Incidental Mutation 'R6652:Zfp317'
ID 528096
Institutional Source Beutler Lab
Gene Symbol Zfp317
Ensembl Gene ENSMUSG00000057551
Gene Name zinc finger protein 317
Synonyms D230022C05Rik, KRAB9, Zfp67, Zfp75
MMRRC Submission 044773-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R6652 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 19533398-19561027 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 19558335 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8C0Q5
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: 119,846,164 (GRCm39) D605G probably damaging Het
Cfh A T 1: 140,071,806 (GRCm39) I294N probably benign Het
Clk3 A G 9: 57,669,078 (GRCm39) S49P probably damaging Het
Cmya5 A G 13: 93,229,403 (GRCm39) V1895A probably benign Het
Cmya5 T C 13: 93,229,547 (GRCm39) D1847G probably damaging Het
Cwf19l1 T C 19: 44,103,138 (GRCm39) D359G probably benign Het
Dag1 A T 9: 108,086,289 (GRCm39) M284K probably damaging Het
Ergic2 T C 6: 148,091,079 (GRCm39) Y211C probably damaging Het
Espnl A C 1: 91,272,421 (GRCm39) I594L probably benign Het
Fam193b A G 13: 55,690,603 (GRCm39) S226P probably damaging Het
Fat2 T A 11: 55,143,088 (GRCm39) I4254L probably benign Het
Fhdc1 T C 3: 84,371,631 (GRCm39) Y108C probably damaging Het
Fut9 G C 4: 25,620,619 (GRCm39) T65S probably benign Het
Gm9507 A T 10: 77,647,493 (GRCm39) probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Grap2 A T 15: 80,532,723 (GRCm39) N297Y probably damaging Het
Igfn1 A G 1: 135,891,609 (GRCm39) F2302S probably damaging Het
Ighv1-81 T A 12: 115,884,051 (GRCm39) I67F probably damaging Het
Kidins220 T A 12: 25,060,059 (GRCm39) probably null Het
Kti12 T A 4: 108,705,730 (GRCm39) S215T probably benign Het
Mc1r G A 8: 124,134,370 (GRCm39) G41D probably damaging Het
Mov10l1 A G 15: 88,878,105 (GRCm39) Y129C probably damaging Het
Mthfsd A T 8: 121,825,560 (GRCm39) L337Q probably damaging Het
Musk C T 4: 58,368,977 (GRCm39) A629V probably damaging Het
Nadsyn1 A T 7: 143,364,955 (GRCm39) M250K probably benign Het
Ncapd2 G A 6: 125,163,233 (GRCm39) H92Y probably benign Het
Or4e5 C T 14: 52,728,250 (GRCm39) R57Q probably benign Het
Or6y1 G A 1: 174,276,627 (GRCm39) C146Y probably damaging Het
Plec A T 15: 76,063,974 (GRCm39) V2100E probably damaging Het
Prss37 C A 6: 40,496,090 (GRCm39) probably benign Het
Sebox A T 11: 78,394,631 (GRCm39) E32V probably damaging Het
Senp7 C A 16: 55,944,257 (GRCm39) Q194K probably benign Het
Sfxn3 G A 19: 45,038,354 (GRCm39) probably null Het
Spart G A 3: 55,032,248 (GRCm39) E361K probably benign Het
Stn1 T C 19: 47,496,017 (GRCm39) T334A probably benign Het
Stoml1 A G 9: 58,164,017 (GRCm39) D112G probably damaging Het
Thap2 T A 10: 115,212,441 (GRCm39) D28V probably damaging Het
Ubap2 A T 4: 41,196,743 (GRCm39) N872K possibly damaging Het
Vezt A G 10: 93,806,141 (GRCm39) F757L probably damaging Het
Vmn1r204 T C 13: 22,740,573 (GRCm39) I68T probably damaging Het
Wnt10a A G 1: 74,842,613 (GRCm39) probably null Het
Yipf7 A G 5: 69,698,504 (GRCm39) M1T probably null Het
Zdhhc19 T C 16: 32,316,047 (GRCm39) F48S probably damaging Het
Other mutations in Zfp317
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02425:Zfp317 APN 9 19,554,909 (GRCm39) nonsense probably null
R1520:Zfp317 UTSW 9 19,559,144 (GRCm39) missense possibly damaging 0.95
R1646:Zfp317 UTSW 9 19,558,608 (GRCm39) missense probably damaging 1.00
R1860:Zfp317 UTSW 9 19,553,280 (GRCm39) missense possibly damaging 0.85
R2029:Zfp317 UTSW 9 19,556,532 (GRCm39) missense probably benign 0.13
R2364:Zfp317 UTSW 9 19,559,031 (GRCm39) missense probably benign 0.01
R4006:Zfp317 UTSW 9 19,559,333 (GRCm39) missense possibly damaging 0.82
R4031:Zfp317 UTSW 9 19,558,008 (GRCm39) missense possibly damaging 0.53
R4293:Zfp317 UTSW 9 19,557,990 (GRCm39) splice site probably null
R4897:Zfp317 UTSW 9 19,558,143 (GRCm39) missense probably benign 0.28
R5593:Zfp317 UTSW 9 19,558,584 (GRCm39) missense probably damaging 1.00
R6077:Zfp317 UTSW 9 19,558,184 (GRCm39) missense probably benign 0.00
R6573:Zfp317 UTSW 9 19,556,550 (GRCm39) missense probably damaging 0.99
R6750:Zfp317 UTSW 9 19,559,100 (GRCm39) missense probably damaging 1.00
R6875:Zfp317 UTSW 9 19,554,961 (GRCm39) missense probably damaging 0.98
R7688:Zfp317 UTSW 9 19,559,251 (GRCm39) missense probably damaging 1.00
R8054:Zfp317 UTSW 9 19,553,265 (GRCm39) missense probably benign 0.00
R8900:Zfp317 UTSW 9 19,558,708 (GRCm39) nonsense probably null
R8927:Zfp317 UTSW 9 19,552,521 (GRCm39) start codon destroyed probably null
R8928:Zfp317 UTSW 9 19,552,521 (GRCm39) start codon destroyed probably null
R9052:Zfp317 UTSW 9 19,556,568 (GRCm39) missense probably benign 0.03
R9176:Zfp317 UTSW 9 19,559,163 (GRCm39) missense probably damaging 1.00
R9210:Zfp317 UTSW 9 19,558,442 (GRCm39) nonsense probably null
R9212:Zfp317 UTSW 9 19,558,442 (GRCm39) nonsense probably null
Z1177:Zfp317 UTSW 9 19,558,326 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2018-07-24