Incidental Mutation 'R8394:Zfp217'
ID 647518
Institutional Source Beutler Lab
Gene Symbol Zfp217
Ensembl Gene ENSMUSG00000052056
Gene Name zinc finger protein 217
Synonyms 4933431C08Rik
MMRRC Submission 067758-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.923) question?
Stock # R8394 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 169950563-169990023 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 169961571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 252 (S252F)
Ref Sequence ENSEMBL: ENSMUSP00000067334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063710] [ENSMUST00000109155]
AlphaFold Q3U0X6
Predicted Effect possibly damaging
Transcript: ENSMUST00000063710
AA Change: S252F

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000067334
Gene: ENSMUSG00000052056
AA Change: S252F

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 possibly damaging
Transcript: ENSMUST00000109155
AA Change: S252F

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104783
Gene: ENSMUSG00000052056
AA Change: S252F

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
Meta Mutation Damage Score 0.0933 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik T C 14: 59,379,623 (GRCm39) N137S probably benign Het
4930505A04Rik T A 11: 30,404,880 (GRCm39) probably null Het
Abcc8 A G 7: 45,803,977 (GRCm39) I399T probably benign Het
Aldh3b2 A C 19: 4,029,461 (GRCm39) Q278P probably benign Het
Arl8b A G 6: 108,760,244 (GRCm39) D10G possibly damaging Het
Baiap3 T C 17: 25,469,096 (GRCm39) N229S probably benign Het
Chrdl2 T C 7: 99,666,292 (GRCm39) S71P possibly damaging Het
Cmbl A G 15: 31,585,541 (GRCm39) M142V possibly damaging Het
Cpt1b A G 15: 89,306,490 (GRCm39) probably null Het
Crybg3 T C 16: 59,378,651 (GRCm39) K868E probably benign Het
Efl1 A G 7: 82,411,986 (GRCm39) I792V probably benign Het
Evx2 A G 2: 74,486,321 (GRCm39) L356S probably benign Het
Hspa14 C T 2: 3,513,670 (GRCm39) probably null Het
Ighv5-8 C T 12: 113,618,813 (GRCm39) A76V unknown Het
Il7r A G 15: 9,516,504 (GRCm39) F99S probably damaging Het
Klra2 A T 6: 131,222,273 (GRCm39) V6D possibly damaging Het
Lce3c T C 3: 92,852,760 (GRCm39) S74P unknown Het
Nectin2 C T 7: 19,467,137 (GRCm39) probably null Het
Nfil3 A G 13: 53,121,849 (GRCm39) S352P probably benign Het
Nme6 T A 9: 109,664,394 (GRCm39) M1K probably null Het
Or52z13 A T 7: 103,247,404 (GRCm39) I294F probably damaging Het
Otogl A G 10: 107,722,326 (GRCm39) probably null Het
Plcb1 T C 2: 135,159,710 (GRCm39) V391A probably damaging Het
Ptf1a T A 2: 19,450,746 (GRCm39) D25E probably damaging Het
Ralbp1 C T 17: 66,159,748 (GRCm39) R505H probably benign Het
Scube1 T C 15: 83,492,492 (GRCm39) Y944C probably damaging Het
Sdk2 A G 11: 113,729,542 (GRCm39) I1039T probably benign Het
Senp7 G T 16: 55,990,190 (GRCm39) W646L possibly damaging Het
Sphkap A T 1: 83,253,797 (GRCm39) N1317K probably benign Het
Strc G T 2: 121,209,490 (GRCm39) Q278K probably benign Het
Tbc1d30 T A 10: 121,183,013 (GRCm39) R142* probably null Het
Tmtc3 T C 10: 100,282,808 (GRCm39) I916V probably damaging Het
Tomm40l A T 1: 171,048,776 (GRCm39) H79Q probably damaging Het
Txndc12 T A 4: 108,713,420 (GRCm39) probably null Het
Vmn2r2 T C 3: 64,044,858 (GRCm39) N96S probably damaging Het
Vmn2r27 T C 6: 124,168,776 (GRCm39) T785A possibly damaging Het
Zfp462 A G 4: 55,011,862 (GRCm39) D1276G probably damaging 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
R0510: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
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'- TTTCTCTGAGCATGAGTCGTC -3'
(R):5'- TCAATGAAGTGGTCCAGCCG -3'

Sequencing Primer
(F):5'- CTCTGAGCATGAGTCGTCATTGTC -3'
(R):5'- TCATTGAGCACAGCAAGG -3'
Posted On 2020-09-02