Incidental Mutation 'R3763:Zfp687'
ID 270582
Institutional Source Beutler Lab
Gene Symbol Zfp687
Ensembl Gene ENSMUSG00000019338
Gene Name zinc finger protein 687
Synonyms 4931408L03Rik
MMRRC Submission 040873-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.654) question?
Stock # R3763 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 94913901-94922759 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94919391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 127 (N127I)
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: N127I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019482
Gene: ENSMUSG00000019338
AA Change: N127I

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 benign
Transcript: ENSMUST00000128438
SMART Domains Protein: ENSMUSP00000119354
Gene: ENSMUSG00000019338

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000132195
AA Change: N127I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117308
Gene: ENSMUSG00000019338
AA Change: N127I

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: N127I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123335
Gene: ENSMUSG00000019338
AA Change: N127I

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: N127I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116053
Gene: ENSMUSG00000019338
AA Change: N127I

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146169
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151207
Meta Mutation Damage Score 0.2922 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (37/37)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2a A G 2: 48,760,331 (GRCm39) E29G possibly damaging Het
Aff3 A G 1: 38,291,770 (GRCm39) probably benign Het
AW146154 A G 7: 41,129,794 (GRCm39) C441R probably damaging Het
Cacna1a T C 8: 85,310,271 (GRCm39) V1443A possibly damaging Het
Commd1 T A 11: 22,924,102 (GRCm39) F292Y probably benign Het
Ct45a C T X: 55,590,568 (GRCm39) V78I probably benign Het
Ddx18 A G 1: 121,489,106 (GRCm39) Y314H probably damaging Het
Dna2 C T 10: 62,802,576 (GRCm39) T898I probably damaging Het
Epc1 C A 18: 6,440,091 (GRCm39) V59L possibly damaging Het
Etv6 C A 6: 134,239,975 (GRCm39) probably benign Het
Fam118a A G 15: 84,937,998 (GRCm39) D293G possibly damaging Het
Gzmn A C 14: 56,404,361 (GRCm39) S159A probably benign Het
Insc A G 7: 114,390,207 (GRCm39) D26G probably damaging Het
L1td1 A G 4: 98,626,072 (GRCm39) R756G probably damaging Het
Ltk A G 2: 119,582,318 (GRCm39) L499P probably benign Het
Mast4 A T 13: 102,923,927 (GRCm39) L291M probably damaging Het
Nefm G T 14: 68,361,797 (GRCm39) R156S probably damaging Het
Nppc T A 1: 86,597,580 (GRCm39) N63Y probably damaging Het
Or5p79 A T 7: 108,221,924 (GRCm39) I302F probably damaging Het
Or6c69 A G 10: 129,747,314 (GRCm39) S278P probably damaging Het
Pcdhb7 T C 18: 37,474,936 (GRCm39) V24A probably benign Het
Pcm1 C A 8: 41,733,114 (GRCm39) Q787K probably damaging Het
Prg3 A G 2: 84,823,334 (GRCm39) K170E possibly damaging Het
Slc25a54 T C 3: 109,019,370 (GRCm39) S325P probably damaging Het
Slc44a1 T C 4: 53,563,286 (GRCm39) V671A probably benign Het
Spock3 T A 8: 63,597,049 (GRCm39) probably null Het
Stk-ps2 G A 1: 46,069,081 (GRCm39) noncoding transcript Het
Svep1 T G 4: 58,084,833 (GRCm39) D1835A possibly damaging Het
Tmcc3 A G 10: 94,415,179 (GRCm39) T294A probably benign Het
Tsen54 A G 11: 115,711,237 (GRCm39) N62S probably benign Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vmn2r18 G A 5: 151,508,644 (GRCm39) A160V probably damaging Het
Wnk4 T C 11: 101,160,114 (GRCm39) V661A probably benign Het
Zfhx4 A G 3: 5,468,404 (GRCm39) Y2854C probably damaging Het
Zfp563 G T 17: 33,323,902 (GRCm39) E166* probably null Het
Zfp958 T A 8: 4,676,226 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- TCTGGGGCCAGTTCAAAAGG -3'
(R):5'- CTGATCATGGCCTTCCACAACC -3'

Sequencing Primer
(F):5'- AGGTGGGGCCATGTCAC -3'
(R):5'- CACCGGATACTTCTACAGTCAGCG -3'
Posted On 2015-03-18