Incidental Mutation 'R5944:Zfp647'
ID 460498
Institutional Source Beutler Lab
Gene Symbol Zfp647
Ensembl Gene ENSMUSG00000054967
Gene Name zinc finger protein 647
Synonyms
MMRRC Submission 044136-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R5944 (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: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 86% (51/59)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb G T 5: 114,384,041 (GRCm39) R2190L probably damaging Het
Ankrd17 C T 5: 90,433,702 (GRCm39) R689H probably damaging Het
Apol7b A T 15: 77,307,967 (GRCm39) V176E probably damaging Het
Arsg T C 11: 109,426,137 (GRCm39) F319S probably damaging Het
Bcar3 T A 3: 122,316,932 (GRCm39) D634E probably benign Het
Bend7 T C 2: 4,749,167 (GRCm39) W95R probably damaging Het
Cenpj A G 14: 56,791,115 (GRCm39) probably null Het
Cfap91 G T 16: 38,148,672 (GRCm39) T252N probably damaging Het
Clasrp A T 7: 19,328,431 (GRCm39) Y116N probably damaging Het
Cldn17 T C 16: 88,303,597 (GRCm39) E44G probably damaging Het
Cyfip1 G A 7: 55,521,878 (GRCm39) E61K probably damaging Het
Dcaf13 A C 15: 39,010,072 (GRCm39) M419L probably benign Het
Eml4 A G 17: 83,753,472 (GRCm39) D269G possibly damaging Het
Fap T C 2: 62,372,605 (GRCm39) Y258C probably damaging Het
Fdxr T A 11: 115,160,672 (GRCm39) T288S probably benign Het
Frs3 T C 17: 48,003,233 (GRCm39) probably benign Het
Gm5581 T A 6: 131,145,363 (GRCm39) noncoding transcript Het
Gm7964 A G 7: 83,405,743 (GRCm39) D187G probably benign Het
Gpc5 T C 14: 115,607,250 (GRCm39) V284A probably benign Het
Hspa9 T C 18: 35,082,076 (GRCm39) T177A possibly damaging Het
Ifi202b T A 1: 173,791,365 (GRCm39) M438L probably benign Het
Ighv1-3 T C 12: 114,445,239 (GRCm39) probably benign Het
Krt36 G T 11: 99,996,139 (GRCm39) A95E probably benign Het
Krt9 C T 11: 100,079,265 (GRCm39) S709N unknown Het
Lmntd1 A T 6: 145,373,042 (GRCm39) S164T probably damaging Het
Or14c41 T A 7: 86,234,486 (GRCm39) M1K probably null Het
Or2ag1b A T 7: 106,288,853 (GRCm39) C28* probably null Het
Or52n4b G A 7: 108,144,484 (GRCm39) A249T possibly damaging Het
Or5b94 C T 19: 12,652,283 (GRCm39) T238I probably damaging Het
Or7a41 A T 10: 78,871,223 (GRCm39) M198L probably benign Het
Papola T A 12: 105,778,644 (GRCm39) F341I possibly damaging Het
Phf3 A G 1: 30,859,785 (GRCm39) L914P probably damaging Het
Sec24d T C 3: 123,087,230 (GRCm39) V132A probably benign Het
Serpini1 G A 3: 75,547,606 (GRCm39) D373N probably damaging Het
Sigirr T C 7: 140,671,300 (GRCm39) Y394C probably damaging Het
Slc29a4 G A 5: 142,704,573 (GRCm39) E372K probably damaging Het
Slc7a4 C T 16: 17,392,220 (GRCm39) V405I possibly damaging Het
Spatc1 T C 15: 76,168,138 (GRCm39) L199P probably damaging Het
Srgap3 T C 6: 112,772,775 (GRCm39) M149V possibly damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Stat3 C T 11: 100,785,931 (GRCm39) A449T probably damaging Het
Stat4 A G 1: 52,113,898 (GRCm39) N203D probably damaging Het
Tanc1 T C 2: 59,667,564 (GRCm39) probably null Het
Trav3-1 T C 14: 52,818,449 (GRCm39) I41T probably benign Het
Usp34 T A 11: 23,313,089 (GRCm39) D525E probably damaging Het
Vars1 T C 17: 35,232,620 (GRCm39) V848A probably damaging Het
Vmn2r101 A T 17: 19,809,769 (GRCm39) D185V probably benign Het
Wiz A G 17: 32,576,671 (GRCm39) S628P 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
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
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'- GCACTTTCCACACTCAATGC -3'
(R):5'- TCTCACATGGGAGACTGTGAAG -3'

Sequencing Primer
(F):5'- CAGATATAGGGTCTCTCAACACTGG -3'
(R):5'- TTAAAGCAGCCCTTGTAGGTAGCC -3'
Posted On 2017-02-28