Incidental Mutation 'R6652:Zfp317'
ID528096
Institutional Source Beutler Lab
Gene Symbol Zfp317
Ensembl Gene ENSMUSG00000057551
Gene Namezinc finger protein 317
SynonymsZfp67, KRAB9, Zfp75, D230022C05Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.230) question?
Stock #R6652 (G1)
Quality Score225.009
Status Not validated
Chromosome9
Chromosomal Location19622102-19649731 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 19647039 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 183 (T183I)
Ref Sequence ENSEMBL: ENSMUSP00000151161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079042] [ENSMUST00000208694] [ENSMUST00000213725] [ENSMUST00000215372]
Predicted Effect possibly damaging
Transcript: ENSMUST00000079042
AA Change: T272I

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000078051
Gene: ENSMUSG00000057551
AA Change: T272I

DomainStartEndE-ValueType
KRAB 60 120 4.58e-32 SMART
ZnF_C2H2 223 245 1.79e-2 SMART
ZnF_C2H2 251 273 6.88e-4 SMART
ZnF_C2H2 279 301 2.24e-3 SMART
ZnF_C2H2 307 329 1.1e-2 SMART
ZnF_C2H2 335 357 7.37e-4 SMART
ZnF_C2H2 363 385 8.47e-4 SMART
ZnF_C2H2 391 413 1.3e-4 SMART
ZnF_C2H2 419 441 3.63e-3 SMART
ZnF_C2H2 447 469 3.34e-2 SMART
ZnF_C2H2 475 497 4.47e-3 SMART
ZnF_C2H2 503 525 9.73e-4 SMART
ZnF_C2H2 531 553 5.9e-3 SMART
ZnF_C2H2 559 581 1.72e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000208694
AA Change: T272I

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000213725
AA Change: T183I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215372
AA Change: T272I

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 120,246,941 D605G probably damaging Het
Cfh A T 1: 140,144,068 I294N probably benign Het
Clk3 A G 9: 57,761,795 S49P probably damaging Het
Cmya5 A G 13: 93,092,895 V1895A probably benign Het
Cmya5 T C 13: 93,093,039 D1847G probably damaging Het
Cwf19l1 T C 19: 44,114,699 D359G probably benign Het
Dag1 A T 9: 108,209,090 M284K probably damaging Het
Ergic2 T C 6: 148,189,581 Y211C probably damaging Het
Espnl A C 1: 91,344,699 I594L probably benign Het
Fam193b A G 13: 55,542,790 S226P probably damaging Het
Fat2 T A 11: 55,252,262 I4254L probably benign Het
Fhdc1 T C 3: 84,464,324 Y108C probably damaging Het
Fut9 G C 4: 25,620,619 T65S probably benign Het
Gm9507 A T 10: 77,811,659 probably benign Het
Gpt2 G A 8: 85,518,052 E325K probably benign Het
Grap2 A T 15: 80,648,522 N297Y probably damaging Het
Igfn1 A G 1: 135,963,871 F2302S probably damaging Het
Ighv1-81 T A 12: 115,920,431 I67F probably damaging Het
Kidins220 T A 12: 25,010,060 probably null Het
Kti12 T A 4: 108,848,533 S215T probably benign Het
Mc1r G A 8: 123,407,631 G41D probably damaging Het
Mov10l1 A G 15: 88,993,902 Y129C probably damaging Het
Mthfsd A T 8: 121,098,821 L337Q probably damaging Het
Musk C T 4: 58,368,977 A629V probably damaging Het
Nadsyn1 A T 7: 143,811,218 M250K probably benign Het
Ncapd2 G A 6: 125,186,270 H92Y probably benign Het
Olfr1507 C T 14: 52,490,793 R57Q probably benign Het
Olfr220 G A 1: 174,449,061 C146Y probably damaging Het
Plec A T 15: 76,179,774 V2100E probably damaging Het
Prss37 C A 6: 40,519,156 probably benign Het
Sebox A T 11: 78,503,805 E32V probably damaging Het
Senp7 C A 16: 56,123,894 Q194K probably benign Het
Sfxn3 G A 19: 45,049,915 probably null Het
Spg20 G A 3: 55,124,827 E361K probably benign Het
Stn1 T C 19: 47,507,578 T334A probably benign Het
Stoml1 A G 9: 58,256,734 D112G probably damaging Het
Thap2 T A 10: 115,376,536 D28V probably damaging Het
Ubap2 A T 4: 41,196,743 N872K possibly damaging Het
Vezt A G 10: 93,970,279 F757L probably damaging Het
Vmn1r204 T C 13: 22,556,403 I68T probably damaging Het
Wnt10a A G 1: 74,803,454 probably null Het
Yipf7 A G 5: 69,541,161 M1T probably null Het
Zdhhc19 T C 16: 32,497,229 F48S probably damaging Het
Other mutations in Zfp317
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02425:Zfp317 APN 9 19643613 nonsense probably null
R1520:Zfp317 UTSW 9 19647848 missense possibly damaging 0.95
R1646:Zfp317 UTSW 9 19647312 missense probably damaging 1.00
R1860:Zfp317 UTSW 9 19641984 missense possibly damaging 0.85
R2029:Zfp317 UTSW 9 19645236 missense probably benign 0.13
R2364:Zfp317 UTSW 9 19647735 missense probably benign 0.01
R4006:Zfp317 UTSW 9 19648037 missense possibly damaging 0.82
R4031:Zfp317 UTSW 9 19646712 missense possibly damaging 0.53
R4293:Zfp317 UTSW 9 19646694 splice site probably null
R4897:Zfp317 UTSW 9 19646847 missense probably benign 0.28
R5593:Zfp317 UTSW 9 19647288 missense probably damaging 1.00
R6077:Zfp317 UTSW 9 19646888 missense probably benign 0.00
R6573:Zfp317 UTSW 9 19645254 missense probably damaging 0.99
R6750:Zfp317 UTSW 9 19647804 missense probably damaging 1.00
R6875:Zfp317 UTSW 9 19643665 missense probably damaging 0.98
Predicted Primers
Posted On2018-07-24