Incidental Mutation 'IGL03000:Zfp711'
ID 407287
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 # IGL03000
Quality Score
Status
Chromosome X
Chromosomal Location 111510259-111544767 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 111534555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 137 (Q137*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071814] [ENSMUST00000113409]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000071814
AA Change: Q300*
SMART Domains Protein: ENSMUSP00000071717
Gene: ENSMUSG00000025529
AA Change: Q300*

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 null
Transcript: ENSMUST00000113409
AA Change: Q300*
SMART Domains Protein: ENSMUSP00000109036
Gene: ENSMUSG00000025529
AA Change: Q300*

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 null
Transcript: ENSMUST00000122805
AA Change: Q137*
SMART Domains Protein: ENSMUSP00000118117
Gene: ENSMUSG00000025529
AA Change: Q137*

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,360,959 (GRCm39) S445G probably benign Het
Abca5 C T 11: 110,208,640 (GRCm39) V226I probably benign Het
Ankrd34c A T 9: 89,611,239 (GRCm39) D367E probably benign Het
Bmp6 G T 13: 38,682,887 (GRCm39) probably benign Het
Cacna2d2 T C 9: 107,401,397 (GRCm39) probably null Het
Cblb T G 16: 52,024,905 (GRCm39) D933E probably damaging Het
Ccny A G 18: 9,353,489 (GRCm39) S95P probably benign Het
Cep192 A G 18: 67,985,115 (GRCm39) I1658V probably damaging Het
Cntn6 A T 6: 104,781,347 (GRCm39) T478S probably damaging Het
Cpne7 T C 8: 123,853,435 (GRCm39) F247L probably benign Het
Csf1r A G 18: 61,242,724 (GRCm39) E29G probably damaging Het
Dctn3 T A 4: 41,719,912 (GRCm39) I65F possibly damaging Het
Dock1 A G 7: 134,390,969 (GRCm39) E743G probably benign Het
Dus2 C A 8: 106,775,316 (GRCm39) T281N probably damaging Het
Gbx1 G T 5: 24,709,924 (GRCm39) T307K probably benign Het
Gtf2ird2 A T 5: 134,223,745 (GRCm39) N93I probably benign Het
Heatr1 A G 13: 12,449,292 (GRCm39) D1930G probably damaging Het
Hif3a T C 7: 16,782,564 (GRCm39) I334V probably benign Het
Ints1 G T 5: 139,752,261 (GRCm39) N756K probably benign Het
Kcnn2 T C 18: 45,693,635 (GRCm39) F404L probably damaging Het
Kmt2c G A 5: 25,489,170 (GRCm39) R4590W probably damaging Het
Limk1 A T 5: 134,699,355 (GRCm39) V134E probably damaging Het
Mep1a A G 17: 43,785,881 (GRCm39) V736A probably benign Het
Mex3a T A 3: 88,443,602 (GRCm39) I226N probably damaging Het
Mgl2 A T 11: 70,025,026 (GRCm39) K16* probably null Het
Mms22l G T 4: 24,581,161 (GRCm39) V864L probably damaging Het
Mroh4 T A 15: 74,487,963 (GRCm39) M320L probably benign Het
Mylk3 G A 8: 86,085,806 (GRCm39) P243S probably damaging Het
Nbea A C 3: 55,912,048 (GRCm39) D1246E possibly damaging Het
Ndnf A G 6: 65,680,299 (GRCm39) T193A possibly damaging Het
Nfasc T C 1: 132,549,247 (GRCm39) probably benign Het
Or6k8-ps1 A G 1: 173,979,126 (GRCm39) T15A probably benign Het
Ptprq A T 10: 107,378,518 (GRCm39) F2008I probably damaging Het
Rhag A G 17: 41,139,413 (GRCm39) K116R probably benign Het
Rictor T A 15: 6,798,721 (GRCm39) probably benign Het
Slc35f5 C A 1: 125,502,479 (GRCm39) T277N probably damaging Het
Sorcs2 A G 5: 36,222,675 (GRCm39) probably benign Het
Ssh2 T A 11: 77,312,032 (GRCm39) probably benign Het
Togaram2 T C 17: 72,024,365 (GRCm39) S830P probably benign Het
Trim30d T C 7: 104,122,476 (GRCm39) T112A probably benign Het
Ttc34 T C 4: 154,949,888 (GRCm39) V947A probably damaging Het
Ttn A G 2: 76,642,953 (GRCm39) probably benign Het
Ubr5 A T 15: 38,025,096 (GRCm39) V560D probably damaging Het
Ush2a A T 1: 188,282,053 (GRCm39) E1856V possibly damaging Het
Zfp142 T C 1: 74,612,777 (GRCm39) M457V probably benign Het
Zkscan17 T C 11: 59,377,986 (GRCm39) Y399C probably damaging Het
Zswim6 T G 13: 107,863,649 (GRCm39) noncoding transcript Het
Zswim6 T A 13: 107,863,650 (GRCm39) noncoding transcript Het
Other mutations in Zfp711
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00687:Zfp711 APN X 111,534,508 (GRCm39) missense probably damaging 1.00
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
IGL03301:Zfp711 APN X 111,543,098 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02