Incidental Mutation 'R0510:Zfp217'
ID 47781
Institutional Source Beutler Lab
Gene Symbol Zfp217
Ensembl Gene ENSMUSG00000052056
Gene Name zinc finger protein 217
Synonyms 4933431C08Rik
MMRRC Submission 038704-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.923) question?
Stock # R0510 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 169950563-169990023 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 169957382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 539 (A539T)
Ref Sequence ENSEMBL: ENSMUSP00000104783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063710] [ENSMUST00000109155]
AlphaFold Q3U0X6
Predicted Effect probably benign
Transcript: ENSMUST00000063710
AA Change: A539T

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000067334
Gene: ENSMUSG00000052056
AA Change: A539T

DomainStartEndE-ValueType
ZnF_C2H2 57 80 1.64e-1 SMART
ZnF_C2H2 121 143 9.58e-3 SMART
ZnF_C2H2 149 171 1.47e-3 SMART
ZnF_C2H2 208 230 2.91e-2 SMART
low complexity region 333 348 N/A INTRINSIC
ZnF_C2H2 383 405 1.53e-1 SMART
low complexity region 437 455 N/A INTRINSIC
ZnF_C2H2 478 500 1.36e-2 SMART
ZnF_C2H2 506 528 9.58e-3 SMART
ZnF_C2H2 704 727 2.29e0 SMART
low complexity region 854 874 N/A INTRINSIC
low complexity region 947 960 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109155
AA Change: A539T

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104783
Gene: ENSMUSG00000052056
AA Change: A539T

DomainStartEndE-ValueType
ZnF_C2H2 57 80 1.64e-1 SMART
ZnF_C2H2 121 143 9.58e-3 SMART
ZnF_C2H2 149 171 1.47e-3 SMART
ZnF_C2H2 208 230 2.91e-2 SMART
low complexity region 333 348 N/A INTRINSIC
ZnF_C2H2 383 405 1.53e-1 SMART
low complexity region 437 455 N/A INTRINSIC
ZnF_C2H2 478 500 1.36e-2 SMART
ZnF_C2H2 506 528 9.58e-3 SMART
ZnF_C2H2 704 727 2.29e0 SMART
low complexity region 854 874 N/A INTRINSIC
low complexity region 947 960 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149088
Meta Mutation Damage Score 0.1431 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.2%
Validation Efficiency 99% (102/103)
Allele List at MGI
Other mutations in this stock
Total: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,125,482 (GRCm39) I67T probably damaging Het
Acoxl G A 2: 127,722,423 (GRCm39) probably null Het
Adam10 T A 9: 70,655,530 (GRCm39) W333R probably damaging Het
Ahnak C T 19: 8,995,596 (GRCm39) R5627* probably null Het
Alms1 A T 6: 85,597,351 (GRCm39) R1195* probably null Het
Ap2m1 T A 16: 20,360,990 (GRCm39) I334N possibly damaging Het
Brd8dc A T 18: 34,729,204 (GRCm39) D42E probably damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Ccdc110 T A 8: 46,388,194 (GRCm39) N50K probably benign Het
Ccdc168 T A 1: 44,100,257 (GRCm39) K280N possibly damaging Het
Cdhr1 T C 14: 36,802,633 (GRCm39) Y610C probably damaging Het
Cdkal1 C A 13: 29,875,579 (GRCm39) probably null Het
Celsr3 G A 9: 108,704,204 (GRCm39) C229Y possibly damaging Het
Clca4b A T 3: 144,619,112 (GRCm39) Y676N probably damaging Het
Col11a1 A T 3: 113,899,105 (GRCm39) probably benign Het
Cpe T A 8: 65,064,501 (GRCm39) I233F probably damaging Het
Cpsf1 A T 15: 76,487,857 (GRCm39) probably benign Het
Cpsf2 T C 12: 101,955,045 (GRCm39) V272A probably damaging Het
Creld2 A T 15: 88,704,159 (GRCm39) N50I probably damaging Het
Cyb5r1 T C 1: 134,337,430 (GRCm39) probably benign Het
Dcaf11 T C 14: 55,806,537 (GRCm39) V446A probably damaging Het
Defa34 A G 8: 22,155,988 (GRCm39) probably null Het
Dgat1 T C 15: 76,395,767 (GRCm39) Y72C possibly damaging Het
Efr3b G T 12: 4,032,058 (GRCm39) D183E probably benign Het
Enpp3 A T 10: 24,652,679 (GRCm39) D759E probably damaging Het
Epyc A G 10: 97,485,625 (GRCm39) T22A probably benign Het
Etfbkmt C T 6: 149,052,082 (GRCm39) R96W probably benign Het
Fam83b G T 9: 76,400,108 (GRCm39) L332I possibly damaging Het
Fat3 C A 9: 15,910,981 (GRCm39) E1674* probably null Het
Fbn1 A G 2: 125,184,845 (GRCm39) probably benign Het
Gm5134 C A 10: 75,810,079 (GRCm39) T120N probably benign Het
Gmip C T 8: 70,268,259 (GRCm39) probably benign Het
Gpbp1 G T 13: 111,577,279 (GRCm39) Q204K possibly damaging Het
Gpr108 T C 17: 57,542,358 (GRCm39) D549G possibly damaging Het
Gsdme C A 6: 50,223,107 (GRCm39) probably benign Het
Gucy2e T C 11: 69,126,402 (GRCm39) D326G probably benign Het
H2-Eb2 C T 17: 34,553,218 (GRCm39) Q135* probably null Het
Hectd4 T A 5: 121,419,959 (GRCm39) Y635N possibly damaging Het
Hectd4 G A 5: 121,443,736 (GRCm39) E1319K possibly damaging Het
Hs3st2 T C 7: 121,099,792 (GRCm39) S213P probably damaging Het
Ikbkb A T 8: 23,161,651 (GRCm39) C412* probably null Het
Itpr2 T C 6: 146,319,477 (GRCm39) T188A possibly damaging Het
Kcnh1 T A 1: 192,101,249 (GRCm39) probably benign Het
Kctd21 T C 7: 96,996,748 (GRCm39) F74L probably damaging Het
Krt23 T A 11: 99,377,608 (GRCm39) I133L probably damaging Het
Krt74 T C 15: 101,671,751 (GRCm39) noncoding transcript Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lmtk3 T A 7: 45,443,536 (GRCm39) L740M possibly damaging Het
Lrrc10 T A 10: 116,881,695 (GRCm39) L123Q probably damaging Het
Map1a A T 2: 121,136,255 (GRCm39) H2357L probably benign Het
Mbl1 A G 14: 40,880,706 (GRCm39) N198S probably damaging Het
Mcf2l A G 8: 13,047,337 (GRCm39) D233G probably damaging Het
Msto1 A G 3: 88,818,848 (GRCm39) L269P probably benign Het
Mtss1 A T 15: 58,828,387 (GRCm39) D175E probably benign Het
Myef2 A T 2: 124,950,954 (GRCm39) probably benign Het
Neb A T 2: 52,180,755 (GRCm39) probably benign Het
Or14a259 T C 7: 86,013,035 (GRCm39) N170S probably benign Het
Or4a39 A T 2: 89,237,135 (GRCm39) M96K probably damaging Het
Or5w15 A G 2: 87,567,825 (GRCm39) V281A probably damaging Het
Parp2 T A 14: 51,057,130 (GRCm39) Y361N probably damaging Het
Parp3 A G 9: 106,348,995 (GRCm39) F466L possibly damaging Het
Pcdh15 A T 10: 74,126,808 (GRCm39) N296Y probably damaging Het
Pdzrn3 A T 6: 101,128,014 (GRCm39) I884N probably damaging Het
Pim1 T C 17: 29,712,883 (GRCm39) probably benign Het
Pou6f2 A G 13: 18,314,308 (GRCm39) probably benign Het
Prelid3b A G 2: 174,307,743 (GRCm39) probably benign Het
Proc G A 18: 32,258,171 (GRCm39) T258I probably benign Het
Rab3gap2 T C 1: 184,992,705 (GRCm39) probably benign Het
Rb1cc1 A C 1: 6,319,395 (GRCm39) K938T probably benign Het
Rem2 T C 14: 54,713,754 (GRCm39) probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rin2 A G 2: 145,702,953 (GRCm39) K550E probably benign Het
Rps6ka4 G T 19: 6,817,866 (GRCm39) T17N probably benign Het
Rtn4 T A 11: 29,683,849 (GRCm39) probably benign Het
Ruvbl2 C T 7: 45,080,730 (GRCm39) probably benign Het
Scaper A G 9: 55,665,346 (GRCm39) probably benign Het
Sdc2 T C 15: 33,017,235 (GRCm39) probably benign Het
Semp2l1 T A 1: 32,584,956 (GRCm39) N318I possibly damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slco2b1 T A 7: 99,310,743 (GRCm39) M603L probably benign Het
Smpdl3b A G 4: 132,472,449 (GRCm39) V108A probably damaging Het
Sptbn4 C T 7: 27,060,991 (GRCm39) probably null Het
Srrm1 G A 4: 135,065,854 (GRCm39) probably benign Het
Ssh1 A T 5: 114,084,766 (GRCm39) D448E probably benign Het
Ssmem1 A T 6: 30,519,547 (GRCm39) probably null Het
Sv2b T G 7: 74,786,140 (GRCm39) M427L probably benign Het
Syne1 A G 10: 5,317,600 (GRCm39) L498P probably damaging Het
Syne2 T C 12: 75,900,923 (GRCm39) probably null Het
Taf6l G T 19: 8,755,885 (GRCm39) H254Q probably benign Het
Traf3ip3 T A 1: 192,860,539 (GRCm39) probably null Het
Trpm1 G A 7: 63,873,506 (GRCm39) G587D probably damaging Het
Ttn A G 2: 76,560,756 (GRCm39) V29215A probably damaging Het
Ubr4 T G 4: 139,157,534 (GRCm39) S2364A probably benign Het
Ush2a T A 1: 188,466,860 (GRCm39) probably benign Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r57 A T 7: 41,077,216 (GRCm39) S317T possibly damaging Het
Vwa2 A G 19: 56,886,500 (GRCm39) probably benign Het
Wdr73 G A 7: 80,547,698 (GRCm39) Q107* probably null Het
Zbtb10 T A 3: 9,329,728 (GRCm39) V362E probably damaging Het
Zfp296 A T 7: 19,311,831 (GRCm39) M113L probably benign Het
Zfp729b A T 13: 67,739,253 (GRCm39) V1004E probably benign Het
Other mutations in Zfp217
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02021:Zfp217 APN 2 169,957,069 (GRCm39) missense probably benign
IGL02412:Zfp217 APN 2 169,954,422 (GRCm39) utr 3 prime probably benign
IGL02435:Zfp217 APN 2 169,961,373 (GRCm39) missense possibly damaging 0.56
IGL03152:Zfp217 APN 2 169,960,972 (GRCm39) missense probably damaging 1.00
PIT4581001:Zfp217 UTSW 2 169,956,503 (GRCm39) missense probably benign 0.01
R0107:Zfp217 UTSW 2 169,956,794 (GRCm39) nonsense probably null
R0109:Zfp217 UTSW 2 169,957,382 (GRCm39) missense probably benign 0.31
R0109:Zfp217 UTSW 2 169,957,382 (GRCm39) missense probably benign 0.31
R0110:Zfp217 UTSW 2 169,957,382 (GRCm39) missense probably benign 0.31
R0180:Zfp217 UTSW 2 169,962,057 (GRCm39) missense probably damaging 1.00
R0200:Zfp217 UTSW 2 169,957,382 (GRCm39) missense probably benign 0.31
R0279:Zfp217 UTSW 2 169,961,700 (GRCm39) missense probably benign 0.28
R0395:Zfp217 UTSW 2 169,957,382 (GRCm39) missense probably benign 0.31
R0396:Zfp217 UTSW 2 169,957,382 (GRCm39) missense probably benign 0.31
R0453:Zfp217 UTSW 2 169,957,382 (GRCm39) missense probably benign 0.31
R0512:Zfp217 UTSW 2 169,957,382 (GRCm39) missense probably benign 0.31
R0513:Zfp217 UTSW 2 169,957,382 (GRCm39) missense probably benign 0.31
R0653:Zfp217 UTSW 2 169,957,382 (GRCm39) missense probably benign 0.31
R1549:Zfp217 UTSW 2 169,956,390 (GRCm39) missense probably benign 0.00
R3420:Zfp217 UTSW 2 169,961,937 (GRCm39) missense possibly damaging 0.90
R3421:Zfp217 UTSW 2 169,961,937 (GRCm39) missense possibly damaging 0.90
R3422:Zfp217 UTSW 2 169,961,937 (GRCm39) missense possibly damaging 0.90
R3726:Zfp217 UTSW 2 169,961,130 (GRCm39) missense probably damaging 0.96
R3731:Zfp217 UTSW 2 169,956,308 (GRCm39) missense probably benign 0.31
R3926:Zfp217 UTSW 2 169,954,438 (GRCm39) missense probably damaging 1.00
R4051:Zfp217 UTSW 2 169,954,536 (GRCm39) critical splice acceptor site probably null
R4289:Zfp217 UTSW 2 169,956,707 (GRCm39) missense probably benign 0.01
R4606:Zfp217 UTSW 2 169,961,670 (GRCm39) missense possibly damaging 0.67
R4948:Zfp217 UTSW 2 169,961,130 (GRCm39) missense probably damaging 0.96
R5113:Zfp217 UTSW 2 169,955,978 (GRCm39) splice site probably null
R5734:Zfp217 UTSW 2 169,961,064 (GRCm39) missense possibly damaging 0.57
R6228:Zfp217 UTSW 2 169,961,497 (GRCm39) missense probably benign 0.01
R6452:Zfp217 UTSW 2 169,961,214 (GRCm39) missense probably benign
R6782:Zfp217 UTSW 2 169,958,178 (GRCm39) missense probably damaging 1.00
R7212:Zfp217 UTSW 2 169,956,072 (GRCm39) missense probably benign 0.41
R8094:Zfp217 UTSW 2 169,961,571 (GRCm39) missense possibly damaging 0.82
R8095:Zfp217 UTSW 2 169,961,571 (GRCm39) missense possibly damaging 0.82
R8119:Zfp217 UTSW 2 169,961,571 (GRCm39) missense possibly damaging 0.82
R8120:Zfp217 UTSW 2 169,961,571 (GRCm39) missense possibly damaging 0.82
R8134:Zfp217 UTSW 2 169,961,571 (GRCm39) missense possibly damaging 0.82
R8136:Zfp217 UTSW 2 169,961,571 (GRCm39) missense possibly damaging 0.82
R8150:Zfp217 UTSW 2 169,961,571 (GRCm39) missense possibly damaging 0.82
R8151:Zfp217 UTSW 2 169,961,571 (GRCm39) missense possibly damaging 0.82
R8152:Zfp217 UTSW 2 169,961,571 (GRCm39) missense possibly damaging 0.82
R8343:Zfp217 UTSW 2 169,962,024 (GRCm39) missense probably damaging 1.00
R8394:Zfp217 UTSW 2 169,961,571 (GRCm39) missense possibly damaging 0.82
R8395:Zfp217 UTSW 2 169,961,571 (GRCm39) missense possibly damaging 0.82
R8396:Zfp217 UTSW 2 169,961,571 (GRCm39) missense possibly damaging 0.82
R8885:Zfp217 UTSW 2 169,956,391 (GRCm39) missense probably benign 0.00
R8970:Zfp217 UTSW 2 169,956,997 (GRCm39) missense possibly damaging 0.61
R9631:Zfp217 UTSW 2 169,956,790 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- TGCATGTCCAGATAAGTAGGGGCAG -3'
(R):5'- AGGGAACAGCCCATGTTTGGTG -3'

Sequencing Primer
(F):5'- ATGGAAATCCTGAGTATCGTTGC -3'
(R):5'- CATAGCTTGCTTAGCTTGCAGAG -3'
Posted On 2013-06-12