Incidental Mutation 'R6306:Zfp647'
ID 509701
Institutional Source Beutler Lab
Gene Symbol Zfp647
Ensembl Gene ENSMUSG00000054967
Gene Name zinc finger protein 647
Synonyms
MMRRC Submission 044468-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R6306 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 76794571-76809648 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 76796285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 125 (P125L)
Ref Sequence ENSEMBL: ENSMUSP00000155272 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048854] [ENSMUST00000229055] [ENSMUST00000229865]
AlphaFold Q7TNU6
Predicted Effect probably benign
Transcript: ENSMUST00000048854
AA Change: P125L

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000041575
Gene: ENSMUSG00000054967
AA Change: P125L

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
KRAB 17 77 7.05e-33 SMART
ZnF_C2H2 174 196 3.39e-3 SMART
ZnF_C2H2 202 224 1.2e-3 SMART
ZnF_C2H2 230 252 2.95e-3 SMART
ZnF_C2H2 258 280 4.79e-3 SMART
ZnF_C2H2 286 308 1.84e-4 SMART
ZnF_C2H2 314 336 6.32e-3 SMART
ZnF_C2H2 342 364 7.37e-4 SMART
ZnF_C2H2 370 392 1.6e-4 SMART
ZnF_C2H2 398 420 2.2e-2 SMART
ZnF_C2H2 426 448 6.78e-3 SMART
ZnF_C2H2 454 476 4.87e-4 SMART
ZnF_C2H2 482 504 2.24e-3 SMART
ZnF_C2H2 510 532 9.08e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000229055
AA Change: P125L

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably damaging
Transcript: ENSMUST00000229865
AA Change: P125L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.1789 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (88/88)
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 G A 9: 90,060,331 (GRCm39) probably null Het
Adora2a T A 10: 75,169,238 (GRCm39) V234E probably damaging Het
Alpk1 T C 3: 127,479,965 (GRCm39) D188G probably damaging Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Ankrd17 A G 5: 90,392,013 (GRCm39) F1886L probably benign Het
Anks1 T G 17: 28,269,613 (GRCm39) L769R probably damaging Het
Apol10a A G 15: 77,373,161 (GRCm39) I266V probably benign Het
Arhgef28 T C 13: 98,121,896 (GRCm39) Y556C probably damaging Het
Brd8 T A 18: 34,744,304 (GRCm39) T175S probably damaging Het
Camsap2 C T 1: 136,208,937 (GRCm39) V852I probably benign Het
Cd55b G T 1: 130,341,803 (GRCm39) P278Q probably damaging Het
Cep290 T A 10: 100,367,028 (GRCm39) S1126R possibly damaging Het
Cfh C T 1: 140,030,155 (GRCm39) C906Y probably damaging Het
Chst13 C A 6: 90,286,260 (GRCm39) R234L probably damaging Het
Clcn7 T C 17: 25,376,502 (GRCm39) F611L probably benign Het
Cntnap1 A G 11: 101,075,441 (GRCm39) D873G probably damaging Het
Cntnap5b T C 1: 100,091,871 (GRCm39) I518T probably damaging Het
Col28a1 T C 6: 8,014,969 (GRCm39) E812G probably damaging Het
Cpa1 T C 6: 30,640,953 (GRCm39) I148T probably damaging Het
Cyp11a1 A G 9: 57,932,383 (GRCm39) N232S probably benign Het
Dhrs13 A G 11: 77,923,519 (GRCm39) D79G probably damaging Het
Disp1 T C 1: 182,868,712 (GRCm39) E1236G possibly damaging Het
Dnah1 A C 14: 31,026,544 (GRCm39) L778R probably damaging Het
Dnah14 CTGTG CTG 1: 181,412,589 (GRCm39) probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dock9 A T 14: 121,799,492 (GRCm39) I1729N probably damaging Het
Dysf T C 6: 84,114,248 (GRCm39) V1192A possibly damaging Het
Enpp2 A G 15: 54,762,742 (GRCm39) S169P probably damaging Het
Fam114a2 T G 11: 57,404,972 (GRCm39) R43S probably damaging Het
Fam13a T C 6: 58,917,239 (GRCm39) T546A probably benign Het
Fos A T 12: 85,522,460 (GRCm39) D163V probably damaging Het
Fras1 T C 5: 96,912,805 (GRCm39) Y3370H probably damaging Het
Fshr T C 17: 89,507,961 (GRCm39) N27S probably null Het
Galnt6 A G 15: 100,591,305 (GRCm39) S600P possibly damaging Het
Gars1 T A 6: 55,032,809 (GRCm39) N260K probably damaging Het
Gpr158 C G 2: 21,820,422 (GRCm39) P640A possibly damaging Het
Grep1 T C 17: 23,925,124 (GRCm39) N495S possibly damaging Het
Grik3 A G 4: 125,526,205 (GRCm39) D146G probably benign Het
Hdac4 T C 1: 91,923,896 (GRCm39) T205A probably benign Het
Kcnq3 T C 15: 65,876,643 (GRCm39) D500G probably benign Het
Kmt5c A G 7: 4,749,480 (GRCm39) K333E probably benign Het
Krt81 A G 15: 101,357,404 (GRCm39) S443P probably benign Het
M6pr T C 6: 122,292,121 (GRCm39) probably null Het
Mccc2 T A 13: 100,130,085 (GRCm39) I91L probably benign Het
Nip7 A G 8: 107,785,055 (GRCm39) D110G probably damaging Het
Nol8 T A 13: 49,829,829 (GRCm39) F1093I probably damaging Het
Nrxn1 T C 17: 90,872,874 (GRCm39) T1027A possibly damaging Het
Ofcc1 T A 13: 40,302,052 (GRCm39) M495L probably benign Het
Or13p10 A T 4: 118,523,490 (GRCm39) M259L probably benign Het
Or7e178 A G 9: 20,225,742 (GRCm39) M158T probably benign Het
Pafah1b2 A T 9: 45,886,425 (GRCm39) V81D probably damaging Het
Pcdhga4 A T 18: 37,818,966 (GRCm39) S172C probably damaging Het
Pds5a A G 5: 65,813,639 (GRCm39) V282A probably damaging Het
Plat A G 8: 23,262,282 (GRCm39) D102G possibly damaging Het
Plce1 C A 19: 38,757,909 (GRCm39) Q1961K probably damaging Het
Plppr3 T A 10: 79,697,566 (GRCm39) K444* probably null Het
Plscr3 A G 11: 69,738,472 (GRCm39) probably null Het
Prtg A T 9: 72,813,468 (GRCm39) T943S probably benign Het
Racgap1 A G 15: 99,521,834 (GRCm39) F519L probably benign Het
Rbms2 A T 10: 127,987,050 (GRCm39) probably null Het
Rfx7 A G 9: 72,524,237 (GRCm39) T476A possibly damaging Het
Rnf150 T A 8: 83,810,131 (GRCm39) L421Q possibly damaging Het
Sema3b A G 9: 107,478,119 (GRCm39) L422P possibly damaging Het
Shank2 G A 7: 143,963,417 (GRCm39) A921T probably benign Het
Skint3 A T 4: 112,113,072 (GRCm39) E227D probably damaging Het
Slc25a19 G A 11: 115,508,386 (GRCm39) R201C possibly damaging Het
Slc38a10 G T 11: 120,038,645 (GRCm39) A40D probably damaging Het
Slc5a4b T C 10: 75,917,185 (GRCm39) T284A probably benign Het
Smc1b A T 15: 85,011,824 (GRCm39) F154I probably benign Het
Spry2 A T 14: 106,130,418 (GRCm39) M256K possibly damaging Het
Stkld1 C T 2: 26,833,899 (GRCm39) P129S probably damaging Het
Syce2 T C 8: 85,599,371 (GRCm39) L13S possibly damaging Het
Tbc1d15 C A 10: 115,069,148 (GRCm39) V74L possibly damaging Het
Tecpr2 T A 12: 110,911,185 (GRCm39) V1074D probably damaging Het
Tex36 G A 7: 133,197,054 (GRCm39) T21I probably benign Het
Ttn T G 2: 76,554,454 (GRCm39) D30787A probably damaging Het
Ttn T A 2: 76,622,264 (GRCm39) Q13710L probably benign Het
Usp34 T C 11: 23,362,260 (GRCm39) F1569L possibly damaging Het
Vat1l C T 8: 115,098,391 (GRCm39) A387V probably damaging Het
Vil1 G A 1: 74,460,470 (GRCm39) G209D possibly damaging Het
Vmn1r113 G T 7: 20,521,792 (GRCm39) D195Y probably damaging Het
Vmn2r69 A C 7: 85,064,799 (GRCm39) I29R probably benign Het
Vti1b G A 12: 79,207,323 (GRCm39) Q76* probably null Het
Zfp423 C A 8: 88,508,662 (GRCm39) V540F possibly damaging Het
Zfp644 T C 5: 106,785,990 (GRCm39) N186D probably damaging Het
Zfp787 G A 7: 6,135,360 (GRCm39) A297V probably damaging Het
Zfp827 G T 8: 79,787,324 (GRCm39) Q163H probably damaging Het
Zfp955b T A 17: 33,522,160 (GRCm39) V543E probably benign Het
Other mutations in Zfp647
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01565:Zfp647 APN 15 76,795,870 (GRCm39) nonsense probably null
IGL01680:Zfp647 APN 15 76,801,968 (GRCm39) splice site probably benign
IGL02647:Zfp647 APN 15 76,801,915 (GRCm39) missense probably damaging 1.00
IGL03213:Zfp647 APN 15 76,796,177 (GRCm39) missense possibly damaging 0.46
IGL03401:Zfp647 APN 15 76,795,568 (GRCm39) missense probably damaging 1.00
R0418:Zfp647 UTSW 15 76,795,586 (GRCm39) missense probably damaging 1.00
R1479:Zfp647 UTSW 15 76,795,403 (GRCm39) missense possibly damaging 0.94
R1913:Zfp647 UTSW 15 76,796,151 (GRCm39) missense probably benign 0.02
R1959:Zfp647 UTSW 15 76,795,314 (GRCm39) missense possibly damaging 0.57
R2176:Zfp647 UTSW 15 76,795,860 (GRCm39) missense probably damaging 1.00
R3076:Zfp647 UTSW 15 76,802,209 (GRCm39) start codon destroyed probably null
R3077:Zfp647 UTSW 15 76,802,209 (GRCm39) start codon destroyed probably null
R3701:Zfp647 UTSW 15 76,795,110 (GRCm39) missense probably damaging 1.00
R3702:Zfp647 UTSW 15 76,795,110 (GRCm39) missense probably damaging 1.00
R3960:Zfp647 UTSW 15 76,795,176 (GRCm39) splice site probably null
R4938:Zfp647 UTSW 15 76,795,244 (GRCm39) frame shift probably null
R4939:Zfp647 UTSW 15 76,795,244 (GRCm39) frame shift probably null
R5196:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R5197:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R5345:Zfp647 UTSW 15 76,795,695 (GRCm39) missense possibly damaging 0.48
R5415:Zfp647 UTSW 15 76,795,593 (GRCm39) missense possibly damaging 0.79
R5791:Zfp647 UTSW 15 76,802,206 (GRCm39) missense unknown
R5942:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R5944:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R5945:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R5946:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R5947:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6005:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6007:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6073:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6074:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6101:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6102:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6103:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6126:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6127:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6129:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6136:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6151:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6305:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6329:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6721:Zfp647 UTSW 15 76,796,076 (GRCm39) missense probably benign 0.00
R7158:Zfp647 UTSW 15 76,801,505 (GRCm39) missense probably benign 0.01
R7239:Zfp647 UTSW 15 76,795,956 (GRCm39) missense probably damaging 1.00
R7611:Zfp647 UTSW 15 76,795,988 (GRCm39) missense probably damaging 1.00
R8066:Zfp647 UTSW 15 76,796,095 (GRCm39) missense probably damaging 0.98
R8170:Zfp647 UTSW 15 76,795,571 (GRCm39) missense possibly damaging 0.87
R8346:Zfp647 UTSW 15 76,795,928 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTCCGACCAAAGCACTTTC -3'
(R):5'- GCAAAGCCAGCATTAAGATTGTAC -3'

Sequencing Primer
(F):5'- TTCCACACTCAATGCAGATATAGGG -3'
(R):5'- TTAAAGCAGCCCTTGTAGGTAGCC -3'
Posted On 2018-04-02