Incidental Mutation 'R7387:Zdbf2'
ID 573140
Institutional Source Beutler Lab
Gene Symbol Zdbf2
Ensembl Gene ENSMUSG00000027520
Gene Name zinc finger, DBF-type containing 2
Synonyms 4930431J08Rik, 9330107J05Rik
MMRRC Submission 045469-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R7387 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 63312424-63353735 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 63343198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 526 (V526I)
Ref Sequence ENSEMBL: ENSMUSP00000029025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029025] [ENSMUST00000114132]
AlphaFold Q5SS00
Predicted Effect possibly damaging
Transcript: ENSMUST00000029025
AA Change: V526I

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029025
Gene: ENSMUSG00000027520
AA Change: V526I

DomainStartEndE-ValueType
low complexity region 79 99 N/A INTRINSIC
low complexity region 150 164 N/A INTRINSIC
low complexity region 378 405 N/A INTRINSIC
internal_repeat_6 407 565 7.68e-5 PROSPERO
internal_repeat_5 418 768 5.53e-5 PROSPERO
internal_repeat_1 618 873 3.17e-15 PROSPERO
internal_repeat_4 621 885 2.09e-6 PROSPERO
internal_repeat_3 642 886 1.52e-7 PROSPERO
internal_repeat_2 650 912 5.87e-11 PROSPERO
internal_repeat_6 722 891 7.68e-5 PROSPERO
low complexity region 965 982 N/A INTRINSIC
internal_repeat_4 1061 1328 2.09e-6 PROSPERO
internal_repeat_2 1215 1484 5.87e-11 PROSPERO
internal_repeat_3 1287 1507 1.52e-7 PROSPERO
internal_repeat_1 1307 1536 3.17e-15 PROSPERO
internal_repeat_5 1388 1758 5.53e-5 PROSPERO
low complexity region 1767 1778 N/A INTRINSIC
low complexity region 2211 2235 N/A INTRINSIC
low complexity region 2240 2399 N/A INTRINSIC
low complexity region 2402 2420 N/A INTRINSIC
low complexity region 2446 2458 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114132
AA Change: V526I

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109767
Gene: ENSMUSG00000027520
AA Change: V526I

DomainStartEndE-ValueType
low complexity region 79 99 N/A INTRINSIC
low complexity region 150 164 N/A INTRINSIC
low complexity region 378 405 N/A INTRINSIC
internal_repeat_6 407 565 7.68e-5 PROSPERO
internal_repeat_5 418 768 5.53e-5 PROSPERO
internal_repeat_1 618 873 3.17e-15 PROSPERO
internal_repeat_4 621 885 2.09e-6 PROSPERO
internal_repeat_3 642 886 1.52e-7 PROSPERO
internal_repeat_2 650 912 5.87e-11 PROSPERO
internal_repeat_6 722 891 7.68e-5 PROSPERO
low complexity region 965 982 N/A INTRINSIC
internal_repeat_4 1061 1328 2.09e-6 PROSPERO
internal_repeat_2 1215 1484 5.87e-11 PROSPERO
internal_repeat_3 1287 1507 1.52e-7 PROSPERO
internal_repeat_1 1307 1536 3.17e-15 PROSPERO
internal_repeat_5 1388 1758 5.53e-5 PROSPERO
low complexity region 1767 1778 N/A INTRINSIC
low complexity region 2211 2235 N/A INTRINSIC
low complexity region 2240 2399 N/A INTRINSIC
low complexity region 2402 2420 N/A INTRINSIC
low complexity region 2446 2458 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing DBF4-type zinc finger domains. This gene is imprinted and paternally expressed in lymphocytes but is more stochastically expressed in the placenta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522H14Rik A G 4: 109,362,774 (GRCm39) Y182H probably damaging Het
Abca6 A G 11: 110,093,246 (GRCm39) V1009A probably benign Het
Abcg2 A T 6: 58,666,609 (GRCm39) I573F possibly damaging Het
Adck1 A G 12: 88,427,822 (GRCm39) T480A probably benign Het
Adcy5 T C 16: 35,092,460 (GRCm39) I607T probably damaging Het
Add2 A G 6: 86,062,997 (GRCm39) K52E probably damaging Het
Arid4a T A 12: 71,134,270 (GRCm39) S1191T probably damaging Het
Atg2a G T 19: 6,305,198 (GRCm39) C1207F possibly damaging Het
Atg2b T C 12: 105,589,034 (GRCm39) D1875G probably damaging Het
B3gntl1 A G 11: 121,520,741 (GRCm39) L224P possibly damaging Het
BC035947 A G 1: 78,475,098 (GRCm39) V478A possibly damaging Het
Cachd1 T C 4: 100,634,375 (GRCm39) V17A unknown Het
Cad T C 5: 31,219,284 (GRCm39) Y669H probably damaging Het
Ccdc110 A T 8: 46,395,233 (GRCm39) M375L probably benign Het
Cdc6 C T 11: 98,799,042 (GRCm39) probably benign Het
Cdhr4 T A 9: 107,874,111 (GRCm39) Y72* probably null Het
Cenpe T G 3: 134,952,798 (GRCm39) M1496R probably benign Het
Clec4a1 T G 6: 122,899,016 (GRCm39) C28W possibly damaging Het
Cma2 A G 14: 56,210,505 (GRCm39) N120S probably benign Het
Cped1 A T 6: 22,059,933 (GRCm39) I200L probably benign Het
Cpsf1 A T 15: 76,486,766 (GRCm39) S257T possibly damaging Het
Dnah6 G A 6: 73,189,595 (GRCm39) Q18* probably null Het
Dpp10 T C 1: 123,268,869 (GRCm39) E720G probably benign Het
Dus2 G A 8: 106,772,619 (GRCm39) R243Q probably damaging Het
Dync2h1 T C 9: 7,157,932 (GRCm39) N769S possibly damaging Het
Ece1 T A 4: 137,666,095 (GRCm39) I313N possibly damaging Het
Ern1 A T 11: 106,312,778 (GRCm39) V201E probably damaging Het
Exoc3l A G 8: 106,021,605 (GRCm39) L141P probably damaging Het
Fam168b G A 1: 34,858,789 (GRCm39) T131M probably damaging Het
Fez1 T C 9: 36,779,108 (GRCm39) F262L probably damaging Het
H2-DMa T C 17: 34,357,101 (GRCm39) Y200H probably damaging Het
H2-Eb1 T A 17: 34,533,207 (GRCm39) V143D probably damaging Het
Ighv1-39 G A 12: 114,878,488 (GRCm39) P28S probably benign Het
Inka1 C T 9: 107,861,626 (GRCm39) R230H probably damaging Het
Iqgap1 C T 7: 80,370,738 (GRCm39) V1544I probably benign Het
Itga10 A T 3: 96,560,094 (GRCm39) Q536L probably benign Het
Itih2 C T 2: 10,135,319 (GRCm39) E24K possibly damaging Het
Itsn2 A T 12: 4,689,781 (GRCm39) N618I probably damaging Het
Kcnd2 T A 6: 21,216,777 (GRCm39) S160R probably benign Het
Kif11 T A 19: 37,398,204 (GRCm39) F677I probably damaging Het
Ldlrad2 C T 4: 137,301,828 (GRCm39) C18Y probably damaging Het
Lrp4 T C 2: 91,306,959 (GRCm39) V360A probably benign Het
Lrrtm2 T C 18: 35,346,025 (GRCm39) T426A probably damaging Het
Mcidas T C 13: 113,130,622 (GRCm39) F40L probably benign Het
Med27 T A 2: 29,303,419 (GRCm39) L123Q possibly damaging Het
Mettl2 T C 11: 105,023,364 (GRCm39) V249A probably benign Het
Mllt6 C A 11: 97,565,426 (GRCm39) A592D probably benign Het
Mrps5 C T 2: 127,442,804 (GRCm39) T291I probably damaging Het
Muc16 T A 9: 18,553,016 (GRCm39) T4426S probably benign Het
Myh1 A T 11: 67,099,715 (GRCm39) M542L probably benign Het
Nlrp12 G T 7: 3,289,831 (GRCm39) A227D probably damaging Het
Nlrp14 T C 7: 106,782,314 (GRCm39) Y504H probably damaging Het
Nr1i2 T C 16: 38,086,442 (GRCm39) S8G probably benign Het
Ntrk2 A G 13: 59,133,793 (GRCm39) K524R probably damaging Het
Nup210 C T 6: 90,998,378 (GRCm39) probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or4c100 T A 2: 88,356,744 (GRCm39) Y272* probably null Het
Or52e4 T A 7: 104,706,297 (GRCm39) Y281* probably null Het
Or5h27 A T 16: 59,006,699 (GRCm39) I49N probably damaging Het
Patl1 A G 19: 11,911,094 (GRCm39) I525M probably benign Het
Pcnx3 A G 19: 5,723,364 (GRCm39) L1277P probably benign Het
Pelp1 G A 11: 70,287,425 (GRCm39) T461I probably damaging Het
Phf20 T C 2: 156,136,160 (GRCm39) C660R probably damaging Het
Pkd1l1 T A 11: 8,851,203 (GRCm39) Y1193F Het
Pknox2 G T 9: 36,868,364 (GRCm39) probably benign Het
Pml T C 9: 58,137,177 (GRCm39) T541A probably benign Het
Prss35 C T 9: 86,637,974 (GRCm39) T248I probably damaging Het
Rccd1 T A 7: 79,970,350 (GRCm39) N89I probably benign Het
Rcor3 T C 1: 191,821,824 (GRCm39) probably benign Het
Rreb1 A G 13: 38,131,040 (GRCm39) E16G unknown Het
Scgb2b12 T A 7: 32,026,060 (GRCm39) H44L probably benign Het
Sec23ip C T 7: 128,346,727 (GRCm39) probably benign Het
Sgsm1 A C 5: 113,411,566 (GRCm39) F720C probably damaging Het
Slc25a51 A T 4: 45,399,841 (GRCm39) F116L possibly damaging Het
Spats2l T C 1: 57,941,293 (GRCm39) V253A probably damaging Het
Spopl A T 2: 23,427,521 (GRCm39) F204I probably benign Het
Sqle G A 15: 59,202,603 (GRCm39) R519Q probably benign Het
Stil T G 4: 114,881,233 (GRCm39) H592Q probably benign Het
Strip1 T A 3: 107,533,046 (GRCm39) S201C probably damaging Het
Tcp11l1 C A 2: 104,530,275 (GRCm39) A70S possibly damaging Het
Tmem163 T C 1: 127,447,180 (GRCm39) probably null Het
Tmem184c A T 8: 78,324,559 (GRCm39) Y310* probably null Het
Tmem30c T C 16: 57,090,386 (GRCm39) N274D probably benign Het
Trim30c T A 7: 104,039,397 (GRCm39) I133F probably damaging Het
Vars1 C T 17: 35,223,768 (GRCm39) Q228* probably null Het
Zfp819 T G 7: 43,262,065 (GRCm39) probably null Het
Other mutations in Zdbf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Zdbf2 APN 1 63,345,673 (GRCm39) missense possibly damaging 0.92
IGL00796:Zdbf2 APN 1 63,346,364 (GRCm39) missense probably benign 0.04
IGL00801:Zdbf2 APN 1 63,342,197 (GRCm39) missense possibly damaging 0.66
IGL02803:Zdbf2 APN 1 63,342,236 (GRCm39) missense possibly damaging 0.46
R0143:Zdbf2 UTSW 1 63,347,233 (GRCm39) missense probably benign 0.01
R0147:Zdbf2 UTSW 1 63,343,165 (GRCm39) nonsense probably null
R0148:Zdbf2 UTSW 1 63,343,165 (GRCm39) nonsense probably null
R0433:Zdbf2 UTSW 1 63,345,302 (GRCm39) missense possibly damaging 0.46
R0502:Zdbf2 UTSW 1 63,344,449 (GRCm39) missense possibly damaging 0.66
R0645:Zdbf2 UTSW 1 63,344,109 (GRCm39) missense possibly damaging 0.81
R0765:Zdbf2 UTSW 1 63,344,882 (GRCm39) missense possibly damaging 0.46
R1068:Zdbf2 UTSW 1 63,342,589 (GRCm39) missense possibly damaging 0.94
R1216:Zdbf2 UTSW 1 63,342,161 (GRCm39) missense possibly damaging 0.83
R1235:Zdbf2 UTSW 1 63,348,232 (GRCm39) missense possibly damaging 0.66
R1352:Zdbf2 UTSW 1 63,342,212 (GRCm39) missense probably damaging 0.96
R1402:Zdbf2 UTSW 1 63,342,786 (GRCm39) missense possibly damaging 0.46
R1402:Zdbf2 UTSW 1 63,342,786 (GRCm39) missense possibly damaging 0.46
R1435:Zdbf2 UTSW 1 63,342,199 (GRCm39) missense possibly damaging 0.66
R1562:Zdbf2 UTSW 1 63,342,747 (GRCm39) missense possibly damaging 0.83
R1624:Zdbf2 UTSW 1 63,343,018 (GRCm39) missense possibly damaging 0.66
R1635:Zdbf2 UTSW 1 63,343,493 (GRCm39) missense possibly damaging 0.92
R1644:Zdbf2 UTSW 1 63,348,131 (GRCm39) missense possibly damaging 0.66
R1662:Zdbf2 UTSW 1 63,343,408 (GRCm39) nonsense probably null
R1700:Zdbf2 UTSW 1 63,341,900 (GRCm39) missense unknown
R1720:Zdbf2 UTSW 1 63,342,436 (GRCm39) missense possibly damaging 0.46
R1853:Zdbf2 UTSW 1 63,344,701 (GRCm39) frame shift probably null
R1854:Zdbf2 UTSW 1 63,344,701 (GRCm39) frame shift probably null
R1973:Zdbf2 UTSW 1 63,348,860 (GRCm39) missense unknown
R2336:Zdbf2 UTSW 1 63,342,623 (GRCm39) missense probably benign 0.00
R2428:Zdbf2 UTSW 1 63,344,774 (GRCm39) missense probably benign 0.04
R3010:Zdbf2 UTSW 1 63,342,224 (GRCm39) missense possibly damaging 0.92
R3034:Zdbf2 UTSW 1 63,343,364 (GRCm39) missense probably damaging 0.96
R3079:Zdbf2 UTSW 1 63,346,636 (GRCm39) missense probably benign 0.05
R3196:Zdbf2 UTSW 1 63,347,579 (GRCm39) missense possibly damaging 0.46
R3711:Zdbf2 UTSW 1 63,347,830 (GRCm39) missense possibly damaging 0.83
R3845:Zdbf2 UTSW 1 63,347,483 (GRCm39) missense possibly damaging 0.66
R4093:Zdbf2 UTSW 1 63,348,940 (GRCm39) missense possibly damaging 0.83
R4250:Zdbf2 UTSW 1 63,342,020 (GRCm39) missense possibly damaging 0.46
R4592:Zdbf2 UTSW 1 63,345,750 (GRCm39) missense possibly damaging 0.82
R4721:Zdbf2 UTSW 1 63,347,951 (GRCm39) missense possibly damaging 0.46
R4779:Zdbf2 UTSW 1 63,342,397 (GRCm39) missense possibly damaging 0.66
R4928:Zdbf2 UTSW 1 63,347,973 (GRCm39) missense possibly damaging 0.81
R4943:Zdbf2 UTSW 1 63,342,073 (GRCm39) missense possibly damaging 0.92
R5025:Zdbf2 UTSW 1 63,342,809 (GRCm39) missense possibly damaging 0.82
R5095:Zdbf2 UTSW 1 63,348,232 (GRCm39) missense possibly damaging 0.66
R5149:Zdbf2 UTSW 1 63,344,062 (GRCm39) missense possibly damaging 0.83
R5326:Zdbf2 UTSW 1 63,343,570 (GRCm39) missense possibly damaging 0.66
R5341:Zdbf2 UTSW 1 63,347,092 (GRCm39) missense probably benign 0.27
R5511:Zdbf2 UTSW 1 63,344,836 (GRCm39) missense probably benign 0.03
R5809:Zdbf2 UTSW 1 63,345,035 (GRCm39) missense possibly damaging 0.90
R5902:Zdbf2 UTSW 1 63,345,685 (GRCm39) missense possibly damaging 0.83
R6162:Zdbf2 UTSW 1 63,319,977 (GRCm39) start gained probably benign
R6245:Zdbf2 UTSW 1 63,343,592 (GRCm39) missense possibly damaging 0.46
R6332:Zdbf2 UTSW 1 63,346,981 (GRCm39) missense possibly damaging 0.66
R6361:Zdbf2 UTSW 1 63,342,480 (GRCm39) missense possibly damaging 0.66
R6489:Zdbf2 UTSW 1 63,346,637 (GRCm39) missense possibly damaging 0.46
R6517:Zdbf2 UTSW 1 63,344,679 (GRCm39) missense possibly damaging 0.81
R6624:Zdbf2 UTSW 1 63,343,073 (GRCm39) missense possibly damaging 0.46
R6643:Zdbf2 UTSW 1 63,343,667 (GRCm39) missense possibly damaging 0.82
R6786:Zdbf2 UTSW 1 63,343,679 (GRCm39) missense possibly damaging 0.46
R6808:Zdbf2 UTSW 1 63,347,687 (GRCm39) missense possibly damaging 0.66
R6896:Zdbf2 UTSW 1 63,348,031 (GRCm39) missense probably damaging 0.98
R6997:Zdbf2 UTSW 1 63,329,925 (GRCm39) missense probably benign 0.09
R7011:Zdbf2 UTSW 1 63,345,925 (GRCm39) missense possibly damaging 0.66
R7058:Zdbf2 UTSW 1 63,346,563 (GRCm39) missense possibly damaging 0.66
R7066:Zdbf2 UTSW 1 63,346,718 (GRCm39) missense probably benign
R7177:Zdbf2 UTSW 1 63,334,120 (GRCm39) missense possibly damaging 0.94
R7184:Zdbf2 UTSW 1 63,345,664 (GRCm39) missense possibly damaging 0.92
R7273:Zdbf2 UTSW 1 63,342,563 (GRCm39) missense possibly damaging 0.90
R7468:Zdbf2 UTSW 1 63,346,669 (GRCm39) missense probably benign
R7695:Zdbf2 UTSW 1 63,346,529 (GRCm39) missense possibly damaging 0.83
R7712:Zdbf2 UTSW 1 63,344,530 (GRCm39) missense possibly damaging 0.83
R7735:Zdbf2 UTSW 1 63,343,264 (GRCm39) missense possibly damaging 0.66
R7736:Zdbf2 UTSW 1 63,347,166 (GRCm39) nonsense probably null
R7759:Zdbf2 UTSW 1 63,347,535 (GRCm39) missense possibly damaging 0.46
R7796:Zdbf2 UTSW 1 63,342,583 (GRCm39) missense possibly damaging 0.90
R7908:Zdbf2 UTSW 1 63,345,986 (GRCm39) missense possibly damaging 0.46
R7970:Zdbf2 UTSW 1 63,343,330 (GRCm39) missense possibly damaging 0.92
R8076:Zdbf2 UTSW 1 63,345,260 (GRCm39) missense possibly damaging 0.92
R8152:Zdbf2 UTSW 1 63,345,572 (GRCm39) missense possibly damaging 0.92
R8195:Zdbf2 UTSW 1 63,343,225 (GRCm39) missense possibly damaging 0.83
R8272:Zdbf2 UTSW 1 63,345,142 (GRCm39) missense probably benign
R8306:Zdbf2 UTSW 1 63,343,234 (GRCm39) missense possibly damaging 0.66
R8309:Zdbf2 UTSW 1 63,345,750 (GRCm39) missense possibly damaging 0.82
R8323:Zdbf2 UTSW 1 63,342,073 (GRCm39) missense possibly damaging 0.46
R8400:Zdbf2 UTSW 1 63,344,135 (GRCm39) missense possibly damaging 0.92
R8443:Zdbf2 UTSW 1 63,345,166 (GRCm39) missense possibly damaging 0.83
R8460:Zdbf2 UTSW 1 63,348,729 (GRCm39) small deletion probably benign
R8528:Zdbf2 UTSW 1 63,342,545 (GRCm39) missense possibly damaging 0.82
R8812:Zdbf2 UTSW 1 63,347,272 (GRCm39) missense probably benign 0.00
R8962:Zdbf2 UTSW 1 63,347,162 (GRCm39) missense probably benign 0.00
R9061:Zdbf2 UTSW 1 63,346,296 (GRCm39) missense
R9072:Zdbf2 UTSW 1 63,344,923 (GRCm39) missense possibly damaging 0.83
R9232:Zdbf2 UTSW 1 63,347,168 (GRCm39) missense possibly damaging 0.66
R9257:Zdbf2 UTSW 1 63,345,400 (GRCm39) missense probably damaging 1.00
R9411:Zdbf2 UTSW 1 63,343,288 (GRCm39) missense probably damaging 0.97
R9470:Zdbf2 UTSW 1 63,344,784 (GRCm39) missense possibly damaging 0.82
R9606:Zdbf2 UTSW 1 63,342,536 (GRCm39) missense possibly damaging 0.92
R9621:Zdbf2 UTSW 1 63,342,635 (GRCm39) missense possibly damaging 0.66
RF021:Zdbf2 UTSW 1 63,341,811 (GRCm39) missense possibly damaging 0.82
X0018:Zdbf2 UTSW 1 63,344,510 (GRCm39) missense possibly damaging 0.92
X0027:Zdbf2 UTSW 1 63,347,166 (GRCm39) nonsense probably null
X0057:Zdbf2 UTSW 1 63,344,549 (GRCm39) missense possibly damaging 0.66
X0063:Zdbf2 UTSW 1 63,344,696 (GRCm39) missense probably benign 0.04
Z1176:Zdbf2 UTSW 1 63,343,404 (GRCm39) missense possibly damaging 0.83
Z1177:Zdbf2 UTSW 1 63,348,362 (GRCm39) missense unknown
Z1177:Zdbf2 UTSW 1 63,343,245 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- ACATGCTTATTCTCAGCCTAGG -3'
(R):5'- AGCTGCATCACTGTCAGAGC -3'

Sequencing Primer
(F):5'- ACTGTTTCTGGAGCAACTTCAG -3'
(R):5'- CACTGTCAGAGCTGAAACTACTTG -3'
Posted On 2019-09-13