCm39) V111E possibly damaging Het
Parva T A 7: 112,187,753 (GRCm39) V350D probably damaging Het
Pcdhb7 A G 18: 37,475,434 (GRCm39) D190G probably damaging Het
Pik3c2b T C 1: 133,012,725 (GRCm39) probably null Het
Plcz1 T A 6: 139,985,484 (GRCm39) Q19L possibly damaging Het
Prag1 A G 8: 36,571,069 (GRCm39) N551D probably benign Het
Rb1cc1 G A 1: 6,310,189 (GRCm39) V196I probably damaging Het
Rnf113a2 T C 12: 84,464,270 (GRCm39) V54A probably benign Het
Sec14l1 G A 11: 117,044,102 (GRCm39) E537K probably damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Shtn1 T A 19: 59,026,735 (GRCm39) I119F probably damaging Het
Szt2 A G 4: 118,266,358 (GRCm39) probably null Het
Tasp1 T C 2: 139,819,567 (GRCm39) D212G probably benign Het
Tmpo A G 10: 90,994,608 (GRCm39) probably null Het
Usp17lb T C 7: 104,489,718 (GRCm39) K403R probably benign Het
Vcpip1 A G 1: 9,816,019 (GRCm39) V788A probably benign Het
Wdr25 C A 12: 108,864,613 (GRCm39) H253N probably benign Het
Wwc2 G A 8: 48,328,360 (GRCm39) S367L probably damaging Het
Other mutations in Zfr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01637:Zfr APN 15 12,159,732 (GRCm39) missense probably benign 0.26
IGL01759:Zfr APN 15 12,159,741 (GRCm39) missense probably damaging 0.99
IGL01935:Zfr APN 15 12,180,798 (GRCm39) missense probably benign 0.42
IGL02056:Zfr APN 15 12,154,533 (GRCm39) missense probably damaging 1.00
IGL03009:Zfr APN 15 12,162,321 (GRCm39) missense probably damaging 1.00
IGL03147:Zfr UTSW 15 12,140,638 (GRCm39) nonsense probably null
PIT4504001:Zfr UTSW 15 12,166,244 (GRCm39) missense possibly damaging 0.48
R0377:Zfr UTSW 15 12,160,677 (GRCm39) missense probably benign 0.02
R0678:Zfr UTSW 15 12,184,171 (GRCm39) missense probably damaging 1.00
R0783:Zfr UTSW 15 12,162,268 (GRCm39) missense probably damaging 1.00
R0787:Zfr UTSW 15 12,140,634 (GRCm39) missense unknown
R1464:Zfr UTSW 15 12,146,458 (GRCm39) missense probably damaging 1.00
R1464:Zfr UTSW 15 12,146,458 (GRCm39) missense probably damaging 1.00
R1538:Zfr UTSW 15 12,150,329 (GRCm39) missense possibly damaging 0.61
R1558:Zfr UTSW 15 12,140,730 (GRCm39) missense unknown
R1619:Zfr UTSW 15 12,150,473 (GRCm39) missense possibly damaging 0.52
R1924:Zfr UTSW 15 12,160,715 (GRCm39) missense possibly damaging 0.74
R2163:Zfr UTSW 15 12,162,309 (GRCm39) missense probably damaging 1.00
R2958:Zfr UTSW 15 12,162,319 (GRCm39) missense probably benign 0.08
R2960:Zfr UTSW 15 12,162,319 (GRCm39) missense probably benign 0.08
R2961:Zfr UTSW 15 12,162,319 (GRCm39) missense probably benign 0.08
R2962:Zfr UTSW 15 12,162,319 (GRCm39) missense probably benign 0.08
R2963:Zfr UTSW 15 12,162,319 (GRCm39) missense probably benign 0.08
R3012:Zfr UTSW 15 12,166,249 (GRCm39) missense probably damaging 1.00
R3054:Zfr UTSW 15 12,154,593 (GRCm39) missense probably damaging 1.00
R3429:Zfr UTSW 15 12,153,006 (GRCm39) missense probably benign 0.00
R3611:Zfr UTSW 15 12,159,848 (GRCm39) critical splice donor site probably null
R3825:Zfr UTSW 15 12,166,277 (GRCm39) missense probably damaging 1.00
R3882:Zfr UTSW 15 12,162,319 (GRCm39) missense probably benign 0.08
R4080:Zfr UTSW 15 12,162,319 (GRCm39) missense probably benign 0.08
R4241:Zfr UTSW 15 12,149,745 (GRCm39) missense probably damaging 1.00
R4366:Zfr UTSW 15 12,156,416 (GRCm39) missense probably damaging 0.99
R4375:Zfr UTSW 15 12,118,426 (GRCm39) critical splice donor site probably null
R4893:Zfr UTSW 15 12,136,628 (GRCm39) missense unknown
R4899:Zfr UTSW 15 12,166,231 (GRCm39) missense probably benign 0.11
R4915:Zfr UTSW 15 12,162,198 (GRCm39) critical splice acceptor site probably null
R5870:Zfr UTSW 15 12,160,701 (GRCm39) missense probably damaging 1.00
R6162:Zfr UTSW 15 12,146,331 (GRCm39) missense unknown
R6163:Zfr UTSW 15 12,146,331 (GRCm39) missense unknown
R6165:Zfr UTSW 15 12,146,331 (GRCm39) missense unknown
R6187:Zfr UTSW 15 12,146,317 (GRCm39) small deletion probably benign
R6251:Zfr UTSW 15 12,160,677 (GRCm39) missense probably benign 0.02
R6903:Zfr UTSW 15 12,136,541 (GRCm39) missense unknown
R6959:Zfr UTSW 15 12,150,409 (GRCm39) missense probably damaging 1.00
R7133:Zfr UTSW 15 12,180,724 (GRCm39) missense probably damaging 1.00
R7167:Zfr UTSW 15 12,181,015 (GRCm39) missense probably benign 0.01
R7212:Zfr UTSW 15 12,146,309 (GRCm39) nonsense probably null
R7373:Zfr UTSW 15 12,140,645 (GRCm39) missense unknown
R7489:Zfr UTSW 15 12,153,068 (GRCm39) missense probably benign 0.24
R7602:Zfr UTSW 15 12,159,763 (GRCm39) missense possibly damaging 0.56
R7623:Zfr UTSW 15 12,160,614 (GRCm39) missense possibly damaging 0.83
R7896:Zfr UTSW 15 12,146,463 (GRCm39) missense probably damaging 1.00
R8188:Zfr UTSW 15 12,171,904 (GRCm39) missense probably damaging 1.00
R8289:Zfr UTSW 15 12,135,357 (GRCm39) missense noncoding transcript
R8382:Zfr UTSW 15 12,153,054 (GRCm39) nonsense probably null
R8475:Zfr UTSW 15 12,150,455 (GRCm39) missense probably benign 0.08
R9124:Zfr UTSW 15 12,136,757 (GRCm39) missense unknown
R9493:Zfr UTSW 15 12,180,706 (GRCm39) critical splice acceptor site probably null
R9631:Zfr UTSW 15 12,154,628 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GACATATAGTCTGTCGGTGTAATTG -3'
(R):5'- CCTTTTCATTATAGAAAGCCAAGCCC -3'

Sequencing Primer
(F):5'- GATTTTGCTGCAGAGCTCT -3'
(R):5'- CCCAAAATTAAAAGGCAGGCTG -3'
Posted On 2022-08-09