Incidental Mutation 'IGL03301:Zfp711'
ID416212
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp711
Ensembl Gene ENSMUSG00000025529
Gene Namezinc finger protein 711
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL03301
Quality Score
Status
ChromosomeX
Chromosomal Location112600526-112635070 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 112633401 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 710 (Y710H)
Ref Sequence ENSEMBL: ENSMUSP00000071717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071814] [ENSMUST00000113409]
Predicted Effect probably damaging
Transcript: ENSMUST00000071814
AA Change: Y710H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071717
Gene: ENSMUSG00000025529
AA Change: Y710H

DomainStartEndE-ValueType
Pfam:Zfx_Zfy_act 64 367 2.4e-111 PFAM
ZnF_C2H2 382 404 2.79e-4 SMART
ZnF_C2H2 413 435 4.72e-2 SMART
ZnF_C2H2 475 498 1.1e-2 SMART
ZnF_C2H2 504 526 3.44e-4 SMART
ZnF_C2H2 532 555 2.24e-3 SMART
ZnF_C2H2 561 586 3.52e-1 SMART
ZnF_C2H2 589 612 8.34e-3 SMART
ZnF_C2H2 618 640 4.79e-3 SMART
ZnF_C2H2 646 669 7.55e-1 SMART
ZnF_C2H2 675 697 2.24e-3 SMART
ZnF_C2H2 703 726 1.28e-3 SMART
ZnF_C2H2 732 754 4.4e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113409
AA Change: Y755H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109036
Gene: ENSMUSG00000025529
AA Change: Y755H

DomainStartEndE-ValueType
Pfam:Zfx_Zfy_act 65 412 4.3e-126 PFAM
ZnF_C2H2 427 449 2.79e-4 SMART
ZnF_C2H2 458 480 4.72e-2 SMART
ZnF_C2H2 520 543 1.1e-2 SMART
ZnF_C2H2 549 571 3.44e-4 SMART
ZnF_C2H2 577 600 2.24e-3 SMART
ZnF_C2H2 606 631 3.52e-1 SMART
ZnF_C2H2 634 657 8.34e-3 SMART
ZnF_C2H2 663 685 4.79e-3 SMART
ZnF_C2H2 691 714 7.55e-1 SMART
ZnF_C2H2 720 742 2.24e-3 SMART
ZnF_C2H2 748 771 1.28e-3 SMART
ZnF_C2H2 777 799 4.4e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122805
SMART Domains Protein: ENSMUSP00000118117
Gene: ENSMUSG00000025529

DomainStartEndE-ValueType
Pfam:Zfx_Zfy_act 1 231 5.9e-76 PFAM
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 a zinc finger protein of unknown function. It bears similarity to a zinc finger protein which acts as a transcriptional activator. This gene lies in a region of the X chromosome which has been associated with mental retardation. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,707,404 E418G probably damaging Het
Arl14 T C 3: 69,222,943 F141S probably damaging Het
C1s1 A T 6: 124,541,324 probably benign Het
Cilp T C 9: 65,280,217 V1198A probably benign Het
Cnbd1 A T 4: 19,055,039 I129K probably benign Het
Ctdp1 G A 18: 80,449,634 Q549* probably null Het
Cyp2ab1 T A 16: 20,313,799 I250F possibly damaging Het
Dmd G A X: 83,908,514 R1765Q probably damaging Het
Dnah1 C T 14: 31,292,692 G1739R probably damaging Het
Eml6 T C 11: 29,764,083 K1350E probably benign Het
Ephx4 C A 5: 107,426,864 T256K probably benign Het
Fnd3c2 G T X: 106,252,263 Q49K probably benign Het
Heatr1 G T 13: 12,434,205 G1889W probably damaging Het
Igkv19-93 A T 6: 68,736,481 W55R probably damaging Het
Jak1 T C 4: 101,175,173 Y412C probably damaging Het
Moxd1 A T 10: 24,279,484 N261I probably damaging Het
Mrgpra1 T C 7: 47,335,416 N172D probably benign Het
Papolg T C 11: 23,874,503 N293S probably benign Het
Piezo2 A G 18: 63,027,704 S2294P probably damaging Het
Ppp3cb A T 14: 20,523,984 V262D probably damaging Het
Rhox7a A G X: 37,840,011 T235A probably benign Het
Saal1 A G 7: 46,702,520 probably benign Het
Scrn1 G A 6: 54,548,337 R16* probably null Het
Slc22a2 A G 17: 12,606,039 R263G probably damaging Het
Speer3 T A 5: 13,795,433 L160H probably damaging Het
Tmcc2 T C 1: 132,360,819 M377V possibly damaging Het
Tsen2 T G 6: 115,568,771 Y341D probably damaging Het
Vmn2r13 A T 5: 109,158,089 V541D probably damaging Het
Vmn2r15 A G 5: 109,297,355 probably null Het
Zmiz2 C T 11: 6,401,170 T566M probably damaging Het
Other mutations in Zfp711
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00687:Zfp711 APN X 112624811 missense probably damaging 1.00
IGL00691:Zfp711 APN X 112624811 missense probably damaging 1.00
IGL02591:Zfp711 APN X 112632694 missense probably benign 0.09
IGL03000:Zfp711 APN X 112624858 nonsense probably null
Posted On2016-08-02