Incidental Mutation 'IGL02591:Zfp711'
ID 299754
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 # IGL02591
Quality Score
Status
Chromosome X
Chromosomal Location 111510259-111544767 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111542391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 474 (M474K)
Ref Sequence ENSEMBL: ENSMUSP00000071717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071814] [ENSMUST00000113409]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000071814
AA Change: M474K

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000071717
Gene: ENSMUSG00000025529
AA Change: M474K

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 benign
Transcript: ENSMUST00000113409
AA Change: M519K

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000109036
Gene: ENSMUSG00000025529
AA Change: M519K

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A T 2: 19,485,249 (GRCm39) F448I probably benign Het
Afg3l1 T C 8: 124,212,748 (GRCm39) F170L probably damaging Het
Aox1 A T 1: 58,398,158 (GRCm39) R1300* probably null Het
Cadps G A 14: 12,473,465 (GRCm38) R899C probably damaging Het
Ckap4 T C 10: 84,364,454 (GRCm39) D203G probably damaging Het
Dsg1c A G 18: 20,408,249 (GRCm39) N433D probably damaging Het
Eapp T C 12: 54,739,607 (GRCm39) N70S probably damaging Het
Eno3 A T 11: 70,552,853 (GRCm39) D378V probably damaging Het
Ep400 T A 5: 110,881,638 (GRCm39) probably benign Het
F13a1 T A 13: 37,082,031 (GRCm39) I558F probably damaging Het
Fermt1 A T 2: 132,776,786 (GRCm39) M234K possibly damaging Het
Fgfr1op2 A G 6: 146,490,344 (GRCm39) Q81R probably damaging Het
Gpm6a C T 8: 55,511,954 (GRCm39) A276V probably damaging Het
Hecw1 C A 13: 14,531,821 (GRCm39) probably benign Het
Ikbip G T 10: 90,932,154 (GRCm39) C266F probably damaging Het
Lpar2 C T 8: 70,276,700 (GRCm39) A163V probably benign Het
Med17 T A 9: 15,181,657 (GRCm39) H31L probably damaging Het
Or5g25 C A 2: 85,478,487 (GRCm39) M59I probably damaging Het
Otoa T C 7: 120,755,053 (GRCm39) F992L probably damaging Het
Ptprd T C 4: 75,900,287 (GRCm39) H864R probably damaging Het
Samd9l A C 6: 3,375,760 (GRCm39) C500W possibly damaging Het
Sarm1 A T 11: 78,378,178 (GRCm39) Y501N probably damaging Het
Selp A T 1: 163,957,702 (GRCm39) H277L probably damaging Het
Slc39a8 T G 3: 135,590,381 (GRCm39) L358R probably damaging Het
Spi1 T A 2: 90,927,295 (GRCm39) M1K probably null Het
Thsd1 A G 8: 22,748,743 (GRCm39) E477G probably damaging Het
Tlr1 C T 5: 65,084,059 (GRCm39) V173M probably damaging Het
Tmco2 C T 4: 120,962,987 (GRCm39) D171N probably damaging Het
Ugt2b1 A G 5: 87,065,563 (GRCm39) L492P probably damaging Het
Vmn2r70 A T 7: 85,214,153 (GRCm39) I333K probably damaging Het
Zfp598 C A 17: 24,896,478 (GRCm39) P185Q probably damaging Het
Zscan18 T C 7: 12,509,206 (GRCm39) probably benign 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
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