Incidental Mutation 'IGL00691:Zfp711'
ID277856
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 #IGL00691
Quality Score
Status
ChromosomeX
Chromosomal Location112600526-112635070 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 112624811 bp
ZygosityHeterozygous
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]
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: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik C T 7: 34,245,485 V657M probably damaging Het
Acvr1 T C 2: 58,447,573 D499G probably benign Het
Agl G T 3: 116,779,258 Q811K possibly damaging Het
Col6a4 C A 9: 106,057,407 G1435C probably damaging Het
Dhx15 T C 5: 52,170,093 Y303C probably damaging Het
Ebag9 A G 15: 44,627,591 I40V probably damaging Het
Lrrd1 T G 5: 3,863,929 I733S probably damaging Het
Mroh8 T C 2: 157,238,307 probably benign Het
Nr3c2 C T 8: 76,909,590 S440F possibly damaging Het
St3gal4 A G 9: 35,053,069 probably benign Het
Tle2 A G 10: 81,581,739 D246G probably benign Het
Vipr2 A G 12: 116,138,748 probably null Het
Zzz3 C A 3: 152,428,514 T403K probably benign Het
Other mutations in Zfp711
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00687: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
IGL03301:Zfp711 APN X 112633401 missense probably damaging 1.00
Posted On2015-04-16