Incidental Mutation 'R5408:Zfp687'
ID 426367
Institutional Source Beutler Lab
Gene Symbol Zfp687
Ensembl Gene ENSMUSG00000019338
Gene Name zinc finger protein 687
Synonyms 4931408L03Rik
MMRRC Submission 042977-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.654) question?
Stock # R5408 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 94913901-94922759 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 94916586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019482] [ENSMUST00000072287] [ENSMUST00000107251] [ENSMUST00000125476] [ENSMUST00000128438] [ENSMUST00000133297] [ENSMUST00000137799] [ENSMUST00000132195] [ENSMUST00000167008] [ENSMUST00000149747]
AlphaFold Q9D2D7
Predicted Effect probably benign
Transcript: ENSMUST00000019482
SMART Domains Protein: ENSMUSP00000019482
Gene: ENSMUSG00000019338

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 probably benign
Transcript: ENSMUST00000072287
SMART Domains Protein: ENSMUSP00000072134
Gene: ENSMUSG00000038861

DomainStartEndE-ValueType
low complexity region 10 31 N/A INTRINSIC
SCOP:d1e8xa1 140 231 5e-22 SMART
PI3Kc 545 799 6.47e-105 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107251
SMART Domains Protein: ENSMUSP00000102872
Gene: ENSMUSG00000038861

DomainStartEndE-ValueType
low complexity region 10 31 N/A INTRINSIC
SCOP:d1e8xa1 140 231 5e-22 SMART
PI3Kc 560 814 6.47e-105 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125476
SMART Domains Protein: ENSMUSP00000121965
Gene: ENSMUSG00000038861

DomainStartEndE-ValueType
low complexity region 22 43 N/A INTRINSIC
SCOP:d1e8xa1 152 243 5e-22 SMART
PI3Kc 572 826 6.47e-105 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126222
Predicted Effect probably benign
Transcript: ENSMUST00000128438
SMART Domains Protein: ENSMUSP00000119354
Gene: ENSMUSG00000019338

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146169
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133166
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133494
Predicted Effect probably benign
Transcript: ENSMUST00000133297
SMART Domains Protein: ENSMUSP00000123529
Gene: ENSMUSG00000038861

DomainStartEndE-ValueType
PI3Kc 1 225 7.13e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137799
SMART Domains Protein: ENSMUSP00000123335
Gene: ENSMUSG00000019338

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 benign
Transcript: ENSMUST00000132195
SMART Domains Protein: ENSMUSP00000117308
Gene: ENSMUSG00000019338

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
low complexity region 170 186 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167008
SMART Domains Protein: ENSMUSP00000132150
Gene: ENSMUSG00000038861

DomainStartEndE-ValueType
PI3Kc 228 482 6.47e-105 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149747
SMART Domains Protein: ENSMUSP00000116053
Gene: ENSMUSG00000019338

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (74/75)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430110L20Rik A G 1: 181,054,979 (GRCm39) noncoding transcript Het
Actn2 T C 13: 12,285,681 (GRCm39) I837V probably benign Het
Adora1 T A 1: 134,130,901 (GRCm39) T257S probably benign Het
Akap9 T A 5: 4,108,458 (GRCm39) M2954K possibly damaging Het
Akr1c13 G T 13: 4,244,715 (GRCm39) A98S probably benign Het
Aldh2 C T 5: 121,708,620 (GRCm39) probably benign Het
Ank1 A G 8: 23,572,209 (GRCm39) N48D probably damaging Het
Ash1l A G 3: 88,889,701 (GRCm39) T527A probably damaging Het
Atp13a1 T C 8: 70,249,490 (GRCm39) V251A probably benign Het
Baz1a A T 12: 54,969,835 (GRCm39) D608E probably damaging Het
Bend5 A T 4: 111,311,280 (GRCm39) probably null Het
Blm T G 7: 80,152,370 (GRCm39) T526P probably benign Het
Cacna1a T C 8: 85,276,336 (GRCm39) V559A probably damaging Het
Cacna2d4 A G 6: 119,325,752 (GRCm39) D1042G probably damaging Het
Cadps T C 14: 12,705,759 (GRCm38) H212R possibly damaging Het
Cdh3 T C 8: 107,263,269 (GRCm39) I106T probably damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Cfap68 T C 9: 50,676,057 (GRCm39) N87S probably damaging Het
Col16a1 A T 4: 129,986,898 (GRCm39) probably benign Het
Dctn6 C T 8: 34,562,056 (GRCm39) V89I possibly damaging Het
Dgkz C A 2: 91,766,168 (GRCm39) G798W possibly damaging Het
Epb41l2 A T 10: 25,343,992 (GRCm39) probably null Het
Fam171a2 T C 11: 102,328,344 (GRCm39) K805R possibly damaging Het
Fam89b G T 19: 5,779,421 (GRCm39) Y45* probably null Het
Fchsd2 A G 7: 100,920,781 (GRCm39) N462S possibly damaging Het
Fyco1 T G 9: 123,658,568 (GRCm39) H536P probably damaging Het
Galnt12 A T 4: 47,104,169 (GRCm39) E142D probably damaging Het
Gspt1 C T 16: 11,071,719 (GRCm39) G48D probably benign Het
H6pd A G 4: 150,067,322 (GRCm39) S355P probably damaging Het
Hectd2 T C 19: 36,532,296 (GRCm39) V38A possibly damaging Het
Jup C T 11: 100,267,607 (GRCm39) R572Q probably damaging Het
Kcng3 T C 17: 83,938,434 (GRCm39) D205G probably benign Het
Kif13b A T 14: 65,017,138 (GRCm39) probably null Het
Mapk3 A G 7: 126,363,007 (GRCm39) D253G probably damaging Het
Methig1 A T 15: 100,281,635 (GRCm39) Y253F possibly damaging Het
Mmp3 T C 9: 7,449,904 (GRCm39) S263P probably damaging Het
Mpo T A 11: 87,691,851 (GRCm39) probably null Het
Nbeal2 C A 9: 110,466,588 (GRCm39) G772W possibly damaging Het
Nr1d1 T A 11: 98,661,087 (GRCm39) H393L probably benign Het
Obscn A G 11: 58,942,437 (GRCm39) V4915A probably damaging Het
Olfml2b T A 1: 170,472,545 (GRCm39) W19R probably damaging Het
Or13p4 T C 4: 118,547,641 (GRCm39) T3A probably benign Het
Or56b1b C T 7: 108,164,376 (GRCm39) A209T probably damaging Het
Padi6 G A 4: 140,454,996 (GRCm39) T647I probably damaging Het
Pcyox1 A G 6: 86,369,280 (GRCm39) L113S probably damaging Het
Pde4dip T A 3: 97,704,052 (GRCm39) T192S probably benign Het
Pip4k2a T C 2: 18,911,119 (GRCm39) H87R probably benign Het
Pkd1l3 C A 8: 110,393,684 (GRCm39) T2004N probably damaging Het
Prex1 CGTTGTTGTTGT CGTTGTTGTTGTTGT 2: 166,417,573 (GRCm39) probably benign Het
Ptprz1 C T 6: 23,002,599 (GRCm39) T1563I probably damaging Het
Reg3b T C 6: 78,350,215 (GRCm39) V165A probably benign Het
Rreb1 A G 13: 38,115,320 (GRCm39) D893G probably benign Het
Sap18 A T 14: 58,039,431 (GRCm39) M78L probably benign Het
Scaper A T 9: 55,493,508 (GRCm39) F1226I probably damaging Het
Scyl3 A T 1: 163,782,245 (GRCm39) probably null Het
Shoc2 A G 19: 53,976,556 (GRCm39) M149V probably benign Het
Slc7a2 G A 8: 41,368,042 (GRCm39) R602K probably damaging Het
Sox30 A G 11: 45,882,694 (GRCm39) I575V possibly damaging Het
Trim14 A T 4: 46,507,134 (GRCm39) C361S possibly damaging Het
Ttn T C 2: 76,731,272 (GRCm39) probably benign Het
Uncx A T 5: 139,530,245 (GRCm39) K108* probably null Het
Usp54 A T 14: 20,600,501 (GRCm39) L1412Q probably damaging Het
Uty A G Y: 1,245,614 (GRCm39) V6A possibly damaging Het
Vmn1r30 C T 6: 58,412,029 (GRCm39) V268I probably benign Het
Wdsub1 T C 2: 59,691,887 (GRCm39) probably benign Het
Wipf3 A G 6: 54,458,896 (GRCm39) I84V probably benign Het
Xcr1 T A 9: 123,685,631 (GRCm39) I44F probably benign Het
Zfp729b A T 13: 67,739,563 (GRCm39) S901T probably benign Het
Zhx1 A T 15: 57,915,819 (GRCm39) M809K probably damaging Het
Zswim9 T C 7: 12,994,753 (GRCm39) K468E possibly damaging Het
Other mutations in Zfp687
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Zfp687 APN 3 94,919,727 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGTAGCCATTCCCTAGCCTTTG -3'
(R):5'- CGAAGTTTTCCACAAGTGCCC -3'

Sequencing Primer
(F):5'- GTACCTTGAGATGCTCCAGC -3'
(R):5'- TCCACAAGTGCCCCATCTG -3'
Posted On 2016-09-01