Incidental Mutation 'R0377:Zfr'
ID 30823
Institutional Source Beutler Lab
Gene Symbol Zfr
Ensembl Gene ENSMUSG00000022201
Gene Name zinc finger RNA binding protein
Synonyms C920030H05Rik
MMRRC Submission 038583-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0377 (G1)
Quality Score 225
Status 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: 99.1%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.8%
Validation Efficiency 97% (67/69)
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
Abcc3 C A 11: 94,265,922 (GRCm39) V107F possibly damaging Het
Acad11 T A 9: 103,958,891 (GRCm39) probably benign Het
Ache G A 5: 137,289,190 (GRCm39) E299K possibly damaging Het
Adam5 T C 8: 25,237,557 (GRCm39) T618A probably benign Het
Amigo2 T A 15: 97,144,261 (GRCm39) T54S possibly damaging Het
Anapc1 A G 2: 128,483,260 (GRCm39) probably null Het
Btaf1 A G 19: 36,966,402 (GRCm39) K1057E probably benign Het
Cep55 T A 19: 38,060,337 (GRCm39) L396* probably null Het
Cic C A 7: 24,985,224 (GRCm39) H1157N probably damaging Het
Cntnap5a A T 1: 116,220,259 (GRCm39) T690S probably benign Het
D5Ertd579e A T 5: 36,761,911 (GRCm39) C1319S probably benign Het
Dnah6 A G 6: 73,098,975 (GRCm39) S2027P possibly damaging Het
Dnai4 A G 4: 102,905,456 (GRCm39) V775A probably damaging Het
Dntt G A 19: 41,036,066 (GRCm39) W369* probably null Het
Esp18 T A 17: 39,720,835 (GRCm39) W27R probably benign Het
Fam227b A T 2: 125,966,920 (GRCm39) probably benign Het
Fbxo31 G A 8: 122,285,841 (GRCm39) probably benign Het
Gm13547 G A 2: 29,651,803 (GRCm39) probably null Het
Gnl2 T A 4: 124,940,175 (GRCm39) probably benign Het
Gpx2 G A 12: 76,841,930 (GRCm39) Q74* probably null Het
Gucy2c A G 6: 136,727,915 (GRCm39) probably null Het
Hoxa5 A T 6: 52,179,626 (GRCm39) W250R probably damaging Het
Izumo4 G A 10: 80,538,674 (GRCm39) R42H probably damaging Het
Kcnj12 G A 11: 60,960,222 (GRCm39) M71I probably benign Het
Kmt2b A T 7: 30,273,618 (GRCm39) L2333Q probably damaging Het
Mak T C 13: 41,202,824 (GRCm39) E177G probably damaging Het
Map3k7 T A 4: 31,985,731 (GRCm39) I218N probably damaging Het
Mark3 T C 12: 111,595,463 (GRCm39) L393P probably damaging Het
Msh4 A G 3: 153,602,527 (GRCm39) S234P probably benign Het
Mug1 A G 6: 121,834,320 (GRCm39) D367G probably benign Het
Mypn A G 10: 62,963,401 (GRCm39) probably benign Het
Ncapg T C 5: 45,851,159 (GRCm39) V784A probably benign Het
Nutf2 T A 8: 106,605,504 (GRCm39) V113D probably damaging Het
Odad2 G A 18: 7,127,415 (GRCm39) R933C probably benign Het
Opn3 T C 1: 175,491,260 (GRCm39) M258V probably damaging Het
Or8k33 A T 2: 86,383,927 (GRCm39) D180E probably damaging Het
Osbpl7 A G 11: 96,946,760 (GRCm39) D211G probably damaging Het
Pcnx1 C T 12: 82,021,353 (GRCm39) probably benign Het
Plekhd1 G A 12: 80,753,210 (GRCm39) probably benign Het
Pnpla6 A G 8: 3,591,501 (GRCm39) E1165G probably damaging Het
Prkab2 T A 3: 97,569,633 (GRCm39) D66E probably benign Het
Prpsap2 A G 11: 61,631,826 (GRCm39) I177T possibly damaging Het
Ptpn23 A T 9: 110,217,200 (GRCm39) S885R possibly damaging Het
Rab26 A T 17: 24,749,019 (GRCm39) probably benign Het
Rab5a G A 17: 53,807,490 (GRCm39) M175I probably benign Het
Rassf9 T A 10: 102,381,510 (GRCm39) D297E probably benign Het
Rimbp2 C T 5: 128,880,925 (GRCm39) R161Q probably damaging Het
Rtp1 A G 16: 23,250,034 (GRCm39) Y133C probably damaging Het
Sdr16c5 G A 4: 4,005,546 (GRCm39) L263F probably benign Het
Sec14l1 T G 11: 117,039,966 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spaca1 T C 4: 34,044,267 (GRCm39) probably null Het
Stk36 C T 1: 74,651,889 (GRCm39) P394L probably benign Het
Stk4 T C 2: 163,938,720 (GRCm39) I196T probably damaging Het
Sult1b1 A T 5: 87,665,235 (GRCm39) M233K probably damaging Het
Tmem8b C T 4: 43,674,005 (GRCm39) T212M probably damaging Het
Tmprss11g A T 5: 86,638,610 (GRCm39) F293I probably damaging Het
Tnfsf11 T G 14: 78,537,352 (GRCm39) T104P probably benign Het
Trmt2a G A 16: 18,067,567 (GRCm39) R80Q possibly damaging Het
Trps1 C A 15: 50,695,174 (GRCm39) E324* probably null Het
U2surp C T 9: 95,366,496 (GRCm39) V470I probably benign Het
Wdr18 G A 10: 79,803,336 (GRCm39) R400H probably benign Het
Zfp119b T A 17: 56,245,671 (GRCm39) H505L probably damaging Het
Zfp619 T A 7: 39,186,221 (GRCm39) C750* 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
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
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'- AGGCCCATCCGTAGTAGAGCACTAAC -3'
(R):5'- GTGTGGACTAACACCAATTTCCCCTC -3'

Sequencing Primer
(F):5'- CCGTAGTAGAGCACTAACATTTG -3'
(R):5'- ttaaggactgagccatctcac -3'
Posted On 2013-04-24