Incidental Mutation 'IGL01637:Zfr'
ID 93069
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfr
Ensembl Gene ENSMUSG00000022201
Gene Name zinc finger RNA binding protein
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01637
Quality Score
Status
Chromosome 15
Chromosomal Location 12117831-12185683 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12159646 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 676 (H676R)
Ref Sequence ENSEMBL: ENSMUSP00000118911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122941]
AlphaFold O88532
Predicted Effect probably benign
Transcript: ENSMUST00000122941
AA Change: H676R

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118911
Gene: ENSMUSG00000022201
AA Change: H676R

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: H9R
SMART Domains Protein: ENSMUSP00000114992
Gene: ENSMUSG00000022201
AA Change: H9R

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 probably benign
Transcript: ENSMUST00000156752
SMART Domains Protein: ENSMUSP00000119251
Gene: ENSMUSG00000022201

DomainStartEndE-ValueType
low complexity region 34 52 N/A INTRINSIC
DZF 57 299 1.79e-152 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158625
Coding Region Coverage
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,904,684 I384N probably damaging Het
Adsl G T 15: 80,948,700 Q51H probably null Het
Apcdd1 A G 18: 62,937,286 E208G probably damaging Het
Arrdc4 G A 7: 68,744,832 R155* probably null Het
Atp9b T C 18: 80,756,455 E823G probably benign Het
Bmp1 A G 14: 70,492,461 W468R probably damaging Het
C6 A G 15: 4,759,917 I281M possibly damaging Het
Ccdc88b T C 19: 6,846,710 T1392A probably benign Het
Dhx34 G T 7: 16,205,473 S665Y probably damaging Het
Dock1 A T 7: 135,137,813 probably null Het
Dpp7 T C 2: 25,354,613 N252S probably benign Het
Dyrk2 A G 10: 118,860,507 V282A probably damaging Het
Edrf1 T C 7: 133,650,525 L401P probably damaging Het
Epc1 A G 18: 6,439,724 V150A probably benign Het
Fam170a A T 18: 50,281,667 M127L possibly damaging Het
Fam19a3 C T 3: 104,773,079 V75M probably damaging Het
Gabrg1 T A 5: 70,777,205 T277S probably damaging Het
Galntl5 T C 5: 25,189,825 probably benign Het
Gbp2b A G 3: 142,598,312 N56S probably damaging Het
Gfm2 T A 13: 97,150,409 V172E probably damaging Het
Gm10419 T C 5: 108,372,358 probably benign Het
Gm7293 A G 9: 51,623,606 noncoding transcript Het
Gstm3 T C 3: 107,967,633 E101G probably damaging Het
Ifnlr1 T C 4: 135,686,545 W2R possibly damaging Het
Ighv13-1 A T 12: 114,267,733 probably benign Het
Ighv7-1 T A 12: 113,896,503 I90F possibly damaging Het
Itga2b A G 11: 102,455,583 L1009P probably damaging Het
Kif1a A G 1: 93,039,853 V1112A possibly damaging Het
Kif5a A T 10: 127,245,368 D232E possibly damaging Het
Klb G A 5: 65,375,679 probably null Het
Lrriq1 G A 10: 103,215,628 A421V probably benign Het
Mdga1 G A 17: 29,839,871 R721C probably damaging Het
Mrpl48 G T 7: 100,550,532 probably benign Het
Myo18b T A 5: 112,840,629 R1030S possibly damaging Het
Nf1 T A 11: 79,547,120 H2101Q probably damaging Het
Nlrp3 C A 11: 59,549,378 L594I probably damaging Het
Notch2 C T 3: 98,146,060 T2013I probably damaging Het
Olfr1018 A T 2: 85,822,988 T6S probably benign Het
Olfr131 G A 17: 38,082,103 L292F possibly damaging Het
Olfr593 C A 7: 103,212,177 R95S probably benign Het
Olfr812 A G 10: 129,842,610 L144P probably benign Het
Olfr845 T C 9: 19,338,964 F168S probably damaging Het
Panx3 T C 9: 37,664,056 D170G probably damaging Het
Pclo A G 5: 14,540,034 S783G unknown Het
Pde3b T A 7: 114,526,901 L790* probably null Het
Pik3r2 T C 8: 70,772,348 probably benign Het
Rassf4 A G 6: 116,641,690 F211L probably damaging Het
Rbl2 C T 8: 91,106,438 P666S probably benign Het
Rnf123 A G 9: 108,058,238 F979L probably damaging Het
Rock2 T A 12: 16,965,171 D788E probably benign Het
Serpina3b A G 12: 104,132,957 T244A probably benign Het
Setd1b T C 5: 123,148,513 S541P unknown Het
Slc12a4 T C 8: 105,960,707 D60G possibly damaging Het
Stac2 T C 11: 98,041,354 E241G probably benign Het
Tas2r115 A G 6: 132,737,629 Y120H probably damaging Het
Tmtc2 A T 10: 105,370,085 F450I probably benign Het
Txnl1 A T 18: 63,674,191 I198N probably damaging Het
Ubr2 A T 17: 46,956,654 M1049K probably damaging Het
Ugt2b5 T C 5: 87,139,900 E136G probably benign Het
Unc13b C T 4: 43,241,066 T3623I probably damaging Het
Usp13 T A 3: 32,919,064 S797T probably benign Het
Vmn1r173 A T 7: 23,702,948 T203S probably damaging Het
Vwf T A 6: 125,645,736 I1718N probably damaging Het
Other mutations in Zfr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01759:Zfr APN 15 12159655 missense probably damaging 0.99
IGL01935:Zfr APN 15 12180712 missense probably benign 0.42
IGL02056:Zfr APN 15 12154447 missense probably damaging 1.00
IGL03009:Zfr APN 15 12162235 missense probably damaging 1.00
IGL03147:Zfr UTSW 15 12140552 nonsense probably null
PIT4504001:Zfr UTSW 15 12166158 missense possibly damaging 0.48
R0377:Zfr UTSW 15 12160591 missense probably benign 0.02
R0678:Zfr UTSW 15 12184085 missense probably damaging 1.00
R0783:Zfr UTSW 15 12162182 missense probably damaging 1.00
R0787:Zfr UTSW 15 12140548 missense unknown
R1464:Zfr UTSW 15 12146372 missense probably damaging 1.00
R1464:Zfr UTSW 15 12146372 missense probably damaging 1.00
R1538:Zfr UTSW 15 12150243 missense possibly damaging 0.61
R1558:Zfr UTSW 15 12140644 missense unknown
R1619:Zfr UTSW 15 12150387 missense possibly damaging 0.52
R1924:Zfr UTSW 15 12160629 missense possibly damaging 0.74
R2163:Zfr UTSW 15 12162223 missense probably damaging 1.00
R2958:Zfr UTSW 15 12162233 missense probably benign 0.08
R2960:Zfr UTSW 15 12162233 missense probably benign 0.08
R2961:Zfr UTSW 15 12162233 missense probably benign 0.08
R2962:Zfr UTSW 15 12162233 missense probably benign 0.08
R2963:Zfr UTSW 15 12162233 missense probably benign 0.08
R3012:Zfr UTSW 15 12166163 missense probably damaging 1.00
R3054:Zfr UTSW 15 12154507 missense probably damaging 1.00
R3429:Zfr UTSW 15 12152920 missense probably benign 0.00
R3611:Zfr UTSW 15 12159762 critical splice donor site probably null
R3825:Zfr UTSW 15 12166191 missense probably damaging 1.00
R3882:Zfr UTSW 15 12162233 missense probably benign 0.08
R4080:Zfr UTSW 15 12162233 missense probably benign 0.08
R4241:Zfr UTSW 15 12149659 missense probably damaging 1.00
R4366:Zfr UTSW 15 12156330 missense probably damaging 0.99
R4375:Zfr UTSW 15 12118340 critical splice donor site probably null
R4893:Zfr UTSW 15 12136542 missense unknown
R4899:Zfr UTSW 15 12166145 missense probably benign 0.11
R4915:Zfr UTSW 15 12162112 critical splice acceptor site probably null
R5870:Zfr UTSW 15 12160615 missense probably damaging 1.00
R6162:Zfr UTSW 15 12146245 missense unknown
R6163:Zfr UTSW 15 12146245 missense unknown
R6165:Zfr UTSW 15 12146245 missense unknown
R6187:Zfr UTSW 15 12146231 small deletion probably benign
R6251:Zfr UTSW 15 12160591 missense probably benign 0.02
R6903:Zfr UTSW 15 12136455 missense unknown
R6959:Zfr UTSW 15 12150323 missense probably damaging 1.00
R7133:Zfr UTSW 15 12180638 missense probably damaging 1.00
R7167:Zfr UTSW 15 12180929 missense probably benign 0.01
R7212:Zfr UTSW 15 12146223 nonsense probably null
R7373:Zfr UTSW 15 12140559 missense unknown
R7489:Zfr UTSW 15 12152982 missense probably benign 0.24
R7602:Zfr UTSW 15 12159677 missense possibly damaging 0.56
R7623:Zfr UTSW 15 12160528 missense possibly damaging 0.83
R7896:Zfr UTSW 15 12146377 missense probably damaging 1.00
R8188:Zfr UTSW 15 12171818 missense probably damaging 1.00
R8289:Zfr UTSW 15 12135271 missense noncoding transcript
R8382:Zfr UTSW 15 12152968 nonsense probably null
R8475:Zfr UTSW 15 12150369 missense probably benign 0.08
R9124:Zfr UTSW 15 12136671 missense unknown
Posted On 2013-12-09