Incidental Mutation 'R0281:Trp53bp1'
ID 37496
Institutional Source Beutler Lab
Gene Symbol Trp53bp1
Ensembl Gene ENSMUSG00000043909
Gene Name transformation related protein 53 binding protein 1
Synonyms 53BP1, p53BP1
MMRRC Submission 038503-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0281 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 121023762-121101888 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121100718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 89 (K89E)
Ref Sequence ENSEMBL: ENSMUSP00000114457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110647] [ENSMUST00000110648] [ENSMUST00000131245]
AlphaFold P70399
Predicted Effect probably damaging
Transcript: ENSMUST00000110647
AA Change: K89E

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106277
Gene: ENSMUSG00000043909
AA Change: K89E

DomainStartEndE-ValueType
low complexity region 136 149 N/A INTRINSIC
low complexity region 158 169 N/A INTRINSIC
low complexity region 647 661 N/A INTRINSIC
low complexity region 1031 1042 N/A INTRINSIC
low complexity region 1099 1112 N/A INTRINSIC
low complexity region 1260 1272 N/A INTRINSIC
low complexity region 1290 1332 N/A INTRINSIC
Pfam:53-BP1_Tudor 1430 1551 2.5e-80 PFAM
low complexity region 1581 1601 N/A INTRINSIC
BRCT 1673 1785 7.13e-1 SMART
BRCT 1813 1901 1.03e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000110648
AA Change: K89E

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106278
Gene: ENSMUSG00000043909
AA Change: K89E

DomainStartEndE-ValueType
low complexity region 136 149 N/A INTRINSIC
low complexity region 158 169 N/A INTRINSIC
low complexity region 647 661 N/A INTRINSIC
low complexity region 1031 1042 N/A INTRINSIC
low complexity region 1099 1112 N/A INTRINSIC
low complexity region 1260 1272 N/A INTRINSIC
low complexity region 1290 1332 N/A INTRINSIC
low complexity region 1389 1409 N/A INTRINSIC
Pfam:53-BP1_Tudor 1480 1601 1.5e-80 PFAM
low complexity region 1631 1651 N/A INTRINSIC
BRCT 1723 1835 7.13e-1 SMART
BRCT 1863 1951 1.03e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124060
Predicted Effect probably damaging
Transcript: ENSMUST00000131245
AA Change: K89E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114457
Gene: ENSMUSG00000043909
AA Change: K89E

DomainStartEndE-ValueType
low complexity region 136 149 N/A INTRINSIC
low complexity region 158 169 N/A INTRINSIC
low complexity region 647 661 N/A INTRINSIC
low complexity region 991 1002 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140285
Meta Mutation Damage Score 0.0755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 98% (104/106)
MGI Phenotype PHENOTYPE: Homozygous mutations in this gene result in growth retardation, immunodeficiency, thymic hypoplasia, and increased incidence of thymic lymphomas. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A T 4: 62,464,304 (GRCm39) R374* probably null Het
5930422O12Rik A T 8: 33,919,407 (GRCm39) R76* probably null Het
A1cf G A 19: 31,923,214 (GRCm39) A505T probably benign Het
Abcc5 T A 16: 20,241,150 (GRCm39) I12F probably damaging Het
Abcf2 T C 5: 24,771,562 (GRCm39) E555G probably damaging Het
Acan A T 7: 78,750,033 (GRCm39) E1601D probably damaging Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adam2 T A 14: 66,275,055 (GRCm39) K559N probably benign Het
Akap11 A C 14: 78,747,529 (GRCm39) D1619E possibly damaging Het
Ankrd11 T C 8: 123,622,307 (GRCm39) D515G probably benign Het
Ankrd27 T A 7: 35,318,796 (GRCm39) N562K probably damaging Het
Atp10b T C 11: 43,044,131 (GRCm39) I119T probably benign Het
Atr T C 9: 95,819,619 (GRCm39) I2202T probably benign Het
Bltp2 C T 11: 78,162,750 (GRCm39) L871F possibly damaging Het
Brd4 T A 17: 32,432,514 (GRCm39) probably benign Het
Catsperg2 C T 7: 29,405,996 (GRCm39) C634Y possibly damaging Het
Cep192 A G 18: 67,961,553 (GRCm39) probably benign Het
Cfap65 T A 1: 74,966,230 (GRCm39) I366F probably damaging Het
Cnga4 G T 7: 105,056,875 (GRCm39) R326L probably damaging Het
Cntnap5b T A 1: 99,999,878 (GRCm39) M212K probably benign Het
Col6a6 T A 9: 105,661,315 (GRCm39) M265L probably benign Het
Cspg4b A T 13: 113,505,677 (GRCm39) I727F probably damaging Het
Cyp26b1 A T 6: 84,551,538 (GRCm39) F417Y probably damaging Het
Dhx15 A T 5: 52,308,088 (GRCm39) M768K probably benign Het
Drc7 G A 8: 95,797,881 (GRCm39) R433H possibly damaging Het
Duox2 C T 2: 122,122,785 (GRCm39) V550M probably benign Het
Elmo2 A G 2: 165,138,810 (GRCm39) L456P probably damaging Het
Fbxo39 T C 11: 72,208,356 (GRCm39) I236T probably benign Het
Fezf2 A G 14: 12,343,977 (GRCm38) C305R probably damaging Het
Fndc3b C A 3: 27,511,155 (GRCm39) C785F probably benign Het
Gm12253 T C 11: 58,330,838 (GRCm39) probably benign Het
Gnat2 T A 3: 108,002,878 (GRCm39) Y95* probably null Het
Gopc T C 10: 52,226,774 (GRCm39) K220E probably damaging Het
Hectd4 G A 5: 121,392,314 (GRCm39) D193N possibly damaging Het
Hexa G A 9: 59,461,509 (GRCm39) probably null Het
Hspa4l T C 3: 40,739,840 (GRCm39) probably benign Het
Hspa5 T C 2: 34,664,332 (GRCm39) S301P probably damaging Het
Ice1 A T 13: 70,752,166 (GRCm39) S1307T possibly damaging Het
Igtp T C 11: 58,096,880 (GRCm39) L17P probably damaging Het
Itk T C 11: 46,244,743 (GRCm39) Y225C probably damaging Het
Kifc3 A G 8: 95,830,088 (GRCm39) V560A probably damaging Het
Lama1 A G 17: 68,124,564 (GRCm39) N2875D probably damaging Het
Lasp1 C A 11: 97,697,677 (GRCm39) C32* probably null Het
Lcp2 T A 11: 34,019,854 (GRCm39) probably benign Het
Lhx9 C T 1: 138,760,642 (GRCm39) G236D probably benign Het
Lrrc38 A T 4: 143,076,979 (GRCm39) I81F probably damaging Het
Ly6a C T 15: 74,867,236 (GRCm39) V94M probably benign Het
Map3k13 A G 16: 21,732,907 (GRCm39) E503G probably damaging Het
Mertk T C 2: 128,624,541 (GRCm39) probably benign Het
Mrtfb T A 16: 13,230,027 (GRCm39) I915N probably damaging Het
Msantd2 G A 9: 37,434,515 (GRCm39) D252N possibly damaging Het
Mtmr12 T A 15: 12,257,792 (GRCm39) L290* probably null Het
Myo3a T C 2: 22,250,409 (GRCm39) I92T probably benign Het
Naglu T A 11: 100,964,853 (GRCm39) N313K probably damaging Het
Nceh1 T C 3: 27,276,953 (GRCm39) V92A possibly damaging Het
Ncf4 A G 15: 78,135,083 (GRCm39) T47A probably damaging Het
Nrp1 T A 8: 129,187,164 (GRCm39) F403L probably damaging Het
Nxph3 T C 11: 95,402,082 (GRCm39) T111A possibly damaging Het
Obscn T A 11: 58,929,441 (GRCm39) E6061V probably damaging Het
Obsl1 C A 1: 75,469,571 (GRCm39) G1149W probably damaging Het
Or14c39 A G 7: 86,344,068 (GRCm39) T135A probably benign Het
Or2k2 A T 4: 58,784,981 (GRCm39) V247E probably damaging Het
Or2p2 T A 13: 21,256,544 (GRCm39) Y309F probably benign Het
Or5b123 A G 19: 13,596,849 (GRCm39) T65A probably benign Het
Or5d14 C T 2: 87,880,756 (GRCm39) V71I possibly damaging Het
Or5p68 A C 7: 107,946,121 (GRCm39) D22E probably benign Het
Or6c70 T A 10: 129,710,415 (GRCm39) L70F possibly damaging Het
Pde9a T C 17: 31,674,080 (GRCm39) V55A probably damaging Het
Pip4k2c A T 10: 127,041,690 (GRCm39) probably null Het
Plvap T C 8: 71,964,026 (GRCm39) N112S probably damaging Het
Pop1 T A 15: 34,530,004 (GRCm39) probably null Het
Ppip5k2 T C 1: 97,644,278 (GRCm39) H1113R possibly damaging Het
Ptprk A T 10: 28,449,388 (GRCm39) I962F probably damaging Het
Rad51ap2 T C 12: 11,507,043 (GRCm39) S322P possibly damaging Het
Rasal1 A G 5: 120,812,670 (GRCm39) T565A probably benign Het
Rbm15 C A 3: 107,238,471 (GRCm39) R642S probably damaging Het
Rpsa G A 9: 119,960,069 (GRCm39) E211K possibly damaging Het
Ryr3 A G 2: 112,517,155 (GRCm39) S3303P probably damaging Het
Scg2 T A 1: 79,413,229 (GRCm39) N458I possibly damaging Het
Setx A G 2: 29,069,655 (GRCm39) T2487A probably benign Het
Slc4a5 G A 6: 83,244,549 (GRCm39) probably benign Het
Slc8a2 T A 7: 15,874,914 (GRCm39) D387E probably benign Het
Smarcc2 A G 10: 128,310,591 (GRCm39) T407A probably benign Het
Snap25 A G 2: 136,619,384 (GRCm39) D179G probably damaging Het
Socs4 T C 14: 47,527,325 (GRCm39) S74P probably benign Het
Sp6 T A 11: 96,912,751 (GRCm39) Y155N probably benign Het
Srrt C T 5: 137,294,389 (GRCm39) probably benign Het
Steap1 C T 5: 5,786,431 (GRCm39) M335I probably benign Het
Stra6 A T 9: 58,052,772 (GRCm39) Y250F probably benign Het
Svil T C 18: 5,094,582 (GRCm39) S1421P probably damaging Het
Tcea3 G A 4: 135,998,677 (GRCm39) C317Y probably damaging Het
Tmco6 T C 18: 36,870,757 (GRCm39) L117S probably damaging Het
Trp63 T A 16: 25,583,052 (GRCm39) probably benign Het
Ube2d2a A G 18: 35,933,185 (GRCm39) Y74C probably damaging Het
Usp19 T G 9: 108,375,708 (GRCm39) F885V probably damaging Het
Utp18 T A 11: 93,773,003 (GRCm39) probably benign Het
Vmn2r116 T C 17: 23,620,387 (GRCm39) I707T possibly damaging Het
Vmn2r68 T A 7: 84,882,457 (GRCm39) probably benign Het
Vmn2r68 C G 7: 84,882,466 (GRCm39) probably null Het
Zfp318 C T 17: 46,723,540 (GRCm39) P1848S probably benign Het
Zfp984 G T 4: 147,839,722 (GRCm39) N376K probably benign Het
Other mutations in Trp53bp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Trp53bp1 APN 2 121,087,060 (GRCm39) missense possibly damaging 0.69
IGL00690:Trp53bp1 APN 2 121,066,476 (GRCm39) missense probably damaging 1.00
IGL00922:Trp53bp1 APN 2 121,038,963 (GRCm39) missense probably damaging 0.96
IGL01475:Trp53bp1 APN 2 121,100,800 (GRCm39) splice site probably null
IGL01639:Trp53bp1 APN 2 121,033,173 (GRCm39) missense possibly damaging 0.51
IGL01662:Trp53bp1 APN 2 121,066,506 (GRCm39) missense probably damaging 1.00
IGL01757:Trp53bp1 APN 2 121,041,785 (GRCm39) missense probably damaging 0.99
IGL01829:Trp53bp1 APN 2 121,046,377 (GRCm39) missense probably benign 0.39
IGL02247:Trp53bp1 APN 2 121,067,070 (GRCm39) missense probably damaging 1.00
IGL02349:Trp53bp1 APN 2 121,029,555 (GRCm39) missense probably damaging 1.00
IGL02391:Trp53bp1 APN 2 121,033,191 (GRCm39) missense possibly damaging 0.67
chives UTSW 2 121,082,349 (GRCm39) missense probably null 0.13
concur UTSW 2 121,100,800 (GRCm39) splice site probably null
confirmation UTSW 2 121,035,594 (GRCm39) critical splice acceptor site probably null
Infra UTSW 2 121,077,980 (GRCm39) critical splice donor site probably null
Legume UTSW 2 121,029,523 (GRCm39) missense probably damaging 0.99
lentil UTSW 2 121,082,349 (GRCm39) missense probably null 0.13
lentil2 UTSW 2 121,038,368 (GRCm39) missense probably damaging 1.00
Profundus UTSW 2 121,038,284 (GRCm39) missense probably damaging 1.00
split_pea UTSW 2 121,059,087 (GRCm39) nonsense probably null
verily UTSW 2 121,041,794 (GRCm39) missense probably damaging 1.00
PIT1430001:Trp53bp1 UTSW 2 121,101,756 (GRCm39) missense probably damaging 1.00
R0045:Trp53bp1 UTSW 2 121,034,978 (GRCm39) missense probably benign
R0060:Trp53bp1 UTSW 2 121,035,006 (GRCm39) missense probably damaging 1.00
R0060:Trp53bp1 UTSW 2 121,035,006 (GRCm39) missense probably damaging 1.00
R0103:Trp53bp1 UTSW 2 121,067,240 (GRCm39) missense possibly damaging 0.92
R0103:Trp53bp1 UTSW 2 121,067,240 (GRCm39) missense possibly damaging 0.92
R0386:Trp53bp1 UTSW 2 121,035,424 (GRCm39) missense probably damaging 1.00
R0427:Trp53bp1 UTSW 2 121,066,498 (GRCm39) missense probably damaging 1.00
R0505:Trp53bp1 UTSW 2 121,100,450 (GRCm39) missense probably damaging 0.99
R0522:Trp53bp1 UTSW 2 121,082,349 (GRCm39) missense probably null 0.13
R0523:Trp53bp1 UTSW 2 121,082,349 (GRCm39) missense probably null 0.13
R0525:Trp53bp1 UTSW 2 121,082,349 (GRCm39) missense probably null 0.13
R0543:Trp53bp1 UTSW 2 121,082,349 (GRCm39) missense probably null 0.13
R0559:Trp53bp1 UTSW 2 121,058,282 (GRCm39) missense probably damaging 1.00
R0573:Trp53bp1 UTSW 2 121,058,653 (GRCm39) splice site probably benign
R0593:Trp53bp1 UTSW 2 121,101,009 (GRCm39) missense possibly damaging 0.95
R0648:Trp53bp1 UTSW 2 121,066,188 (GRCm39) missense probably benign 0.20
R0680:Trp53bp1 UTSW 2 121,082,349 (GRCm39) missense probably null 0.13
R0732:Trp53bp1 UTSW 2 121,078,745 (GRCm39) missense probably null 0.96
R0905:Trp53bp1 UTSW 2 121,034,799 (GRCm39) splice site probably benign
R1377:Trp53bp1 UTSW 2 121,101,123 (GRCm39) missense probably damaging 1.00
R1415:Trp53bp1 UTSW 2 121,066,665 (GRCm39) missense probably damaging 1.00
R1725:Trp53bp1 UTSW 2 121,082,481 (GRCm39) missense possibly damaging 0.46
R1971:Trp53bp1 UTSW 2 121,035,517 (GRCm39) missense probably damaging 1.00
R2045:Trp53bp1 UTSW 2 121,034,964 (GRCm39) missense probably benign
R2143:Trp53bp1 UTSW 2 121,046,545 (GRCm39) missense probably benign 0.00
R2282:Trp53bp1 UTSW 2 121,100,754 (GRCm39) nonsense probably null
R2296:Trp53bp1 UTSW 2 121,039,728 (GRCm39) missense possibly damaging 0.96
R3106:Trp53bp1 UTSW 2 121,067,133 (GRCm39) missense probably damaging 1.00
R3792:Trp53bp1 UTSW 2 121,030,810 (GRCm39) missense probably damaging 1.00
R3793:Trp53bp1 UTSW 2 121,030,810 (GRCm39) missense probably damaging 1.00
R3946:Trp53bp1 UTSW 2 121,059,107 (GRCm39) missense probably damaging 0.99
R4001:Trp53bp1 UTSW 2 121,035,566 (GRCm39) missense probably damaging 1.00
R4327:Trp53bp1 UTSW 2 121,087,131 (GRCm39) missense probably damaging 1.00
R4585:Trp53bp1 UTSW 2 121,038,432 (GRCm39) missense probably damaging 1.00
R4630:Trp53bp1 UTSW 2 121,038,368 (GRCm39) missense probably damaging 1.00
R4744:Trp53bp1 UTSW 2 121,041,794 (GRCm39) missense probably damaging 1.00
R4751:Trp53bp1 UTSW 2 121,058,290 (GRCm39) missense probably damaging 1.00
R4754:Trp53bp1 UTSW 2 121,038,360 (GRCm39) missense probably damaging 1.00
R4755:Trp53bp1 UTSW 2 121,059,087 (GRCm39) nonsense probably null
R4850:Trp53bp1 UTSW 2 121,035,594 (GRCm39) critical splice acceptor site probably null
R4870:Trp53bp1 UTSW 2 121,087,122 (GRCm39) missense probably damaging 1.00
R4879:Trp53bp1 UTSW 2 121,033,084 (GRCm39) missense probably damaging 0.99
R4924:Trp53bp1 UTSW 2 121,051,701 (GRCm39) nonsense probably null
R4962:Trp53bp1 UTSW 2 121,101,027 (GRCm39) missense probably benign 0.12
R5019:Trp53bp1 UTSW 2 121,100,800 (GRCm39) splice site probably null
R5111:Trp53bp1 UTSW 2 121,041,868 (GRCm39) missense probably damaging 0.99
R5149:Trp53bp1 UTSW 2 121,046,598 (GRCm39) missense probably benign 0.00
R5252:Trp53bp1 UTSW 2 121,074,464 (GRCm39) missense probably benign 0.40
R5533:Trp53bp1 UTSW 2 121,038,227 (GRCm39) missense probably damaging 1.00
R5642:Trp53bp1 UTSW 2 121,067,143 (GRCm39) missense probably benign 0.00
R5773:Trp53bp1 UTSW 2 121,074,395 (GRCm39) missense probably damaging 1.00
R5819:Trp53bp1 UTSW 2 121,038,873 (GRCm39) nonsense probably null
R5886:Trp53bp1 UTSW 2 121,035,502 (GRCm39) missense probably damaging 1.00
R5908:Trp53bp1 UTSW 2 121,067,304 (GRCm39) missense probably benign 0.06
R6012:Trp53bp1 UTSW 2 121,087,083 (GRCm39) missense probably benign 0.07
R6351:Trp53bp1 UTSW 2 121,100,426 (GRCm39) missense probably damaging 1.00
R6406:Trp53bp1 UTSW 2 121,101,093 (GRCm39) missense probably damaging 0.99
R6575:Trp53bp1 UTSW 2 121,059,084 (GRCm39) missense probably damaging 1.00
R6619:Trp53bp1 UTSW 2 121,077,980 (GRCm39) critical splice donor site probably null
R6626:Trp53bp1 UTSW 2 121,038,284 (GRCm39) missense probably damaging 1.00
R6754:Trp53bp1 UTSW 2 121,101,057 (GRCm39) missense possibly damaging 0.83
R6765:Trp53bp1 UTSW 2 121,039,790 (GRCm39) missense probably damaging 1.00
R6806:Trp53bp1 UTSW 2 121,059,147 (GRCm39) missense probably damaging 0.99
R6860:Trp53bp1 UTSW 2 121,029,594 (GRCm39) missense probably damaging 1.00
R6991:Trp53bp1 UTSW 2 121,038,521 (GRCm39) missense probably damaging 1.00
R7278:Trp53bp1 UTSW 2 121,029,516 (GRCm39) missense probably damaging 1.00
R7339:Trp53bp1 UTSW 2 121,066,950 (GRCm39) missense probably benign 0.00
R7357:Trp53bp1 UTSW 2 121,041,781 (GRCm39) missense probably damaging 1.00
R7477:Trp53bp1 UTSW 2 121,066,827 (GRCm39) missense probably benign 0.34
R7577:Trp53bp1 UTSW 2 121,067,119 (GRCm39) missense possibly damaging 0.65
R7643:Trp53bp1 UTSW 2 121,078,295 (GRCm39) splice site probably null
R7728:Trp53bp1 UTSW 2 121,038,380 (GRCm39) missense probably damaging 1.00
R7806:Trp53bp1 UTSW 2 121,035,542 (GRCm39) missense probably damaging 0.99
R7955:Trp53bp1 UTSW 2 121,066,225 (GRCm39) missense possibly damaging 0.59
R8099:Trp53bp1 UTSW 2 121,030,230 (GRCm39) missense probably damaging 1.00
R8200:Trp53bp1 UTSW 2 121,066,657 (GRCm39) missense probably benign 0.00
R8282:Trp53bp1 UTSW 2 121,029,523 (GRCm39) missense probably damaging 0.99
R9136:Trp53bp1 UTSW 2 121,067,092 (GRCm39) missense possibly damaging 0.84
R9152:Trp53bp1 UTSW 2 121,029,056 (GRCm39) missense probably damaging 0.99
R9292:Trp53bp1 UTSW 2 121,046,177 (GRCm39) missense probably damaging 0.97
R9340:Trp53bp1 UTSW 2 121,100,460 (GRCm39) missense probably benign 0.40
R9475:Trp53bp1 UTSW 2 121,039,761 (GRCm39) missense probably benign 0.00
R9616:Trp53bp1 UTSW 2 121,066,657 (GRCm39) missense probably benign 0.30
R9675:Trp53bp1 UTSW 2 121,087,089 (GRCm39) missense probably benign 0.03
R9779:Trp53bp1 UTSW 2 121,066,469 (GRCm39) missense probably damaging 1.00
RF046:Trp53bp1 UTSW 2 121,046,482 (GRCm39) frame shift probably null
Z1088:Trp53bp1 UTSW 2 121,084,126 (GRCm39) missense probably benign 0.04
Z1177:Trp53bp1 UTSW 2 121,074,541 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- GCTGAGGTAACCGTTCAATGACCTG -3'
(R):5'- AGTGAGTGATGATGCCCTGTTCAAG -3'

Sequencing Primer
(F):5'- ACCGTTCAATGACCTGACTGATG -3'
(R):5'- CTTTTGGATAAAGTTGGTGGGGAAC -3'
Posted On 2013-05-23