Incidental Mutation 'IGL00691:Zfp711'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp711
Ensembl Gene ENSMUSG00000025529
Gene Namezinc finger protein 711
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00691
Quality Score
Chromosomal Location112600526-112635070 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 112624811 bp
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

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

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

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