Incidental Mutation 'R6251:Zfr'
ID 506244
Institutional Source Beutler Lab
Gene Symbol Zfr
Ensembl Gene ENSMUSG00000022201
Gene Name zinc finger RNA binding protein
Synonyms C920030H05Rik
MMRRC Submission 044368-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6251 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 12117917-12185769 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12160677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 750 (I750T)
Ref Sequence ENSEMBL: ENSMUSP00000118911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122941]
AlphaFold O88532
Predicted Effect probably benign
Transcript: ENSMUST00000122941
AA Change: I750T

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000118911
Gene: ENSMUSG00000022201
AA Change: I750T

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: ENSMUST00000155054
AA Change: I83T
SMART Domains Protein: ENSMUSP00000114992
Gene: ENSMUSG00000022201
AA Change: I83T

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 unknown
Transcript: ENSMUST00000156752
AA Change: I17T
SMART Domains Protein: ENSMUSP00000119251
Gene: ENSMUSG00000022201
AA Change: I17T

DomainStartEndE-ValueType
low complexity region 34 52 N/A INTRINSIC
DZF 57 299 1.79e-152 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158625
Meta Mutation Damage Score 0.0831 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,504,445 (GRCm39) S36P probably damaging Het
Agmo A G 12: 37,302,538 (GRCm39) D125G probably damaging Het
Arhgap26 A T 18: 39,490,880 (GRCm39) S328C probably null Het
Arl6 T C 16: 59,439,169 (GRCm39) D175G probably damaging Het
Asb3 G A 11: 31,005,559 (GRCm39) A192T probably damaging Het
Atp10b A T 11: 43,126,573 (GRCm39) M1110L possibly damaging Het
Cacna1i T C 15: 80,220,883 (GRCm39) I175T probably damaging Het
Car15 A T 16: 17,655,227 (GRCm39) I71N probably benign Het
Casq1 T A 1: 172,044,407 (GRCm39) Y140F probably benign Het
Ccdc93 C T 1: 121,362,269 (GRCm39) T17M possibly damaging Het
Cfap46 CCTTCTTCT CCTTCT 7: 139,218,816 (GRCm39) probably benign Het
Ciart G A 3: 95,788,323 (GRCm39) probably benign Het
Cul5 A T 9: 53,558,094 (GRCm39) V170D probably benign Het
Cyb5r3 T C 15: 83,038,917 (GRCm39) D224G probably benign Het
Daam1 G A 12: 72,035,723 (GRCm39) G964R probably damaging Het
Daglb T A 5: 143,475,689 (GRCm39) L383Q probably damaging Het
Dazap2 T G 15: 100,514,864 (GRCm39) H28Q possibly damaging Het
Dnttip2 A T 3: 122,068,905 (GRCm39) D40V probably benign Het
Dynlt2b T A 16: 32,245,727 (GRCm39) D125E possibly damaging Het
Epn1 G T 7: 5,098,925 (GRCm39) D406Y probably damaging Het
Epn1 G T 7: 5,098,935 (GRCm39) R409L probably damaging Het
Evc T C 5: 37,457,843 (GRCm39) T966A probably benign Het
Extl3 T C 14: 65,314,375 (GRCm39) D269G probably damaging Het
Gfra3 TGCGC TGC 18: 34,828,864 (GRCm39) probably null Het
Gpr87 A T 3: 59,086,528 (GRCm39) F326I probably damaging Het
Hivep3 C A 4: 119,952,137 (GRCm39) P151H probably damaging Het
Kcnj14 T A 7: 45,467,440 (GRCm39) E302V probably damaging Het
Kdm5d T C Y: 921,693 (GRCm39) Y534H probably damaging Homo
Map3k5 T A 10: 20,014,006 (GRCm39) probably null Het
Mdn1 A G 4: 32,748,590 (GRCm39) T4212A probably benign Het
Ms4a6d A T 19: 11,564,504 (GRCm39) S122R probably damaging Het
Mtarc1 G A 1: 184,527,648 (GRCm39) R271W probably damaging Het
Nectin3 A T 16: 46,215,513 (GRCm39) H76Q probably damaging Het
Notch1 C A 2: 26,364,182 (GRCm39) E846D possibly damaging Het
Or1e23 A G 11: 73,407,534 (GRCm39) S164P probably benign Het
Or4a67 T C 2: 88,598,632 (GRCm39) E9G probably damaging Het
Or8b36 GTTT GTTTGCTTTTT 9: 37,937,842 (GRCm39) probably null Het
Or8b36 TT TTGCTGTGT 9: 37,937,844 (GRCm39) probably null Het
Or8b36 G GGGATTGC 9: 37,937,833 (GRCm39) probably null Het
Or8b36 TGTTT TGTTTGCAGTTT 9: 37,937,841 (GRCm39) probably null Het
Or8g18 T A 9: 39,149,514 (GRCm39) I72F possibly damaging Het
Pfkl C T 10: 77,825,399 (GRCm39) probably null Het
Pigz T C 16: 31,764,424 (GRCm39) V494A possibly damaging Het
Pik3r4 T C 9: 105,531,247 (GRCm39) V516A probably benign Het
Polr2b G A 5: 77,496,141 (GRCm39) R1104K probably benign Het
Rap1a A T 3: 105,639,311 (GRCm39) L116* probably null Het
Rnf114 T C 2: 167,356,649 (GRCm39) *230R probably null Het
Rtl1 G T 12: 109,560,083 (GRCm39) N585K probably benign Het
Serpinb5 G T 1: 106,802,795 (GRCm39) R110I possibly damaging Het
Spink6 T C 18: 44,207,498 (GRCm39) probably null Het
Spopfm1 G T 3: 94,173,208 (GRCm39) S72I probably damaging Het
Stk39 A T 2: 68,137,383 (GRCm39) probably null Het
Tcstv2a T C 13: 120,724,907 (GRCm39) probably benign Het
Tcte1 A T 17: 45,846,085 (GRCm39) T230S probably benign Het
Tecpr1 C A 5: 144,135,394 (GRCm39) V1020L probably damaging Het
Tmc7 T C 7: 118,160,261 (GRCm39) Y192C possibly damaging Het
Trim63 A T 4: 134,050,537 (GRCm39) T274S probably benign Het
Wdr43 G A 17: 71,957,048 (GRCm39) probably null 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
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'- TGGACAGTTTGCTTAATTGCCTTTC -3'
(R):5'- GTGGACTAACACCAATTTCCCCTC -3'

Sequencing Primer
(F):5'- GCCTTTCTTACTTTAAAGCTAGCAAC -3'
(R):5'- TGCCAGGTGAGTTCAGATACC -3'
Posted On 2018-03-15