Incidental Mutation 'R7468:Zdbf2'
ID 578921
Institutional Source Beutler Lab
Gene Symbol Zdbf2
Ensembl Gene ENSMUSG00000027520
Gene Name zinc finger, DBF-type containing 2
Synonyms 4930431J08Rik, 9330107J05Rik
MMRRC Submission 045542-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R7468 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 63312424-63353735 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 63346669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 1683 (C1683S)
Ref Sequence ENSEMBL: ENSMUSP00000029025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029025] [ENSMUST00000114132]
AlphaFold Q5SS00
Predicted Effect probably benign
Transcript: ENSMUST00000029025
AA Change: C1683S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029025
Gene: ENSMUSG00000027520
AA Change: C1683S

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 probably benign
Transcript: ENSMUST00000114132
AA Change: C1683S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109767
Gene: ENSMUSG00000027520
AA Change: C1683S

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: 99.1%
Validation Efficiency 98% (86/88)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 T G 1: 156,450,104 (GRCm39) N90K possibly damaging Het
Acox1 T C 11: 116,069,001 (GRCm39) T415A possibly damaging Het
Acy1 T C 9: 106,314,921 (GRCm39) M1V probably null Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Alpk3 C A 7: 80,750,746 (GRCm39) Y1505* probably null Het
Ankrd17 T C 5: 90,390,902 (GRCm39) N2256S probably benign Het
Ankrd22 C A 19: 34,126,692 (GRCm39) C46F possibly damaging Het
Arhgef5 A T 6: 43,257,605 (GRCm39) K1291* probably null Het
Arl9 T A 5: 77,158,276 (GRCm39) Y119* probably null Het
Asb14 T C 14: 26,622,805 (GRCm39) V89A probably benign Het
Banp T G 8: 122,676,588 (GRCm39) probably null Het
Btn2a2 T C 13: 23,666,933 (GRCm39) N224S probably benign Het
C1ra C T 6: 124,499,403 (GRCm39) Q530* probably null Het
C2cd6 A C 1: 59,107,844 (GRCm39) S273A probably benign Het
Cd1d2 A T 3: 86,895,583 (GRCm39) probably null Het
Cdc42bpb T C 12: 111,306,307 (GRCm39) D132G probably damaging Het
Cfap45 C A 1: 172,362,877 (GRCm39) Y289* probably null Het
Chrdl2 T C 7: 99,659,332 (GRCm39) probably null Het
Cilk1 A G 9: 78,065,221 (GRCm39) K377R probably benign Het
Cst5 C T 2: 149,247,496 (GRCm39) L71F probably benign Het
Dcaf11 T C 14: 55,802,966 (GRCm39) F292L possibly damaging Het
Dgcr8 A G 16: 18,077,487 (GRCm39) F641S probably damaging Het
Dnm3 G A 1: 162,149,198 (GRCm39) probably null Het
Efcab3 G T 11: 104,640,526 (GRCm39) S1088I probably benign Het
Eral1 T C 11: 77,966,219 (GRCm39) K320E probably damaging Het
Eva1a A G 6: 82,069,002 (GRCm39) T110A possibly damaging Het
Fbxo42 A G 4: 140,926,917 (GRCm39) D399G possibly damaging Het
Frs2 T C 10: 116,910,007 (GRCm39) T452A possibly damaging Het
Git2 T A 5: 114,871,958 (GRCm39) D542V probably damaging Het
Grk2 T A 19: 4,356,063 (GRCm39) probably benign Het
Gsg1l2 A G 11: 67,676,110 (GRCm39) N158S possibly damaging Het
Hc T C 2: 34,918,063 (GRCm39) N740S probably benign Het
Hectd1 T C 12: 51,791,588 (GRCm39) probably null Het
Hemk1 A G 9: 107,208,288 (GRCm39) probably null Het
Hormad2 G T 11: 4,362,245 (GRCm39) Y126* probably null Het
Hr A G 14: 70,795,652 (GRCm39) E399G possibly damaging Het
Ilf3 C A 9: 21,314,707 (GRCm39) H780N unknown Het
Inpp5e A T 2: 26,298,161 (GRCm39) S147T probably benign Het
Irag2 C A 6: 145,119,427 (GRCm39) probably null Het
Jmjd6 T C 11: 116,733,275 (GRCm39) D134G probably damaging Het
Kif23 G T 9: 61,844,457 (GRCm39) Y120* probably null Het
Klk12 T A 7: 43,422,780 (GRCm39) Y236N probably damaging Het
Kmt5b C A 19: 3,852,799 (GRCm39) Y186* probably null Het
Krtap9-5 A G 11: 99,840,132 (GRCm39) T278A unknown Het
Lca5 T A 9: 83,305,509 (GRCm39) D99V probably damaging Het
Leng9 A G 7: 4,151,800 (GRCm39) V292A probably benign Het
Lime1 A G 2: 181,025,135 (GRCm39) R231G probably benign Het
Mctp2 T A 7: 71,861,438 (GRCm39) E402D probably damaging Het
Mrpl28 T A 17: 26,343,589 (GRCm39) S116R probably damaging Het
Muc15 A T 2: 110,561,862 (GRCm39) R99S probably benign Het
Myh2 G A 11: 67,083,368 (GRCm39) A1444T probably benign Het
Mynn T A 3: 30,657,825 (GRCm39) Y48N probably damaging Het
Myo1b A T 1: 51,836,639 (GRCm39) V274E possibly damaging Het
Nemp1 T A 10: 127,528,923 (GRCm39) M209K possibly damaging Het
Nlrc4 G T 17: 74,752,507 (GRCm39) D625E probably benign Het
Or10al6 C T 17: 38,082,910 (GRCm39) A122V probably damaging Het
Or11a4 T C 17: 37,536,276 (GRCm39) F87L probably benign Het
Or4p4 T C 2: 88,482,622 (GRCm39) L42P probably damaging Het
Otog T C 7: 45,913,543 (GRCm39) V792A probably benign Het
Paqr8 T C 1: 21,005,442 (GRCm39) Y199H probably damaging Het
Popdc3 A G 10: 45,191,117 (GRCm39) D76G probably damaging Het
Ppme1 T C 7: 99,991,069 (GRCm39) N210D probably benign Het
Prdm15 A C 16: 97,636,842 (GRCm39) Y158* probably null Het
Prrg2 A T 7: 44,709,687 (GRCm39) L70Q probably benign Het
Psmg4 C T 13: 34,361,966 (GRCm39) R85W probably damaging Het
Rab11fip4 A T 11: 79,580,478 (GRCm39) T437S probably benign Het
Rap2a T A 14: 120,716,338 (GRCm39) M67K probably damaging Het
Rnf123 A T 9: 107,946,208 (GRCm39) H322Q probably benign Het
Rxfp2 A T 5: 149,990,801 (GRCm39) T521S possibly damaging Het
Scrn2 T G 11: 96,923,992 (GRCm39) V292G possibly damaging Het
Serpina3n C A 12: 104,377,656 (GRCm39) P303H probably benign Het
Spop C T 11: 95,376,727 (GRCm39) T260M probably damaging Het
Surf2 G A 2: 26,809,354 (GRCm39) G224D probably benign Het
Synm T G 7: 67,382,971 (GRCm39) N669T unknown Het
Tmprss13 T C 9: 45,239,721 (GRCm39) S10P unknown Het
Trav9d-1 T A 14: 53,029,970 (GRCm39) S25T probably benign Het
Trpc3 A T 3: 36,678,565 (GRCm39) I840K probably damaging Het
Tsbp1 T A 17: 34,636,539 (GRCm39) probably null Het
Tssc4 C A 7: 142,622,999 (GRCm39) probably benign Het
Ttc39d G T 17: 80,523,579 (GRCm39) R79S possibly damaging Het
Txlnb T A 10: 17,675,082 (GRCm39) S78R probably damaging Het
Vmn1r142 T A 7: 21,862,784 (GRCm39) Q226L possibly damaging Het
Vmn1r230 T C 17: 21,067,146 (GRCm39) S112P probably damaging Het
Wrnip1 T C 13: 33,000,360 (GRCm39) F456L possibly damaging Het
Zc3h8 G T 2: 128,775,215 (GRCm39) H148Q probably benign Het
Zcchc3 A G 2: 152,256,615 (GRCm39) V28A probably benign Het
Zfp874a T C 13: 67,573,723 (GRCm39) probably null Het
Zmym4 A G 4: 126,776,029 (GRCm39) S1260P probably benign 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
R7387:Zdbf2 UTSW 1 63,343,198 (GRCm39) missense possibly damaging 0.46
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'- GAAGCCTCTCAGTCAGTGAC -3'
(R):5'- CTGTTTGGCGAATCACTGACAC -3'

Sequencing Primer
(F):5'- GCCTCTCAGTCAGTGACAAACC -3'
(R):5'- ACAGCATAGGCAGCATGGTCTC -3'
Posted On 2019-10-07