Incidental Mutation 'R7083:Zfp52'
ID 549708
Institutional Source Beutler Lab
Gene Symbol Zfp52
Ensembl Gene ENSMUSG00000051341
Gene Name zinc finger protein 52
Synonyms Zfp-52, KRAB11, Zfp76, zfec29
MMRRC Submission 045177-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.128) question?
Stock # R7083 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 21755801-21782863 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21780392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 80 (M80K)
Ref Sequence ENSEMBL: ENSMUSP00000078233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079242]
AlphaFold Q8BJ45
Predicted Effect possibly damaging
Transcript: ENSMUST00000079242
AA Change: M80K

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000078233
Gene: ENSMUSG00000051341
AA Change: M80K

DomainStartEndE-ValueType
KRAB 13 73 3.79e-24 SMART
ZnF_C2H2 186 208 1.79e-2 SMART
ZnF_C2H2 214 236 5.07e0 SMART
ZnF_C2H2 242 264 2.29e1 SMART
ZnF_C2H2 270 292 2.36e-2 SMART
ZnF_C2H2 298 320 4.72e-2 SMART
ZnF_C2H2 326 348 1.77e1 SMART
ZnF_C2H2 382 404 1.12e-3 SMART
ZnF_C2H2 410 432 1.34e2 SMART
ZnF_C2H2 438 460 1.06e-4 SMART
ZnF_C2H2 466 488 6.99e-5 SMART
ZnF_C2H2 494 516 4.17e-3 SMART
ZnF_C2H2 522 544 5.5e-3 SMART
ZnF_C2H2 550 572 8.47e-4 SMART
ZnF_C2H2 578 600 1.01e-1 SMART
ZnF_C2H2 606 628 9.73e-4 SMART
ZnF_C2H2 634 656 4.17e-3 SMART
ZnF_C2H2 662 684 6.32e-3 SMART
ZnF_C2H2 690 712 1.69e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 A T 12: 81,607,015 (GRCm39) M249K possibly damaging Het
Arhgef38 T A 3: 132,838,197 (GRCm39) Q613L unknown Het
Arpp21 A G 9: 112,012,612 (GRCm39) V70A probably benign Het
AW551984 T C 9: 39,508,943 (GRCm39) N327S probably damaging Het
Bnc1 T C 7: 81,623,058 (GRCm39) K723R probably damaging Het
Btbd7 A G 12: 102,754,594 (GRCm39) L724P probably damaging Het
Btnl10 G T 11: 58,809,963 (GRCm39) V35F probably damaging Het
Cd22 T A 7: 30,567,473 (GRCm39) T704S probably damaging Het
Cd4 T G 6: 124,847,535 (GRCm39) S210R probably benign Het
Cped1 A G 6: 22,123,579 (GRCm39) Q444R probably benign Het
Dusp26 A G 8: 31,581,747 (GRCm39) probably benign Het
Dync1i1 C T 6: 5,969,429 (GRCm39) A418V probably damaging Het
Fibp A G 19: 5,513,659 (GRCm39) D232G probably damaging Het
Frem2 T A 3: 53,444,914 (GRCm39) T2406S probably damaging Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gpr39 T A 1: 125,605,155 (GRCm39) W28R probably damaging Het
Greb1 A G 12: 16,773,315 (GRCm39) V253A probably benign Het
Hexim1 T G 11: 103,007,992 (GRCm39) L82W possibly damaging Het
Hmga1 G T 17: 27,779,945 (GRCm39) R49L possibly damaging Het
Irag2 A T 6: 145,115,509 (GRCm39) N349I probably damaging Het
Itch A T 2: 155,052,364 (GRCm39) N655Y probably damaging Het
Izumo2 A G 7: 44,359,757 (GRCm39) E129G probably damaging Het
Klk1b24 G A 7: 43,841,225 (GRCm39) C186Y probably damaging Het
Lnx1 G A 5: 74,788,846 (GRCm39) S31F possibly damaging Het
Lrrc37a T C 11: 103,394,166 (GRCm39) I420V probably benign Het
Ltk A C 2: 119,582,555 (GRCm39) C776G probably damaging Het
Mast4 A C 13: 102,874,223 (GRCm39) L1715R probably damaging Het
Med28 T C 5: 45,680,878 (GRCm39) probably null Het
Naf1 GCCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA GCCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA 8: 67,313,138 (GRCm39) probably benign Het
Nckap1l C A 15: 103,390,551 (GRCm39) T774K probably damaging Het
Nfkbiz T C 16: 55,638,663 (GRCm39) K266E possibly damaging Het
Ntrk3 T A 7: 77,900,587 (GRCm39) D584V probably damaging Het
Or1o1 T C 17: 37,717,063 (GRCm39) V208A probably benign Het
Or2h15 T A 17: 38,441,601 (GRCm39) T161S probably benign Het
Or4c126 A G 2: 89,824,201 (GRCm39) I155V probably benign Het
Or4n4b G A 14: 50,536,736 (GRCm39) T10I possibly damaging Het
Or5h25 T C 16: 58,930,400 (GRCm39) D191G probably damaging Het
Picalm T A 7: 89,825,976 (GRCm39) I376K probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Prps1l3 A T 12: 57,286,034 (GRCm39) I275L probably benign Het
Psg26 G A 7: 18,213,934 (GRCm39) R243* probably null Het
Ranbp2 A G 10: 58,315,052 (GRCm39) H1924R probably damaging Het
Rasef T C 4: 73,709,221 (GRCm39) D4G probably benign Het
Rttn T C 18: 89,108,722 (GRCm39) L1642P probably damaging Het
Shroom3 T C 5: 93,112,384 (GRCm39) L1915P probably damaging Het
Slc26a10 A G 10: 127,013,037 (GRCm39) V319A probably damaging Het
Slc4a10 A G 2: 62,064,839 (GRCm39) N231S probably benign Het
Sox18 T C 2: 181,312,165 (GRCm39) Q322R possibly damaging Het
Sting1 T C 18: 35,867,703 (GRCm39) H331R probably damaging Het
Syde1 G T 10: 78,422,903 (GRCm39) P490T probably benign Het
Syne2 A G 12: 75,990,662 (GRCm39) I1881M probably damaging Het
Taf1c T C 8: 120,327,407 (GRCm39) D387G probably damaging Het
Tenm4 T A 7: 96,544,556 (GRCm39) Y2228N probably damaging Het
Tubgcp5 C T 7: 55,450,443 (GRCm39) Q185* probably null Het
Vmn2r44 T A 7: 8,381,369 (GRCm39) I175F probably benign Het
Zdhhc7 C A 8: 120,812,166 (GRCm39) C152F probably damaging Het
Zfp612 T C 8: 110,815,768 (GRCm39) I325T probably damaging Het
Zmiz1 T G 14: 25,652,372 (GRCm39) F597V probably damaging Het
Other mutations in Zfp52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01752:Zfp52 APN 17 21,780,412 (GRCm39) missense probably benign 0.12
PIT4449001:Zfp52 UTSW 17 21,777,478 (GRCm39) missense probably damaging 1.00
R0270:Zfp52 UTSW 17 21,781,564 (GRCm39) missense probably damaging 1.00
R0674:Zfp52 UTSW 17 21,782,108 (GRCm39) missense probably damaging 1.00
R1224:Zfp52 UTSW 17 21,775,324 (GRCm39) missense possibly damaging 0.70
R1248:Zfp52 UTSW 17 21,780,311 (GRCm39) missense probably damaging 1.00
R1622:Zfp52 UTSW 17 21,781,833 (GRCm39) missense probably benign 0.00
R1663:Zfp52 UTSW 17 21,782,084 (GRCm39) missense possibly damaging 0.59
R1917:Zfp52 UTSW 17 21,780,426 (GRCm39) missense probably benign
R4272:Zfp52 UTSW 17 21,780,459 (GRCm39) nonsense probably null
R4273:Zfp52 UTSW 17 21,780,459 (GRCm39) nonsense probably null
R4278:Zfp52 UTSW 17 21,782,132 (GRCm39) missense probably benign
R4683:Zfp52 UTSW 17 21,781,769 (GRCm39) missense probably benign 0.31
R4865:Zfp52 UTSW 17 21,781,505 (GRCm39) missense probably damaging 1.00
R4964:Zfp52 UTSW 17 21,780,665 (GRCm39) missense probably benign 0.04
R4966:Zfp52 UTSW 17 21,780,665 (GRCm39) missense probably benign 0.04
R5430:Zfp52 UTSW 17 21,775,329 (GRCm39) missense probably benign 0.01
R5685:Zfp52 UTSW 17 21,782,013 (GRCm39) missense probably benign 0.15
R6133:Zfp52 UTSW 17 21,780,733 (GRCm39) missense probably damaging 1.00
R6882:Zfp52 UTSW 17 21,775,309 (GRCm39) start codon destroyed probably null 1.00
R7439:Zfp52 UTSW 17 21,781,132 (GRCm39) nonsense probably null
R7456:Zfp52 UTSW 17 21,781,615 (GRCm39) missense probably damaging 1.00
R7740:Zfp52 UTSW 17 21,781,252 (GRCm39) missense probably damaging 1.00
R8196:Zfp52 UTSW 17 21,782,156 (GRCm39) missense possibly damaging 0.45
R8930:Zfp52 UTSW 17 21,780,692 (GRCm39) missense possibly damaging 0.48
R8932:Zfp52 UTSW 17 21,780,692 (GRCm39) missense possibly damaging 0.48
R9033:Zfp52 UTSW 17 21,780,655 (GRCm39) missense possibly damaging 0.67
R9510:Zfp52 UTSW 17 21,782,218 (GRCm39) missense possibly damaging 0.49
R9645:Zfp52 UTSW 17 21,781,937 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- TAGTGAGTGAGTTCCATTCCAAAG -3'
(R):5'- CCGAATGTTGGAACACAAATTG -3'

Sequencing Primer
(F):5'- GTGAGTTCCATTCCAAAGCTAATTTC -3'
(R):5'- GGAACACAAATTGAAAGATTTCTCAC -3'
Posted On 2019-05-15