Incidental Mutation 'R5197:Zfp647'
ID 400399
Institutional Source Beutler Lab
Gene Symbol Zfp647
Ensembl Gene ENSMUSG00000054967
Gene Name zinc finger protein 647
Synonyms
MMRRC Submission 042773-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R5197 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 76794571-76809648 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 76796285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 125 (P125L)
Ref Sequence ENSEMBL: ENSMUSP00000155272 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048854] [ENSMUST00000229055] [ENSMUST00000229865]
AlphaFold Q7TNU6
Predicted Effect probably benign
Transcript: ENSMUST00000048854
AA Change: P125L

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000041575
Gene: ENSMUSG00000054967
AA Change: P125L

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
KRAB 17 77 7.05e-33 SMART
ZnF_C2H2 174 196 3.39e-3 SMART
ZnF_C2H2 202 224 1.2e-3 SMART
ZnF_C2H2 230 252 2.95e-3 SMART
ZnF_C2H2 258 280 4.79e-3 SMART
ZnF_C2H2 286 308 1.84e-4 SMART
ZnF_C2H2 314 336 6.32e-3 SMART
ZnF_C2H2 342 364 7.37e-4 SMART
ZnF_C2H2 370 392 1.6e-4 SMART
ZnF_C2H2 398 420 2.2e-2 SMART
ZnF_C2H2 426 448 6.78e-3 SMART
ZnF_C2H2 454 476 4.87e-4 SMART
ZnF_C2H2 482 504 2.24e-3 SMART
ZnF_C2H2 510 532 9.08e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000229055
AA Change: P125L

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably damaging
Transcript: ENSMUST00000229865
AA Change: P125L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.1789 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 99% (67/68)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 T C 9: 54,529,866 (GRCm39) E247G possibly damaging Het
Adgra3 A G 5: 50,118,096 (GRCm39) F1151L probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Aldh4a1 A C 4: 139,375,612 (GRCm39) probably benign Het
Anln A T 9: 22,264,077 (GRCm39) probably null Het
Aste1 T C 9: 105,282,253 (GRCm39) S74P probably damaging Het
Atp6v0e2 G A 6: 48,517,051 (GRCm39) R77H probably benign Het
Brpf1 A G 6: 113,296,902 (GRCm39) D962G possibly damaging Het
Btbd2 T C 10: 80,482,253 (GRCm39) D249G probably damaging Het
Catsper3 T C 13: 55,955,989 (GRCm39) probably null Het
Cfap43 A G 19: 47,885,811 (GRCm39) L268P probably damaging Het
Cftr T C 6: 18,255,413 (GRCm39) V540A probably benign Het
Col22a1 C T 15: 71,881,255 (GRCm39) G32D probably damaging Het
Col5a2 G T 1: 45,432,241 (GRCm39) P804Q probably benign Het
Cyp2d41-ps A G 15: 82,662,981 (GRCm39) noncoding transcript Het
Cyp39a1 T G 17: 44,057,429 (GRCm39) L423V possibly damaging Het
Elmo1 T G 13: 20,748,607 (GRCm39) V484G probably benign Het
Eps8 C A 6: 137,467,288 (GRCm39) Q656H probably damaging Het
Eps8 T C 6: 137,467,289 (GRCm39) Q656R possibly damaging Het
Fshb T C 2: 106,887,854 (GRCm39) D55G possibly damaging Het
Garin1a G T 6: 29,281,221 (GRCm39) probably benign Het
H3c4 T A 13: 23,760,304 (GRCm39) L110Q probably damaging Het
Herc1 C A 9: 66,355,786 (GRCm39) Q2346K probably damaging Het
Htr3b T C 9: 48,856,815 (GRCm39) D221G probably benign Het
Ift74 T A 4: 94,550,833 (GRCm39) D328E probably benign Het
Kif21b A T 1: 136,072,363 (GRCm39) K23M probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lipc T A 9: 70,705,673 (GRCm39) E470V probably benign Het
Lrrc4 G T 6: 28,830,142 (GRCm39) T68K probably damaging Het
Lrrc63 T A 14: 75,322,322 (GRCm39) H594L possibly damaging Het
Mfsd14a A T 3: 116,442,150 (GRCm39) probably benign Het
Mob2 T C 7: 141,563,274 (GRCm39) probably null Het
Nckap5 T A 1: 126,150,410 (GRCm39) H105L possibly damaging Het
Ngef C A 1: 87,437,090 (GRCm39) G133* probably null Het
Or14j2 T G 17: 37,886,111 (GRCm39) I68L probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2t1 T A 14: 14,328,462 (GRCm38) M117K probably damaging Het
Or52s1 G A 7: 102,861,207 (GRCm39) V47I probably benign Het
Or5b120 G T 19: 13,479,748 (GRCm39) V14F possibly damaging Het
Or5g23 T C 2: 85,438,791 (GRCm39) I154M probably benign Het
Pard3 A G 8: 127,800,040 (GRCm39) probably null Het
Pgm2 C T 5: 64,263,175 (GRCm39) A274V possibly damaging Het
Ppp1r9a T A 6: 5,156,177 (GRCm39) S1144R probably damaging Het
Pramel23 A C 4: 143,424,632 (GRCm39) C270W possibly damaging Het
Prkcq C T 2: 11,304,227 (GRCm39) P590L probably damaging Het
Psmd13 T A 7: 140,474,374 (GRCm39) probably null Het
Rab3gap1 T A 1: 127,816,931 (GRCm39) D63E probably benign Het
Rag2 C A 2: 101,461,085 (GRCm39) T465K probably damaging Het
Rnase6 A G 14: 51,367,670 (GRCm39) M21V unknown Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr2 A T 13: 11,653,316 (GRCm39) probably null Het
Sash1 T G 10: 8,615,989 (GRCm39) R624S probably damaging Het
Slc1a2 A G 2: 102,586,460 (GRCm39) I355V probably benign Het
Srrm2 T C 17: 24,036,358 (GRCm39) S1097P probably benign Het
Sugct C T 13: 17,497,861 (GRCm39) A271T probably damaging Het
Tdrd7 T C 4: 46,034,350 (GRCm39) V1065A probably damaging Het
Tmprss6 T A 15: 78,338,389 (GRCm39) Y307F probably damaging Het
Tram1 T C 1: 13,642,126 (GRCm39) N216S probably benign Het
Ttk T C 9: 83,721,394 (GRCm39) V93A probably benign Het
Ubr4 A G 4: 139,195,408 (GRCm39) Y1210C probably damaging Het
Wdr7 A G 18: 63,871,937 (GRCm39) K364E probably benign Het
Xrcc2 G T 5: 25,897,656 (GRCm39) H98N probably benign Het
Zdhhc11 A G 13: 74,113,688 (GRCm39) I77V probably benign Het
Zfp54 C T 17: 21,654,442 (GRCm39) S312L probably benign Het
Other mutations in Zfp647
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01565:Zfp647 APN 15 76,795,870 (GRCm39) nonsense probably null
IGL01680:Zfp647 APN 15 76,801,968 (GRCm39) splice site probably benign
IGL02647:Zfp647 APN 15 76,801,915 (GRCm39) missense probably damaging 1.00
IGL03213:Zfp647 APN 15 76,796,177 (GRCm39) missense possibly damaging 0.46
IGL03401:Zfp647 APN 15 76,795,568 (GRCm39) missense probably damaging 1.00
R0418:Zfp647 UTSW 15 76,795,586 (GRCm39) missense probably damaging 1.00
R1479:Zfp647 UTSW 15 76,795,403 (GRCm39) missense possibly damaging 0.94
R1913:Zfp647 UTSW 15 76,796,151 (GRCm39) missense probably benign 0.02
R1959:Zfp647 UTSW 15 76,795,314 (GRCm39) missense possibly damaging 0.57
R2176:Zfp647 UTSW 15 76,795,860 (GRCm39) missense probably damaging 1.00
R3076:Zfp647 UTSW 15 76,802,209 (GRCm39) start codon destroyed probably null
R3077:Zfp647 UTSW 15 76,802,209 (GRCm39) start codon destroyed probably null
R3701:Zfp647 UTSW 15 76,795,110 (GRCm39) missense probably damaging 1.00
R3702:Zfp647 UTSW 15 76,795,110 (GRCm39) missense probably damaging 1.00
R3960:Zfp647 UTSW 15 76,795,176 (GRCm39) splice site probably null
R4938:Zfp647 UTSW 15 76,795,244 (GRCm39) frame shift probably null
R4939:Zfp647 UTSW 15 76,795,244 (GRCm39) frame shift probably null
R5196:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R5345:Zfp647 UTSW 15 76,795,695 (GRCm39) missense possibly damaging 0.48
R5415:Zfp647 UTSW 15 76,795,593 (GRCm39) missense possibly damaging 0.79
R5791:Zfp647 UTSW 15 76,802,206 (GRCm39) missense unknown
R5942:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R5944:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R5945:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R5946:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R5947:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6005:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6007:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6073:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6074:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6101:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6102:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6103:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6126:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6127:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6129:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6136:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6151:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6305:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6306:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6329:Zfp647 UTSW 15 76,796,285 (GRCm39) missense probably damaging 0.96
R6721:Zfp647 UTSW 15 76,796,076 (GRCm39) missense probably benign 0.00
R7158:Zfp647 UTSW 15 76,801,505 (GRCm39) missense probably benign 0.01
R7239:Zfp647 UTSW 15 76,795,956 (GRCm39) missense probably damaging 1.00
R7611:Zfp647 UTSW 15 76,795,988 (GRCm39) missense probably damaging 1.00
R8066:Zfp647 UTSW 15 76,796,095 (GRCm39) missense probably damaging 0.98
R8170:Zfp647 UTSW 15 76,795,571 (GRCm39) missense possibly damaging 0.87
R8346:Zfp647 UTSW 15 76,795,928 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCACTTTCCACACTCAATGCAG -3'
(R):5'- ACTGTGAAGCAAAGCCAGC -3'

Sequencing Primer
(F):5'- CAGATATAGGGTCTCTCAACACTGG -3'
(R):5'- TTAAAGCAGCCCTTGTAGGTAGCC -3'
Posted On 2016-07-06