Incidental Mutation 'R5883:Bop1'
ID 454533
Institutional Source Beutler Lab
Gene Symbol Bop1
Ensembl Gene ENSMUSG00000022557
Gene Name block of proliferation 1
Synonyms Erb1p
MMRRC Submission 044086-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.936) question?
Stock # R5883 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 76337188-76361449 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76339049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 383 (D383G)
Ref Sequence ENSEMBL: ENSMUSP00000023217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023217] [ENSMUST00000043089] [ENSMUST00000096385]
AlphaFold P97452
Predicted Effect probably damaging
Transcript: ENSMUST00000023217
AA Change: D383G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023217
Gene: ENSMUSG00000022557
AA Change: D383G

DomainStartEndE-ValueType
low complexity region 31 48 N/A INTRINSIC
low complexity region 106 117 N/A INTRINSIC
BOP1NT 130 388 1.38e-177 SMART
WD40 388 427 1.16e-9 SMART
WD40 430 469 6.16e0 SMART
WD40 508 551 7.1e1 SMART
WD40 554 592 4.46e-1 SMART
WD40 595 634 2.76e-2 SMART
WD40 638 677 4.14e-6 SMART
WD40 689 732 3.14e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000043089
SMART Domains Protein: ENSMUSP00000043668
Gene: ENSMUSG00000034161

DomainStartEndE-ValueType
low complexity region 24 38 N/A INTRINSIC
low complexity region 45 80 N/A INTRINSIC
HLH 84 136 1.46e-16 SMART
low complexity region 161 171 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000096385
SMART Domains Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558

DomainStartEndE-ValueType
low complexity region 442 455 N/A INTRINSIC
low complexity region 594 607 N/A INTRINSIC
low complexity region 799 810 N/A INTRINSIC
low complexity region 935 946 N/A INTRINSIC
low complexity region 1191 1202 N/A INTRINSIC
low complexity region 1355 1367 N/A INTRINSIC
low complexity region 1488 1502 N/A INTRINSIC
Pfam:HEAT 1610 1640 2.2e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160525
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160806
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160986
Predicted Effect probably benign
Transcript: ENSMUST00000161265
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161352
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229271
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229132
Meta Mutation Damage Score 0.4246 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 95.9%
  • 20x: 83.7%
Validation Efficiency 100% (70/70)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik G A 8: 120,872,380 (GRCm39) V103I possibly damaging Het
Aass G A 6: 23,072,993 (GRCm39) T920I probably benign Het
Akirin2 A G 4: 34,565,256 (GRCm39) I168V possibly damaging Het
Ambn T A 5: 88,615,688 (GRCm39) Y372* probably null Het
Ano3 T A 2: 110,711,209 (GRCm39) E85V probably null Het
Bmf C T 2: 118,377,447 (GRCm39) silent Het
Bmper T A 9: 23,317,970 (GRCm39) S530T probably benign Het
Bub1b T A 2: 118,440,363 (GRCm39) Y156N probably damaging Het
Cacna1h A G 17: 25,595,896 (GRCm39) V1987A probably benign Het
Cd84 T C 1: 171,700,405 (GRCm39) V174A possibly damaging Het
Cep290 T A 10: 100,359,261 (GRCm39) L997Q probably benign Het
Chil4 C T 3: 106,117,886 (GRCm39) R128H possibly damaging Het
Cpne3 A T 4: 19,552,314 (GRCm39) V106D possibly damaging Het
D6Wsu163e A G 6: 126,943,879 (GRCm39) E425G probably damaging Het
Dlgap1 A T 17: 70,824,008 (GRCm39) probably benign Het
Dnhd1 C A 7: 105,369,711 (GRCm39) H4379N probably damaging Het
Gm10309 A G 17: 86,806,185 (GRCm39) probably benign Het
Gm6264 G A 1: 85,148,903 (GRCm39) probably benign Het
Has2 T A 15: 56,531,459 (GRCm39) I419F possibly damaging Het
Hscb A G 5: 110,987,444 (GRCm39) C51R probably benign Het
Ighv1-61 T C 12: 115,323,183 (GRCm39) S4G probably benign Het
Islr2 G T 9: 58,105,998 (GRCm39) Q465K probably benign Het
Jakmip2 T C 18: 43,715,059 (GRCm39) I156V possibly damaging Het
Klk1b24 A G 7: 43,839,787 (GRCm39) I49V probably benign Het
Krt90 C T 15: 101,461,654 (GRCm39) probably benign Het
Larp1 C T 11: 57,933,125 (GRCm39) S243F probably damaging Het
Lrp4 T C 2: 91,318,778 (GRCm39) Y872H probably benign Het
Maip1 T C 1: 57,446,260 (GRCm39) M110T probably damaging Het
Marchf7 G A 2: 60,064,786 (GRCm39) R354Q probably damaging Het
Med12l G T 3: 58,998,889 (GRCm39) E605D probably damaging Het
Nt5c1a T A 4: 123,110,049 (GRCm39) probably null Het
Or2j6 T A 7: 139,980,101 (GRCm39) Y286F probably damaging Het
Or5ac25 A T 16: 59,182,078 (GRCm39) C168S probably damaging Het
Or5p66 C T 7: 107,885,451 (GRCm39) S294N probably damaging Het
Pdzd9 T A 7: 120,267,776 (GRCm39) E13V possibly damaging Het
Ppip5k2 C T 1: 97,635,535 (GRCm39) A1100T possibly damaging Het
Prkdc C A 16: 15,533,778 (GRCm39) Q1539K probably benign Het
Rad54l C G 4: 115,956,243 (GRCm39) probably benign Het
Ric1 T A 19: 29,573,389 (GRCm39) I943N probably damaging Het
Rif1 T A 2: 51,995,651 (GRCm39) probably null Het
Rpl12 T C 2: 32,852,536 (GRCm39) probably benign Het
Ryr3 T C 2: 112,860,637 (GRCm39) probably benign Het
Scarb1 C A 5: 125,417,971 (GRCm39) probably benign Het
Sox10 T C 15: 79,040,463 (GRCm39) E359G probably damaging Het
Taf5 A G 19: 47,056,228 (GRCm39) T9A unknown Het
Tmem128 C T 5: 38,423,885 (GRCm39) A33V possibly damaging Het
Tox A C 4: 6,697,444 (GRCm39) V453G probably benign Het
Ubxn4 T A 1: 128,183,867 (GRCm39) C76S probably damaging Het
Vmn2r100 A T 17: 19,743,786 (GRCm39) Y483F probably benign Het
Xkr5 A G 8: 18,990,806 (GRCm39) S154P probably damaging Het
Zfp687 T C 3: 94,919,355 (GRCm39) N139S probably benign Het
Other mutations in Bop1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00436:Bop1 APN 15 76,338,728 (GRCm39) missense probably benign 0.04
IGL01085:Bop1 APN 15 76,337,576 (GRCm39) missense probably damaging 1.00
IGL02157:Bop1 APN 15 76,339,772 (GRCm39) missense possibly damaging 0.70
R0332:Bop1 UTSW 15 76,340,187 (GRCm39) missense probably damaging 1.00
R2148:Bop1 UTSW 15 76,339,487 (GRCm39) missense probably damaging 0.96
R3979:Bop1 UTSW 15 76,338,076 (GRCm39) missense probably damaging 1.00
R4133:Bop1 UTSW 15 76,338,535 (GRCm39) missense probably benign 0.24
R5396:Bop1 UTSW 15 76,339,489 (GRCm39) missense probably damaging 1.00
R5434:Bop1 UTSW 15 76,339,611 (GRCm39) missense probably benign 0.01
R5666:Bop1 UTSW 15 76,338,433 (GRCm39) missense probably benign 0.00
R5820:Bop1 UTSW 15 76,339,041 (GRCm39) missense probably damaging 1.00
R5907:Bop1 UTSW 15 76,340,117 (GRCm39) missense probably damaging 1.00
R6807:Bop1 UTSW 15 76,339,183 (GRCm39) missense probably damaging 0.99
R6947:Bop1 UTSW 15 76,338,188 (GRCm39) missense probably damaging 1.00
R7232:Bop1 UTSW 15 76,337,546 (GRCm39) missense probably damaging 1.00
R7395:Bop1 UTSW 15 76,338,041 (GRCm39) missense probably damaging 1.00
R7477:Bop1 UTSW 15 76,339,526 (GRCm39) missense probably damaging 1.00
R7725:Bop1 UTSW 15 76,339,583 (GRCm39) missense probably benign 0.23
R7792:Bop1 UTSW 15 76,338,548 (GRCm39) missense probably damaging 1.00
R8887:Bop1 UTSW 15 76,338,524 (GRCm39) missense probably damaging 0.98
R9292:Bop1 UTSW 15 76,351,031 (GRCm39) missense probably benign
R9487:Bop1 UTSW 15 76,338,076 (GRCm39) missense probably damaging 1.00
R9601:Bop1 UTSW 15 76,338,688 (GRCm39) missense probably benign 0.16
R9781:Bop1 UTSW 15 76,338,041 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGAACCTGGGCATAGCAG -3'
(R):5'- AGCGCTGCCTCGATTTGTATC -3'

Sequencing Primer
(F):5'- ATAGCAGGGACGCTCTCAG -3'
(R):5'- CGATTTGTATCTGTGCCCACGG -3'
Posted On 2017-02-10