Incidental Mutation 'IGL00420:Zfp687'
ID 6819
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp687
Ensembl Gene ENSMUSG00000019338
Gene Name zinc finger protein 687
Synonyms 4931408L03Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.654) question?
Stock # IGL00420
Quality Score
Status
Chromosome 3
Chromosomal Location 94913901-94922759 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 94919727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 15 (A15V)
Ref Sequence ENSEMBL: ENSMUSP00000116053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019482] [ENSMUST00000128438] [ENSMUST00000132195] [ENSMUST00000137799] [ENSMUST00000149747]
AlphaFold Q9D2D7
Predicted Effect probably damaging
Transcript: ENSMUST00000019482
AA Change: A15V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019482
Gene: ENSMUSG00000019338
AA Change: A15V

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
low complexity region 170 186 N/A INTRINSIC
low complexity region 296 306 N/A INTRINSIC
low complexity region 312 325 N/A INTRINSIC
ZnF_C2H2 533 553 4.74e1 SMART
ZnF_C2H2 561 585 1.43e1 SMART
low complexity region 615 634 N/A INTRINSIC
low complexity region 639 667 N/A INTRINSIC
ZnF_C2H2 673 693 7.37e1 SMART
ZnF_C2H2 705 727 1.99e0 SMART
ZnF_C2H2 733 757 3.38e1 SMART
ZnF_C2H2 764 787 2.67e-1 SMART
ZnF_C2H2 792 815 4.4e-2 SMART
ZnF_C2H2 827 849 7.67e-2 SMART
ZnF_C2H2 858 881 2.36e-2 SMART
low complexity region 884 898 N/A INTRINSIC
low complexity region 914 938 N/A INTRINSIC
ZnF_C2H2 964 987 4.05e-1 SMART
ZnF_C2H2 994 1017 1.38e-3 SMART
ZnF_C2H2 1024 1050 4.65e-1 SMART
low complexity region 1057 1075 N/A INTRINSIC
low complexity region 1100 1114 N/A INTRINSIC
ZnF_C2H2 1135 1158 4.98e-1 SMART
ZnF_C2H2 1200 1222 1.82e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126222
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128160
Predicted Effect probably damaging
Transcript: ENSMUST00000128438
AA Change: A15V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119354
Gene: ENSMUSG00000019338
AA Change: A15V

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000132195
AA Change: A15V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117308
Gene: ENSMUSG00000019338
AA Change: A15V

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
low complexity region 170 186 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000137799
AA Change: A15V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123335
Gene: ENSMUSG00000019338
AA Change: A15V

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
low complexity region 170 186 N/A INTRINSIC
low complexity region 296 306 N/A INTRINSIC
low complexity region 312 325 N/A INTRINSIC
ZnF_C2H2 533 553 4.74e1 SMART
ZnF_C2H2 561 585 1.43e1 SMART
low complexity region 615 634 N/A INTRINSIC
low complexity region 639 667 N/A INTRINSIC
ZnF_C2H2 673 693 7.37e1 SMART
ZnF_C2H2 705 727 1.99e0 SMART
ZnF_C2H2 733 757 3.38e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000149747
AA Change: A15V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116053
Gene: ENSMUSG00000019338
AA Change: A15V

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146169
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151207
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 C2H2 zinc finger protein. The encoded protein may play a role in bone differentiation and development. Mutations in this gene are the cause of Paget disease of bone-6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adtrp A T 13: 41,931,078 (GRCm39) S170T probably benign Het
Cep55 C A 19: 38,061,887 (GRCm39) Q443K probably damaging Het
Ces1c T C 8: 93,833,301 (GRCm39) E388G probably benign Het
Chd9 T C 8: 91,752,020 (GRCm39) S1753P possibly damaging Het
Cse1l T A 2: 166,769,724 (GRCm39) I343N probably damaging Het
Ctif T G 18: 75,570,247 (GRCm39) M551L possibly damaging Het
Cyp2c29 A G 19: 39,310,143 (GRCm39) probably benign Het
Filip1 G A 9: 79,725,226 (GRCm39) T1131I probably damaging Het
Gm13941 G A 2: 110,922,193 (GRCm39) probably benign Het
Klc3 T C 7: 19,130,220 (GRCm39) E319G possibly damaging Het
Lonrf1 T C 8: 36,697,231 (GRCm39) probably benign Het
Lrba A G 3: 86,267,089 (GRCm39) E1593G probably benign Het
Mroh5 G A 15: 73,664,638 (GRCm39) probably benign Het
Mthfr T A 4: 148,125,727 (GRCm39) M20K probably benign Het
Nsd2 C A 5: 34,040,347 (GRCm39) N960K possibly damaging Het
Osgin1 T A 8: 120,171,785 (GRCm39) V193E probably damaging Het
Pced1a A T 2: 130,261,098 (GRCm39) C420S probably benign Het
Pkd2l1 C T 19: 44,146,075 (GRCm39) probably null Het
Plekhg5 C A 4: 152,186,498 (GRCm39) probably null Het
Prkg2 A G 5: 99,172,400 (GRCm39) V105A probably benign Het
Rab11fip3 A G 17: 26,286,599 (GRCm39) I518T probably benign Het
Rapgef5 T A 12: 117,677,917 (GRCm39) V150D probably damaging Het
Sema4c A G 1: 36,593,001 (GRCm39) probably benign Het
Slc27a2 A G 2: 126,422,837 (GRCm39) E354G probably damaging Het
Slc28a3 A T 13: 58,722,114 (GRCm39) L257I probably benign Het
Slc2a8 G T 2: 32,863,636 (GRCm39) Q469K probably damaging Het
Slc44a1 T C 4: 53,553,550 (GRCm39) V519A possibly damaging Het
Slco6d1 A G 1: 98,359,955 (GRCm39) probably null Het
Strap T C 6: 137,722,521 (GRCm39) S219P probably damaging Het
Tjp1 T C 7: 64,950,967 (GRCm39) I1636V probably benign Het
Tle1 G A 4: 72,087,355 (GRCm39) R126C possibly damaging Het
Traf3 T A 12: 111,205,501 (GRCm39) I94N probably damaging Het
Trps1 G T 15: 50,710,266 (GRCm39) T28K probably benign Het
Unc13c T A 9: 73,643,985 (GRCm39) T1160S probably damaging Het
Vapb G A 2: 173,619,964 (GRCm39) V228M probably benign Het
Wdr3 A T 3: 100,055,424 (GRCm39) D506E probably damaging Het
Zfp119a A T 17: 56,172,792 (GRCm39) C350* probably null Het
Zfp51 A T 17: 21,683,714 (GRCm39) M110L probably benign Het
Zkscan6 A G 11: 65,719,287 (GRCm39) T436A possibly damaging Het
Other mutations in Zfp687
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Zfp687 APN 3 94,915,758 (GRCm39) missense probably damaging 1.00
IGL00824:Zfp687 APN 3 94,916,496 (GRCm39) missense probably damaging 1.00
IGL01861:Zfp687 APN 3 94,919,171 (GRCm39) missense probably damaging 1.00
IGL02167:Zfp687 APN 3 94,917,841 (GRCm39) missense probably benign
IGL02169:Zfp687 APN 3 94,918,743 (GRCm39) missense probably damaging 1.00
IGL02260:Zfp687 APN 3 94,918,575 (GRCm39) missense possibly damaging 0.92
IGL02539:Zfp687 APN 3 94,918,373 (GRCm39) missense probably damaging 0.99
IGL02710:Zfp687 APN 3 94,916,084 (GRCm39) missense probably benign 0.01
IGL02891:Zfp687 APN 3 94,919,257 (GRCm39) missense probably damaging 0.97
IGL03186:Zfp687 APN 3 94,918,405 (GRCm39) missense probably benign
R0006:Zfp687 UTSW 3 94,918,767 (GRCm39) missense probably damaging 0.99
R0006:Zfp687 UTSW 3 94,918,767 (GRCm39) missense probably damaging 0.99
R0243:Zfp687 UTSW 3 94,918,864 (GRCm39) missense probably damaging 0.99
R0556:Zfp687 UTSW 3 94,917,719 (GRCm39) missense probably damaging 1.00
R1111:Zfp687 UTSW 3 94,916,823 (GRCm39) missense probably damaging 1.00
R1170:Zfp687 UTSW 3 94,915,784 (GRCm39) missense probably damaging 1.00
R1236:Zfp687 UTSW 3 94,919,355 (GRCm39) missense probably benign 0.01
R1482:Zfp687 UTSW 3 94,914,844 (GRCm39) missense probably damaging 1.00
R1711:Zfp687 UTSW 3 94,919,200 (GRCm39) missense probably benign 0.00
R2255:Zfp687 UTSW 3 94,917,748 (GRCm39) missense probably damaging 1.00
R3763:Zfp687 UTSW 3 94,919,391 (GRCm39) missense probably damaging 1.00
R3848:Zfp687 UTSW 3 94,915,225 (GRCm39) missense probably damaging 1.00
R3850:Zfp687 UTSW 3 94,915,225 (GRCm39) missense probably damaging 1.00
R4424:Zfp687 UTSW 3 94,916,439 (GRCm39) missense probably damaging 1.00
R4630:Zfp687 UTSW 3 94,919,799 (GRCm39) splice site probably null
R4989:Zfp687 UTSW 3 94,917,697 (GRCm39) missense probably damaging 1.00
R5119:Zfp687 UTSW 3 94,918,987 (GRCm39) missense probably benign 0.28
R5134:Zfp687 UTSW 3 94,917,697 (GRCm39) missense probably damaging 1.00
R5249:Zfp687 UTSW 3 94,916,777 (GRCm39) missense probably damaging 1.00
R5408:Zfp687 UTSW 3 94,916,586 (GRCm39) unclassified probably benign
R5454:Zfp687 UTSW 3 94,916,457 (GRCm39) missense probably damaging 1.00
R5732:Zfp687 UTSW 3 94,918,528 (GRCm39) missense possibly damaging 0.50
R5883:Zfp687 UTSW 3 94,919,355 (GRCm39) missense probably benign 0.01
R6342:Zfp687 UTSW 3 94,919,188 (GRCm39) missense probably benign 0.01
R6395:Zfp687 UTSW 3 94,915,049 (GRCm39) missense possibly damaging 0.48
R6463:Zfp687 UTSW 3 94,918,095 (GRCm39) missense probably damaging 1.00
R6575:Zfp687 UTSW 3 94,915,700 (GRCm39) missense probably damaging 1.00
R6972:Zfp687 UTSW 3 94,916,688 (GRCm39) missense possibly damaging 0.65
R6973:Zfp687 UTSW 3 94,916,688 (GRCm39) missense possibly damaging 0.65
R7087:Zfp687 UTSW 3 94,917,524 (GRCm39) missense probably benign 0.08
R7407:Zfp687 UTSW 3 94,914,841 (GRCm39) missense probably damaging 1.00
R7408:Zfp687 UTSW 3 94,914,841 (GRCm39) missense probably damaging 1.00
R7483:Zfp687 UTSW 3 94,914,841 (GRCm39) missense probably damaging 1.00
R7492:Zfp687 UTSW 3 94,914,841 (GRCm39) missense probably damaging 1.00
R7514:Zfp687 UTSW 3 94,914,841 (GRCm39) missense probably damaging 1.00
R7849:Zfp687 UTSW 3 94,917,673 (GRCm39) missense possibly damaging 0.65
R8438:Zfp687 UTSW 3 94,915,433 (GRCm39) missense probably benign 0.10
R9542:Zfp687 UTSW 3 94,916,442 (GRCm39) missense probably damaging 1.00
R9786:Zfp687 UTSW 3 94,919,768 (GRCm39) start codon destroyed probably null 0.96
Z1176:Zfp687 UTSW 3 94,915,012 (GRCm39) missense probably benign
Posted On 2012-04-20