Incidental Mutation 'R5326:Zdbf2'
ID 421919
Institutional Source Beutler Lab
Gene Symbol Zdbf2
Ensembl Gene ENSMUSG00000027520
Gene Name zinc finger, DBF-type containing 2
Synonyms 4930431J08Rik, 9330107J05Rik
MMRRC Submission 042909-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R5326 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 63312424-63353735 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 63343570 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 650 (C650G)
Ref Sequence ENSEMBL: ENSMUSP00000109767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029025] [ENSMUST00000114132]
AlphaFold Q5SS00
Predicted Effect possibly damaging
Transcript: ENSMUST00000029025
AA Change: C650G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029025
Gene: ENSMUSG00000027520
AA Change: C650G

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 noncoding transcript
Transcript: ENSMUST00000083151
Predicted Effect possibly damaging
Transcript: ENSMUST00000114132
AA Change: C650G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109767
Gene: ENSMUSG00000027520
AA Change: C650G

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: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,138,336 (GRCm39) T127A probably damaging Het
Aadacl2 C T 3: 59,932,484 (GRCm39) T333I probably damaging Het
Actl6b T C 5: 137,565,313 (GRCm39) S366P probably damaging Het
Actr10 T C 12: 71,001,430 (GRCm39) probably benign Het
Adgrf5 T A 17: 43,750,965 (GRCm39) I510N probably damaging Het
Adra2a A G 19: 54,035,112 (GRCm39) Y156C probably damaging Het
Angpt4 T C 2: 151,767,464 (GRCm39) probably null Het
Ankdd1a T A 9: 65,411,472 (GRCm39) probably null Het
AW146154 C A 7: 41,130,801 (GRCm39) G105V probably benign Het
Brd3 A G 2: 27,340,556 (GRCm39) L551P probably benign Het
Calb2 C T 8: 110,883,610 (GRCm39) G38D possibly damaging Het
Cand1 G A 10: 119,047,933 (GRCm39) A519V probably benign Het
Cnbd1 T C 4: 18,860,517 (GRCm39) T410A possibly damaging Het
Cndp2 A T 18: 84,690,201 (GRCm39) M247K probably damaging Het
Cog6 T A 3: 52,921,237 (GRCm39) Q123L probably null Het
Crx G A 7: 15,602,262 (GRCm39) R139C probably damaging Het
Ctrc A G 4: 141,571,037 (GRCm39) Y68H probably damaging Het
Ddx4 T C 13: 112,757,779 (GRCm39) D326G probably damaging Het
Depdc1a T C 3: 159,232,286 (GRCm39) V679A probably damaging Het
Dyrk1a A G 16: 94,487,440 (GRCm39) D512G probably damaging Het
Edem1 C T 6: 108,831,290 (GRCm39) R584C possibly damaging Het
Emcn A G 3: 137,085,638 (GRCm39) T79A probably benign Het
Fbrsl1 C T 5: 110,526,307 (GRCm39) G437R probably damaging Het
Fbxo9 T C 9: 78,008,938 (GRCm39) M12V possibly damaging Het
Fcgbpl1 A T 7: 27,854,914 (GRCm39) I1847F probably damaging Het
Flii A G 11: 60,609,688 (GRCm39) S640P probably benign Het
Frs2 T C 10: 116,913,468 (GRCm39) S121G probably benign Het
Fsip2 A T 2: 82,812,207 (GRCm39) N2842I possibly damaging Het
Fst G T 13: 114,592,241 (GRCm39) Q159K probably damaging Het
Ggt1 T C 10: 75,421,540 (GRCm39) probably null Het
Gigyf2 T C 1: 87,352,860 (GRCm39) probably benign Het
Gm10439 T G X: 148,419,159 (GRCm39) *434E probably null Het
Gm9476 T A 10: 100,142,996 (GRCm39) noncoding transcript Het
Gmcl1 A T 6: 86,703,127 (GRCm39) N102K possibly damaging Het
Gml T C 15: 74,688,299 (GRCm39) N56S probably damaging Het
Gpam A C 19: 55,079,597 (GRCm39) S128R probably benign Het
Gucy1b2 C T 14: 62,690,779 (GRCm39) probably null Het
Hhipl2 A G 1: 183,214,055 (GRCm39) D377G probably damaging Het
Hmx3 C T 7: 131,146,146 (GRCm39) Q285* probably null Het
Hspa14 A G 2: 3,503,560 (GRCm39) V116A possibly damaging Het
Ighv5-17 T C 12: 113,822,878 (GRCm39) D81G possibly damaging Het
Ipo5 T C 14: 121,163,683 (GRCm39) V247A probably benign Het
Iqcd A G 5: 120,740,440 (GRCm39) Q257R probably damaging Het
Itpk1 T C 12: 102,540,225 (GRCm39) N286S possibly damaging Het
Knl1 T A 2: 118,898,829 (GRCm39) C177S possibly damaging Het
Knop1 T C 7: 118,452,495 (GRCm39) K23E possibly damaging Het
Ksr2 T A 5: 117,846,305 (GRCm39) V724E probably damaging Het
Lrrc17 G A 5: 21,780,156 (GRCm39) G377S probably damaging Het
Macf1 GCCCCC GCCCCCC 4: 123,244,784 (GRCm39) probably null Het
Morc2b T A 17: 33,355,907 (GRCm39) T622S probably benign Het
Msantd2 G A 9: 37,428,555 (GRCm39) G185R probably damaging Het
Mtmr2 A G 9: 13,699,943 (GRCm39) Y38C probably damaging Het
Mycbpap A T 11: 94,398,572 (GRCm39) probably null Het
Nadsyn1 T A 7: 143,362,567 (GRCm39) R279W probably benign Het
Or1e25 T A 11: 73,494,030 (GRCm39) V208E possibly damaging Het
Or2t48 A C 11: 58,420,710 (GRCm39) V34G probably benign Het
Or56b35 T A 7: 104,963,646 (GRCm39) F145Y probably damaging Het
Or7a38 G A 10: 78,753,420 (GRCm39) V249I possibly damaging Het
Pcdhga4 A T 18: 37,819,651 (GRCm39) Y400F probably damaging Het
Pkd2 A G 5: 104,634,515 (GRCm39) silent Het
Prkar1b T C 5: 139,113,544 (GRCm39) probably null Het
Ric8b T C 10: 84,828,076 (GRCm39) Y467H probably damaging Het
Rin1 A G 19: 5,102,652 (GRCm39) E387G probably damaging Het
Robo2 G A 16: 73,695,853 (GRCm39) T1430I probably benign Het
Seh1l C T 18: 67,908,069 (GRCm39) probably benign Het
Slc37a1 A T 17: 31,559,236 (GRCm39) T439S probably damaging Het
Slc6a6 T C 6: 91,712,170 (GRCm39) F233S probably damaging Het
Smyd3 A T 1: 179,238,024 (GRCm39) D114E probably benign Het
Snrnp70 GCGGTCCCGGTCCCGGTC GCGGTCCCGGTC 7: 45,026,657 (GRCm39) probably benign Het
Speer4a1 T A 5: 26,241,736 (GRCm39) N130I probably damaging Het
Spin1 A G 13: 51,293,563 (GRCm39) Y91C probably damaging Het
Tdrd7 T C 4: 46,029,757 (GRCm39) V1030A probably benign Het
Trim30c T A 7: 104,037,511 (GRCm39) M152L possibly damaging Het
Tsga10 T A 1: 37,800,598 (GRCm39) D542V probably damaging Het
Unc93a2 A T 17: 7,637,187 (GRCm39) C334S probably benign Het
Vmn1r175 A T 7: 23,508,531 (GRCm39) I32N possibly damaging Het
Vmn1r81 A T 7: 11,994,034 (GRCm39) D191E probably damaging Het
Wdr11 T C 7: 129,226,973 (GRCm39) S812P probably damaging Het
Zbtb5 C A 4: 44,995,052 (GRCm39) V111F probably damaging Het
Zfp282 T A 6: 47,882,261 (GRCm39) N649K 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
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
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'- ACAGTGATGCAGCTCTGGAC -3'
(R):5'- GCCCCTTGAGGTTGATCATTAGC -3'

Sequencing Primer
(F):5'- CCAGGTGCCTGTTCAAGAAG -3'
(R):5'- CTGACTGATAAGAAGCATTGGAATC -3'
Posted On 2016-08-04