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: 0.078) question?
Stock # R6101 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 76910371-76925448 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 76912085 bp (GRCm38)
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: 24,970,759 (GRCm38) C570S probably damaging Het
Adh6b T A 3: 138,357,710 (GRCm38) I350K possibly damaging Het
Ahnak G A 19: 9,004,099 (GRCm38) V916I probably benign Het
Aldh4a1 C T 4: 139,638,495 (GRCm38) P266S possibly damaging Het
Arhgap11a G A 2: 113,834,874 (GRCm38) R460* probably null Het
Chl1 A T 6: 103,693,032 (GRCm38) D477V probably damaging Het
Clstn3 A T 6: 124,461,670 (GRCm38) L45Q probably damaging Het
Cnot7 C T 8: 40,510,037 (GRCm38) R32Q probably benign Het
Csrnp1 T C 9: 119,973,485 (GRCm38) D220G probably damaging Het
Cyb5a G A 18: 84,871,593 (GRCm38) R49Q possibly damaging Het
Fblim1 G A 4: 141,584,722 (GRCm38) R231C probably damaging Het
Glul T A 1: 153,906,431 (GRCm38) Y137* probably null Het
Gm10549 C A 18: 33,464,305 (GRCm38) probably benign Het
Igha T A 12: 113,256,397 (GRCm38) probably benign Het
Kif2b A G 11: 91,575,988 (GRCm38) S490P probably benign Het
Kxd1 A T 8: 70,519,939 (GRCm38) N33K probably benign Het
Lrrk2 T C 15: 91,723,135 (GRCm38) I567T probably benign Het
Man2a2 T C 7: 80,367,001 (GRCm38) D355G probably damaging Het
Map6 T C 7: 99,268,107 (GRCm38) V29A probably damaging Het
Mical3 A T 6: 121,033,710 (GRCm38) V437D probably damaging Het
Mief1 T C 15: 80,249,740 (GRCm38) Y333H probably benign Het
Olfr1303 A G 2: 111,814,253 (GRCm38) F158L probably benign Het
Olfr533 T A 7: 140,466,519 (GRCm38) V106D probably benign Het
Olfr917 A G 9: 38,665,620 (GRCm38) S75P probably damaging Het
Olfr926 T C 9: 38,877,308 (GRCm38) L44P possibly damaging Het
Pak1ip1 T A 13: 41,004,885 (GRCm38) L78Q probably damaging Het
Pikfyve A G 1: 65,264,345 (GRCm38) probably null Het
Pinlyp C T 7: 24,545,980 (GRCm38) R5K possibly damaging Het
Pkd1l3 A G 8: 109,640,846 (GRCm38) D1225G probably damaging Het
Pnmal2 T A 7: 16,946,568 (GRCm38) S492R probably benign Het
Postn A G 3: 54,372,220 (GRCm38) probably null Het
Ptprq A G 10: 107,580,266 (GRCm38) Y1724H possibly damaging Het
Rpn2 T A 2: 157,310,188 (GRCm38) probably null Het
Scn5a A G 9: 119,522,650 (GRCm38) V755A probably damaging Het
Slc22a30 T C 19: 8,337,868 (GRCm38) probably null Het
Specc1l T C 10: 75,248,632 (GRCm38) S730P probably damaging Het
Steap2 T A 5: 5,675,891 (GRCm38) I378F possibly damaging Het
Tdrd12 A T 7: 35,481,133 (GRCm38) Y818* probably null Het
Thbs4 G T 13: 92,775,485 (GRCm38) Q246K possibly damaging Het
Tnfsf10 A G 3: 27,335,549 (GRCm38) Y253C probably damaging Het
Tnpo3 G T 6: 29,588,043 (GRCm38) C125* probably null Het
Trim58 A G 11: 58,651,615 (GRCm38) N467S probably benign Het
Trpm6 C T 19: 18,853,748 (GRCm38) R1326* probably null Het
Zc3hav1l A G 6: 38,293,077 (GRCm38) V279A probably benign Het
Zfp618 A T 4: 63,133,241 (GRCm38) Q753L probably benign Het
Zkscan17 A T 11: 59,503,575 (GRCm38) C67S probably damaging Het
Other mutations in Zfp647
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01565:Zfp647 APN 15 76,911,670 (GRCm38) nonsense probably null
IGL01680:Zfp647 APN 15 76,917,768 (GRCm38) splice site probably benign
IGL02647:Zfp647 APN 15 76,917,715 (GRCm38) missense probably damaging 1.00
IGL03213:Zfp647 APN 15 76,911,977 (GRCm38) missense possibly damaging 0.46
IGL03401:Zfp647 APN 15 76,911,368 (GRCm38) missense probably damaging 1.00
R0418:Zfp647 UTSW 15 76,911,386 (GRCm38) missense probably damaging 1.00
R1479:Zfp647 UTSW 15 76,911,203 (GRCm38) missense possibly damaging 0.94
R1913:Zfp647 UTSW 15 76,911,951 (GRCm38) missense probably benign 0.02
R1959:Zfp647 UTSW 15 76,911,114 (GRCm38) missense possibly damaging 0.57
R2176:Zfp647 UTSW 15 76,911,660 (GRCm38) missense probably damaging 1.00
R3076:Zfp647 UTSW 15 76,918,009 (GRCm38) start codon destroyed probably null
R3077:Zfp647 UTSW 15 76,918,009 (GRCm38) start codon destroyed probably null
R3701:Zfp647 UTSW 15 76,910,910 (GRCm38) missense probably damaging 1.00
R3702:Zfp647 UTSW 15 76,910,910 (GRCm38) missense probably damaging 1.00
R3960:Zfp647 UTSW 15 76,910,976 (GRCm38) splice site probably null
R4938:Zfp647 UTSW 15 76,911,044 (GRCm38) frame shift probably null
R4939:Zfp647 UTSW 15 76,911,044 (GRCm38) frame shift probably null
R5196:Zfp647 UTSW 15 76,912,085 (GRCm38) missense probably damaging 0.96
R5197:Zfp647 UTSW 15 76,912,085 (GRCm38) missense probably damaging 0.96
R5345:Zfp647 UTSW 15 76,911,495 (GRCm38) missense possibly damaging 0.48
R5415:Zfp647 UTSW 15 76,911,393 (GRCm38) missense possibly damaging 0.79
R5791:Zfp647 UTSW 15 76,918,006 (GRCm38) missense unknown
R5942:Zfp647 UTSW 15 76,912,085 (GRCm38) missense probably damaging 0.96
R5944:Zfp647 UTSW 15 76,912,085 (GRCm38) missense probably damaging 0.96
R5945:Zfp647 UTSW 15 76,912,085 (GRCm38) missense probably damaging 0.96
R5946:Zfp647 UTSW 15 76,912,085 (GRCm38) missense probably damaging 0.96
R5947:Zfp647 UTSW 15 76,912,085 (GRCm38) missense probably damaging 0.96
R6005:Zfp647 UTSW 15 76,912,085 (GRCm38) missense probably damaging 0.96
R6007:Zfp647 UTSW 15 76,912,085 (GRCm38) missense probably damaging 0.96
R6073:Zfp647 UTSW 15 76,912,085 (GRCm38) missense probably damaging 0.96
R6074:Zfp647 UTSW 15 76,912,085 (GRCm38) missense probably damaging 0.96
R6102:Zfp647 UTSW 15 76,912,085 (GRCm38) missense probably damaging 0.96
R6103:Zfp647 UTSW 15 76,912,085 (GRCm38) missense probably damaging 0.96
R6126:Zfp647 UTSW 15 76,912,085 (GRCm38) missense probably damaging 0.96
R6127:Zfp647 UTSW 15 76,912,085 (GRCm38) missense probably damaging 0.96
R6129:Zfp647 UTSW 15 76,912,085 (GRCm38) missense probably damaging 0.96
R6136:Zfp647 UTSW 15 76,912,085 (GRCm38) missense probably damaging 0.96
R6151:Zfp647 UTSW 15 76,912,085 (GRCm38) missense probably damaging 0.96
R6305:Zfp647 UTSW 15 76,912,085 (GRCm38) missense probably damaging 0.96
R6306:Zfp647 UTSW 15 76,912,085 (GRCm38) missense probably damaging 0.96
R6329:Zfp647 UTSW 15 76,912,085 (GRCm38) missense probably damaging 0.96
R6721:Zfp647 UTSW 15 76,911,876 (GRCm38) missense probably benign 0.00
R7158:Zfp647 UTSW 15 76,917,305 (GRCm38) missense probably benign 0.01
R7239:Zfp647 UTSW 15 76,911,756 (GRCm38) missense probably damaging 1.00
R7611:Zfp647 UTSW 15 76,911,788 (GRCm38) missense probably damaging 1.00
R8066:Zfp647 UTSW 15 76,911,895 (GRCm38) missense probably damaging 0.98
R8170:Zfp647 UTSW 15 76,911,371 (GRCm38) missense possibly damaging 0.87
R8346:Zfp647 UTSW 15 76,911,728 (GRCm38) 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