Incidental Mutation 'R8136:Zfp217'
ID 632246
Institutional Source Beutler Lab
Gene Symbol Zfp217
Ensembl Gene ENSMUSG00000052056
Gene Name zinc finger protein 217
Synonyms 4933431C08Rik
MMRRC Submission 067564-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.923) question?
Stock # R8136 (G1)
Quality Score 225.009
Status 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: 99.8%
  • 3x: 99.6%
  • 10x: 98.9%
  • 20x: 96.7%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,287,556 (GRCm39) M2462L probably benign Het
Aptx A G 4: 40,688,107 (GRCm39) probably null Het
Bmpr1b A G 3: 141,562,143 (GRCm39) I348T probably damaging Het
Btnl1 T A 17: 34,599,014 (GRCm39) probably null Het
Col27a1 T A 4: 63,202,190 (GRCm39) D960E probably benign Het
Crygn G T 5: 24,956,090 (GRCm39) R172S probably benign Het
Cyp26a1 T C 19: 37,689,654 (GRCm39) I450T probably benign Het
Emc2 A G 15: 43,375,202 (GRCm39) Y233C probably benign Het
Esyt2 C A 12: 116,327,079 (GRCm39) T549K probably benign Het
Garin5a T C 7: 44,149,704 (GRCm39) F142L probably damaging Het
Gatm T C 2: 122,426,018 (GRCm39) D411G probably damaging Het
Gpr65 T C 12: 98,241,415 (GRCm39) Y23H probably damaging Het
Itpr1 A G 6: 108,415,321 (GRCm39) R1752G probably benign Het
Krtap4-1 GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC 11: 99,518,660 (GRCm39) probably benign Het
Map3k19 A C 1: 127,751,492 (GRCm39) S620A probably damaging Het
Mcm9 A G 10: 53,487,439 (GRCm39) *543Q probably null Het
Mfsd2a A T 4: 122,845,660 (GRCm39) C164S probably benign Het
Mta1 C A 12: 113,095,298 (GRCm39) R484S probably damaging Het
Nlrp9a T G 7: 26,256,678 (GRCm39) F99V probably benign Het
Notch2 G A 3: 98,031,537 (GRCm39) C1137Y probably damaging Het
Or51a6 A T 7: 102,604,448 (GRCm39) M120K probably damaging Het
Pcnx1 A G 12: 81,964,780 (GRCm39) T316A probably benign Het
Peds1 A C 2: 167,486,879 (GRCm39) Y167D probably benign Het
Phf11a A G 14: 59,515,018 (GRCm39) V221A probably benign Het
Pigb A G 9: 72,929,602 (GRCm39) L327P possibly damaging Het
Rab3c A T 13: 110,317,554 (GRCm39) Y110* probably null Het
Sdk2 G A 11: 113,742,539 (GRCm39) T790M probably damaging Het
Skic3 A G 13: 76,261,222 (GRCm39) K131R probably benign Het
Slc22a2 C T 17: 12,824,917 (GRCm39) P260S probably damaging Het
Sppl2a T C 2: 126,755,201 (GRCm39) probably null Het
Tnn T A 1: 159,934,630 (GRCm39) Q1261L probably damaging Het
Treml4 C A 17: 48,571,745 (GRCm39) Y49* probably null Het
Ubr3 T C 2: 69,851,523 (GRCm39) I1827T probably damaging Het
Vrtn C T 12: 84,696,809 (GRCm39) R520C probably damaging Het
Wipf1 G A 2: 73,267,879 (GRCm39) P173L possibly damaging Het
Wls C A 3: 159,578,761 (GRCm39) Q108K probably damaging Het
Zfp39 A T 11: 58,782,228 (GRCm39) V178D probably damaging Het
Zfp777 C A 6: 48,021,559 (GRCm39) R21L 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
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
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'- TTCTCTGAGCATGAGTCGTC -3'
(R):5'- TCAATGAAGTGGTCCAGCCG -3'

Sequencing Primer
(F):5'- CTCTGAGCATGAGTCGTCATTGTC -3'
(R):5'- TCATTGAGCACAGCAAGG -3'
Posted On 2020-06-30