Incidental Mutation 'IGL00687:Zfp711'
ID 277853
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp711
Ensembl Gene ENSMUSG00000025529
Gene Name zinc finger protein 711
Synonyms A230078I01Rik, 2810409C01Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL00687
Quality Score
Status
Chromosome X
Chromosomal Location 111510259-111544767 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 111534508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 284 (R284Q)
Ref Sequence ENSEMBL: ENSMUSP00000071717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071814] [ENSMUST00000113409]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000071814
AA Change: R284Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071717
Gene: ENSMUSG00000025529
AA Change: R284Q

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: R284Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109036
Gene: ENSMUSG00000025529
AA Change: R284Q

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 unknown
Transcript: ENSMUST00000122805
AA Change: R121Q
SMART Domains Protein: ENSMUSP00000118117
Gene: ENSMUSG00000025529
AA Change: R121Q

DomainStartEndE-ValueType
Pfam:Zfx_Zfy_act 1 231 5.9e-76 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151972
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: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v0a1 T A 11: 100,921,331 (GRCm39) probably null Het
Cpb2 A G 14: 75,512,533 (GRCm39) I315M possibly damaging Het
Dnah11 T A 12: 117,885,739 (GRCm39) probably benign Het
G3bp2 T C 5: 92,213,707 (GRCm39) E150G probably damaging Het
Ibsp A G 5: 104,457,934 (GRCm39) E157G probably benign Het
Ms4a4c T C 19: 11,398,682 (GRCm39) S167P possibly damaging Het
Pkhd1 T C 1: 20,594,294 (GRCm39) N1273S probably benign Het
Rap1gap2 T A 11: 74,307,085 (GRCm39) D337V probably benign Het
Slc35f3 T C 8: 127,108,903 (GRCm39) F151L probably benign Het
Unc5d A T 8: 29,205,841 (GRCm39) probably benign Het
Other mutations in Zfp711
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00691:Zfp711 APN X 111,534,508 (GRCm39) missense probably damaging 1.00
IGL02591:Zfp711 APN X 111,542,391 (GRCm39) missense probably benign 0.09
IGL03000:Zfp711 APN X 111,534,555 (GRCm39) nonsense probably null
IGL03301:Zfp711 APN X 111,543,098 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16