Incidental Mutation 'R6101:Zfp647'
ID 485273
Institutional Source Beutler Lab
Gene Symbol Zfp647
Ensembl Gene ENSMUSG00000054967
Gene Name zinc finger protein 647
Synonyms
MMRRC Submission 044251-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R6101 (G1)
Quality Score 225.009
Status Not 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: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 A T 8: 25,460,775 (GRCm39) C570S probably damaging Het
Adh6b T A 3: 138,063,471 (GRCm39) I350K possibly damaging Het
Ahnak G A 19: 8,981,463 (GRCm39) V916I probably benign Het
Aldh4a1 C T 4: 139,365,806 (GRCm39) P266S possibly damaging Het
Arhgap11a G A 2: 113,665,219 (GRCm39) R460* probably null Het
Chl1 A T 6: 103,669,993 (GRCm39) D477V probably damaging Het
Clstn3 A T 6: 124,438,629 (GRCm39) L45Q probably damaging Het
Cnot7 C T 8: 40,963,078 (GRCm39) R32Q probably benign Het
Csrnp1 T C 9: 119,802,551 (GRCm39) D220G probably damaging Het
Cyb5a G A 18: 84,889,718 (GRCm39) R49Q possibly damaging Het
Fblim1 G A 4: 141,312,033 (GRCm39) R231C probably damaging Het
Glul T A 1: 153,782,177 (GRCm39) Y137* probably null Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Igha T A 12: 113,220,017 (GRCm39) probably benign Het
Kif2b A G 11: 91,466,814 (GRCm39) S490P probably benign Het
Kxd1 A T 8: 70,972,589 (GRCm39) N33K probably benign Het
Lrrk2 T C 15: 91,607,338 (GRCm39) I567T probably benign Het
Man2a2 T C 7: 80,016,749 (GRCm39) D355G probably damaging Het
Map6 T C 7: 98,917,314 (GRCm39) V29A probably damaging Het
Mical3 A T 6: 121,010,671 (GRCm39) V437D probably damaging Het
Mief1 T C 15: 80,133,941 (GRCm39) Y333H probably benign Het
Or12j4 T A 7: 140,046,432 (GRCm39) V106D probably benign Het
Or4f7 A G 2: 111,644,598 (GRCm39) F158L probably benign Het
Or8b52 A G 9: 38,576,916 (GRCm39) S75P probably damaging Het
Or8d2b T C 9: 38,788,604 (GRCm39) L44P possibly damaging Het
Pak1ip1 T A 13: 41,158,361 (GRCm39) L78Q probably damaging Het
Pikfyve A G 1: 65,303,504 (GRCm39) probably null Het
Pinlyp C T 7: 24,245,405 (GRCm39) R5K possibly damaging Het
Pkd1l3 A G 8: 110,367,478 (GRCm39) D1225G probably damaging Het
Pnma8b T A 7: 16,680,493 (GRCm39) S492R probably benign Het
Postn A G 3: 54,279,641 (GRCm39) probably null Het
Ptprq A G 10: 107,416,127 (GRCm39) Y1724H possibly damaging Het
Rpn2 T A 2: 157,152,108 (GRCm39) probably null Het
Scn5a A G 9: 119,351,716 (GRCm39) V755A probably damaging Het
Slc22a30 T C 19: 8,315,232 (GRCm39) probably null Het
Specc1l T C 10: 75,084,466 (GRCm39) S730P probably damaging Het
Steap2 T A 5: 5,725,891 (GRCm39) I378F possibly damaging Het
Tdrd12 A T 7: 35,180,558 (GRCm39) Y818* probably null Het
Thbs4 G T 13: 92,911,993 (GRCm39) Q246K possibly damaging Het
Tnfsf10 A G 3: 27,389,698 (GRCm39) Y253C probably damaging Het
Tnpo3 G T 6: 29,588,042 (GRCm39) C125* probably null Het
Trim58 A G 11: 58,542,441 (GRCm39) N467S probably benign Het
Trpm6 C T 19: 18,831,112 (GRCm39) R1326* probably null Het
Zc3hav1l A G 6: 38,270,012 (GRCm39) V279A probably benign Het
Zfp618 A T 4: 63,051,478 (GRCm39) Q753L probably benign Het
Zkscan17 A T 11: 59,394,401 (GRCm39) C67S probably damaging 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
R5197: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
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'- GCACTTTCCACACTCAATGC -3'
(R):5'- ACTGTGAAGCAAAGCCAGC -3'

Sequencing Primer
(F):5'- CAGATATAGGGTCTCTCAACACTGG -3'
(R):5'- TTAAAGCAGCCCTTGTAGGTAGCC -3'
Posted On 2017-08-16