Incidental Mutation 'R8289:Zfr'
ID 638599
Institutional Source Beutler Lab
Gene Symbol Zfr
Ensembl Gene ENSMUSG00000022201
Gene Name zinc finger RNA binding protein
Synonyms C920030H05Rik
MMRRC Submission 067711-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8289 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 12117917-12185769 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 12135357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 49 (V49F)
Ref Sequence ENSEMBL: ENSMUSP00000119917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122941] [ENSMUST00000128475] [ENSMUST00000134277]
AlphaFold O88532
Predicted Effect probably benign
Transcript: ENSMUST00000122941
SMART Domains Protein: ENSMUSP00000118911
Gene: ENSMUSG00000022201

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: ENSMUST00000128475
SMART Domains Protein: ENSMUSP00000117207
Gene: ENSMUSG00000022201

DomainStartEndE-ValueType
low complexity region 32 79 N/A INTRINSIC
low complexity region 122 145 N/A INTRINSIC
low complexity region 159 187 N/A INTRINSIC
low complexity region 192 247 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134277
AA Change: V49F
SMART Domains Protein: ENSMUSP00000119917
Gene: ENSMUSG00000022201
AA Change: V49F

DomainStartEndE-ValueType
low complexity region 78 125 N/A INTRINSIC
low complexity region 168 191 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (62/62)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G C 11: 109,927,515 (GRCm39) probably benign Het
Adamts3 C A 5: 89,923,282 (GRCm39) D175Y possibly damaging Het
Adra1b G A 11: 43,726,315 (GRCm39) P201S probably damaging Het
Ahnak2 A G 12: 112,742,242 (GRCm39) V610A possibly damaging Het
Ap5s1 A C 2: 131,054,379 (GRCm39) H62P probably benign Het
Apeh A G 9: 107,963,444 (GRCm39) S593P probably damaging Het
Arhgap24 T C 5: 103,028,692 (GRCm39) V289A possibly damaging Het
Atoh1 A G 6: 64,706,893 (GRCm39) E196G probably damaging Het
Atp1b3 G A 9: 96,215,602 (GRCm39) S271L probably benign Het
Atp6v0a1 A G 11: 100,924,931 (GRCm39) R339G probably damaging Het
Calb2 T C 8: 110,894,690 (GRCm39) H27R possibly damaging Het
Camkk2 A C 5: 122,894,689 (GRCm39) L201R probably damaging Het
Car15 A G 16: 17,654,580 (GRCm39) probably null Het
Cecr2 A G 6: 120,735,077 (GRCm39) N771S probably benign Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Csmd1 T A 8: 16,108,716 (GRCm39) I1896F probably damaging Het
Cubn C T 2: 13,491,613 (GRCm39) V145I probably benign Het
Cuedc1 G A 11: 88,073,381 (GRCm39) S182N probably benign Het
Cux1 T A 5: 136,337,358 (GRCm39) E718V probably damaging Het
Cyp7a1 G A 4: 6,268,295 (GRCm39) P477S probably damaging Het
Dcaf17 T A 2: 70,885,718 (GRCm39) W16R Het
Dhx8 T A 11: 101,631,571 (GRCm39) M388K probably benign Het
Dnah14 T A 1: 181,543,780 (GRCm39) Y2453* probably null Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
F830016B08Rik G A 18: 60,433,360 (GRCm39) E148K probably benign Het
Hectd4 A G 5: 121,404,424 (GRCm39) T434A possibly damaging Het
Ide A G 19: 37,290,952 (GRCm39) L368P Het
Ide G C 19: 37,290,953 (GRCm39) L368V probably null Het
Ifi206 T C 1: 173,308,032 (GRCm39) I655V Het
Insrr A G 3: 87,721,501 (GRCm39) M1136V probably damaging Het
Kcne2 A G 16: 92,093,707 (GRCm39) E78G probably damaging Het
Lrrc23 A T 6: 124,755,267 (GRCm39) L90H probably damaging Het
Magel2 A C 7: 62,028,875 (GRCm39) Q593P unknown Het
Mrgpra3 G A 7: 47,239,468 (GRCm39) H153Y possibly damaging Het
Msln A G 17: 25,967,880 (GRCm39) V595A possibly damaging Het
Mvb12a T C 8: 71,995,703 (GRCm39) probably null Het
Myo7a T G 7: 97,726,376 (GRCm39) M966L probably benign Het
Ncoa5 C T 2: 164,854,982 (GRCm39) D47N possibly damaging Het
Neurl4 T A 11: 69,800,206 (GRCm39) probably null Het
Or1e29 T A 11: 73,667,839 (GRCm39) M105L probably benign Het
Or4d1 T C 11: 87,805,589 (GRCm39) T48A probably benign Het
Or5p75-ps1 T A 7: 108,108,125 (GRCm39) H287Q unknown Het
Or8b37 T A 9: 37,959,000 (GRCm39) C161S probably benign Het
Osbpl7 T A 11: 96,947,405 (GRCm39) S480T probably benign Het
Podnl1 T C 8: 84,858,552 (GRCm39) L484P Het
Polr3gl G T 3: 96,489,228 (GRCm39) probably benign Het
Prkaa1 G T 15: 5,206,563 (GRCm39) V438L possibly damaging Het
Prune2 A T 19: 17,100,373 (GRCm39) H1959L probably benign Het
Rad50 A T 11: 53,589,685 (GRCm39) L172* probably null Het
Samsn1 C A 16: 75,685,684 (GRCm39) G25W probably damaging Het
Sbno1 T G 5: 124,542,068 (GRCm39) L362F probably damaging Het
Slc26a6 G A 9: 108,733,230 (GRCm39) R43H probably benign Het
Slc35f5 T G 1: 125,490,252 (GRCm39) Y49* probably null Het
Slc41a2 T C 10: 83,137,044 (GRCm39) I288V probably benign Het
Slc9c1 A G 16: 45,403,344 (GRCm39) M804V probably benign Het
Smc6 T A 12: 11,324,052 (GRCm39) S66T probably benign Het
Ssh1 T C 5: 114,080,445 (GRCm39) D995G probably benign Het
Stk11 G T 10: 79,961,740 (GRCm39) probably benign Het
Sycp1 A G 3: 102,748,353 (GRCm39) I813T probably benign Het
Tmem121b A T 6: 120,469,722 (GRCm39) S332T possibly damaging Het
Treml4 A C 17: 48,581,456 (GRCm39) I244L probably benign Het
Unc13b T A 4: 43,172,524 (GRCm39) C1117* probably null Het
Wdr35 A G 12: 9,058,020 (GRCm39) I526V probably benign Het
Zap70 T C 1: 36,820,218 (GRCm39) W500R 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
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
R9598:Zfr UTSW 15 12,162,292 (GRCm39) missense probably damaging 0.99
R9631:Zfr UTSW 15 12,154,628 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CAGCTCCACAGAAATCTCTCTG -3'
(R):5'- GCACAAGTATTTGAGCCACC -3'

Sequencing Primer
(F):5'- GCTCATTAGTAGGGACTTCACCTAG -3'
(R):5'- TTGAGCCACCATATTTAACCTGAAC -3'
Posted On 2020-07-28