Incidental Mutation 'IGL01392:Zfp719'
ID79266
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp719
Ensembl Gene ENSMUSG00000030469
Gene Namezinc finger protein 719
Synonyms9430094P17Rik, mszf6, C630016O21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL01392
Quality Score
Status
Chromosome7
Chromosomal Location43579610-43593235 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 43591130 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 714 (F714Y)
Ref Sequence ENSEMBL: ENSMUSP00000050968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058104] [ENSMUST00000205769]
Predicted Effect probably damaging
Transcript: ENSMUST00000058104
AA Change: F714Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050968
Gene: ENSMUSG00000030469
AA Change: F714Y

DomainStartEndE-ValueType
KRAB 49 109 1.18e-20 SMART
ZnF_C2H2 285 305 4.16e1 SMART
ZnF_C2H2 341 363 1.2e-3 SMART
ZnF_C2H2 369 391 9.08e-4 SMART
ZnF_C2H2 397 419 6.67e-2 SMART
ZnF_C2H2 425 447 7.9e-4 SMART
ZnF_C2H2 453 475 3.34e-2 SMART
ZnF_C2H2 481 503 1.38e-3 SMART
ZnF_C2H2 509 531 5.42e-2 SMART
ZnF_C2H2 537 559 3.78e-1 SMART
ZnF_C2H2 565 587 2.43e-4 SMART
ZnF_C2H2 593 615 4.54e-4 SMART
ZnF_C2H2 621 643 4.24e-4 SMART
ZnF_C2H2 649 671 6.42e-4 SMART
ZnF_C2H2 677 699 1.47e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205769
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 A G 2: 58,500,546 V2A probably benign Het
Adgrf5 A T 17: 43,450,012 Q866L probably benign Het
Ankrd13a A G 5: 114,797,853 E295G probably benign Het
Arid1a T C 4: 133,681,037 D2053G unknown Het
Calr4 A G 4: 109,253,874 E272G probably benign Het
Cmya5 T C 13: 93,089,206 S3125G probably damaging Het
Dnah7b T C 1: 46,126,788 Y538H probably damaging Het
Eri3 T C 4: 117,589,159 probably null Het
Fmo6 T A 1: 162,930,011 R63* probably null Het
Gm7168 G A 17: 13,948,907 D179N probably benign Het
Gm8979 T C 7: 106,083,755 I98V probably benign Het
Got1l1 T C 8: 27,197,991 T337A probably damaging Het
Igf2r A G 17: 12,704,349 M1191T probably benign Het
Ighv1-54 A G 12: 115,193,937 L30P probably damaging Het
Igkv8-30 A G 6: 70,117,347 S27P probably benign Het
Kcnab2 A T 4: 152,393,797 V335E possibly damaging Het
Klf12 A T 14: 100,149,757 I3N probably damaging Het
Megf8 T C 7: 25,363,749 V2510A probably benign Het
Mme A G 3: 63,362,046 D592G probably damaging Het
Myh1 A G 11: 67,221,301 N1727S probably benign Het
Ncor1 A G 11: 62,340,594 S796P probably damaging Het
Nlrp14 A G 7: 107,197,913 probably benign Het
Olfr1443 T A 19: 12,680,803 Y232N probably benign Het
Olfr508 C T 7: 108,630,678 R229C probably benign Het
Olfr564 T A 7: 102,803,854 Y125* probably null Het
Plekhm2 A G 4: 141,642,426 V86A probably damaging Het
Popdc2 G T 16: 38,374,131 V305L probably benign Het
Prpmp5 T C 6: 132,312,420 N147S unknown Het
Rttn C T 18: 88,995,613 H469Y probably benign Het
Slc2a12 T C 10: 22,664,684 V146A probably damaging Het
Sptlc3 A G 2: 139,546,421 E111G possibly damaging Het
Zfp108 T C 7: 24,258,447 probably benign Het
Other mutations in Zfp719
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01407:Zfp719 APN 7 43584187 missense probably benign 0.00
IGL01763:Zfp719 APN 7 43584189 missense probably benign 0.00
IGL03079:Zfp719 APN 7 43591166 missense probably damaging 1.00
R0522:Zfp719 UTSW 7 43589253 critical splice acceptor site probably null
R0524:Zfp719 UTSW 7 43589253 critical splice acceptor site probably null
R0542:Zfp719 UTSW 7 43589253 critical splice acceptor site probably null
R0543:Zfp719 UTSW 7 43589253 critical splice acceptor site probably null
R0662:Zfp719 UTSW 7 43584254 missense possibly damaging 0.56
R1390:Zfp719 UTSW 7 43590443 missense possibly damaging 0.69
R2959:Zfp719 UTSW 7 43590427 missense possibly damaging 0.89
R4708:Zfp719 UTSW 7 43590232 missense probably damaging 1.00
R4709:Zfp719 UTSW 7 43590232 missense probably damaging 1.00
R4710:Zfp719 UTSW 7 43590232 missense probably damaging 1.00
R4716:Zfp719 UTSW 7 43591111 missense possibly damaging 0.80
R4729:Zfp719 UTSW 7 43590410 missense probably damaging 1.00
R4755:Zfp719 UTSW 7 43590793 missense probably damaging 1.00
R5176:Zfp719 UTSW 7 43591125 missense probably damaging 1.00
R5949:Zfp719 UTSW 7 43584117 intron probably benign
R6063:Zfp719 UTSW 7 43589626 nonsense probably null
R6363:Zfp719 UTSW 7 43589866 missense probably benign 0.03
R6434:Zfp719 UTSW 7 43590988 missense probably damaging 1.00
R6465:Zfp719 UTSW 7 43590684 nonsense probably null
R6806:Zfp719 UTSW 7 43586385 missense possibly damaging 0.63
R6925:Zfp719 UTSW 7 43590706 missense probably damaging 1.00
Posted On2013-11-05