Incidental Mutation 'R9786:Zfp687'
ID 734318
Institutional Source Beutler Lab
Gene Symbol Zfp687
Ensembl Gene ENSMUSG00000019338
Gene Name zinc finger protein 687
Synonyms 4931408L03Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.654) question?
Stock # R9786 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 94913901-94922759 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) C to T at 94919768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 1 (M1I)
Ref Sequence ENSEMBL: ENSMUSP00000019482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019482] [ENSMUST00000128438] [ENSMUST00000132195] [ENSMUST00000137799] [ENSMUST00000149747]
AlphaFold Q9D2D7
Predicted Effect probably null
Transcript: ENSMUST00000019482
AA Change: M1I

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000019482
Gene: ENSMUSG00000019338
AA Change: M1I

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 null
Transcript: ENSMUST00000128438
AA Change: M1I

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119354
Gene: ENSMUSG00000019338
AA Change: M1I

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000132195
AA Change: M1I

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117308
Gene: ENSMUSG00000019338
AA Change: M1I

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
low complexity region 170 186 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000137799
AA Change: M1I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123335
Gene: ENSMUSG00000019338
AA Change: M1I

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 null
Transcript: ENSMUST00000149747
AA Change: M1I

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000116053
Gene: ENSMUSG00000019338
AA Change: M1I

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.2%
  • 20x: 97.9%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T A 9: 99,502,536 (GRCm39) M232K possibly damaging Het
Abcc1 T C 16: 14,222,927 (GRCm39) S243P probably damaging Het
Acsl1 T C 8: 46,974,486 (GRCm39) Y320H probably damaging Het
Adam11 A G 11: 102,653,090 (GRCm39) S61G probably benign Het
Adamts1 G A 16: 85,592,302 (GRCm39) T965I probably benign Het
Adcyap1r1 T A 6: 55,456,182 (GRCm39) M190K probably damaging Het
Ankrd2 T A 19: 42,033,358 (GRCm39) L300Q Het
Ankrd27 A T 7: 35,291,294 (GRCm39) Q30L possibly damaging Het
Atp8b5 T A 4: 43,305,798 (GRCm39) I114K probably damaging Het
Atrn A T 2: 130,786,809 (GRCm39) I205F probably damaging Het
BC035947 A G 1: 78,488,561 (GRCm39) probably benign Het
Boc C T 16: 44,311,692 (GRCm39) R677H Het
Calhm6 A G 10: 34,003,643 (GRCm39) F88S probably benign Het
Ccdc121rt3 T A 5: 112,502,939 (GRCm39) E255V probably benign Het
Dpysl3 G T 18: 43,462,922 (GRCm39) T485K probably damaging Het
Esyt3 T C 9: 99,194,038 (GRCm39) D867G possibly damaging Het
Fam178b G A 1: 36,603,517 (GRCm39) T478I probably damaging Het
Foxd2 G T 4: 114,764,850 (GRCm39) T390K possibly damaging Het
Furin A G 7: 80,040,645 (GRCm39) V731A probably benign Het
Grin2a T A 16: 9,471,466 (GRCm39) I601F possibly damaging Het
Hat1 G A 2: 71,250,959 (GRCm39) R169Q possibly damaging Het
Ighe G C 12: 113,236,851 (GRCm39) Q6E Het
Ighv8-2 T C 12: 114,426,179 (GRCm39) I31V probably benign Het
Klk1 A G 7: 43,878,104 (GRCm39) D120G probably damaging Het
Kmt2e A G 5: 23,702,982 (GRCm39) D1054G probably benign Het
Lamp5 A T 2: 135,910,998 (GRCm39) I244F probably damaging Het
Maco1 A T 4: 134,557,993 (GRCm39) Y173* probably null Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mfsd4b1 T C 10: 39,878,865 (GRCm39) E344G probably damaging Het
Mns1 A G 9: 72,346,556 (GRCm39) K13R probably benign Het
Mrpl43 C T 19: 44,994,346 (GRCm39) S91N probably benign Het
Mtbp T C 15: 55,481,032 (GRCm39) S706P probably benign Het
Nelfb A T 2: 25,095,145 (GRCm39) V348D probably damaging Het
Or1l8 T A 2: 36,817,416 (GRCm39) K237* probably null Het
Or5p72 A T 7: 108,021,924 (GRCm39) I49F probably benign Het
Or7g20 C T 9: 18,947,241 (GRCm39) A274V possibly damaging Het
Or8k18 G A 2: 86,085,428 (GRCm39) S203L probably benign Het
Or8s8 T C 15: 98,354,713 (GRCm39) I174T possibly damaging Het
Pde6c T C 19: 38,140,009 (GRCm39) I324T possibly damaging Het
Phlpp2 T A 8: 110,660,655 (GRCm39) L770* probably null Het
Pik3c2b T A 1: 133,019,338 (GRCm39) F1029I possibly damaging Het
Rfx2 A T 17: 57,087,890 (GRCm39) S500R probably benign Het
Sarm1 T C 11: 78,365,743 (GRCm39) M761V probably benign Het
Serpina1a A G 12: 103,822,140 (GRCm39) L264P possibly damaging Het
Slc37a1 G T 17: 31,556,965 (GRCm39) G377V probably damaging Het
Slc38a4 T A 15: 96,906,378 (GRCm39) M364L probably damaging Het
Slc7a15 A G 12: 8,580,280 (GRCm39) F384S probably benign Het
Smyd4 T C 11: 75,281,625 (GRCm39) V366A probably benign Het
Spata31d1b T A 13: 59,866,155 (GRCm39) V1101D possibly damaging Het
Spata31d1e C T 13: 59,890,498 (GRCm39) D441N possibly damaging Het
Stab2 C A 10: 86,757,997 (GRCm39) M1090I probably benign Het
Tex15 C T 8: 34,062,457 (GRCm39) T903I probably damaging Het
Tgds A T 14: 118,368,049 (GRCm39) Y41* probably null Het
Tle4 G T 19: 14,495,304 (GRCm39) H142N probably benign Het
Tlx2 T C 6: 83,046,274 (GRCm39) probably null Het
Tmem151a C G 19: 5,131,869 (GRCm39) A446P probably damaging Het
Tmem205 A T 9: 21,832,496 (GRCm39) D138E probably damaging Het
Tmprss9 A G 10: 80,734,042 (GRCm39) K1009E unknown Het
Tnk2 T A 16: 32,498,875 (GRCm39) C729* probably null Het
Trim46 T A 3: 89,142,399 (GRCm39) D696V probably damaging Het
Tuba3b G A 6: 145,564,482 (GRCm39) R84Q probably benign Het
Unc119b C T 5: 115,263,521 (GRCm39) D228N probably damaging Het
Usp17la A G 7: 104,510,864 (GRCm39) T490A probably benign Het
Zfp267 T A 3: 36,219,853 (GRCm39) C625* probably null Het
Zfp729a T C 13: 67,768,628 (GRCm39) T534A possibly damaging Het
Zfp985 A T 4: 147,668,047 (GRCm39) H305L probably benign Het
Zscan10 C T 17: 23,828,330 (GRCm39) Q291* 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
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
Z1176:Zfp687 UTSW 3 94,915,012 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGACTCTCAGGGTCATTCTCAG -3'
(R):5'- AACCTGATTTTAGGGTTTGGCAC -3'

Sequencing Primer
(F):5'- AGGGTCATTCTCAGCGGCTG -3'
(R):5'- GGGTTTGGCACACTGAATACTTCAAG -3'
Posted On 2022-11-14