Incidental Mutation 'R2174:Zbbx'
ID 237674
Institutional Source Beutler Lab
Gene Symbol Zbbx
Ensembl Gene ENSMUSG00000034151
Gene Name zinc finger, B-box domain containing
Synonyms
MMRRC Submission 040176-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R2174 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 74945214-75072341 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 74959721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 616 (D616A)
Ref Sequence ENSEMBL: ENSMUSP00000103407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039269] [ENSMUST00000107778]
AlphaFold Q0P5X5
Predicted Effect possibly damaging
Transcript: ENSMUST00000039269
AA Change: D611A

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043970
Gene: ENSMUSG00000034151
AA Change: D611A

DomainStartEndE-ValueType
Blast:BBOX 13 58 5e-22 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000107778
AA Change: D616A

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103407
Gene: ENSMUSG00000034151
AA Change: D616A

DomainStartEndE-ValueType
Blast:BBOX 13 58 5e-22 BLAST
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 99% (73/74)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C10Rik T C 7: 37,894,252 (GRCm39) I95T possibly damaging Het
Adarb1 A G 10: 77,131,632 (GRCm39) I619T probably benign Het
Aldh2 T C 5: 121,710,731 (GRCm39) probably benign Het
Antxrl T A 14: 33,782,357 (GRCm39) L180Q probably damaging Het
Asnsd1 A T 1: 53,386,760 (GRCm39) I289N probably benign Het
Asxl3 T G 18: 22,586,701 (GRCm39) S164A possibly damaging Het
Cacnb2 C T 2: 14,963,578 (GRCm39) T108I probably benign Het
Capn2 A T 1: 182,307,290 (GRCm39) I516N probably benign Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Cenpo T C 12: 4,267,318 (GRCm39) K73R probably benign Het
Cfap20dc T C 14: 8,558,109 (GRCm38) I159V probably benign Het
Clasp1 A G 1: 118,487,825 (GRCm39) H823R probably damaging Het
Col6a4 T C 9: 105,937,331 (GRCm39) D1395G probably damaging Het
Ddx60 A G 8: 62,409,175 (GRCm39) I404V probably damaging Het
Ddx60 G T 8: 62,470,234 (GRCm39) M1407I probably benign Het
Dennd3 A T 15: 73,427,154 (GRCm39) R844W probably damaging Het
Depdc1b A T 13: 108,498,787 (GRCm39) K157* probably null Het
Dnai7 T C 6: 145,120,896 (GRCm39) H641R probably damaging Het
Dnajc1 T C 2: 18,312,762 (GRCm39) D196G probably damaging Het
Fanca A G 8: 123,998,009 (GRCm39) W1226R probably benign Het
Fbxl13 A G 5: 21,787,046 (GRCm39) V297A possibly damaging Het
Fnta A T 8: 26,503,498 (GRCm39) F96I possibly damaging Het
Fzd3 T C 14: 65,449,680 (GRCm39) probably benign Het
Gckr T C 5: 31,484,353 (GRCm39) V597A possibly damaging Het
Gm43302 T C 5: 105,422,216 (GRCm39) K496R probably benign Het
Gm5283 A G 3: 17,285,005 (GRCm39) noncoding transcript Het
Gm6741 A G 17: 91,544,332 (GRCm39) I32V probably benign Het
Gnptab T A 10: 88,269,906 (GRCm39) F870I probably damaging Het
Gpx8 G A 13: 113,182,140 (GRCm39) P98S probably benign Het
Grm2 T C 9: 106,524,994 (GRCm39) I574V probably benign Het
Gtf3c5 T C 2: 28,457,787 (GRCm39) D468G probably benign Het
Hectd3 A T 4: 116,856,898 (GRCm39) M482L probably benign Het
Ier5 G T 1: 154,974,599 (GRCm39) P193H possibly damaging Het
Inpp4a A G 1: 37,435,211 (GRCm39) N827S probably damaging Het
Kif13a A G 13: 46,922,652 (GRCm39) L387P probably damaging Het
Map3k1 G C 13: 111,889,016 (GRCm39) H1314D possibly damaging Het
Mbl2 G A 19: 30,211,412 (GRCm39) C11Y possibly damaging Het
Msr1 A G 8: 40,084,381 (GRCm39) L58P probably damaging Het
Mtmr10 T A 7: 63,986,512 (GRCm39) F530Y possibly damaging Het
Myo7b A G 18: 32,116,610 (GRCm39) L999P probably damaging Het
Myoz3 T C 18: 60,723,296 (GRCm39) E8G probably benign Het
Naip6 C A 13: 100,435,495 (GRCm39) M1009I probably benign Het
Nav2 T A 7: 49,102,411 (GRCm39) M342K probably damaging Het
Ndufaf6 T C 4: 11,070,228 (GRCm39) H131R probably benign Het
Nlrp4a T C 7: 26,148,849 (GRCm39) L152P probably damaging Het
Or9s23 A G 1: 92,501,379 (GRCm39) N162S probably benign Het
Pan3 T C 5: 147,387,463 (GRCm39) I144T possibly damaging Het
Prkdc A T 16: 15,552,786 (GRCm39) Q2074L probably benign Het
Pthlh G A 6: 147,158,510 (GRCm39) T150I probably benign Het
Ptprq A T 10: 107,541,414 (GRCm39) Y371N probably damaging Het
Rfwd3 A G 8: 112,009,975 (GRCm39) S377P probably damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Sap130 T C 18: 31,810,532 (GRCm39) probably null Het
Sap25 T G 5: 137,640,891 (GRCm39) M229R possibly damaging Het
Scaper A T 9: 55,766,321 (GRCm39) V479E probably null Het
Scn3a T A 2: 65,337,550 (GRCm39) D649V probably damaging Het
Slco1a7 A T 6: 141,673,319 (GRCm39) Y406* probably null Het
Smc1b A G 15: 85,006,052 (GRCm39) probably benign Het
Sowahb T C 5: 93,192,284 (GRCm39) E145G possibly damaging Het
Stxbp5 T A 10: 9,711,590 (GRCm39) I277F possibly damaging Het
Tanc1 T C 2: 59,674,177 (GRCm39) S1754P possibly damaging Het
Tanc2 A G 11: 105,801,135 (GRCm39) D1117G probably benign Het
Tbc1d31 A G 15: 57,815,137 (GRCm39) M605V possibly damaging Het
Tekt3 A T 11: 62,985,514 (GRCm39) D440V possibly damaging Het
Tmem67 C T 4: 12,063,730 (GRCm39) W477* probably null Het
Tra2a T C 6: 49,227,861 (GRCm39) probably benign Het
Trappc12 A G 12: 28,797,380 (GRCm39) F51L possibly damaging Het
Trrap C A 5: 144,758,665 (GRCm39) P2183Q probably benign Het
Ubn2 T A 6: 38,447,076 (GRCm39) probably null Het
Unc5d A T 8: 29,184,568 (GRCm39) V644E probably damaging Het
Xpo4 A G 14: 57,827,547 (GRCm39) L883P probably damaging Het
Zfp943 T A 17: 22,211,804 (GRCm39) C297S probably damaging Het
Other mutations in Zbbx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Zbbx APN 3 74,968,839 (GRCm39) critical splice donor site probably null
IGL01328:Zbbx APN 3 75,000,382 (GRCm39) nonsense probably null
IGL01340:Zbbx APN 3 75,012,957 (GRCm39) missense possibly damaging 0.53
IGL01631:Zbbx APN 3 74,985,984 (GRCm39) missense probably damaging 0.99
IGL01681:Zbbx APN 3 74,959,785 (GRCm39) missense probably damaging 1.00
IGL02427:Zbbx APN 3 75,046,905 (GRCm39) missense probably benign 0.04
IGL03077:Zbbx APN 3 74,989,153 (GRCm39) missense possibly damaging 0.61
IGL03115:Zbbx APN 3 74,985,867 (GRCm39) missense probably benign 0.03
IGL03162:Zbbx APN 3 74,978,930 (GRCm39) splice site probably benign
Eland UTSW 3 74,979,019 (GRCm39) missense probably benign 0.01
PIT4480001:Zbbx UTSW 3 75,043,794 (GRCm39) missense probably damaging 1.00
PIT4495001:Zbbx UTSW 3 74,968,944 (GRCm39) missense probably damaging 1.00
R0179:Zbbx UTSW 3 74,992,869 (GRCm39) splice site probably benign
R0396:Zbbx UTSW 3 74,985,802 (GRCm39) missense possibly damaging 0.81
R0523:Zbbx UTSW 3 74,989,165 (GRCm39) missense probably benign 0.03
R0603:Zbbx UTSW 3 74,985,757 (GRCm39) missense probably benign 0.05
R0745:Zbbx UTSW 3 75,062,734 (GRCm39) missense probably damaging 1.00
R0747:Zbbx UTSW 3 75,062,734 (GRCm39) missense probably damaging 1.00
R1208:Zbbx UTSW 3 74,945,299 (GRCm39) missense possibly damaging 0.94
R1208:Zbbx UTSW 3 74,945,299 (GRCm39) missense possibly damaging 0.94
R1371:Zbbx UTSW 3 74,959,784 (GRCm39) missense possibly damaging 0.58
R1769:Zbbx UTSW 3 74,990,926 (GRCm39) splice site probably benign
R1906:Zbbx UTSW 3 74,979,047 (GRCm39) missense probably damaging 1.00
R2069:Zbbx UTSW 3 74,985,719 (GRCm39) missense probably benign 0.01
R2165:Zbbx UTSW 3 75,019,414 (GRCm39) missense probably damaging 0.99
R2979:Zbbx UTSW 3 74,985,793 (GRCm39) nonsense probably null
R3121:Zbbx UTSW 3 74,989,153 (GRCm39) missense possibly damaging 0.88
R3755:Zbbx UTSW 3 75,012,978 (GRCm39) missense probably damaging 1.00
R3756:Zbbx UTSW 3 75,012,978 (GRCm39) missense probably damaging 1.00
R3816:Zbbx UTSW 3 74,992,802 (GRCm39) missense probably benign 0.00
R4002:Zbbx UTSW 3 75,012,978 (GRCm39) missense probably damaging 1.00
R4003:Zbbx UTSW 3 75,012,978 (GRCm39) missense probably damaging 1.00
R4057:Zbbx UTSW 3 75,012,978 (GRCm39) missense probably damaging 1.00
R4072:Zbbx UTSW 3 75,012,978 (GRCm39) missense probably damaging 1.00
R4073:Zbbx UTSW 3 75,012,978 (GRCm39) missense probably damaging 1.00
R4075:Zbbx UTSW 3 75,012,978 (GRCm39) missense probably damaging 1.00
R4114:Zbbx UTSW 3 75,046,905 (GRCm39) missense probably benign 0.04
R4784:Zbbx UTSW 3 74,992,348 (GRCm39) missense probably benign 0.05
R4821:Zbbx UTSW 3 74,989,054 (GRCm39) missense possibly damaging 0.68
R5008:Zbbx UTSW 3 75,058,755 (GRCm39) missense possibly damaging 0.62
R5030:Zbbx UTSW 3 74,990,990 (GRCm39) missense possibly damaging 0.83
R5388:Zbbx UTSW 3 74,990,977 (GRCm39) missense probably damaging 0.98
R6398:Zbbx UTSW 3 74,985,872 (GRCm39) missense probably damaging 0.96
R6462:Zbbx UTSW 3 74,985,966 (GRCm39) missense probably benign 0.07
R6597:Zbbx UTSW 3 75,043,761 (GRCm39) missense probably damaging 1.00
R6882:Zbbx UTSW 3 74,979,019 (GRCm39) missense probably benign 0.01
R7084:Zbbx UTSW 3 75,046,853 (GRCm39) missense possibly damaging 0.92
R7096:Zbbx UTSW 3 74,989,044 (GRCm39) missense probably benign 0.03
R7102:Zbbx UTSW 3 75,019,401 (GRCm39) missense probably benign 0.06
R7256:Zbbx UTSW 3 74,947,205 (GRCm39) missense probably benign 0.02
R7537:Zbbx UTSW 3 74,992,826 (GRCm39) missense probably damaging 1.00
R7836:Zbbx UTSW 3 74,985,781 (GRCm39) missense possibly damaging 0.65
R7905:Zbbx UTSW 3 74,992,820 (GRCm39) missense probably benign 0.23
R8110:Zbbx UTSW 3 75,062,749 (GRCm39) missense possibly damaging 0.58
R8367:Zbbx UTSW 3 74,989,034 (GRCm39) critical splice donor site probably null
R8772:Zbbx UTSW 3 75,062,692 (GRCm39) missense probably benign 0.37
R8859:Zbbx UTSW 3 74,968,741 (GRCm39) missense unknown
R9012:Zbbx UTSW 3 74,968,960 (GRCm39) missense possibly damaging 0.73
R9062:Zbbx UTSW 3 74,989,124 (GRCm39) missense possibly damaging 0.78
R9119:Zbbx UTSW 3 74,985,897 (GRCm39) missense probably damaging 0.99
R9401:Zbbx UTSW 3 75,019,390 (GRCm39) missense probably benign 0.26
R9531:Zbbx UTSW 3 74,985,865 (GRCm39) missense probably damaging 1.00
R9678:Zbbx UTSW 3 75,046,841 (GRCm39) missense probably damaging 1.00
R9736:Zbbx UTSW 3 74,968,741 (GRCm39) missense unknown
R9780:Zbbx UTSW 3 74,945,359 (GRCm39) missense probably damaging 1.00
Z1177:Zbbx UTSW 3 75,012,991 (GRCm39) missense probably damaging 0.98
Z1177:Zbbx UTSW 3 74,979,090 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TCTAACATGTGTGTACCTGTGATT -3'
(R):5'- TCCTATTTCCAATCCCGATCAAA -3'

Sequencing Primer
(F):5'- GAAAGCCTGCCCTTTTCTGAAGAG -3'
(R):5'- AAAAGACACCAGCTGCCTTTTGTTC -3'
Posted On 2014-10-02