Incidental Mutation 'R6162:Zfr'
ID 489936
Institutional Source Beutler Lab
Gene Symbol Zfr
Ensembl Gene ENSMUSG00000022201
Gene Name zinc finger RNA binding protein
Synonyms C920030H05Rik
MMRRC Submission 044309-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6162 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 12117917-12185769 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 12146331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 294 (A294V)
Ref Sequence ENSEMBL: ENSMUSP00000117207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122941] [ENSMUST00000128475]
AlphaFold O88532
Predicted Effect unknown
Transcript: ENSMUST00000122941
AA Change: A294V
SMART Domains Protein: ENSMUSP00000118911
Gene: ENSMUSG00000022201
AA Change: A294V

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 unknown
Transcript: ENSMUST00000128475
AA Change: A294V
SMART Domains Protein: ENSMUSP00000117207
Gene: ENSMUSG00000022201
AA Change: A294V

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: ENSMUST00000228196
Meta Mutation Damage Score 0.1193 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 98% (40/41)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,259,047 (GRCm39) C2924W probably damaging Het
Adh4 T A 3: 138,121,250 (GRCm39) probably null Het
Aox3 A T 1: 58,198,890 (GRCm39) D695V possibly damaging Het
Ccnj A G 19: 40,833,606 (GRCm39) Y221C probably damaging Het
Cct2 T A 10: 116,894,091 (GRCm39) D221V probably damaging Het
Cd5 G A 19: 10,703,244 (GRCm39) T138M probably damaging Het
Cep78 A T 19: 15,952,304 (GRCm39) M307K probably benign Het
Dclk1 C A 3: 55,163,575 (GRCm39) D222E probably benign Het
Dhrs11 C T 11: 84,719,605 (GRCm39) G40D probably damaging Het
Dnah10 A G 5: 124,900,382 (GRCm39) S3823G probably benign Het
Dnai3 T A 3: 145,750,617 (GRCm39) I821F probably damaging Het
Dock3 A T 9: 106,841,998 (GRCm39) Y944N possibly damaging Het
Dst A G 1: 34,045,318 (GRCm39) D17G probably damaging Het
Ehmt2 C T 17: 35,118,067 (GRCm39) R40* probably null Het
Fam20a G T 11: 109,573,696 (GRCm39) S229* probably null Het
Fbn1 T C 2: 125,202,147 (GRCm39) D1242G probably damaging Het
Ggt5 T A 10: 75,425,626 (GRCm39) V28D possibly damaging Het
Gimap4 A T 6: 48,667,655 (GRCm39) I137F probably damaging Het
Git2 T A 5: 114,899,717 (GRCm39) H212L probably damaging Het
Gprc6a T A 10: 51,491,008 (GRCm39) I739F probably benign Het
Il1rl2 A G 1: 40,391,038 (GRCm39) Y327C probably damaging Het
Lmf1 A G 17: 25,831,368 (GRCm39) I205V probably benign Het
Mipep C A 14: 61,024,853 (GRCm39) P98Q probably damaging Het
Mroh2b A G 15: 4,944,707 (GRCm39) D436G probably damaging Het
Mtcl2 T A 2: 156,881,784 (GRCm39) E756V possibly damaging Het
Myorg A G 4: 41,497,899 (GRCm39) V577A possibly damaging Het
Notch1 C T 2: 26,352,207 (GRCm39) V2035I probably benign Het
Or1e28-ps1 T A 11: 73,615,713 (GRCm39) I46F probably damaging Het
Or2ag16 A T 7: 106,352,227 (GRCm39) Y123N probably damaging Het
Or4c118 G T 2: 88,975,114 (GRCm39) F84L probably benign Het
Oxa1l A G 14: 54,605,789 (GRCm39) T395A probably damaging Het
Phospho2 T A 2: 69,626,375 (GRCm39) I177K probably damaging Het
Prpf40a T C 2: 53,049,317 (GRCm39) T224A probably benign Het
Reln T A 5: 22,116,048 (GRCm39) T2987S probably damaging Het
Scn5a T A 9: 119,351,621 (GRCm39) I787F probably damaging Het
Sgsm2 A T 11: 74,782,847 (GRCm39) D36E probably damaging Het
Slc12a3 A G 8: 95,072,401 (GRCm39) probably null Het
Tas2r134 T C 2: 51,517,571 (GRCm39) S17P probably damaging Het
Top3a T C 11: 60,636,763 (GRCm39) Y609C probably damaging Het
Trem2 A G 17: 48,655,694 (GRCm39) I84V probably damaging Het
Vmn2r12 A G 5: 109,234,430 (GRCm39) L594P probably damaging Het
Zdbf2 A T 1: 63,319,977 (GRCm39) probably benign 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
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
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'- ACTTGCTGTAGAAGGTTGGTAAGTC -3'
(R):5'- AATAACCACGGAGACTCATGG -3'

Sequencing Primer
(F):5'- TGCACATGTAATCTACCTTTTGAC -3'
(R):5'- CCACGGAGACTCATGGTAAATAC -3'
Posted On 2017-10-10